819 31 33 http://www.orpha.net/ORDO/Orphanet_397750 Periodic paralysis with later-onset distal motor neuropathy 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000405 digestive system disease 'digestive system disease' SubClassOf 'disease by anatomical system' 'digestive system disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_94125 Recessive mitochondrial ataxia syndrome 'Recessive mitochondrial ataxia syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1381 Cataract - intellectual disability - anal atresia - urinary defects 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1380 Cataract - nephropathy - encephalopathy 'Cataract - nephropathy - encephalopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1389 Cortical blindness - intellectual disability - polydactyly 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1387 Cataract - intellectual disability - hypogonadism 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Syndromic cataract' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'syndromic intellectual disability' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'congenital nervous system disorder' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Syndromic cataract' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1388 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1394 Cerebro-facio-thoracic dysplasia 'Cerebro-facio-thoracic dysplasia' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000398 dermatomyositis 'dermatomyositis' SubClassOf 'autoimmune disease with skin involvement' http://purl.obolibrary.org/obo/MONDO_0021582 lentigo 'lentigo' SubClassOf 'benign neoplasm of skin' 'lentigo' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1340 Cardiofaciocutaneous syndrome 'Cardiofaciocutaneous syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1355 Heart defect - round face - congenital developmental delay 'Heart defect - round face - congenital developmental delay' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 'immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia' SubClassOf 'immunodeficiency disease' 'immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 'immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia' SubClassOf 'immunodeficiency disease' 'immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia' SubClassOf 'T-B- severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_1375 Cataract - hypertrichosis - intellectual disability 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1308 C syndrome 'C syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_309297 Mucopolysaccharidosis type 4A 'Mucopolysaccharidosis type 4A' SubClassOf 'disease of catalytic activity' http://www.ebi.ac.uk/efo/EFO_1000350 Malignant Bone Neoplasm 'Malignant Bone Neoplasm' SubClassOf 'connective tissue cancer' 'Malignant Bone Neoplasm' SubClassOf 'musculoskeletal system cancer' http://www.ebi.ac.uk/efo/EFO_0000319 cardiovascular disease 'cardiovascular disease' SubClassOf 'disease by anatomical system' 'cardiovascular disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_1186 Infantile onset spinocerebellar ataxia 'Infantile onset spinocerebellar ataxia' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000333 chondrosarcoma 'chondrosarcoma' SubClassOf 'connective tissue cancer' 'chondrosarcoma' SubClassOf 'connective tissue neoplasm' http://www.orpha.net/ORDO/Orphanet_1193 Atkin-Flaitz syndrome 'Atkin-Flaitz syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1261 Bonnemann-Meinecke-Reich syndrome 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1272 Fine-Lubinsky syndrome 'Fine-Lubinsky syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1277 Brachydactyly - mesomelia - intellectual disability - heart defects 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1299 Branchio-skeleto-genital syndrome 'Branchio-skeleto-genital syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_94068 Spondyloepiphyseal dysplasia congenita 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'collagenopathy type 2 alpha 1' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'collagenopathy type 2 alpha 1' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_94066 Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1252 Blepharonasofacial malformation syndrome 'Blepharonasofacial malformation syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_94095 Spondylocostal dysostosis - anal and genitourinary malformations 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_309334 Salla disease 'Salla disease' SubClassOf 'disease of transporter activity' http://www.orpha.net/ORDO/Orphanet_324977 Proteasome disability syndrome 'Proteasome disability syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_35704 Arginine:glycine amidinotransferase deficiency 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_309310 Mucopolysaccharidosis type 4B 'Mucopolysaccharidosis type 4B' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_35737 Morning glory syndrome 'Morning glory syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1215 Autosomal dominant optic atrophy plus syndrome 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_157949 Combined immunodeficiency with skin granulomas 'Combined immunodeficiency with skin granulomas' SubClassOf 'non-severe combined immunodeficiency' 'Combined immunodeficiency with skin granulomas' SubClassOf 'T-B- severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_104006 Congenital intestinal disease due to an enzymatic defect 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_104003 Congenital intestinal transport defect 'Congenital intestinal transport defect' SubClassOf 'disease of transporter activity' http://www.orpha.net/ORDO/Orphanet_324540 Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000018 bladder disease 'bladder disease' SubClassOf 'disorder by anatomical region' http://www.ebi.ac.uk/efo/EFO_0000618 nervous system disease 'nervous system disease' SubClassOf 'disease by anatomical system' 'nervous system disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_324535 Combined oxidative phosphorylation defect type 11 'Combined oxidative phosphorylation defect type 11' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000699 Sjogren syndrome 'Sjogren syndrome' SubClassOf 'systemic autoimmune disease' http://www.ebi.ac.uk/efo/EFO_0000684 respiratory system disease 'respiratory system disease' SubClassOf 'disease by anatomical system' 'respiratory system disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/DOID_0050890 synucleinopathy 'synucleinopathy' SubClassOf 'neurodegenerative disease' 'synucleinopathy' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_238446 15q11q13 microduplication syndrome '15q11q13 microduplication syndrome' SubClassOf 'congenital nervous system disorder' '15q11q13 microduplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_1548 Cryptorchidism - arachnodactyly - intellectual disability 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1538 Craniosynostosis - Dandy-Walker malformation - hydrocephalus 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Isolated craniosynostosis' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Congenital hydrocephalus' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_33445 Neuroectodermal melanolysosomal disease 'Neuroectodermal melanolysosomal disease' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1573 Hypotrichosis with juvenile macular degeneration 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1571 Knobloch syndrome 'Knobloch syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1514 Craniodigital syndrome - intellectual disability 'Craniodigital syndrome - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1512 Crane-Heise syndrome 'Crane-Heise syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1520 Craniofrontonasal dysplasia 'Craniofrontonasal dysplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_45448 Miyoshi myopathy 'Miyoshi myopathy' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Miyoshi myopathy' SubClassOf 'Qualitative or quantitative defects of dysferlin' http://www.orpha.net/ORDO/Orphanet_309025 Mevalonate kinase deficiency 'Mevalonate kinase deficiency' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_397612 Macrocephaly-developmental delay syndrome 'Macrocephaly-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000524 head and neck disorder 'head and neck disorder' SubClassOf 'disorder by anatomical region' 'head and neck disorder' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_263355 ATR-X-related syndrome 'ATR-X-related syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000540 immune system disease 'immune system disease' SubClassOf 'disease by anatomical system' 'immune system disease' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0000589 metabolic disease 'metabolic disease' SubClassOf 'disease by cellular process disrupted' 'metabolic disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0021205 disease of ear 'disease of ear' SubClassOf 'disease by anatomical system' http://purl.obolibrary.org/obo/MONDO_0021208 endocrine alopecia 'endocrine alopecia' SubClassOf 'disease of signal transduction' http://www.orpha.net/ORDO/Orphanet_238329 Severe X-linked mitochondrial encephalomyopathy 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1460 Isolated CoQ-cytochrome C reductase deficiency 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'disease of macromolecular complex' http://www.orpha.net/ORDO/Orphanet_1465 Coffin-Siris syndrome 'Coffin-Siris syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1473 Uveal coloboma - cleft lip and palate - intellectual disability 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1484 Contractures - ectodermal dysplasia - cleft lip/palate 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_324737 SRD5A3-CDG 'SRD5A3-CDG' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1438 Ring chromosome 10 'Ring chromosome 10' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1436 Skeletal dysplasia - intellectual disability 'Skeletal dysplasia - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1428 Familial chondromalacia patellae 'Familial chondromalacia patellae' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_1440 Ring chromosome 14 'Ring chromosome 14' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_35981 Polymicrogyria 'Polymicrogyria' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1444 Ring chromosome 20 'Ring chromosome 20' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1451 CINCA syndrome 'CINCA syndrome' SubClassOf 'systemic diseases with anterior uveitis' http://www.orpha.net/ORDO/Orphanet_397695 3q27.3 microdeletion syndrome '3q27.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_33355 Reticular dysgenesis 'Reticular dysgenesis' SubClassOf 'T-B- severe combined immunodeficiency' 'Reticular dysgenesis' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0021106 laminopathy 'laminopathy' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0021164 posthitis 'posthitis' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted 'disease by molecular activity disrupted' SubClassOf 'disease by subcellular system affected' http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected 'disease by cellular component affected' SubClassOf 'disease by subcellular system affected' http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system 'disease by anatomical system' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected 'disease by subcellular system affected' EquivalentTo 'disease by cellular process disrupted' or 'disease by molecular activity disrupted' or 'disease by cellular component affected' 'disease by subcellular system affected' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted 'disease by cellular process disrupted' SubClassOf 'disease by subcellular system affected' http://www.orpha.net/ORDO/Orphanet_50812 Zellweger-like syndrome without peroxisomal anomalies 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf 'systemic autoimmune disease' 'systemic scleroderma' SubClassOf 'autoimmune disease with skin involvement' 'systemic scleroderma' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/UBERON_0002769 superior temporal gyrus 'superior temporal gyrus' SubClassOf 'part_of' some 'cerebral cortex' http://www.orpha.net/ORDO/Orphanet_86818 Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'congenital nervous system disorder' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'congenital anemia' http://purl.obolibrary.org/obo/UBERON_0002771 middle temporal gyrus 'middle temporal gyrus' SubClassOf 'part_of' some 'cerebral cortex' http://www.orpha.net/ORDO/Orphanet_98878 Hemophilia A 'Hemophilia A' SubClassOf 'disease of catalytic activity' http://www.ebi.ac.uk/efo/EFO_0000792 craniofacial tissue 'craniofacial tissue' SubClassOf 'part_of' some 'craniofacial tissue' http://www.orpha.net/ORDO/Orphanet_98892 Periventricular nodular heterotopia 'Periventricular nodular heterotopia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3369 Trigonocephaly - short stature - developmental delay 'Trigonocephaly - short stature - developmental delay' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3378 Trisomy 13 'Trisomy 13' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3448 Weaver-Williams syndrome 'Weaver-Williams syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3447 Weaver syndrome 'Weaver syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_238578 Familial clubfoot due to 17q23.1q23.2 microduplication 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_3454 Intellectual disability-developmental delay-contractures syndrome 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3459 Wilson-Turner syndrome 'Wilson-Turner syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3455 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3473 Zimmermann-Laband syndrome 'Zimmermann-Laband syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3404 Ulbright-Hodes syndrome 'Ulbright-Hodes syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3412 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3409 Urban-Rogers-Meyer syndrome 'Urban-Rogers-Meyer syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0021003 polydactyly 'polydactyly' SubClassOf 'congenital abnormality' http://www.orpha.net/ORDO/Orphanet_96263 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_96264 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3437 Vogt-Koyanagi-Harada disease 'Vogt-Koyanagi-Harada disease' SubClassOf 'autoimmune uveitis' 'Vogt-Koyanagi-Harada disease' SubClassOf 'genetic otorhinolaryngologic disease' 'Vogt-Koyanagi-Harada disease' SubClassOf 'autoimmune disease of the nervous system' 'Vogt-Koyanagi-Harada disease' SubClassOf 'Rare genetic neurological disorder' 'Vogt-Koyanagi-Harada disease' SubClassOf 'type II hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_3434 MMEP syndrome 'MMEP syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3433 Microcephaly - brachydactyly - kyphoscoliosis 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0021016 channelopathy 'channelopathy' SubClassOf 'disease of transporter activity' 'channelopathy' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0045003 scrotal disease 'scrotal disease' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/MONDO_0021017 synaptopathy 'synaptopathy' SubClassOf 'disease by cellular component affected' 'synaptopathy' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0045031 infectious diarrheal disease 'infectious diarrheal disease' EquivalentTo 'diarrheal disease' and 'infectious disease' 'infectious diarrheal disease' SubClassOf 'diarrheal disease' 'infectious diarrheal disease' SubClassOf 'digestive system infectious disease' http://www.orpha.net/ORDO/Orphanet_397951 Microcephaly-thin corpus callosum-intellectual disability syndrome 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/UBERON_0002661 superior frontal gyrus 'superior frontal gyrus' SubClassOf 'part_of' some 'cerebral cortex' http://www.ebi.ac.uk/efo/EFO_0009488 spinal cord disease 'spinal cord disease' SubClassOf 'disorder by anatomical region' http://www.orpha.net/ORDO/Orphanet_1067 Aniridia - ptosis - intellectual disability - familial obesity 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1064 Aniridia - renal agenesis - psychomotor retardation 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1065 Aniridia - cerebellar ataxia - intellectual disability 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1062 Hereditary neurocutaneous angioma 'Hereditary neurocutaneous angioma' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1068 Aniridia-intellectual disability syndrome 'Aniridia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1145 X-linked distal arthrogryposis multiplex congenita 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1155 Arthrogryposis due to muscular dystrophy 'Arthrogryposis due to muscular dystrophy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_261272 17q12 microduplication syndrome '17q12 microduplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_1110 Aortic arch anomaly - peculiar facies - intellectual disability 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1129 Arachnodactyly - abnormal ossification - intellectual disability 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1131 X-linked mandibulofacial dysostosis 'X-linked mandibulofacial dysostosis' SubClassOf 'congenital nervous system disorder' 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 'congenital nervous system disorder' http://purl.obolibrary.org/obo/UBERON_0002703 precentral gyrus 'precentral gyrus' SubClassOf 'part_of' some 'cerebral cortex' http://www.orpha.net/ORDO/Orphanet_141333 Biemond syndrome type 2 'Biemond syndrome type 2' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/UBERON_0002581 postcentral gyrus 'postcentral gyrus' SubClassOf 'part_of' some 'cerebral cortex' http://www.ebi.ac.uk/efo/EFO_0000991 seed structure 'seed structure' SubClassOf 'part_of' some 'seed structure' http://www.ebi.ac.uk/efo/EFO_0000998 plant reproductive system structure 'plant reproductive system structure' SubClassOf 'part_of' some 'plant reproductive system structure' http://www.ebi.ac.uk/efo/EFO_0000989 root structure 'root structure' SubClassOf 'part_of' some 'root structure' http://www.orpha.net/ORDO/Orphanet_263768 Partial duplication of chromosome X 'Partial duplication of chromosome X' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.ebi.ac.uk/efo/EFO_0010285 integumentary system disease 'integumentary system disease' SubClassOf 'disease by anatomical system' 'integumentary system disease' SubClassOf 'disorder by anatomical region' 'integumentary system disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_261102 Distal 7q11.23 microduplication syndrome 'Distal 7q11.23 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 7' 'Distal 7q11.23 microduplication syndrome' SubClassOf '7q11.23 microduplication syndrome' http://www.orpha.net/ORDO/Orphanet_1046 Lethal hemolytic anemia - genital anomalies 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_1005 Alopecia-contractures-dwarfism-intellectual disability syndrome 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011431 MASS syndrome 'MASS syndrome' SubClassOf 'genetic disorder' 'MASS syndrome' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_309568 Defect in conserved oligomeric Golgi complex 'Defect in conserved oligomeric Golgi complex' SubClassOf 'disease of macromolecular complex' http://www.orpha.net/ORDO/Orphanet_238766 Ptosis - syndactyly - learning difficulties 'Ptosis - syndactyly - learning difficulties' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_280633 Multiple congenital anomalies - hypotonia - seizures syndrome 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0043707 mediastinal disease 'mediastinal disease' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_228003 Severe combined immunodeficiency due to CORO1A deficiency 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_72 Angelman syndrome 'Angelman syndrome' SubClassOf 'Chromosomal anomaly' 'Angelman syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_84 Fanconi anemia 'Fanconi anemia' SubClassOf 'congenital anemia' 'Fanconi anemia' SubClassOf 'bone marrow disease' http://www.orpha.net/ORDO/Orphanet_61 Alpha-mannosidosis 'Alpha-mannosidosis' SubClassOf 'disease of catalytic activity' 'Alpha-mannosidosis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0043786 serositis 'serositis' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_46 Adenylosuccinate lyase deficiency 'Adenylosuccinate lyase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_42 Medium chain acyl-CoA dehydrogenase deficiency 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_15 Achondroplasia 'Achondroplasia' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_10 48,XXYY syndrome '48,XXYY syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_169150 Immunodeficiency due to a late component of complements deficiency 'Immunodeficiency due to a late component of complements deficiency' SubClassOf 'disease of macromolecular complex' http://www.orpha.net/ORDO/Orphanet_363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79269 Sanfilippo syndrome type A 'Sanfilippo syndrome type A' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type b 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'disease of transporter activity' http://www.orpha.net/ORDO/Orphanet_79242 Holocarboxylase synthetase deficiency 'Holocarboxylase synthetase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_79241 Biotinidase deficiency 'Biotinidase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_314603 Autosomal recessive spastic ataxia with leukoencephalopathy 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018642 NIK deficiency 'NIK deficiency' SubClassOf 'disease of signal transduction' http://purl.obolibrary.org/obo/MONDO_0018652 biological anomaly without phenotypic characterization 'biological anomaly without phenotypic characterization' SubClassOf 'has modifier' some 'rare' 'biological anomaly without phenotypic characterization' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_169079 Cernunnos-XLF deficiency 'Cernunnos-XLF deficiency' SubClassOf 'non-severe combined immunodeficiency' 'Cernunnos-XLF deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0018677 visceral heterotaxy 'visceral heterotaxy' SubClassOf 'congenital abnormality' 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 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_314667 TMEM165-CDG 'TMEM165-CDG' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_314679 Cerebro-facio-articular syndrome 'Cerebro-facio-articular syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_206546 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 'Qualitative or quantitative defects of dystrophin' 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'dilated cardiomyopathy 3B' http://www.orpha.net/ORDO/Orphanet_206549 Autosomal recessive limb-girdle muscular dystrophy type 2L 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'Qualitative or quantitative defects of fukutin' http://www.orpha.net/ORDO/Orphanet_206554 Autosomal recessive limb-girdle muscular dystrophy type 2M 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Qualitative or quantitative defects of fukutin' http://www.orpha.net/ORDO/Orphanet_93 Aspartylglucosaminuria 'Aspartylglucosaminuria' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_206564 Autosomal recessive limb-girdle muscular dystrophy type 2O 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' http://www.orpha.net/ORDO/Orphanet_363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79333 COG7-CDG 'COG7-CDG' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79329 MGAT2-CDG 'MGAT2-CDG' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0002087 fibrosarcoma 'fibrosarcoma' SubClassOf 'connective tissue cancer' http://purl.obolibrary.org/obo/MONDO_0018555 hypogonadotropic hypogonadism 'hypogonadotropic hypogonadism' SubClassOf 'disease of signal transduction' http://purl.obolibrary.org/obo/MONDO_0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0043543 iatrogenic disease 'iatrogenic disease' EquivalentTo 'disease' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0100426) 'iatrogenic disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0100426 http://www.ebi.ac.uk/efo/EFO_0004991 Myasthenia gravis 'Myasthenia gravis' SubClassOf 'disease of signal transduction' 'Myasthenia gravis' SubClassOf 'disease of receptor activity' http://www.ebi.ac.uk/efo/EFO_1000835 benign fibrous mesothelioma 'benign fibrous mesothelioma' SubClassOf 'benign mesothelioma' 'benign fibrous mesothelioma' SubClassOf 'benign neoplasm' 'benign fibrous mesothelioma' SubClassOf 'mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000900 discitis 'discitis' SubClassOf 'cartilage disease' 'discitis' SubClassOf 'cartilage disease' http://purl.obolibrary.org/obo/MONDO_0018496 ARX-related encephalopathy-brain malformation spectrum 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1702 Non-distal trisomy 13q 'Non-distal trisomy 13q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022177 http://www.orpha.net/ORDO/Orphanet_324313 9p13 microdeletion syndrome '9p13 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1727 22q11.2 microduplication syndrome '22q11.2 microduplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis 'isolated cerebellar hypoplasia/agenesis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'disease of catalytic activity' http://www.ebi.ac.uk/efo/EFO_0002613 iatrogenic Kaposi's sarcoma 'iatrogenic Kaposi's sarcoma' EquivalentTo 'Kaposi's sarcoma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0100426) 'iatrogenic Kaposi's sarcoma' SubClassOf 'nosocomial infection' http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease 'secondary neonatal autoimmune disease' SubClassOf 'systemic autoimmune disease' 'secondary neonatal autoimmune disease' SubClassOf 'type II hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_228426 Syndromic multisystem autoimmune disease due to Itch deficiency 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'autoimmune disease of central nervous system' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'autoimmune disease of gastrointestinal tract' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'congenital nervous system disorder' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'systemic autoimmune disease' http://www.orpha.net/ORDO/Orphanet_1788 Acrofacial dysostosis, Rodríguez type 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1786 Acrofacial dysostosis, Catania type 'Acrofacial dysostosis, Catania type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1778 Facial dysmorphism - shawl scrotum - joint laxity 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1775 Dyskeratosis congenita 'Dyskeratosis congenita' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000755 pigmentation disease 'pigmentation disease' SubClassOf 'disease by cellular process disrupted' http://www.orpha.net/ORDO/Orphanet_228384 5q14.3 microdeletion syndrome '5q14.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0002511 simple cystadenoma 'simple cystadenoma' SubClassOf 'benign epithelial neoplasm' 'simple cystadenoma' SubClassOf 'Benign Ovarian Neoplasm' 'simple cystadenoma' SubClassOf 'ovarian epithelial tumor' 'simple cystadenoma' SubClassOf 'ovarian adenoma benign' http://www.ebi.ac.uk/efo/EFO_0002507 ovarian adenoma benign 'ovarian adenoma benign' SubClassOf 'ovarian disease' 'ovarian adenoma benign' SubClassOf 'benign epithelial neoplasm' 'ovarian adenoma benign' SubClassOf 'ovarian epithelial tumor' 'ovarian adenoma benign' SubClassOf 'Benign Ovarian Neoplasm' http://www.ebi.ac.uk/efo/EFO_0002508 Parkinson's disease 'Parkinson's disease' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1000721 kernicterus due to isoimmunization 'kernicterus due to isoimmunization' SubClassOf 'kernicterus' 'kernicterus due to isoimmunization' SubClassOf 'genetic skin disease' 'kernicterus due to isoimmunization' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018477 http://purl.obolibrary.org/obo/MONDO_0043243 leukoplakia 'leukoplakia' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_1671 Diastematomyelia 'Diastematomyelia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1699 Trisomy 12p 'Trisomy 12p' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_33572 5-oxoprolinase deficiency '5-oxoprolinase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_33573 Gamma-glutamyl transpeptidase deficiency 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_1935 Early myoclonic encephalopathy 'Early myoclonic encephalopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1951 Epilepsy telangiectasia 'Epilepsy telangiectasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1948 Epilepsy - microcephaly - skeletal dysplasia 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79113 Mandibulofacial dysostosis-microcephaly syndrome 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_251038 3q29 microduplication '3q29 microduplication' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_263004 Partial duplication of the long arm of chromosome 22 'Partial duplication of the long arm of chromosome 22' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.ebi.ac.uk/efo/EFO_0000216 acinar cell carcinoma 'acinar cell carcinoma' SubClassOf 'disease by anatomical system' http://www.ebi.ac.uk/efo/EFO_0000232 adenoma 'adenoma' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_1995 Cleft lip - retinopathy 'Cleft lip - retinopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_67036 Autosomal dominant optic atrophy and cataract 'Autosomal dominant optic atrophy and cataract' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_67041 Hyaluronidase deficiency 'Hyaluronidase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_1825 Epiphyseal dysplasia - hearing loss - dysmorphism 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1856 Spondyloperipheral dysplasia - short ulna 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'collagenopathy type 2 alpha 1' 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'hereditary disorder of connective tissue' 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'collagenopathy type 2 alpha 1' http://www.orpha.net/ORDO/Orphanet_289573 Fatal multiple mitochondrial dysfunction syndrome 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000520 Sarcomatoid Carcinoma 'Sarcomatoid Carcinoma' SubClassOf 'malignant spindle cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy 'neurocristopathy' SubClassOf 'disease by cellular process disrupted' http://www.ebi.ac.uk/efo/EFO_0002690 systemic lupus erythematosus 'systemic lupus erythematosus' SubClassOf 'systemic autoimmune disease' http://www.ebi.ac.uk/efo/EFO_0002689 antiphospholipid syndrome 'antiphospholipid syndrome' SubClassOf 'syndromic disease' 'antiphospholipid syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'antiphospholipid syndrome' SubClassOf 'hypersensitivity reaction disease' 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 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0031012 autoimmune uveitis 'autoimmune uveitis' SubClassOf 'autoimmune disease of ear, nose and throat' 'autoimmune uveitis' SubClassOf 'uveitis' 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' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1865 Dyssegmental dysplasia, Silverman-Handmaker type 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Qualitative or quantitative defects of perlecan' http://www.orpha.net/ORDO/Orphanet_1858 Skeletal dysplasia - epilepsy - short stature 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1891 Intellectual disability - spasticity - ectrodactyly 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1897 EEM syndrome 'EEM syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002360 chondroma 'chondroma' SubClassOf 'cartilage disease' 'chondroma' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0002373 benign mesothelioma 'benign mesothelioma' SubClassOf 'mesothelioma' 'benign mesothelioma' SubClassOf 'benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0005296 migraine without aura 'migraine without aura' SubClassOf 'Rare genetic neurological disorder' 'migraine without aura' SubClassOf 'migraine with or without aura, susceptibility to' 'migraine without aura' SubClassOf 'migraine disorder' 'migraine without aura' SubClassOf 'migraine disorder' http://purl.obolibrary.org/obo/MONDO_0014397 combined oxidative phosphorylation defect type 20 'combined oxidative phosphorylation defect type 20' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_90642 Syndromic genetic deafness 'Syndromic genetic deafness' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_90641 Mitochondrial non-syndromic sensorineural deafness 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_364028 X-linked intellectual disability due to GRIA3 anomalies 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_90653 Stickler syndrome type 1 'Stickler syndrome type 1' SubClassOf 'Type 2 collagen-related bone disorder' 'Stickler syndrome type 1' SubClassOf 'collagenopathy type 2 alpha 1' 'Stickler syndrome type 1' SubClassOf 'Type 2 collagen-related bone disorder' 'Stickler syndrome type 1' SubClassOf 'collagenopathy type 2 alpha 1' 'Stickler syndrome type 1' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0014405 STING-associated vasculopathy with onset in infancy 'STING-associated vasculopathy with onset in infancy' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0002436 nasal disorder 'nasal disorder' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_90673 Hypothyroidism due to TSH receptor mutations 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'disease of signal transduction' 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'disease of receptor activity' http://www.orpha.net/ORDO/Orphanet_99013 Autosomal recessive spastic paraplegia type 7 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_99027 Adult-onset autosomal dominant leukodystrophy 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002247 factor X deficiency 'factor X deficiency' SubClassOf 'disease of catalytic activity' http://purl.obolibrary.org/obo/MONDO_0002245 blood platelet disease 'blood platelet disease' SubClassOf 'disease by cell type' http://purl.obolibrary.org/obo/MONDO_0002241 factor XIII deficiency 'factor XIII deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_207052 Qualitative or quantitative defects of sarcoglycan 'Qualitative or quantitative defects of sarcoglycan' SubClassOf 'disease of macromolecular complex' http://purl.obolibrary.org/obo/MONDO_0002176 connective tissue cancer 'connective tissue cancer' SubClassOf 'musculoskeletal system cancer' 'connective tissue cancer' SubClassOf 'connective tissue neoplasm' http://www.orpha.net/ORDO/Orphanet_391307 Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_391351 SURF1-related Charcot-Marie-Tooth disease type 4 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_63260 Craniorachischisis 'Craniorachischisis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_317425 Severe combined immunodeficiency due to DNA-PKcs deficiency 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disease 'leukocyte disease' SubClassOf 'disease by cell type' http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease 'overlapping connective tissue disease' SubClassOf 'systemic autoimmune disease' 'overlapping connective tissue disease' SubClassOf 'connective tissue disease' 'overlapping connective tissue disease' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0002060 intraductal papilloma 'intraductal papilloma' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'disease of catalytic activity' http://purl.obolibrary.org/obo/MONDO_0004557 congenital fibrosarcoma 'congenital fibrosarcoma' SubClassOf 'conventional fibrosarcoma' http://www.orpha.net/ORDO/Orphanet_401923 9q31.1q31.3 microdeletion syndrome '9q31.1q31.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_352487 Digital anomalies - intellectual disability - short stature 'Digital anomalies - intellectual disability - short stature' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0005627 perianal Crohn's disease 'perianal Crohn's disease' SubClassOf 'disorder by anatomical region' http://www.orpha.net/ORDO/Orphanet_401866 Spasticity-ataxia-gait anomalies syndrome 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0004603 collagenopathy 'collagenopathy' SubClassOf 'disease of macromolecular complex' http://www.ebi.ac.uk/efo/EFO_0005699 desmoplastic medulloblastoma 'desmoplastic medulloblastoma' SubClassOf 'medulloblastoma' 'desmoplastic medulloblastoma' SubClassOf 'medulloblastoma' http://www.ebi.ac.uk/efo/EFO_0003063 polymyositis 'polymyositis' SubClassOf 'hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_77261 Gaucher disease type 3 'Gaucher disease type 3' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_77260 Gaucher disease type 2 'Gaucher disease type 2' SubClassOf 'disease of catalytic activity' http://purl.obolibrary.org/obo/MONDO_0016402 mitochondrial disease with epilepsy 'mitochondrial disease with epilepsy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016474 drug-induced lupus erythematosus 'drug-induced lupus erythematosus' SubClassOf 'autoimmune disease with skin involvement' 'drug-induced lupus erythematosus' SubClassOf 'systemic disease with skin involvement' http://purl.obolibrary.org/obo/MONDO_0100246 migraine with or without aura, susceptibility to 'migraine with or without aura, susceptibility to' SubClassOf 'inherited disease susceptibility' http://www.orpha.net/ORDO/Orphanet_401973 MEND syndrome 'MEND syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_352530 Intellectual disability - obesity - brain malformations - facial dysmorphism 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0005555 gamma chain deficiency 'gamma chain deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_352577 Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_364577 Intellectual disability-brachydactyly-Pierre Robin syndrome 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency 'mitochondrial complex I deficiency' SubClassOf 'disease of macromolecular complex' http://www.orpha.net/ORDO/Orphanet_329802 5p13 microduplication syndrome '5p13 microduplication syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018829 familial schizencephaly 'familial schizencephaly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_293642 Blepharophimosis-intellectual disability syndrome 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' SubClassOf 'systemic autoimmune disease' http://www.orpha.net/ORDO/Orphanet_77299 Microphthalmia - brain atrophy 'Microphthalmia - brain atrophy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_77297 Majeed syndrome 'Majeed syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_90280 Chilblain lupus 'Chilblain lupus' SubClassOf 'systemic autoimmune disease' http://www.orpha.net/ORDO/Orphanet_217017 Zechi-Ceide syndrome 'Zechi-Ceide syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy 'autoimmune retinopathy' SubClassOf 'autoimmune disease of the nervous system' 'autoimmune retinopathy' SubClassOf 'retinopathy' 'autoimmune retinopathy' SubClassOf 'autoimmune disease of ear, nose and throat' http://www.ebi.ac.uk/efo/EFO_0005802 cartilage disease 'cartilage disease' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_0005803 hematologic disease 'hematologic disease' SubClassOf 'disease by anatomical system' 'hematologic disease' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0003105 spina bifida 'spina bifida' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_90340 Blau syndrome 'Blau syndrome' SubClassOf 'skin sarcoidosis' 'Blau syndrome' SubClassOf 'genetic skin disease' 'Blau syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Blau syndrome' SubClassOf 'autoimmune disease with skin involvement' 'Blau syndrome' SubClassOf 'systemic diseases with panuveitis' 'Blau syndrome' SubClassOf 'systemic diseases with anterior uveitis' 'Blau syndrome' SubClassOf 'autoimmune uveitis' 'Blau syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_3088 Revesz syndrome 'Revesz syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0009663 disease of genitourinary system 'disease of genitourinary system' SubClassOf 'disease by anatomical system' 'disease of genitourinary system' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_3082 Intellectual disability - polydactyly - uncombable hair 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3080 Intellectual disability, Wolff type 'Intellectual disability, Wolff type' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0009685 rectal disease 'rectal disease' SubClassOf 'disorder by anatomical region' http://www.ebi.ac.uk/efo/EFO_0009690 urinary system disease 'urinary system disease' SubClassOf 'disease by anatomical system' 'urinary system disease' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0009676 musculoskeletal system disease 'musculoskeletal system disease' SubClassOf 'disease by anatomical system' 'musculoskeletal system disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_3047 Blepharophimosis-intellectual disability syndrome, SBBYS type 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3044 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3041 Intellectual disability - balding - patella luxation - acromicria 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_75858 MORM syndrome 'MORM syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3051 intellectual disability - sparse hair - brachydactyly 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3079 Intellectual disability, Buenos-Aires type 'Intellectual disability, Buenos-Aires type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3074 Intellectual disability - short stature - hypertelorism 'Intellectual disability - short stature - hypertelorism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3071 Costello syndrome 'Costello syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_73246 Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_87876 sialidosis type II 'sialidosis type II' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85201 Genitopatellar syndrome 'Genitopatellar syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85202 Keutel syndrome 'Keutel syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_99811 Neuronal intestinal pseudoobstruction 'Neuronal intestinal pseudoobstruction' SubClassOf 'neuronal intestinal dysplasia' 'Neuronal intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' 'Neuronal intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' http://www.orpha.net/ORDO/Orphanet_99812 LIG4 syndrome 'LIG4 syndrome' SubClassOf 'non-severe combined immunodeficiency' 'LIG4 syndrome' SubClassOf 'T-B- severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_3038 Delayed speech - facial asymmetry - strabismus - ear lobe creases 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease 'thoracic disease' SubClassOf 'disorder by anatomical region' 'thoracic disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_85293 X-linked intellectual disability, Cabezas type 'X-linked intellectual disability, Cabezas type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85284 BRESEK syndrome 'BRESEK syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85287 X-linked intellectual disability, Siderius type 'X-linked intellectual disability, Siderius type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85286 X-linked intellectual disability, Shashi type 'X-linked intellectual disability, Shashi type' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive renal disease 'hypertensive renal disease' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_97229 Riboflavin transporter deficiency 'Riboflavin transporter deficiency' SubClassOf 'disease of transporter activity' http://www.orpha.net/ORDO/Orphanet_85280 X-linked intellectual disability - cubitus valgus - dysmorphism 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_261494 Kleefstra syndrome 'Kleefstra syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85274 Syndromic X-linked intellectual disability 7 'Syndromic X-linked intellectual disability 7' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85273 X-linked intellectual disability, Abidi type 'X-linked intellectual disability, Abidi type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85275 Microphthalmia - ankyloblepharon - intellectual disability 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85279 Syndromic X-linked intellectual disability due to JARID1C mutation 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0024626 defective phagocytic cell engulfment 'defective phagocytic cell engulfment' SubClassOf 'disease by cellular process disrupted' http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction 'phagocytic cell dysfunction' SubClassOf 'disease by cell type' 'phagocytic cell dysfunction' SubClassOf 'immune system disease' http://www.orpha.net/ORDO/Orphanet_261483 Xq27.3q28 duplication syndrome 'Xq27.3q28 duplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_97297 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0009605 pancreas disease 'pancreas disease' SubClassOf 'disorder by anatomical region' http://www.ebi.ac.uk/efo/EFO_0009529 anemia due to enzyme disorder 'anemia due to enzyme disorder' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_26792 Short chain acyl-CoA dehydrogenase deficiency 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_99796 Subcortical band heterotopia 'Subcortical band heterotopia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_261337 Distal 22q11.2 microduplication syndrome 'Distal 22q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 22' 'Distal 22q11.2 microduplication syndrome' SubClassOf '22q11.2 microduplication syndrome' http://www.orpha.net/ORDO/Orphanet_85128 Bothnia retinal dystrophy 'Bothnia retinal dystrophy' SubClassOf 'Retinal dystrophy' 'Bothnia retinal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100444 http://www.orpha.net/ORDO/Orphanet_85166 Platyspondylic dysplasia, Torrance type 'Platyspondylic dysplasia, Torrance type' SubClassOf 'collagenopathy type 2 alpha 1' 'Platyspondylic dysplasia, Torrance type' SubClassOf 'Type 2 collagen-related bone disorder' 'Platyspondylic dysplasia, Torrance type' SubClassOf 'hereditary disorder of connective tissue' 'Platyspondylic dysplasia, Torrance type' SubClassOf 'collagenopathy type 2 alpha 1' 'Platyspondylic dysplasia, Torrance type' SubClassOf 'Type 2 collagen-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region 'disorder by anatomical region' SubClassOf 'disease' http://purl.obolibrary.org/obo/UBERON_0004167 orbitofrontal cortex 'orbitofrontal cortex' SubClassOf 'part_of' some 'cerebral cortex' http://purl.obolibrary.org/obo/MONDO_0024537 Brown-Vialetto-van Laere syndrome 1 'Brown-Vialetto-van Laere syndrome 1' SubClassOf 'Riboflavin transporter deficiency' http://www.ebi.ac.uk/efo/EFO_1002019 oligoarticular juvenile idiopathic arthritis 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'systemic diseases with anterior uveitis' 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'idiopathic anterior uveitis' http://www.ebi.ac.uk/efo/EFO_1002020 polyarticular juvenile idiopathic arthritis, rheumatoid factor negative 'polyarticular juvenile idiopathic arthritis, rheumatoid factor negative' SubClassOf 'idiopathic anterior uveitis' 'polyarticular juvenile idiopathic arthritis, rheumatoid factor negative' SubClassOf 'systemic diseases with anterior uveitis' http://www.ebi.ac.uk/efo/EFO_0009880 teratogenicity 'teratogenicity' SubClassOf 'congenital abnormality' http://www.ebi.ac.uk/efo/EFO_0007219 congenital syphilis 'congenital syphilis' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_319171 Distal 17p13.1 microdeletion syndrome 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007230 cyclosporiasis 'cyclosporiasis' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_210115 Sterile multifocal osteomyelitis with periostitis and pustulosis 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_319182 Wiedemann-Steiner syndrome 'Wiedemann-Steiner syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007255 Enterovirus infectious disease 'Enterovirus infectious disease' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007287 glucosephosphate dehydrogenase deficiency 'glucosephosphate dehydrogenase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly 'Lissencephaly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3242 Renpenning syndrome 'Renpenning syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3255 Filippi syndrome 'Filippi syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3270 Radio-ulnar synostosis - intellectual disability - hypotonia 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3320 Thrombocytopenia - absent radius 'Thrombocytopenia - absent radius' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_3306 Duplication/inversion 15q11 'Duplication/inversion 15q11' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3304 Fallot complex - intellectual disability - growth delay 'Fallot complex - intellectual disability - growth delay' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3315 Thiopurine S-methyltransferase deficiency 'Thiopurine S-methyltransferase deficiency' SubClassOf 'disease of catalytic activity' http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system 'disease of visual system' SubClassOf 'disease by anatomical system' 'disease of visual system' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0009732 enthesitis-related juvenile idiopathic arthritis 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'systemic diseases with anterior uveitis' 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'idiopathic anterior uveitis' http://www.ebi.ac.uk/efo/EFO_0010729 sun exposure measurement 'sun exposure measurement' SubClassOf 'environmental exposure measurement' 'sun exposure measurement' SubClassOf http://ebi.ac.uk/efo/EFO_0600081 http://purl.obolibrary.org/obo/MONDO_0024299 vitamin D-dependent rickets 'vitamin D-dependent rickets' SubClassOf 'disease of signal transduction' http://www.orpha.net/ORDO/Orphanet_3164 Omphalocele syndrome, Shprintzen-Goldberg type 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007152 Arterivirus infectious disease 'Arterivirus infectious disease' SubClassOf 'viral disease' 'Arterivirus infectious disease' SubClassOf 'Nidovirales infectious disease' http://www.orpha.net/ORDO/Orphanet_36367 Distal monosomy 1q 'Distal monosomy 1q' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3186 Holoprosencephaly - radial heart renal anomalies 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3199 Stimmler syndrome 'Stimmler syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3121 Ruvalcaba syndrome 'Ruvalcaba syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_99900 Long chain acyl-CoA dehydrogenase deficiency 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_3129 Sarcosinemia 'Sarcosinemia' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_3134 SCARF syndrome 'SCARF syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85331 X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3132 Say-Barber-Miller syndrome 'Say-Barber-Miller syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85332 X-linked intellectual disability-retinitis pigmentosa syndrome 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85335 Fried syndrome 'Fried syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3137 Alpha-N-acetylgalactosaminidase deficiency 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'congenital nervous system disorder' 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_85326 X-linked intellectual disability, Stoll type 'X-linked intellectual disability, Stoll type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85325 X-linked intellectual disability, Stevenson type 'X-linked intellectual disability, Stevenson type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85322 X-linked intellectual disability, Pai type 'X-linked intellectual disability, Pai type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85317 X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85319 X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3206 Stüve-Wiedemann syndrome 'Stüve-Wiedemann syndrome' SubClassOf 'Schwartz-Jampel syndrome' http://www.orpha.net/ORDO/Orphanet_3222 Phosphoribosylpyrophosphate synthetase superactivity 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0014916 developmental and epileptic encephalopathy, 41 'developmental and epileptic encephalopathy, 41' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 41' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100455 http://purl.obolibrary.org/obo/MONDO_0014944 short stature-brachydactyly-obesity-global developmental delay syndrome 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft 'orofacial cleft' SubClassOf 'congenital abnormality' http://www.orpha.net/ORDO/Orphanet_319332 Autosomal recessive myogenic arthrogryposis multiplex congenita 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Qualitative or quantitative defects of fukutin' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'myopathy caused by varation in POMGNT1' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'myopathy caused by varation in FKRP' http://purl.obolibrary.org/obo/MONDO_0000188 GLUT1 deficiency syndrome 'GLUT1 deficiency syndrome' SubClassOf 'disease of transporter activity' http://www.ebi.ac.uk/efo/EFO_0007478 scirrhous adenocarcinoma 'scirrhous adenocarcinoma' SubClassOf 'connective tissue cancer' 'scirrhous adenocarcinoma' SubClassOf 'connective tissue neoplasm' http://www.orpha.net/ORDO/Orphanet_330197 Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_329224 Intellectual disability - craniofacial dysmorphism - cryptorchidism 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002813 lipomatous cancer 'lipomatous cancer' SubClassOf 'connective tissue cancer' 'lipomatous cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0014805 Hao-Fountain syndrome 'Hao-Fountain syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures 'prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0700068 myopathy caused by varation in POMGNT1 'myopathy caused by varation in POMGNT1' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by varation in POMGNT1' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' http://purl.obolibrary.org/obo/MONDO_0700066 myopathy caused by varation in FKRP 'myopathy caused by varation in FKRP' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by varation in FKRP' SubClassOf 'Qualitative or quantitative defects of fukutin' http://www.orpha.net/ORDO/Orphanet_329252 Spondylocostal dysostosis - hypospadias - intellectual disability 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_199318 15q13.3 microdeletion syndrome '15q13.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_99329 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_329319 Hereditary thrombocytosis with transverse limb defect 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_75389 Brain malformation - congenital heart disease - postaxial polydactyly 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014707 14q32 duplication syndrome '14q32 duplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' '14q32 duplication syndrome' SubClassOf 'predisposes towards' some 'chronic myeloproliferative disorder' '14q32 duplication syndrome' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'chronic myeloproliferative disorder') '14q32 duplication syndrome' SubClassOf 'inherited disease susceptibility' '14q32 duplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0014701 spondyloepiphyseal dysplasia, Stanescu type 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'collagenopathy type 2 alpha 1' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'Type 2 collagen-related bone disorder' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'collagenopathy type 2 alpha 1' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'congenital nervous system disorder' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_199337 Pancreatic insufficiency - anemia - hyperostosis 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'congenital anemia' http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf 'disorder by anatomical region' 'visceral Leishmaniasis' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_51636 WHIM syndrome 'WHIM syndrome' SubClassOf 'Constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'systemic autoimmune disease' 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 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002676 adult fibrosarcoma 'adult fibrosarcoma' SubClassOf 'conventional fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0002678 pediatric fibrosarcoma 'pediatric fibrosarcoma' SubClassOf 'adult fibrosarcoma' 'pediatric fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0002468 hyperimmunoglobulin syndrome 'hyperimmunoglobulin syndrome' SubClassOf 'disease of macromolecular complex' http://www.orpha.net/ORDO/Orphanet_163596 Hb Bart's hydrops fetalis 'Hb Bart's hydrops fetalis' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_75501 Ehlers-Danlos syndrome, fibronectinemic type 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0014532 autosomal dominant mitochondrial myopathy with exercise intolerance 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007547 Wissler's syndrome 'Wissler's syndrome' SubClassOf 'rheumatic fever' 'Wissler's syndrome' SubClassOf 'rheumatic disease' http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Congenital hydrocephalus' 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'brain disease' 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Genetic non-syndromic central nervous system malformation' http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf 'congenital hematological disorder' http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy 'rasopathy' SubClassOf 'disease of signal transduction' http://purl.obolibrary.org/obo/MONDO_0022800 collagenopathy type 2 alpha 1 'collagenopathy type 2 alpha 1' SubClassOf 'genetic disorder' 'collagenopathy type 2 alpha 1' SubClassOf 'collagenopathy' http://www.orpha.net/ORDO/Orphanet_2673 Neurofaciodigitorenal syndrome 'Neurofaciodigitorenal syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2676 Neuroectodermal-endocrine syndrome 'Neuroectodermal-endocrine syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2690 Neutropenia - monocytopenia - deafness 'Neutropenia - monocytopenia - deafness' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_166105 FASTKD2-related infantile mitochondrial encephalomyopathy 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2658 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2601 Myopathy - growth delay - intellectual disability - hypospadias 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2614 Nail-patella syndrome 'Nail-patella syndrome' SubClassOf 'Primary glomerular disease' 'Nail-patella syndrome' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_2612 Linear nevus sebaceus syndrome 'Linear nevus sebaceus syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_276432 Premature aging appearance-developmental delay-cardiac arrhythmia syndrome 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'congenital nervous system disorder' 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_2598 Mitochondrial myopathy and sideroblastic anemia 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_2556 Microphthalmia with linear skin defects syndrome 'Microphthalmia with linear skin defects syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020122 acquired idiopathic inflammatory myopathy 'acquired idiopathic inflammatory myopathy' SubClassOf 'systemic autoimmune disease' 'acquired idiopathic inflammatory myopathy' SubClassOf 'autoimmune disease of musculoskeletal system' http://www.orpha.net/ORDO/Orphanet_2576 MULIBREY nanism 'MULIBREY nanism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2588 Myhre syndrome 'Myhre syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2511 Microbrachycephaly - ptosis - cleft lip 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2521 Microcephaly - cleft palate 'Microcephaly - cleft palate' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2519 Microcephaly - seizures - intellectual disability - heart disease 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_166011 Multiple epiphyseal dysplasia, Beighton type 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Type 2 collagen-related bone disorder' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'collagenopathy type 2 alpha 1' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'hereditary disorder of connective tissue' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Type 2 collagen-related bone disorder' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'collagenopathy type 2 alpha 1' http://www.orpha.net/ORDO/Orphanet_168615 Hereditary persistence of alpha-fetoprotein 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'biological anomaly without phenotypic characterization' 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_168612 Congenital deficiency in alpha-fetoprotein 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'biological anomaly without phenotypic characterization' 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2802 X-linked sideroblastic anemia with ataxia 'X-linked sideroblastic anemia with ataxia' SubClassOf 'congenital nervous system disorder' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'congenital nervous system disorder' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'congenital agammaglobulinemia' http://www.orpha.net/ORDO/Orphanet_2804 W syndrome 'W syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2824 Paraplegia - intellectual disability - hyperkeratosis 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262191 Partial duplication of chromosome 1 'Partial duplication of chromosome 1' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_262196 Partial duplication of chromosome 2 'Partial duplication of chromosome 2' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_227796 Fundus albipunctatus 'Fundus albipunctatus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100444 'Fundus albipunctatus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100443 http://purl.obolibrary.org/obo/MONDO_0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'myopathy caused by varation in POMGNT1' http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation 'central nervous system malformation' SubClassOf 'congenital nervous system disorder' 'central nervous system malformation' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_2871 Pfeiffer-Palm-Teller syndrome 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2875 Phakomatosis pigmentovascularis 'Phakomatosis pigmentovascularis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2874 Phakomatosis pigmentokeratotica 'Phakomatosis pigmentokeratotica' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2872 Cardiocranial syndrome, Pfeiffer type 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_178345 Aromatase excess syndrome 'Aromatase excess syndrome' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_2898 X-linked intellectual disability - plagiocephaly 'X-linked intellectual disability - plagiocephaly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2896 Pitt-Hopkins syndrome 'Pitt-Hopkins syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/CL_0005019 pancreatic epsilon cell 'pancreatic epsilon cell' SubClassOf 'secretory cell' 'pancreatic epsilon cell' SubClassOf 'endocrine cell' http://www.orpha.net/ORDO/Orphanet_2865 Short stature - webbed neck - heart disease 'Short stature - webbed neck - heart disease' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001455 auditory system disease 'auditory system disease' SubClassOf 'disease by anatomical system' http://www.ebi.ac.uk/efo/EFO_1001451 X-Linked Combined Immunodeficiency Diseases 'X-Linked Combined Immunodeficiency Diseases' SubClassOf 'Combined T and B cell immunodeficiency' 'X-Linked Combined Immunodeficiency Diseases' SubClassOf 'T-B+ severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_2756 Orofaciodigital syndrome type 10 'Orofaciodigital syndrome type 10' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2714 Oculo-palato-cerebral syndrome 'Oculo-palato-cerebral syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2707 Oculocerebrofacial syndrome, Kaufman type 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2718 Oculotrichodysplasia 'Oculotrichodysplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2736 Lethal omphalocele-cleft palate syndrome 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2729 Okamoto syndrome 'Okamoto syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2743 Ophthalmoplegia - intellectual disability - lingua scrotalis 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001129 proliferative vitreoretinopathy 'proliferative vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' 'proliferative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100450 http://www.ebi.ac.uk/efo/EFO_1001148 relapsing polychondritis 'relapsing polychondritis' SubClassOf 'autoimmune disease of musculoskeletal system' 'relapsing polychondritis' SubClassOf 'systemic autoimmune disease' 'relapsing polychondritis' SubClassOf 'cartilage disease' http://www.orpha.net/ORDO/Orphanet_2156 Hirsutism-skeletal dysplasia-intellectual disability syndrome 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2152 Mowat-Wilson syndrome 'Mowat-Wilson syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2166 Holoprosencephaly - postaxial polydactyly 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2162 Holoprosencephaly 'Holoprosencephaly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2172 Microcephaly - glomerulonephritis - marfanoid habitus 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2234 Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2261 Hypospadias - intellectual disability, Goldblatt type 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2269 Ichthyosis - alopecia - eclabion - ectropion - intellectual disability 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2213 Hypertelorism-microtia-facial clefting syndrome 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2209 Maternal hyperphenylalaninemia 'Maternal hyperphenylalaninemia' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001036 Meckel's diverticulum 'Meckel's diverticulum' SubClassOf 'congenital abnormality' http://www.ebi.ac.uk/efo/EFO_1001047 mouth disease 'mouth disease' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_227976 Autosomal recessive optic atrophy, OPA7 type 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2083 Prominent glabella - microcephaly - hypogenitalism 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2090 GMS syndrome 'GMS syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2044 Floating-Harbor syndrome 'Floating-Harbor syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2053 Freeman-Sheldon syndrome 'Freeman-Sheldon syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2059 Fryns syndrome 'Fryns syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2067 GAPO syndrome 'GAPO syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2066 Gamma-aminobutyric acid transaminase deficiency 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'disease of catalytic activity' http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease 'malignant hypertensive renal disease' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_2116 Hartnup disease 'Hartnup disease' SubClassOf 'disease of transporter activity' http://www.orpha.net/ORDO/Orphanet_2115 Harrod syndrome 'Harrod syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262201 Partial duplication of chromosome 3 'Partial duplication of chromosome 3' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_2139 Hernández-Aguirre Negrete syndrome 'Hernández-Aguirre Negrete syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2136 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262206 Partial duplication of chromosome 4 'Partial duplication of chromosome 4' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_2107 Hall-Riggs syndrome 'Hall-Riggs syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001160 rheumatic fever 'rheumatic fever' SubClassOf 'connective tissue disease' 'rheumatic fever' SubClassOf 'skeletal system disease' 'rheumatic fever' SubClassOf 'bacterial disease' 'rheumatic fever' SubClassOf 'rheumatic disease' 'rheumatic fever' SubClassOf 'post-bacterial disorder' http://www.ebi.ac.uk/efo/EFO_1001165 Schnitzler syndrome 'Schnitzler syndrome' SubClassOf 'autoimmune urticaria' 'Schnitzler syndrome' SubClassOf 'unexplained periodic fever syndrome' 'Schnitzler syndrome' SubClassOf 'type IV hypersensitivity disease' 'Schnitzler syndrome' SubClassOf 'autoinflammatory syndrome' 'Schnitzler syndrome' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_1001186 Sneddon syndrome 'Sneddon syndrome' SubClassOf 'autoimmune disease with skin involvement' 'Sneddon syndrome' SubClassOf 'autoimmune disease of cardiovascular system' 'Sneddon syndrome' SubClassOf 'autoimmune disease of the nervous system' 'Sneddon syndrome' SubClassOf 'systemic autoimmune disease' http://www.orpha.net/ORDO/Orphanet_308448 Aminoacylase deficiency 'Aminoacylase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_199 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_192 Coffin-Lowry syndrome 'Coffin-Lowry syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_357058 Autosomal recessive cutis laxa type 2A 'Autosomal recessive cutis laxa type 2A' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_104 Leber hereditary optic neuropathy 'Leber hereditary optic neuropathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_118 Beta-mannosidosis 'Beta-mannosidosis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_115 Congenital contractural arachnodactyly 'Congenital contractural arachnodactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_113 Bazex-Dupré-Christol syndrome 'Bazex-Dupré-Christol syndrome' SubClassOf 'congenital nervous system disorder' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Malignant tumor of palpebral epidermis' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Genetic skin tumor' 'Bazex-Dupré-Christol syndrome' SubClassOf 'nervous system cancer' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Rare genetic neurological disorder' 'Bazex-Dupré-Christol syndrome' SubClassOf 'head and neck malignant neoplasia' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_109 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_127 Borjeson-Forssman-Lehmann syndrome 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_125 Bloom syndrome 'Bloom syndrome' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia 'Blackfan-Diamond anemia' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_139 CHILD syndrome 'CHILD syndrome' SubClassOf 'congenital nervous system disorder' 'CHILD syndrome' SubClassOf 'benign neoplasm of eye' 'CHILD syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_154 Familial isolated dilated cardiomyopathy 'Familial isolated dilated cardiomyopathy' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Familial isolated dilated cardiomyopathy' SubClassOf 'Qualitative or quantitative defects of dystrophin' http://www.orpha.net/ORDO/Orphanet_71289 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_357001 19p13.13 microdeletion syndrome '19p13.13 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality 'congenital abnormality' SubClassOf 'has modifier' some 'congenital' 'congenital abnormality' SubClassOf 'disease' 'congenital abnormality' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2471 McDonough syndrome 'McDonough syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2479 Megalocornea-intellectual disability syndrome 'Megalocornea-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2484 Osteodysplasty, Melnick-Needles type 'Osteodysplasty, Melnick-Needles type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2489 Upper limb defect - eye and ear abnormalities 'Upper limb defect - eye and ear abnormalities' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000858 neuronal intestinal dysplasia 'neuronal intestinal dysplasia' SubClassOf 'colonic disease' http://www.orpha.net/ORDO/Orphanet_2437 Split hand - urinary anomalies - spina bifida 'Split hand - urinary anomalies - spina bifida' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2429 Macrocephaly - spastic paraplegia - dysmorphism 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000890 Zika virus congenital syndrome 'Zika virus congenital syndrome' SubClassOf 'vector-borne disease' 'Zika virus congenital syndrome' SubClassOf 'congenital abnormality' 'Zika virus congenital syndrome' SubClassOf 'post-viral disorder' 'Zika virus congenital syndrome' SubClassOf 'disease arises from feature' some 'Zika virus infectious disease' 'Zika virus congenital syndrome' SubClassOf 'post-infectious syndrome' 'Zika virus congenital syndrome' EquivalentTo 'congenital abnormality' and ('disease arises from feature' some 'Zika virus infectious disease') 'Zika virus congenital syndrome' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_2463 Marfanoid habitus - intellectual disability, autosomal recessive 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2462 Shprintzen-Goldberg syndrome 'Shprintzen-Goldberg syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2461 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_370079 Proximal 16p11.2 microduplication syndrome 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2409 Lowry-MacLean syndrome 'Lowry-MacLean syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010284 Armfield syndrome 'Armfield syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010283 syndromic X-linked intellectual disability Lubs type 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_357175 Short ulna - dysmorphism - hypotonia - intellectual disability 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001002 kernicterus 'kernicterus' SubClassOf 'brain disease' 'kernicterus' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_2282 Dysmorphism - short stature - deafness - disorder of sex development 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2364 Glycogen storage disease due to lactate dehydrogenase deficiency 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_2377 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2316 Johnson neuroectodermal syndrome 'Johnson neuroectodermal syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2315 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2308 Jacobsen syndrome 'Jacobsen syndrome' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_2328 Kapur-Toriello syndrome 'Kapur-Toriello syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2323 Sanjad-Sakati syndrome 'Sanjad-Sakati syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2322 Kabuki syndrome 'Kabuki syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2332 KBG syndrome 'KBG syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_293939 Distal Xq28 microduplication syndrome 'Distal Xq28 microduplication syndrome' SubClassOf 'congenital nervous system disorder' 'Distal Xq28 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Distal Xq28 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' 'Distal Xq28 microduplication syndrome' SubClassOf 'syndromic intellectual disability' 'Distal Xq28 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010436 http://www.orpha.net/ORDO/Orphanet_354 GM1 gangliosidosis 'GM1 gangliosidosis' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_351 Galactosialidosis 'Galactosialidosis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_217340 17q21.31 microduplication syndrome '17q21.31 microduplication syndrome' SubClassOf 'congenital nervous system disorder' '17q21.31 microduplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_217346 19q13.11 microdeletion syndrome '19q13.11 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_364 Glycogen storage disease due to glucose-6-phosphatase deficiency 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_217377 Microduplication Xp11.22-p11.23 syndrome 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_379 Chronic granulomatous disease 'Chronic granulomatous disease' SubClassOf 'systemic diseases with panuveitis' 'Chronic granulomatous disease' SubClassOf 'systemic diseases with anterior uveitis' 'Chronic granulomatous disease' SubClassOf 'disease of macromolecular complex' 'Chronic granulomatous disease' SubClassOf 'systemic diseases with posterior uveitis' 'Chronic granulomatous disease' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_377 Gorlin syndrome 'Gorlin syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_370 Glycogen storage disease due to phosphorylase kinase deficiency 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_382 Guanidinoacetate methyltransferase deficiency 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_254343 Autosomal recessive spastic ataxia - optic atrophy - dysarthria 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_394 Classical homocystinuria 'Classical homocystinuria' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_217385 17p13.3 microduplication syndrome '17p13.3 microduplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' '17p13.3 microduplication syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_435 Ito hypomelanosis 'Ito hypomelanosis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_226 Dihydropteridine reductase deficiency 'Dihydropteridine reductase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_268817 Cephalocele 'Cephalocele' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_235 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction 'disease of signal transduction' SubClassOf 'disease by cellular process disrupted' http://purl.obolibrary.org/obo/MONDO_0044988 hip region disease 'hip region disease' SubClassOf 'disorder by anatomical region' 'hip region disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement 'autoinflammatory syndrome with skin involvement' SubClassOf 'systemic disease with skin involvement' http://www.orpha.net/ORDO/Orphanet_277 Severe combined immunodeficiency due to adenosine deaminase deficiency 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_275 Severe combined immunodeficiency due to DCLRE1C deficiency 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease 'upper digestive tract disease' SubClassOf 'disease by anatomical system' 'upper digestive tract disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement 'systemic disease with skin involvement' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle 'disease of membrane bound organelle' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder 'abdominal and pelvic region disorder' SubClassOf 'disorder by anatomical region' 'abdominal and pelvic region disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder 'limb disorder' SubClassOf 'disorder by anatomical region' 'limb disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0017375 congenital enterovirus infection 'congenital enterovirus infection' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex 'disease of macromolecular complex' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex 'disease of supramolecular complex' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type 'disease by cell type' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity 'disease of catalytic activity' SubClassOf 'disease by molecular activity disrupted' http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity 'disease of transporter activity' SubClassOf 'disease by molecular activity disrupted' http://purl.obolibrary.org/obo/MONDO_0044977 disease of receptor activity 'disease of receptor activity' SubClassOf 'disease by molecular activity disrupted' http://purl.obolibrary.org/obo/MONDO_0017398 3MC syndrome '3MC syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_324 Fabry disease 'Fabry disease' SubClassOf 'disease of catalytic activity' 'Fabry disease' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_588 Muscle-eye-brain disease 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Muscle-eye-brain disease' SubClassOf 'myopathy caused by varation in FKRP' 'Muscle-eye-brain disease' SubClassOf 'myopathy caused by varation in POMGNT1' http://www.orpha.net/ORDO/Orphanet_585 Multiple sulfatase deficiency 'Multiple sulfatase deficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_584 Mucopolysaccharidosis type 7 'Mucopolysaccharidosis type 7' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_583 Mucopolysaccharidosis type 6 'Mucopolysaccharidosis type 6' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_581 Mucopolysaccharidosis type 3 'Mucopolysaccharidosis type 3' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_580 Mucopolysaccharidosis type 2 'Mucopolysaccharidosis type 2' SubClassOf 'disease of catalytic activity' 'Mucopolysaccharidosis type 2' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_254519 Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_254516 Motor developmental delay due to 14q32.2 paternally expressed gene defect 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis 'systemic diseases with posterior uveitis' SubClassOf 'posterior uveitis' http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis 'systemic diseases with anterior uveitis' SubClassOf 'anterior uveitis' http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis 'systemic diseases with panuveitis' SubClassOf 'panuveitis' http://purl.obolibrary.org/obo/MONDO_0017264 syndromic recessive X-linked ichthyosis 'syndromic recessive X-linked ichthyosis' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_32960 Tumor necrosis factor receptor 1 associated periodic syndrome 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease 'IgG4-related disease' SubClassOf 'systemic autoimmune disease' 'IgG4-related disease' SubClassOf 'type II hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_640 Hereditary neuropathy with liability to pressure palsies 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_636 Neurofibromatosis type 1 'Neurofibromatosis type 1' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_183707 Neutrophil immunodeficiency syndrome 'Neutrophil immunodeficiency syndrome' SubClassOf 'T-B- severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_699 Pearson syndrome 'Pearson syndrome' SubClassOf 'Constitutional sideroblastic anemia' 'Pearson syndrome' SubClassOf 'Constitutional neutropenia' 'Pearson syndrome' SubClassOf 'Metabolic disease with intestinal involvement' 'Pearson syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Pearson syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Pearson syndrome' SubClassOf 'Constitutional sideroblastic anemia' 'Pearson syndrome' SubClassOf 'Metabolic disease with intestinal involvement' 'Pearson syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Pearson syndrome' SubClassOf 'syndromic disease' 'Pearson syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_93921 Neurofibromatosis type 3 'Neurofibromatosis type 3' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_91133 Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_464 Incontinentia pigmenti 'Incontinentia pigmenti' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_461 Recessive X-linked ichthyosis 'Recessive X-linked ichthyosis' SubClassOf 'disease of catalytic activity' http://purl.obolibrary.org/obo/MONDO_0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_487 Krabbe disease 'Krabbe disease' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_485 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'Type 2 collagen-related bone disorder' 'Kniest dysplasia' SubClassOf 'collagenopathy type 2 alpha 1' 'Kniest dysplasia' SubClassOf 'hereditary disorder of connective tissue' 'Kniest dysplasia' SubClassOf 'Type 2 collagen-related bone disorder' 'Kniest dysplasia' SubClassOf 'collagenopathy type 2 alpha 1' http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis 'developmental defect during embryogenesis' SubClassOf 'congenital abnormality' http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome 'autoinflammatory syndrome' SubClassOf 'disease of macromolecular complex' http://purl.obolibrary.org/obo/MONDO_0044738 Gabriele de Vries syndrome 'Gabriele de Vries syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_502 Langer-Giedion syndrome 'Langer-Giedion syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0029144 extraoral halitosis due to methanethiol oxidase deficiency 'extraoral halitosis due to methanethiol oxidase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_534 Oculocerebrorenal syndrome 'Oculocerebrorenal syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_579 Mucopolysaccharidosis type 1 'Mucopolysaccharidosis type 1' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_578 Mucolipidosis type IV 'Mucolipidosis type IV' SubClassOf 'disease of transporter activity' 'Mucolipidosis type IV' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0003900 ciliopathy 'ciliopathy' SubClassOf 'disease of membrane bound organelle' http://www.orpha.net/ORDO/Orphanet_93297 Hypochondrogenesis 'Hypochondrogenesis' SubClassOf 'Type 2 collagen-related bone disorder' 'Hypochondrogenesis' SubClassOf 'collagenopathy type 2 alpha 1' 'Hypochondrogenesis' SubClassOf 'hereditary disorder of connective tissue' 'Hypochondrogenesis' SubClassOf 'Type 2 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_93296 Achondrogenesis type 2 'Achondrogenesis type 2' SubClassOf 'Type 2 collagen-related bone disorder' 'Achondrogenesis type 2' SubClassOf 'collagenopathy type 2 alpha 1' 'Achondrogenesis type 2' SubClassOf 'Type 2 collagen-related bone disorder' 'Achondrogenesis type 2' SubClassOf 'hereditary disorder of connective tissue' 'Achondrogenesis type 2' SubClassOf 'collagenopathy type 2 alpha 1' http://www.ebi.ac.uk/efo/EFO_1001993 scleroderma 'scleroderma' SubClassOf 'autoimmune disease with skin involvement' 'scleroderma' SubClassOf 'genetic skin disease' 'scleroderma' SubClassOf 'systemic disease with skin involvement' 'scleroderma' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0044635 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome 'diaph1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'collagenopathy type 2 alpha 1' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'Type 2 collagen-related bone disorder' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'collagenopathy type 2 alpha 1' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'hereditary disorder of connective tissue' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'Type 2 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_6 Isolated 3-methylcrotonyl-CoA carboxylase deficiency 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_869 Triple A syndrome 'Triple A syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_884 Tetrasomy 12p 'Tetrasomy 12p' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_892 Von Hippel-Lindau disease 'Von Hippel-Lindau disease' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0044655 c12orf65-related combined oxidative phosphorylation defect 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_254704 Genetic hyperferritinemia without iron overload 'Genetic hyperferritinemia without iron overload' SubClassOf 'biological anomaly without phenotypic characterization' 'Genetic hyperferritinemia without iron overload' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044699 SIN3A-related intellectual disability syndrome 'SIN3A-related intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_56304 Atelosteogenesis type II 'Atelosteogenesis type II' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_56305 Atelosteogenesis type III 'Atelosteogenesis type III' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_800 Schwartz-Jampel syndrome 'Schwartz-Jampel syndrome' SubClassOf 'autosomal recessive disease' 'Schwartz-Jampel syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_819 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_818 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'disease of catalytic activity' 'Smith-Lemli-Opitz syndrome' SubClassOf 'congenital nervous system disorder' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Systemic disease with cataract' http://www.orpha.net/ORDO/Orphanet_812 sialidosis type I 'sialidosis type I' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'congenital nervous system disorder' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_823 Isolated spina bifida 'Isolated spina bifida' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_851 Paris-Trousseau thrombocytopenia 'Paris-Trousseau thrombocytopenia' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_847 Alpha-thalassemia - X-linked intellectual disability syndrome 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_845 Tay-Sachs disease 'Tay-Sachs disease' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_2921 Preaxial polydactyly - colobomata - intellectual disability 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2920 Oliver syndrome 'Oliver syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2919 Orofaciodigital syndrome type 5 'Orofaciodigital syndrome type 5' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_313772 Early-onset spastic ataxia-neuropathy syndrome 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_745 Hereditary thrombophilia due to congenital protein C deficiency 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_744 Proteus syndrome 'Proteus syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_754 Androgen insensitivity syndrome 'Androgen insensitivity syndrome' SubClassOf 'disease of signal transduction' 'Androgen insensitivity syndrome' SubClassOf 'disease of receptor activity' http://www.orpha.net/ORDO/Orphanet_752 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 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_765 Pyruvate dehydrogenase deficiency 'Pyruvate dehydrogenase deficiency' SubClassOf 'disease of catalytic activity' 'Pyruvate dehydrogenase deficiency' SubClassOf 'disease of macromolecular complex' http://www.ebi.ac.uk/efo/EFO_0003782 motor neuron disease 'motor neuron disease' SubClassOf 'disease by cell type' http://www.ebi.ac.uk/efo/EFO_0003783 progressive bulbar palsy 'progressive bulbar palsy' SubClassOf 'Brown-Vialetto-van Laere syndrome 1' 'progressive bulbar palsy' SubClassOf 'Riboflavin transporter deficiency' http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum 'Pseudoxanthoma elasticum' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_776 X-linked intellectual disability with marfanoid habitus 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia 'Hereditary hemorrhagic telangiectasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_783 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_799 Schizencephaly 'Schizencephaly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_792 X-linked retinoschisis 'X-linked retinoschisis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2953 Ehlers-Danlos syndrome, musculocontractural type 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_709 Peters plus syndrome 'Peters plus syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_705 Pendred syndrome 'Pendred syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2988 Pterygium colli - intellectual disability - digital anomalies 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2985 Pseudoprogeria syndrome 'Pseudoprogeria syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2983 Disorder of sex development - intellectual disability 'Disorder of sex development - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_93473 Hurler syndrome 'Hurler syndrome' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_93421 Type 2 collagen-related bone disorder 'Type 2 collagen-related bone disorder' SubClassOf 'collagenopathy' 'Type 2 collagen-related bone disorder' SubClassOf 'hereditary disorder of connective tissue' 'Type 2 collagen-related bone disorder' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_254913 Isolated ATP synthase deficiency 'Isolated ATP synthase deficiency' SubClassOf 'disease of macromolecular complex' http://www.orpha.net/ORDO/Orphanet_168588 Hyperandrogenism due to cortisone reductase deficiency 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_68366 Lysosomal disease 'Lysosomal disease' SubClassOf 'disease of membrane bound organelle' http://www.orpha.net/ORDO/Orphanet_93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'collagenopathy type 2 alpha 1' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'collagenopathy type 2 alpha 1' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'hereditary disorder of connective tissue' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Type 2 collagen-related bone disorder' http://purl.obolibrary.org/obo/CL_0000622 acinar cell 'acinar cell' SubClassOf 'pancreatic cell' 'acinar cell' SubClassOf 'located_in' some 'pancreas' http://www.orpha.net/ORDO/Orphanet_68380 Mitochondrial disease 'Mitochondrial disease' SubClassOf 'disease of membrane bound organelle' http://www.orpha.net/ORDO/Orphanet_93316 Spondylometaphyseal dysplasia, Schmidt type 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'hereditary disorder of connective tissue' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'collagenopathy type 2 alpha 1' http://www.ebi.ac.uk/efo/EFO_1001856 Susac Syndrome 'Susac Syndrome' SubClassOf 'systemic autoimmune disease' http://www.ebi.ac.uk/efo/EFO_1001869 dysentery 'dysentery' SubClassOf 'acute disease' 'dysentery' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000252 'dysentery' EquivalentTo 'diarrheal disease' and 'infectious disease' 'dysentery' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000257 http://www.orpha.net/ORDO/Orphanet_983 Testicular regression syndrome 'Testicular regression syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' 'Testicular regression syndrome' SubClassOf '46,XY disorder of gonadal development' 'Testicular regression syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' 'Testicular regression syndrome' SubClassOf '46,XY disorder of gonadal development' http://www.orpha.net/ORDO/Orphanet_168491 Late infantile neuronal ceroid lipofuscinosis 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_990 Agnathia - holoprosencephaly - situs inversus 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0001369 vertebral column structure 'vertebral column structure' SubClassOf 'part_of' some 'vertebral column structure' http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease 'erythrocyte disease' SubClassOf 'disease by cell type' http://www.ebi.ac.uk/efo/EFO_0001379 endocrine system disease 'endocrine system disease' SubClassOf 'disease by anatomical system' 'endocrine system disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_910 Xeroderma pigmentosum 'Xeroderma pigmentosum' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_908 Fragile X syndrome 'Fragile X syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_904 Williams syndrome 'Williams syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome 'Zellweger syndrome' SubClassOf 'congenital nervous system disorder' 'Zellweger syndrome' SubClassOf 'Systemic disease with cataract' http://purl.obolibrary.org/obo/MONDO_0001029 Klippel-Feil syndrome 'Klippel-Feil syndrome' SubClassOf 'congenital abnormality' 'Klippel-Feil syndrome' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_52503 X-linked creatine transporter deficiency 'X-linked creatine transporter deficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_208650 Cryopyrin-associated periodic syndrome 'Cryopyrin-associated periodic syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_137898 Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0006792 Lewy body dementia 'Lewy body dementia' SubClassOf 'dementia' 'Lewy body dementia' SubClassOf 'Genetic dementia' http://www.ebi.ac.uk/efo/EFO_0004145 myopathy 'myopathy' SubClassOf 'disease of supramolecular complex' http://purl.obolibrary.org/obo/MONDO_0017985 congenital radioulnar synostosis 'congenital radioulnar synostosis' SubClassOf 'congenital abnormality' http://purl.obolibrary.org/obo/MONDO_0042968 partial duplication of chromosome 12 'partial duplication of chromosome 12' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/CL_0000202 auditory hair cell 'auditory hair cell' SubClassOf 'epithelial cell' http://www.orpha.net/ORDO/Orphanet_137678 Czech dysplasia, metatarsal type 'Czech dysplasia, metatarsal type' SubClassOf 'collagenopathy type 2 alpha 1' 'Czech dysplasia, metatarsal type' SubClassOf 'Type 2 collagen-related bone disorder' 'Czech dysplasia, metatarsal type' SubClassOf 'collagenopathy type 2 alpha 1' 'Czech dysplasia, metatarsal type' SubClassOf 'hereditary disorder of connective tissue' 'Czech dysplasia, metatarsal type' SubClassOf 'Type 2 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_353217 Epileptic encephalopathy with global cerebral demyelination 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Neonatal epilepsy syndrome' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'developmental and epileptic encephalopathy' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'congenital nervous system disorder' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100455 http://www.orpha.net/ORDO/Orphanet_91494 Macular coloboma - cleft palate - hallux valgus 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to mitochondrial and peroxisomal fission defect 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0030912 intellectual disability, autosomal dominant 47 'intellectual disability, autosomal dominant 47' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_231154 Combined immunodeficiency T+ B+ due to partial RAG1 deficiency 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'non-severe combined immunodeficiency' 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0003122 striatonigral degeneration 'striatonigral degeneration' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_255132 Adult-onset autosomal recessive sideroblastic anemia 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'congenital anemia' http://purl.obolibrary.org/obo/MONDO_0015158 unexplained periodic fever syndrome 'unexplained periodic fever syndrome' SubClassOf 'periodic fever syndrome' 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 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; 'spastic paraplegia, intellectual disability, nystagmus, and obesity;' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/CL_0002351 progenitor cell of endocrine pancreas 'progenitor cell of endocrine pancreas' SubClassOf 'multi fate stem cell' 'progenitor cell of endocrine pancreas' SubClassOf 'cell' http://purl.obolibrary.org/obo/CL_0002354 yolk sac hematopoietic stem cell 'yolk sac hematopoietic stem cell' SubClassOf 'epithelial cell' http://www.ebi.ac.uk/efo/EFO_0004562 cryptorchidism 'cryptorchidism' SubClassOf 'congenital abnormality' http://www.orpha.net/ORDO/Orphanet_243343 Dimethylglycine dehydrogenase deficiency 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_66629 Goldberg-Shprintzen megacolon syndrome 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_42642 PFAPA syndrome 'PFAPA syndrome' SubClassOf 'unexplained periodic fever syndrome' 'PFAPA syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'PFAPA syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'PFAPA syndrome' SubClassOf 'autoinflammatory syndrome' http://www.orpha.net/ORDO/Orphanet_39041 Omenn syndrome 'Omenn syndrome' SubClassOf 'Severe combined immunodeficiency' 'Omenn syndrome' SubClassOf 'T-B- severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_314051 Leukoencephalopathy - thalamus and brainstem anomalies - high lactate 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_314034 7p22.1 microduplication syndrome '7p22.1 microduplication syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_284160 8q21.11 microdeletion syndrome '8q21.11 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_284180 Xp22.13p22.2 duplication syndrome 'Xp22.13p22.2 duplication syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_98587 Palpebral lentiginosis 'Palpebral lentiginosis' SubClassOf 'benign tumor of palpebral epidermis' 'Palpebral lentiginosis' SubClassOf 'Rare genetic neurological disorder' 'Palpebral lentiginosis' SubClassOf 'palpebral epidermal tumor' 'Palpebral lentiginosis' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_262767 Partial trisomy of the short arm of chromosome 9 'Partial trisomy of the short arm of chromosome 9' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_225703 Mitochondrial disease with peripheral neuropathy 'Mitochondrial disease with peripheral neuropathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262687 Partial duplication of chromosome 19 'Partial duplication of chromosome 19' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_262672 Partial duplication of chromosome 16 'Partial duplication of chromosome 16' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_262677 Partial duplication of chromosome 17 'Partial duplication of chromosome 17' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_262648 Partial duplication of chromosome 10 'Partial duplication of chromosome 10' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_262653 Partial duplication of chromosome 11 'Partial duplication of chromosome 11' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0001858 Tietze syndrome 'Tietze syndrome' SubClassOf 'cartilage disease' http://www.orpha.net/ORDO/Orphanet_369837 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease 'purine metabolism disease' SubClassOf 'metabolic disease' 'purine metabolism disease' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_262692 Partial trisomy of chromosome 20 'Partial trisomy of chromosome 20' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_98456 Dense granule disease 'Dense granule disease' SubClassOf 'disease of membrane bound organelle' http://www.orpha.net/ORDO/Orphanet_98455 Alpha granule disease 'Alpha granule disease' SubClassOf 'disease of membrane bound organelle' http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome 'Pierpont syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013877 mitochondrial pyruvate carrier deficiency 'mitochondrial pyruvate carrier deficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262638 Partial duplication of chromosome 8 'Partial duplication of chromosome 8' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_262628 Partial duplication of chromosome 6 'Partial duplication of chromosome 6' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_262633 Partial duplication of chromosome 7 'Partial duplication of chromosome 7' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.ebi.ac.uk/efo/EFO_0008549 digestive system neoplasm 'digestive system neoplasm' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_96103 Distal trisomy 11q 'Distal trisomy 11q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022173 http://www.orpha.net/ORDO/Orphanet_96105 Distal trisomy 13q 'Distal trisomy 13q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022177 http://www.orpha.net/ORDO/Orphanet_308520 Glycogen storage disease due to glycogen synthase deficiency 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_2008 Acro-cardio-facial syndrome 'Acro-cardio-facial syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2015 Cleft palate - short stature - vertebral anomalies 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_98791 Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'congenital anemia' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262950 Partial duplication of the long arm of chromosome 15 'Partial duplication of the long arm of chromosome 15' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_250977 AICA-ribosiduria 'AICA-ribosiduria' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262941 Partial duplication of the long arm of chromosome 14 'Partial duplication of the long arm of chromosome 14' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_49827 Thiamine-responsive megaloblastic anemia syndrome 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_250994 1q21.1 microduplication syndrome '1q21.1 microduplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_262977 Partial trisomy of the long arm of chromosome 18 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_404448 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_404443 Tall stature-intellectual disability-facial dysmorphism syndrome 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0008416 susceptibility to rheumatic fever measurement 'susceptibility to rheumatic fever measurement' SubClassOf 'infectious disease biomarker' http://www.orpha.net/ORDO/Orphanet_404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262905 Partial trisomy of the long arm of chromosome 9 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_404473 Severe intellectual disability-progressive spastic diplegia syndrome 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_250932 Autosomal dominant optic atrophy and peripheral neuropathy 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_404454 Alacrimia-choreoathetosis-liver dysfunction syndrome 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_47045 Familial cold urticaria 'Familial cold urticaria' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_98643 Systemic disease with cataract 'Systemic disease with cataract' SubClassOf 'Syndromic cataract' 'Systemic disease with cataract' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_98645 Cerebral disease with cataract 'Cerebral disease with cataract' SubClassOf 'Systemic disease with cataract' 'Cerebral disease with cataract' SubClassOf 'Systemic disease with cataract' 'Cerebral disease with cataract' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_98644 Cataract associated with a metabolic disease 'Cataract associated with a metabolic disease' SubClassOf 'Systemic disease with cataract' 'Cataract associated with a metabolic disease' SubClassOf 'Syndromic cataract' 'Cataract associated with a metabolic disease' SubClassOf 'Systemic disease with cataract' http://www.orpha.net/ORDO/Orphanet_98647 Cardiac disease with cataract 'Cardiac disease with cataract' SubClassOf 'Systemic disease with cataract' 'Cardiac disease with cataract' SubClassOf 'Systemic disease with cataract' http://www.orpha.net/ORDO/Orphanet_98646 Renal disease with cataract 'Renal disease with cataract' SubClassOf 'Systemic disease with cataract' 'Renal disease with cataract' SubClassOf 'Systemic disease with cataract' http://www.orpha.net/ORDO/Orphanet_98649 Dentocutaneous disease with cataract 'Dentocutaneous disease with cataract' SubClassOf 'Systemic disease with cataract' 'Dentocutaneous disease with cataract' SubClassOf 'Systemic disease with cataract' 'Dentocutaneous disease with cataract' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_98648 Musculoskeletal disease with cataract 'Musculoskeletal disease with cataract' SubClassOf 'Systemic disease with cataract' 'Musculoskeletal disease with cataract' SubClassOf 'Systemic disease with cataract' http://www.orpha.net/ORDO/Orphanet_35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_247262 Hyperphosphatasia-intellectual disability syndrome 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_96078 16p13.3 microduplication syndrome '16p13.3 microduplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_98673 Autosomal dominant optic atrophy, classic type 'Autosomal dominant optic atrophy, classic type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262869 Partial trisomy of the long arm of chromosome 5 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_96097 Distal trisomy 5q 'Distal trisomy 5q' SubClassOf 'Partial duplication of the long arm of chromosome 4' http://www.orpha.net/ORDO/Orphanet_262860 Partial duplication of the long arm of chromosome 4 'Partial duplication of the long arm of chromosome 4' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0025513 autoimmune urticaria 'autoimmune urticaria' SubClassOf 'autoimmune disease with skin involvement' 'autoimmune urticaria' SubClassOf 'urticaria' http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome 'DYRK1A-related intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 'developmental and epileptic encephalopathy, 12' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100455 http://www.orpha.net/ORDO/Orphanet_247522 Primary ciliary dyskinesia - retinitis pigmentosa 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100437 http://www.orpha.net/ORDO/Orphanet_101081 Charcot-Marie-Tooth disease type 1A 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_88628 Posterior column ataxia - retinitis pigmentosa 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Posterior column ataxia - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100449 http://www.orpha.net/ORDO/Orphanet_101109 Spinocerebellar ataxia type 28 'Spinocerebellar ataxia type 28' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0008618 Medullary Cystic Kidney Disease Type II 'Medullary Cystic Kidney Disease Type II' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'Medullary Cystic Kidney Disease Type II' SubClassOf 'Cystic Kidney Disease' http://purl.obolibrary.org/obo/MONDO_0013276 Reynolds syndrome 'Reynolds syndrome' SubClassOf 'autoimmune disease with skin involvement' 'Reynolds syndrome' SubClassOf 'genetic skin disease' 'Reynolds syndrome' SubClassOf 'systemic autoimmune disease' 'Reynolds syndrome' SubClassOf 'systemic disease with skin involvement' 'Reynolds syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_88918 Autosomal dominant Alport syndrome 'Autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant cataract' 'Autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_369891 Cardiac anomalies-developmental delay-facial dysmorphism syndrome 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_369894 Early infantile epileptic encephalopathy without suppression burst 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_370927 SSR4-CDG 'SSR4-CDG' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_369942 CADDS 'CADDS' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_308993 Glycerol kinase deficiency 'Glycerol kinase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_370930 XYLT1-CDG 'XYLT1-CDG' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_369950 Intellectual disability-seizures-macrocephaly-obesity syndrome 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0003947 hyper-IgM syndrome 'hyper-IgM syndrome' SubClassOf 'disease of signal transduction' http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease 'systemic autoimmune disease' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0001328 thyroid hormone resistance syndrome 'thyroid hormone resistance syndrome' SubClassOf 'disease of receptor activity' 'thyroid hormone resistance syndrome' SubClassOf 'disease of signal transduction' http://www.orpha.net/ORDO/Orphanet_221120 Pseudoaminopterin syndrome 'Pseudoaminopterin syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_221150 Pitt-Hopkins-like syndrome 'Pitt-Hopkins-like syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disease 'articular cartilage disease' SubClassOf 'cartilage disease' http://www.orpha.net/ORDO/Orphanet_247691 Retinal vasculopathy and cerebral leukodystrophy 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'systemic autoimmune disease' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'autoimmune retinopathy' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'genetic otorhinolaryngologic disease' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'autoimmune disease of cardiovascular system' http://purl.obolibrary.org/obo/MONDO_0018477 bilirubin encephalopathy 'bilirubin encephalopathy' SubClassOf 'Neurometabolic disease' 'bilirubin encephalopathy' SubClassOf 'Disorder of bilirubin metabolism and excretion' http://purl.obolibrary.org/obo/MONDO_0016778 iatrogenic botulism 'iatrogenic botulism' SubClassOf 'nosocomial infection' 'iatrogenic botulism' EquivalentTo 'botulism' and ('has modifier' some 'iatrogenic') 'iatrogenic botulism' SubClassOf 'botulism' http://purl.obolibrary.org/obo/MONDO_0100369 iatrogenic or non-iatrogenic 'iatrogenic or non-iatrogenic' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0100450 CAPN5 vitreoretinopathy 'CAPN5 vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0100455 neonatal-onset developmental and epileptic encephalopathy 'neonatal-onset developmental and epileptic encephalopathy' SubClassOf 'Neonatal epilepsy syndrome' 'neonatal-onset developmental and epileptic encephalopathy' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0100437 RPGR retinopathy 'RPGR retinopathy' SubClassOf 'Retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100443 RDH5 retinopathy 'RDH5 retinopathy' SubClassOf 'Retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100444 RLBP1 retinopathy 'RLBP1 retinopathy' SubClassOf 'Retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100449 FLVCR1 retinopathy with or without ataxia 'FLVCR1 retinopathy with or without ataxia' SubClassOf 'Retinal dystrophy' 'FLVCR1 retinopathy with or without ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0100426 iatrogenic 'iatrogenic' SubClassOf 'iatrogenic or non-iatrogenic' http://purl.obolibrary.org/obo/MONDO_0000252 inflammatory diarrhea 'inflammatory diarrhea' SubClassOf 'gastroenteritis' 'inflammatory diarrhea' SubClassOf 'diarrheal disease' http://purl.obolibrary.org/obo/MONDO_0000257 acute diarrhea 'acute diarrhea' SubClassOf 'acute disease' 'acute diarrhea' SubClassOf 'diarrheal disease' http://ebi.ac.uk/efo/EFO_0600090 response to peritoneal dialysis 'response to peritoneal dialysis' SubClassOf 'response to stimulus' http://ebi.ac.uk/efo/EFO_0600092 complement factor H-like 1 protein measurement 'complement factor H-like 1 protein measurement' SubClassOf 'blood protein measurement' http://ebi.ac.uk/efo/EFO_0600091 complement factor H-related protein 4 measurement 'complement factor H-related protein 4 measurement' SubClassOf 'complement factor H-related proteins measurement' http://ebi.ac.uk/efo/EFO_0600083 family history of prostate cancer 'family history of prostate cancer' SubClassOf 'family history of cancer' 'family history of prostate cancer' SubClassOf 'is_about' some 'prostate cancer' http://ebi.ac.uk/efo/EFO_0600082 insulin use measurement 'insulin use measurement' SubClassOf 'drug use measurement' 'insulin use measurement' SubClassOf 'insulin measurement' 'insulin use measurement' SubClassOf 'is_about' some 'insulin' http://ebi.ac.uk/efo/EFO_0600081 time spent outdoors measurement 'time spent outdoors measurement' SubClassOf 'environmental exposure measurement' http://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 'eye' 'narrow occludable anterior chamber angle' SubClassOf 'anterior chamber depth measurement' http://ebi.ac.uk/efo/EFO_0600086 appendectomy 'appendectomy' SubClassOf 'medical procedure' http://ebi.ac.uk/efo/EFO_0600085 PP interval 'PP interval' SubClassOf 'electrocardiography' http://ebi.ac.uk/efo/EFO_0600084 bowel opening frequency 'bowel opening frequency' SubClassOf 'is_about' some 'digestive system' 'bowel opening frequency' SubClassOf 'measurement' http://ebi.ac.uk/efo/EFO_0600089 peritoneal solute transfer rate 'peritoneal solute transfer rate' SubClassOf 'is_about' some 'renal dialysis' 'peritoneal solute transfer rate' SubClassOf 'renal system measurement' http://ebi.ac.uk/efo/EFO_0600088 lymphocyte:monocyte ratio 'lymphocyte:monocyte ratio' SubClassOf ('is_about' some 'lymphocyte') and ('is_about' some 'monocyte') 'lymphocyte:monocyte ratio' SubClassOf 'hematological measurement' http://www.ebi.ac.uk/efo/EFO_0030060 mCT-seq 'mCT-seq' SubClassOf 'scRNA-seq' 'mCT-seq' SubClassOf 'DNA assay' 'mCT-seq' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0030061 mcSCRB-seq 'mcSCRB-seq' SubClassOf 'SCRB-seq' http://www.ebi.ac.uk/efo/EFO_0030059 10x multiome '10x multiome' SubClassOf 'scATAC-seq' '10x multiome' SubClassOf '10x technology' '10x multiome' SubClassOf 'scRNA-seq' http://purl.obolibrary.org/obo/MONDO_0010436 chromosome Xq28 duplication syndrome 'chromosome Xq28 duplication syndrome' SubClassOf 'syndromic X-linked intellectual disability Lubs type' http://purl.obolibrary.org/obo/MONDO_0022177 chromosome 13q trisomy 'chromosome 13q trisomy' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0022173 chromosome 11q trisomy 'chromosome 11q trisomy' SubClassOf 'syndrome caused by partial chromosomal duplication' 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' SubClassOf 'nosocomial infection' 'iatrogenic Creutzfeldt-Jakob disease' SubClassOf 'acquired Creutzfeldt-Jakob disease' http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted 'disease by molecular activity disrupted' SubClassOf 'disease by subcellular system affected' http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected 'disease by cellular component affected' SubClassOf 'disease by subcellular system affected' http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system 'disease by anatomical system' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected 'disease by subcellular system affected' EquivalentTo 'disease by cellular process disrupted' or 'disease by molecular activity disrupted' or 'disease by cellular component affected' 'disease by subcellular system affected' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted 'disease by cellular process disrupted' SubClassOf 'disease by subcellular system affected' http://purl.obolibrary.org/obo/MONDO_0045031 infectious diarrheal disease 'infectious diarrheal disease' EquivalentTo 'diarrheal disease' and 'infectious disease' 'infectious diarrheal disease' SubClassOf 'diarrheal disease' 'infectious diarrheal disease' SubClassOf 'digestive system infectious disease' http://purl.obolibrary.org/obo/MONDO_0018652 biological anomaly without phenotypic characterization 'biological anomaly without phenotypic characterization' SubClassOf 'has modifier' some 'rare' 'biological anomaly without phenotypic characterization' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031012 autoimmune uveitis 'autoimmune uveitis' SubClassOf 'autoimmune disease of ear, nose and throat' 'autoimmune uveitis' SubClassOf 'uveitis' http://purl.obolibrary.org/obo/MONDO_0002373 benign mesothelioma 'benign mesothelioma' SubClassOf 'mesothelioma' 'benign mesothelioma' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002176 connective tissue cancer 'connective tissue cancer' SubClassOf 'musculoskeletal system cancer' 'connective tissue cancer' SubClassOf 'connective tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0100246 migraine with or without aura, susceptibility to 'migraine with or without aura, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy 'autoimmune retinopathy' SubClassOf 'autoimmune disease of the nervous system' 'autoimmune retinopathy' SubClassOf 'retinopathy' 'autoimmune retinopathy' SubClassOf 'autoimmune disease of ear, nose and throat' http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region 'disorder by anatomical region' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0024537 Brown-Vialetto-van Laere syndrome 1 'Brown-Vialetto-van Laere syndrome 1' SubClassOf 'Riboflavin transporter deficiency' http://purl.obolibrary.org/obo/MONDO_0014707 14q32 duplication syndrome '14q32 duplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' '14q32 duplication syndrome' SubClassOf 'predisposes towards' some 'chronic myeloproliferative disorder' '14q32 duplication syndrome' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'chronic myeloproliferative disorder') '14q32 duplication syndrome' SubClassOf 'inherited disease susceptibility' '14q32 duplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0002676 adult fibrosarcoma 'adult fibrosarcoma' SubClassOf 'conventional fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0000858 neuronal intestinal dysplasia 'neuronal intestinal dysplasia' SubClassOf 'colonic disease' http://purl.obolibrary.org/obo/MONDO_0000890 Zika virus congenital syndrome 'Zika virus congenital syndrome' SubClassOf 'vector-borne disease' 'Zika virus congenital syndrome' SubClassOf 'congenital abnormality' 'Zika virus congenital syndrome' SubClassOf 'post-viral disorder' 'Zika virus congenital syndrome' SubClassOf 'disease arises from feature' some 'Zika virus infectious disease' 'Zika virus congenital syndrome' SubClassOf 'post-infectious syndrome' 'Zika virus congenital syndrome' EquivalentTo 'congenital abnormality' and ('disease arises from feature' some 'Zika virus infectious disease') 'Zika virus congenital syndrome' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction 'disease of signal transduction' SubClassOf 'disease by cellular process disrupted' http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement 'systemic disease with skin involvement' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle 'disease of membrane bound organelle' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex 'disease of macromolecular complex' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex 'disease of supramolecular complex' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type 'disease by cell type' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity 'disease of catalytic activity' SubClassOf 'disease by molecular activity disrupted' http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity 'disease of transporter activity' SubClassOf 'disease by molecular activity disrupted' http://purl.obolibrary.org/obo/MONDO_0044977 disease of receptor activity 'disease of receptor activity' SubClassOf 'disease by molecular activity disrupted' http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis 'systemic diseases with posterior uveitis' SubClassOf 'posterior uveitis' http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis 'systemic diseases with anterior uveitis' SubClassOf 'anterior uveitis' http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis 'systemic diseases with panuveitis' SubClassOf 'panuveitis' http://purl.obolibrary.org/obo/MONDO_0015158 unexplained periodic fever syndrome 'unexplained periodic fever syndrome' SubClassOf 'periodic fever syndrome' http://purl.obolibrary.org/obo/MONDO_0025513 autoimmune urticaria 'autoimmune urticaria' SubClassOf 'autoimmune disease with skin involvement' 'autoimmune urticaria' SubClassOf 'urticaria' http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease 'systemic autoimmune disease' SubClassOf 'type II hypersensitivity reaction disease'