155 50 1 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_1387 Cataract - intellectual disability - hypogonadism 'Cataract - intellectual disability - hypogonadism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1340 Cardiofaciocutaneous syndrome 'Cardiofaciocutaneous syndrome' SubClassOf 'rasopathy' http://www.orpha.net/ORDO/Orphanet_1369 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'congenital nervous system disorder' 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_1318 Campomelia, Cumming type 'Campomelia, Cumming type' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_35737 Morning glory syndrome 'Morning glory syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000699 Sjogren syndrome 'Sjogren syndrome' SubClassOf 'autoimmune disease of the nervous system' http://www.orpha.net/ORDO/Orphanet_238468 Hypohidrotic ectodermal dysplasia 'Hypohidrotic ectodermal dysplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1563 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1571 Knobloch syndrome 'Knobloch syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0021231 retina neoplasm 'retina neoplasm' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021233 ear neoplasm 'ear neoplasm' SubClassOf 'nervous system neoplasm' http://www.orpha.net/ORDO/Orphanet_324737 SRD5A3-CDG 'SRD5A3-CDG' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_98945 Coloboma of macula 'Coloboma of macula' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3366 Isolated trigonocephaly 'Isolated trigonocephaly' 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_3437 Vogt-Koyanagi-Harada disease 'Vogt-Koyanagi-Harada disease' SubClassOf 'autoimmune disease of the nervous system' http://www.orpha.net/ORDO/Orphanet_3434 MMEP syndrome 'MMEP syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0009403 granule cell layer dentate gyrus volume 'granule cell layer dentate gyrus volume' SubClassOf 'hippocampal volume' 'granule cell layer dentate gyrus volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010083 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_1068 Aniridia-intellectual disability syndrome 'Aniridia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1117 Aplasia cutis - myopia 'Aplasia cutis - myopia' 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://www.ebi.ac.uk/efo/EFO_0009321 diabetic macular edema 'diabetic macular edema' SubClassOf 'diabetic retinopathy' 'diabetic macular edema' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010133 http://www.orpha.net/ORDO/Orphanet_87 Apert syndrome 'Apert syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_314585 15q overgrowth syndrome '15q overgrowth syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79404 Junctional epidermolysis bullosa, Herlitz type 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018675 IgG4-related ophthalmic disease 'IgG4-related ophthalmic disease' SubClassOf 'autoimmune disease of the nervous system' http://purl.obolibrary.org/obo/MONDO_0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000866 choroid cancer 'choroid cancer' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_79477 Griscelli disease type 2 'Griscelli disease type 2' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1775 Dyskeratosis congenita 'Dyskeratosis congenita' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0002509 progressive external ophthalmoplegia 'progressive external ophthalmoplegia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1900 Ehlers-Danlos syndrome, kyphoscoliotic type 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1997 Blepharo-cheilo-odontic syndrome 'Blepharo-cheilo-odontic syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis 'Mucopolysaccharidosis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1806 Ectodermal dysplasia - blindness 'Ectodermal dysplasia - blindness' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0002713 Panc1 'Panc1' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/MONDO_0021666 ear infection 'ear infection' SubClassOf 'infectious disease of the nervous system' 'ear infection' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0031012 autoimmune uveitis 'autoimmune uveitis' SubClassOf 'autoimmune disease of the nervous system' http://www.ebi.ac.uk/efo/EFO_0005223 acute stress reaction 'acute stress reaction' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010098 http://www.orpha.net/ORDO/Orphanet_391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002311 retinal vascular disease 'retinal vascular disease' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_89842 Recessive dystrophic epidermolysis bullosa-generalized other 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0004756 nasal cavity neoplasm 'nasal cavity neoplasm' SubClassOf 'nervous system neoplasm' http://www.orpha.net/ORDO/Orphanet_90186 Meige disease 'Meige disease' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_77299 Microphthalmia - brain atrophy 'Microphthalmia - brain atrophy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0043885 eye infectious disease 'eye infectious disease' SubClassOf 'infectious disease of the nervous system' 'eye infectious disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0005751 eye allergy 'eye allergy' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0005753 ocular vascular disease 'ocular vascular disease' SubClassOf 'neurovascular disease' 'ocular vascular disease' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0003110 villitis 'villitis' SubClassOf 'disease of extraembryonic membrane' 'villitis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009950 http://www.orpha.net/ORDO/Orphanet_90349 Autosomal recessive cutis laxa type 1 'Autosomal recessive cutis laxa type 1' SubClassOf 'neurovascular disease' 'Autosomal recessive cutis laxa type 1' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_90354 Brittle cornea syndrome 'Brittle cornea syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3088 Revesz syndrome 'Revesz syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3103 Roberts syndrome 'Roberts syndrome' 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_99718 Leber plus disease 'Leber plus disease' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_319195 Chondroectodermal dysplasia with night blindness 'Chondroectodermal dysplasia with night blindness' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007280 gastrointestinal tuberculosis 'gastrointestinal tuberculosis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_3342 Arterial tortuosity syndrome 'Arterial tortuosity syndrome' SubClassOf 'neurovascular disease' http://www.ebi.ac.uk/efo/EFO_0007126 Acanthamoeba keratitis 'Acanthamoeba keratitis' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_3194 Stern-Lubinsky-Durrie syndrome 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3134 SCARF syndrome 'SCARF syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3205 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'nervous system neoplasm' 'Deafness - lymphedema - leukemia' SubClassOf 'neurovascular disease' http://purl.obolibrary.org/obo/MONDO_0000369 abdominal tuberculosis 'abdominal tuberculosis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0007463 renal tuberculosis 'renal tuberculosis' SubClassOf 'abdominal tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007492 splenic tuberculosis 'splenic tuberculosis' SubClassOf 'abdominal tuberculosis' http://www.orpha.net/ORDO/Orphanet_63440 Isolated oxycephaly 'Isolated oxycephaly' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007407 oral tuberculosis 'oral tuberculosis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_75377 Central areolar choroidal dystrophy 'Central areolar choroidal dystrophy' SubClassOf 'neurovascular disease' http://purl.obolibrary.org/obo/MONDO_0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'neurovascular disease' http://www.ebi.ac.uk/efo/EFO_0009948 chorioamnionitis 'chorioamnionitis' SubClassOf 'disease of extraembryonic membrane' 'chorioamnionitis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009950 http://www.ebi.ac.uk/efo/EFO_0007302 hepatic tuberculosis 'hepatic tuberculosis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract 'chromosomal anomaly with cataract' SubClassOf 'congenital nervous system disorder' 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://www.ebi.ac.uk/efo/EFO_1001302 Cytomegalovirus Retinitis 'Cytomegalovirus Retinitis' SubClassOf 'infectious disease of the nervous system' http://www.orpha.net/ORDO/Orphanet_2875 Phakomatosis pigmentovascularis 'Phakomatosis pigmentovascularis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2836 PEHO syndrome 'PEHO syndrome' SubClassOf 'neurovascular disease' http://purl.obolibrary.org/obo/MONDO_0009576 megalocornea (disease) 'megalocornea (disease)' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2712 Oculofaciocardiodental syndrome 'Oculofaciocardiodental syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2709 Oculodental syndrome, Rutherfurd type 'Oculodental syndrome, Rutherfurd type' 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_2719 Oculocerebral hypopigmentation syndrome, Cross type 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2745 Opitz G/BBB syndrome 'Opitz G/BBB syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2222 Hypertrichosis lanuginosa congenita 'Hypertrichosis lanuginosa congenita' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001069 ocular hypertension 'ocular hypertension' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_2090 GMS syndrome 'GMS syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2136 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_180 Choroideremia 'Choroideremia' SubClassOf 'neurovascular disease' 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_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_139 CHILD syndrome 'CHILD 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_209 Cutis laxa 'Cutis laxa' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_207 Crouzon disease 'Crouzon disease' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2409 Lowry-MacLean syndrome 'Lowry-MacLean syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2407 LOC syndrome 'LOC syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001013 lethal midline granuloma 'lethal midline granuloma' SubClassOf 'nervous system neoplasm' http://www.orpha.net/ORDO/Orphanet_2377 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2308 Jacobsen syndrome 'Jacobsen syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009179 recessive dystrophic epidermolysis bullosa 'recessive dystrophic epidermolysis bullosa' 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_414 Gyrate atrophy of choroid and retina 'Gyrate atrophy of choroid and retina' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_324 Fabry disease 'Fabry disease' SubClassOf 'neurovascular disease' 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 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017212 paraneoplastic uveitis 'paraneoplastic uveitis' SubClassOf 'paraneoplastic neurologic syndrome' 'paraneoplastic uveitis' SubClassOf 'paraneoplastic syndrome' http://www.orpha.net/ORDO/Orphanet_648 Noonan syndrome 'Noonan syndrome' SubClassOf 'rasopathy' http://www.orpha.net/ORDO/Orphanet_663 Maternally-inherited progressive external ophthalmoplegia 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0001058 sensory system disease 'sensory system disease' SubClassOf 'nervous system disease' 'sensory system disease' SubClassOf 'disease by anatomical system' 'sensory system disease' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_183557 Genetic developmental defect of the eye 'Genetic developmental defect of the eye' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_534 Oculocerebrorenal syndrome 'Oculocerebrorenal syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_558 Marfan syndrome 'Marfan syndrome' SubClassOf 'congenital nervous system disorder' 'Marfan syndrome' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_183619 Genetic eye tumor 'Genetic eye tumor' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_579 Mucopolysaccharidosis type 1 'Mucopolysaccharidosis type 1' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_158668 Epidermolysis bullosa simplex due to plakophilin deficiency 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_93293 Okihiro syndrome 'Okihiro syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_93262 Crouzon syndrome - acanthosis nigricans 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_881 Turner syndrome 'Turner syndrome' 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' 'Von Hippel-Lindau disease' SubClassOf 'nervous system neoplasm' http://www.orpha.net/ORDO/Orphanet_818 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' 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' http://www.orpha.net/ORDO/Orphanet_2909 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0003824 eye neoplasm 'eye neoplasm' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0007563 epistaxis, hereditary 'epistaxis, hereditary' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0003866 paranasal sinus neoplasm 'paranasal sinus neoplasm' SubClassOf 'nervous system neoplasm' http://www.orpha.net/ORDO/Orphanet_742 Prolidase deficiency 'Prolidase deficiency' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_783 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_794 Saethre-Chotzen syndrome 'Saethre-Chotzen syndrome' 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_171844 Blindness-scoliosis-arachnodactyly syndrome 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_710 Pfeiffer syndrome 'Pfeiffer syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2962 De Barsy syndrome 'De Barsy syndrome' 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.ebi.ac.uk/efo/EFO_0001358 post-traumatic stress disorder 'post-traumatic stress disorder' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010098 http://www.orpha.net/ORDO/Orphanet_904 Williams syndrome 'Williams syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_902 Werner syndrome 'Werner syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/http://www.ebi.ac.uk/efo/EFO_0009950 disease of extraembryonic membrane 'disease of extraembryonic membrane' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_0006781 coffee consumption measurement 'coffee consumption measurement' SubClassOf 'measurement' 'coffee consumption measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010089 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://www.orpha.net/ORDO/Orphanet_35173 X-linked dominant chondrodysplasia punctata 'X-linked dominant chondrodysplasia punctata' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_98733 Noonan syndrome and Noonan-related syndrome 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'rasopathy' http://www.orpha.net/ORDO/Orphanet_98645 Cerebral disease with cataract 'Cerebral disease with cataract' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_35099 Isolated brachycephaly 'Isolated brachycephaly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_35098 Isolated plagiocephaly 'Isolated plagiocephaly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_98609 EEC syndrome and related syndrome 'EEC syndrome and related syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_35093 Isolated scaphocephaly 'Isolated scaphocephaly' 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://www.ebi.ac.uk/efo/EFO_0010114 citrate measurement 'citrate measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010115 glycerol measurement 'glycerol measurement' SubClassOf 'is_about' some 'glycerol' 'glycerol measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010112 acetate measurement 'acetate measurement' SubClassOf 'ketone body measurement' 'acetate measurement' SubClassOf 'is_about' some 'acetate' http://www.ebi.ac.uk/efo/EFO_0010113 3-hydroxybutyric acid measurement '3-hydroxybutyric acid measurement' SubClassOf 'ketone body measurement' http://www.ebi.ac.uk/efo/EFO_0010110 ketone body measurement 'ketone body measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010111 acetoacetate measurement 'acetoacetate measurement' SubClassOf 'is_about' some 'acetoacetate' 'acetoacetate measurement' SubClassOf 'ketone body measurement' http://www.ebi.ac.uk/efo/EFO_0010118 sphingomyelin measurement 'sphingomyelin measurement' SubClassOf 'sphingolipid measurement' 'sphingomyelin measurement' SubClassOf 'is_about' some 'sphingomyelin' http://www.ebi.ac.uk/efo/EFO_0010119 omega-3 polyunsaturated fatty acid measurement 'omega-3 polyunsaturated fatty acid measurement' SubClassOf 'fatty acid measurement' http://www.ebi.ac.uk/efo/EFO_0010116 choline measurement 'choline measurement' SubClassOf 'is_about' some 'choline' 'choline measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010117 pyruvate measurement 'pyruvate measurement' SubClassOf 'measurement' 'pyruvate measurement' SubClassOf 'is_about' some 'pyruvate' http://www.ebi.ac.uk/efo/EFO_0010103 response to peginterferon alfa-2a 'response to peginterferon alfa-2a' SubClassOf 'is_about' some 'peginterferon alfa-2a' 'response to peginterferon alfa-2a' SubClassOf 'response to interferon' http://www.ebi.ac.uk/efo/EFO_0010104 health literacy measurement 'health literacy measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010101 decreased susceptibility to hepatitis C infection 'decreased susceptibility to hepatitis C infection' SubClassOf 'abnormality of the immune system' http://www.ebi.ac.uk/efo/EFO_0010102 peginterferon alfa-2a 'peginterferon alfa-2a' SubClassOf 'drug' 'peginterferon alfa-2a' SubClassOf 'has_role' some 'antineoplastic agent' http://www.ebi.ac.uk/efo/EFO_0010100 multisite chronic pain 'multisite chronic pain' SubClassOf 'chronic pain' http://www.ebi.ac.uk/efo/EFO_0010109 CD56-positive NK-lymphocyte cell count 'CD56-positive NK-lymphocyte cell count' SubClassOf 'lymphocyte count' http://www.ebi.ac.uk/efo/EFO_0010107 CD8-positive T-lymphocyte count 'CD8-positive T-lymphocyte count' SubClassOf 'lymphocyte count' http://www.ebi.ac.uk/efo/EFO_0010108 CD19-positive B-lymphocyte count 'CD19-positive B-lymphocyte count' SubClassOf 'lymphocyte count' http://www.ebi.ac.uk/efo/EFO_0010105 CD4-positive T-lymphocyte count 'CD4-positive T-lymphocyte count' SubClassOf 'lymphocyte count' http://www.ebi.ac.uk/efo/EFO_0010106 CD3-positive T-lymphocyte count 'CD3-positive T-lymphocyte count' SubClassOf 'lymphocyte count' http://www.ebi.ac.uk/efo/EFO_0010132 decreased fine motor function 'decreased fine motor function' SubClassOf 'Abnormality of nervous system physiology' http://www.ebi.ac.uk/efo/EFO_0010133 diabetic maculopathy 'diabetic maculopathy' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'diabetic maculopathy' SubClassOf 'diabetic retinopathy' http://www.ebi.ac.uk/efo/EFO_0010130 health study participation 'health study participation' SubClassOf 'phenotype' http://www.ebi.ac.uk/efo/EFO_0010131 decreased walking ability 'decreased walking ability' SubClassOf 'Abnormality of nervous system physiology' http://www.ebi.ac.uk/efo/EFO_0010125 viral load 'viral load' SubClassOf 'is_about' some 'infection' 'viral load' SubClassOf 'measurement' 'viral load' SubClassOf 'infectious disease biomarker' 'viral load' SubClassOf 'is_about' some 'viral disease' http://www.ebi.ac.uk/efo/EFO_0010126 time to first cigarette measurement 'time to first cigarette measurement' SubClassOf 'is_about' some 'smoking behavior' 'time to first cigarette measurement' SubClassOf 'smoking behaviour measurement' 'time to first cigarette measurement' SubClassOf 'is_about' some 'nicotine dependence' 'time to first cigarette measurement' SubClassOf 'mental or behavioural disorder biomarker' http://www.ebi.ac.uk/efo/EFO_0010123 response to antiviral drug 'response to antiviral drug' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0010124 response to atorvastatin 'response to atorvastatin' SubClassOf 'has_input' some 'atorvastatin' 'response to atorvastatin' SubClassOf 'response to statin' http://www.ebi.ac.uk/efo/EFO_0010120 fasting blood glucose change measurement 'fasting blood glucose change measurement' SubClassOf 'fasting blood glucose measurement' 'fasting blood glucose change measurement' SubClassOf 'is_about' some 'glucose' 'fasting blood glucose change measurement' SubClassOf 'is_about' some 'type II diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0010129 breakfast skipping measurement 'breakfast skipping measurement' SubClassOf 'is_about' some 'eating behaviour' 'breakfast skipping measurement' SubClassOf 'is_about' some 'eating disorder' 'breakfast skipping measurement' SubClassOf 'mental or behavioural disorder biomarker' http://www.ebi.ac.uk/efo/EFO_0010127 serum immunoglobulin measurement 'serum immunoglobulin measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0010128 immunoglobulin isotype switching measurement 'immunoglobulin isotype switching measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0010099 chronic widespread pain 'chronic widespread pain' SubClassOf 'chronic pain' http://www.ebi.ac.uk/efo/EFO_0010097 sugar sweetened beverage consumption measurement 'sugar sweetened beverage consumption measurement' SubClassOf 'sweet beverage consumption measurement' http://www.ebi.ac.uk/efo/EFO_0010098 stress-related disorder 'stress-related disorder' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0010095 non-grapefruit juice consumption measurement 'non-grapefruit juice consumption measurement' SubClassOf 'sweet beverage consumption measurement' http://www.ebi.ac.uk/efo/EFO_0010096 artificially sweetened beverage consumption measurement 'artificially sweetened beverage consumption measurement' SubClassOf 'sweet beverage consumption measurement' http://www.ebi.ac.uk/efo/EFO_0010093 bitter non-alcoholic beverage consumption measurement 'bitter non-alcoholic beverage consumption measurement' SubClassOf 'bitter beverage consumption measurement' http://www.ebi.ac.uk/efo/EFO_0010094 grapefruit juice consumption measurement 'grapefruit juice consumption measurement' SubClassOf 'bitter beverage consumption measurement' http://www.ebi.ac.uk/efo/EFO_0010091 tea consumption measurement 'tea consumption measurement' SubClassOf 'bitter beverage consumption measurement' http://www.ebi.ac.uk/efo/EFO_0010092 bitter alcoholic beverage consumption measurement 'bitter alcoholic beverage consumption measurement' SubClassOf 'bitter beverage consumption measurement' http://www.ebi.ac.uk/efo/EFO_0010090 sweet beverage consumption measurement 'sweet beverage consumption measurement' SubClassOf 'beverage consumption measurement' http://www.ebi.ac.uk/efo/EFO_0010088 beverage consumption measurement 'beverage consumption measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010089 bitter beverage consumption measurement 'bitter beverage consumption measurement' SubClassOf 'beverage consumption measurement' http://www.ebi.ac.uk/efo/EFO_0010086 anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement 'anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement' SubClassOf 'serum IgG measurement' 'anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement' SubClassOf 'is_about' some 'Haemophilus influenzae meningitis' 'anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement' SubClassOf 'infectious disease biomarker' http://www.ebi.ac.uk/efo/EFO_0010087 anti-meningococcal C serum bactericidal antibody measurement 'anti-meningococcal C serum bactericidal antibody measurement' SubClassOf 'is_about' some 'meningococcal infection' 'anti-meningococcal C serum bactericidal antibody measurement' SubClassOf 'infectious disease biomarker' 'anti-meningococcal C serum bactericidal antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0010084 anti-meningococcal C IgG measurement 'anti-meningococcal C IgG measurement' SubClassOf 'infectious disease biomarker' 'anti-meningococcal C IgG measurement' SubClassOf 'is_about' some 'meningococcal infection' 'anti-meningococcal C IgG measurement' SubClassOf 'serum IgG measurement' http://www.ebi.ac.uk/efo/EFO_0010085 anti-tetanus toxoid IgG measurement 'anti-tetanus toxoid IgG measurement' SubClassOf 'infectious disease biomarker' 'anti-tetanus toxoid IgG measurement' SubClassOf 'serum IgG measurement' 'anti-tetanus toxoid IgG measurement' SubClassOf 'is_about' some 'tetanus' http://www.ebi.ac.uk/efo/EFO_0010083 dentate gyrus volume measurement 'dentate gyrus volume measurement' SubClassOf 'mental or behavioural disorder biomarker' 'dentate gyrus volume measurement' SubClassOf 'hippocampal volume' 'dentate gyrus volume measurement' SubClassOf 'is_about' some 'dentate gyrus of hippocampal formation' http://www.ebi.ac.uk/efo/EFO_0009950 disease of extraembryonic membrane 'disease of extraembryonic membrane' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/http://www.ebi.ac.uk/efo/EFO_0009950 disease of extraembryonic membrane 'disease of extraembryonic membrane' SubClassOf 'placenta disease'