Ontology Diff Summary Diff date: 2023/06/27 11:16:08 First ontology URI: /mnt/c/Users/dlagorce/Orphanet/ORDO/ORDO_DEC2022/orphadata/ORDO_en_4.2.owl Second ontology URI: /mnt/g/Ontologies/ORDO/ORDO_2023/outputs/ordo/ORDO_en_4.3.owl Number of classes changed: 1518 Number of classes added: 224 Number of classes deleted: 16 ################ @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_98726 Label(s): OBSOLETE: Pulmonary artery/pulmonary branch anomaly - 'OBSOLETE: Pulmonary artery/pulmonary branch anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pulmonary artery or pulmonary branch anomaly' + 'OBSOLETE: Pulmonary artery/pulmonary branch anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98714 Label(s): OBSOLETE: Metabolic disease with macular cherry-red spot - 'OBSOLETE: Metabolic disease with macular cherry-red spot' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' + 'OBSOLETE: Metabolic disease with macular cherry-red spot' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_98713 Label(s): OBSOLETE: Metabolic disease with pigmentary retinitis - 'OBSOLETE: Metabolic disease with pigmentary retinitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' + 'OBSOLETE: Metabolic disease with pigmentary retinitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_98712 Label(s): OBSOLETE: Metabolic disease with cataract - 'OBSOLETE: Metabolic disease with cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Metabolic disease with cataract' + 'OBSOLETE: Metabolic disease with cataract' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Metabolic disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_98711 Label(s): OBSOLETE: Metabolic disease with corneal opacity - 'OBSOLETE: Metabolic disease with corneal opacity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' + 'OBSOLETE: Metabolic disease with corneal opacity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_98710 Label(s): OBSOLETE: Metabolic disease associated with ocular features - 'OBSOLETE: Metabolic disease associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' + 'OBSOLETE: Metabolic disease associated with ocular features' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_98167 Label(s): OBSOLETE: Diabetes associated to exocrine pancreas neoplasia - 'OBSOLETE: Diabetes associated to exocrine pancreas neoplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Other rare diabetes mellitus' + 'OBSOLETE: Diabetes associated to exocrine pancreas neoplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Other rare diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_329206 Label(s): OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome - 'OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_99900 Label(s): Long chain acyl-CoA dehydrogenase deficiency - 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Very long chain acyl-CoA dehydrogenase deficiency' + 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Very long chain acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98709 Label(s): OBSOLETE: Ectodermal malformation syndrome associated with ocular features - 'OBSOLETE: Ectodermal malformation syndrome associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the visual organs' + 'OBSOLETE: Ectodermal malformation syndrome associated with ocular features' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder of the visual organs' Class: http://www.orpha.net/ORDO/Orphanet_98708 Label(s): OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism - 'OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pigmentation anomaly of the skin' + 'OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pigmentation anomaly of the skin' Class: http://www.orpha.net/ORDO/Orphanet_98704 Label(s): OBSOLETE: Onycho-patellar syndrome with eye involvement - 'OBSOLETE: Onycho-patellar syndrome with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Nail-patella syndrome' + 'OBSOLETE: Onycho-patellar syndrome with eye involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Nail-patella syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98703 Label(s): OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features - 'OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98702 Label(s): OBSOLETE: Connective tissue disease with eye involvement - 'OBSOLETE: Connective tissue disease with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the visual organs' + 'OBSOLETE: Connective tissue disease with eye involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder of the visual organs' Class: http://www.orpha.net/ORDO/Orphanet_98701 Label(s): OBSOLETE: Phakomatosis with eye involvement - 'OBSOLETE: Phakomatosis with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare skin tumor or hamartoma' + 'OBSOLETE: Phakomatosis with eye involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_98700 Label(s): OBSOLETE: Pigmentation disorder with eye involvement - 'OBSOLETE: Pigmentation disorder with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pigmentation anomaly of the skin' + 'OBSOLETE: Pigmentation disorder with eye involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pigmentation anomaly of the skin' Class: http://www.orpha.net/ORDO/Orphanet_206985 Label(s): OBSOLETE: Drug and/or toxic myopathy - 'OBSOLETE: Drug and/or toxic myopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired skeletal muscle disease' + 'OBSOLETE: Drug and/or toxic myopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_95501 Label(s): OBSOLETE: Congenital central diabetes insipidus - 'OBSOLETE: Congenital central diabetes insipidus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central diabetes insipidus' + 'OBSOLETE: Congenital central diabetes insipidus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Central diabetes insipidus' Class: http://www.orpha.net/ORDO/Orphanet_158661 Label(s): OBSOLETE: Suprabasal epidermolysis bullosa simplex - 'OBSOLETE: Suprabasal epidermolysis bullosa simplex' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Epidermolysis bullosa simplex' + 'OBSOLETE: Suprabasal epidermolysis bullosa simplex' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Epidermolysis bullosa simplex' Class: http://www.orpha.net/ORDO/Orphanet_139420 Label(s): OBSOLETE: Secondary acute transverse myelitis - 'OBSOLETE: Secondary acute transverse myelitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acute transverse myelitis' + 'OBSOLETE: Secondary acute transverse myelitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acute transverse myelitis' Class: http://www.orpha.net/ORDO/Orphanet_3357 Label(s): OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly - 'OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ectodermal dysplasia syndrome' + 'OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120690 Label(s): collagen type XI alpha 1 chain - 'collagen type XI alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_172979 Label(s): OBSOLETE: Congenital myopathy with central nuclei - 'OBSOLETE: Congenital myopathy with central nuclei' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital myopathy' + 'OBSOLETE: Congenital myopathy with central nuclei' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_3360 Label(s): OBSOLETE: Trichodermal syndrome-intellectual disability syndrome - 'OBSOLETE: Trichodermal syndrome-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: Trichodermal syndrome-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1396 Label(s): OBSOLETE: Cerebrorenodigital syndrome - 'OBSOLETE: Cerebrorenodigital syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Meckel syndrome' + 'OBSOLETE: Cerebrorenodigital syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Meckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_633099 Label(s): PAICS deficiency - 'PAICS deficiency' SubClassOf 'disease' + 'PAICS deficiency' SubClassOf 'malformation syndrome' + 'PAICS deficiency' SubClassOf 'part_of' some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122857 Label(s): KISS1 receptor - 'KISS1 receptor' SubClassOf 'candidate gene tested in' some 'Idiopathic central precocious puberty' + 'KISS1 receptor' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_650097 + 'KISS1 receptor' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_650077 Class: http://www.orpha.net/ORDO/Orphanet_122847 Label(s): kinesin family member 21A + 'kinesin family member 21A' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Fetal akinesia deformation sequence' Class: http://www.orpha.net/ORDO/Orphanet_206473 Label(s): Borderline epithelial tumor of ovary - 'Borderline epithelial tumor of ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' - 'Borderline epithelial tumor of ovary' SubClassOf 'disease' - 'Borderline epithelial tumor of ovary' SubClassOf 'disorder' + 'Borderline epithelial tumor of ovary' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Malignant epithelial tumor of ovary' + 'Borderline epithelial tumor of ovary' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_3106 Label(s): Robinow-Sorauf syndrome - 'Robinow-Sorauf syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Saethre-Chotzen syndrome' + 'Robinow-Sorauf syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Saethre-Chotzen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_726 Label(s): Alpers-Huttenlocher syndrome + 'Alpers-Huttenlocher syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93365 Label(s): OBSOLETE: CINCA syndrome with NLRP3 mutations - 'OBSOLETE: CINCA syndrome with NLRP3 mutations' SubClassOf http://www.orpha.net/ORDO/referred_to some 'CINCA syndrome' + 'OBSOLETE: CINCA syndrome with NLRP3 mutations' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'CINCA syndrome' Class: http://www.orpha.net/ORDO/Orphanet_509002 Label(s): EPH receptor B4 + 'EPH receptor B4' SubClassOf 'disease-causing germline mutation(s) in' some 'EPHB4-related lymphatic-related hydrops fetalis' Class: http://www.orpha.net/ORDO/Orphanet_210592 Label(s): OBSOLETE: Giant infantile hemangioma - 'OBSOLETE: Giant infantile hemangioma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital hemangioma' + 'OBSOLETE: Giant infantile hemangioma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_162521 Label(s): OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly - 'OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Microform holoprosencephaly' + 'OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Microform holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_3122 Label(s): OBSOLETE: Sinus node disease-myopia syndrome - 'OBSOLETE: Sinus node disease-myopia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial sick sinus syndrome' + 'OBSOLETE: Sinus node disease-myopia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial sick sinus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3128 Label(s): OBSOLETE: Sakati-Nyhan syndrome - 'OBSOLETE: Sakati-Nyhan syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Sakati-Nyhan syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3133 Label(s): OBSOLETE: Say-Field-Coldwell syndrome - 'OBSOLETE: Say-Field-Coldwell syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'OBSOLETE: Say-Field-Coldwell syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_3137 Label(s): Alpha-N-acetylgalactosaminidase deficiency + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_320317 Label(s): OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome - 'OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Cleft lip/palate-ectodermal dysplasia syndrome' + 'OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Cleft lip/palate-ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2286 Label(s): OBSOLETE: Solitary median maxillary central incisor syndrome - 'OBSOLETE: Solitary median maxillary central incisor syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Microform holoprosencephaly' + 'OBSOLETE: Solitary median maxillary central incisor syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Microform holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_3157 Label(s): Septo-optic dysplasia spectrum + 'Septo-optic dysplasia spectrum' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_371054 Label(s): OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature - 'OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3160 Label(s): OBSOLETE: Vascular disruption sequence - 'OBSOLETE: Vascular disruption sequence' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare developmental defect during embryogenesis' + 'OBSOLETE: Vascular disruption sequence' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_284408 Label(s): OBSOLETE: Glycerol kinase deficiency, infantile form - 'OBSOLETE: Glycerol kinase deficiency, infantile form' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xp21 deletion syndrome' + 'OBSOLETE: Glycerol kinase deficiency, infantile form' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Xp21 deletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2267 Label(s): OBSOLETE: Ichthyosis-cheek-eyebrow syndrome - 'OBSOLETE: Ichthyosis-cheek-eyebrow syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal ichthyosis syndrome with other associated signs' + 'OBSOLETE: Ichthyosis-cheek-eyebrow syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_145 Label(s): Hereditary breast and ovarian cancer syndrome - 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'part_of' some 'Familial ovarian cancer' Class: http://www.orpha.net/ORDO/Orphanet_252455 Label(s): NADH:ubiquinone oxidoreductase subunit A2 - 'NADH:ubiquinone oxidoreductase subunit A2' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2258 Label(s): OBSOLETE: Congenital unilateral pulmonary hypoplasia - 'OBSOLETE: Congenital unilateral pulmonary hypoplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary pulmonary hypoplasia' + 'OBSOLETE: Congenital unilateral pulmonary hypoplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary pulmonary hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_98698 Label(s): OBSOLETE: Ichthyosis associated with ocular features - 'OBSOLETE: Ichthyosis associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited ichthyosis syndromic form' + 'OBSOLETE: Ichthyosis associated with ocular features' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Inherited ichthyosis syndromic form' Class: http://www.orpha.net/ORDO/Orphanet_98697 Label(s): OBSOLETE: Genetic keratinization disorder associated with ocular features - 'OBSOLETE: Genetic keratinization disorder associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited ichthyosis syndromic form' + 'OBSOLETE: Genetic keratinization disorder associated with ocular features' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Inherited ichthyosis syndromic form' Class: http://www.orpha.net/ORDO/Orphanet_98696 Label(s): OBSOLETE: Genodermatosis with ocular features - 'OBSOLETE: Genodermatosis with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare genetic skin disease' + 'OBSOLETE: Genodermatosis with ocular features' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare genetic skin disease' Class: http://www.orpha.net/ORDO/Orphanet_98695 Label(s): OBSOLETE: Mitochondrial disease with eye involvement - 'OBSOLETE: Mitochondrial disease with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mitochondrial disease' + 'OBSOLETE: Mitochondrial disease with eye involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Mitochondrial disease' Class: http://www.orpha.net/ORDO/Orphanet_98694 Label(s): OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly - 'OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98693 Label(s): OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly - 'OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98692 Label(s): OBSOLETE: Nervous system anomaly with eye involvement - 'OBSOLETE: Nervous system anomaly with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuro-ophthalmological disease' + 'OBSOLETE: Nervous system anomaly with eye involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neuro-ophthalmological disease' Class: http://www.orpha.net/ORDO/Orphanet_3195 Label(s): Sternal malformation-vascular dysplasia syndrome - 'Sternal malformation-vascular dysplasia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'PHACE syndrome' + 'Sternal malformation-vascular dysplasia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'PHACE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98689 Label(s): OBSOLETE: Myopathy with eye involvement - 'OBSOLETE: Myopathy with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'OBSOLETE: Myopathy with eye involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98678 Label(s): OBSOLETE: X-linked recessive optic atrophy - 'OBSOLETE: X-linked recessive optic atrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary optic neuropathy' + 'OBSOLETE: X-linked recessive optic atrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98675 Label(s): OBSOLETE: Autosomal recessive optic atrophy - 'OBSOLETE: Autosomal recessive optic atrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary optic neuropathy' + 'OBSOLETE: Autosomal recessive optic atrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98670 Label(s): OBSOLETE: Vitreoretinal degeneration - 'OBSOLETE: Vitreoretinal degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Vitreoretinopathy' + 'OBSOLETE: Vitreoretinal degeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_98669 Label(s): OBSOLETE: Congenital vitreoretinal dysplasia - 'OBSOLETE: Congenital vitreoretinal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic vitreoretinopathy' + 'OBSOLETE: Congenital vitreoretinal dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_98667 Label(s): OBSOLETE: Disease predisposing to age-related macular degeneration - 'OBSOLETE: Disease predisposing to age-related macular degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial drusen' + 'OBSOLETE: Disease predisposing to age-related macular degeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial drusen' Class: http://www.orpha.net/ORDO/Orphanet_98666 Label(s): OBSOLETE: Unclassified primitive or secondary maculopathy - 'OBSOLETE: Unclassified primitive or secondary maculopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited retinal disorder' + 'OBSOLETE: Unclassified primitive or secondary maculopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98665 Label(s): OBSOLETE: Colobomatous and areolar dystrophy - 'OBSOLETE: Colobomatous and areolar dystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited retinal disorder' + 'OBSOLETE: Colobomatous and areolar dystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98664 Label(s): OBSOLETE: Genetic macular dystrophy - 'OBSOLETE: Genetic macular dystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited retinal disorder' + 'OBSOLETE: Genetic macular dystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_394081 Label(s): lipoyltransferase 1 - 'lipoyltransferase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98657 Label(s): OBSOLETE: Genetic vitreous-retinal disease - 'OBSOLETE: Genetic vitreous-retinal disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare retinal disorder' + 'OBSOLETE: Genetic vitreous-retinal disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98647 Label(s): OBSOLETE: Cardiac disease with cataract - 'OBSOLETE: Cardiac disease with cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic cataract' + 'OBSOLETE: Cardiac disease with cataract' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_98645 Label(s): OBSOLETE: Cerebral disease with cataract - 'OBSOLETE: Cerebral disease with cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic cataract' + 'OBSOLETE: Cerebral disease with cataract' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_98643 Label(s): OBSOLETE: Systemic disease with cataract - 'OBSOLETE: Systemic disease with cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic cataract' + 'OBSOLETE: Systemic disease with cataract' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_98636 Label(s): OBSOLETE: Corneoiridogoniodysgenesis - 'OBSOLETE: Corneoiridogoniodysgenesis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anterior segment developmental anomaly' + 'OBSOLETE: Corneoiridogoniodysgenesis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Anterior segment developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98633 Label(s): OBSOLETE: Goniodysgenesis - 'OBSOLETE: Goniodysgenesis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anterior segment developmental anomaly' + 'OBSOLETE: Goniodysgenesis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Anterior segment developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98632 Label(s): OBSOLETE: Glaucoma associated with neural crest cell migration anomaly - 'OBSOLETE: Glaucoma associated with neural crest cell migration anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pediatric-onset glaucoma of genetic origin' + 'OBSOLETE: Glaucoma associated with neural crest cell migration anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pediatric-onset glaucoma of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_98617 Label(s): OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma - 'OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98616 Label(s): OBSOLETE: Conjunctival tumor - 'OBSOLETE: Conjunctival tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Conjunctival tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98615 Label(s): OBSOLETE: Pigmented conjunctival lesion - 'OBSOLETE: Pigmented conjunctival lesion' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with conjunctival involvement as a major feature' + 'OBSOLETE: Pigmented conjunctival lesion' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98614 Label(s): OBSOLETE: Conjunctival lymphangiectasia - 'OBSOLETE: Conjunctival lymphangiectasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with conjunctival involvement as a major feature' + 'OBSOLETE: Conjunctival lymphangiectasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98613 Label(s): OBSOLETE: Conjunctival telangiectasia - 'OBSOLETE: Conjunctival telangiectasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with conjunctival involvement as a major feature' + 'OBSOLETE: Conjunctival telangiectasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98612 Label(s): OBSOLETE: Conjunctival hemangioma or hemolymphangioma - 'OBSOLETE: Conjunctival hemangioma or hemolymphangioma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with conjunctival involvement as a major feature' + 'OBSOLETE: Conjunctival hemangioma or hemolymphangioma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98611 Label(s): OBSOLETE: Conjunctival vascular anomaly - 'OBSOLETE: Conjunctival vascular anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with conjunctival involvement as a major feature' + 'OBSOLETE: Conjunctival vascular anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_93207 Label(s): OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change - 'OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic steroid-sensitive nephrotic syndrome' + 'OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98608 Label(s): OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system - 'OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the lacrimal apparatus' + 'OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder of the lacrimal apparatus' Class: http://www.orpha.net/ORDO/Orphanet_98601 Label(s): OBSOLETE: Eyebrow/eyelashes pigmentation anomaly - 'OBSOLETE: Eyebrow/eyelashes pigmentation anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' + 'OBSOLETE: Eyebrow/eyelashes pigmentation anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_98600 Label(s): OBSOLETE: Eyebrow/eyelashes distichiasis - 'OBSOLETE: Eyebrow/eyelashes distichiasis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' + 'OBSOLETE: Eyebrow/eyelashes distichiasis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_276258 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group D - 'OBSOLETE: Xeroderma pigmentosum complementation group D' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' + 'OBSOLETE: Xeroderma pigmentosum complementation group D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_124094 Label(s): paired box 6 - 'paired box 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated optic nerve hypoplasia/aplasia' Class: http://www.orpha.net/ORDO/Orphanet_93944 Label(s): X-linked intellectual disability, Fichera type - 'X-linked intellectual disability, Fichera type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'X-linked intellectual disability, Sutherland-Haan type' + 'X-linked intellectual disability, Fichera type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'X-linked intellectual disability, Sutherland-Haan type' Class: http://www.orpha.net/ORDO/Orphanet_276261 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group E - 'OBSOLETE: Xeroderma pigmentosum complementation group E' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' + 'OBSOLETE: Xeroderma pigmentosum complementation group E' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_419081 Label(s): centromere protein E + 'centromere protein E' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_276267 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group G - 'OBSOLETE: Xeroderma pigmentosum complementation group G' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' + 'OBSOLETE: Xeroderma pigmentosum complementation group G' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_2853 Label(s): Serpentine fibula-polycystic kidneys syndrome - 'Serpentine fibula-polycystic kidneys syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hajdu-Cheney syndrome' + 'Serpentine fibula-polycystic kidneys syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hajdu-Cheney syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2120 Label(s): OBSOLETE: Heckenlively syndrome - 'OBSOLETE: Heckenlively syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare ophthalmic disorder' + 'OBSOLETE: Heckenlively syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare ophthalmic disorder' Class: http://www.orpha.net/ORDO/Orphanet_54238 Label(s): Myotonic dystrophy type 3 - 'Myotonic dystrophy type 3' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' + 'Myotonic dystrophy type 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_314749 Label(s): Rare disease with Cushing syndrome as a major feature - 'Rare disease with Cushing syndrome as a major feature' SubClassOf 'Cushing syndrome' + 'Rare disease with Cushing syndrome as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_647758 Class: http://www.orpha.net/ORDO/Orphanet_120540 Label(s): Wnt family member 4 - 'Wnt family member 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Mayer-Rokitansky-Küster-Hauser syndrome' + 'Wnt family member 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_276627 Label(s): OBSOLETE: Sporadic secreting paraganglioma - 'OBSOLETE: Sporadic secreting paraganglioma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Sporadic pheochromocytoma/secreting paraganglioma' + 'OBSOLETE: Sporadic secreting paraganglioma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Sporadic pheochromocytoma/secreting paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_276624 Label(s): OBSOLETE: Sporadic pheochromocytoma - 'OBSOLETE: Sporadic pheochromocytoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Sporadic pheochromocytoma/secreting paraganglioma' + 'OBSOLETE: Sporadic pheochromocytoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Sporadic pheochromocytoma/secreting paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_1831 Label(s): De Hauwere syndrome - 'De Hauwere syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Axenfeld-Rieger syndrome' + 'De Hauwere syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Axenfeld-Rieger syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352613 Label(s): Male infertility due to NANOS1 mutation - 'Male infertility due to NANOS1 mutation' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Male infertility with teratozoospermia due to single gene mutation' + 'Male infertility due to NANOS1 mutation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Male infertility with teratozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_470756 Label(s): NADH:ubiquinone oxidoreductase subunit B8 - 'NADH:ubiquinone oxidoreductase subunit B8' SubClassOf 'has_chromosomal location' value "10q24.31" - 'NADH:ubiquinone oxidoreductase subunit B8' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' - 'NADH:ubiquinone oxidoreductase subunit B8' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_35099 Label(s): Non-syndromic bicoronal craniosynostosis + 'Non-syndromic bicoronal craniosynostosis' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84271 Label(s): Sporadic idiopathic steroid-resistant nephrotic syndrome - 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Genetic steroid-resistant nephrotic syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3221 Label(s): Generalized resistance to thyroid hormone - 'Generalized resistance to thyroid hormone' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' + 'Generalized resistance to thyroid hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' Class: http://www.orpha.net/ORDO/Orphanet_91365 Label(s): OBSOLETE: Secondary ciliary dyskinesia - 'OBSOLETE: Secondary ciliary dyskinesia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary ciliary dyskinesia' + 'OBSOLETE: Secondary ciliary dyskinesia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_2156 Label(s): OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome - 'OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_284343 Label(s): DICER1 tumor-predisposition syndrome + 'DICER1 tumor-predisposition syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_330197 Label(s): OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome - 'OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_159134 Label(s): activator of transcription and developmental regulator AUTS2 - 'activator of transcription and developmental regulator AUTS2' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'activator of transcription and developmental regulator AUTS2' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_641372 Class: http://www.orpha.net/ORDO/Orphanet_99874 Label(s): OBSOLETE: Adult pulmonary Langerhans cell histiocytosis - 'OBSOLETE: Adult pulmonary Langerhans cell histiocytosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' + 'OBSOLETE: Adult pulmonary Langerhans cell histiocytosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_99875 Label(s): OBSOLETE: Ehlers-Danlos syndrome type 7A - 'OBSOLETE: Ehlers-Danlos syndrome type 7A' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arthrochalasia Ehlers-Danlos syndrome' + 'OBSOLETE: Ehlers-Danlos syndrome type 7A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Arthrochalasia Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99876 Label(s): OBSOLETE: Ehlers-Danlos syndrome type 7B - 'OBSOLETE: Ehlers-Danlos syndrome type 7B' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arthrochalasia Ehlers-Danlos syndrome' + 'OBSOLETE: Ehlers-Danlos syndrome type 7B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Arthrochalasia Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99878 Label(s): OBSOLETE: Primary parathyroid hyperplasia - 'OBSOLETE: Primary parathyroid hyperplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated hyperparathyroidism' + 'OBSOLETE: Primary parathyroid hyperplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial isolated hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_88644 Label(s): Autosomal recessive ataxia, Beauce type + 'Autosomal recessive ataxia, Beauce type' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_88636 Label(s): Aortic dilatation-joint hypermobility-arterial tortuosity syndrome - 'Aortic dilatation-joint hypermobility-arterial tortuosity syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Familial thoracic aortic aneurysm and aortic dissection' + 'Aortic dilatation-joint hypermobility-arterial tortuosity syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Familial thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_2168 Label(s): Homocarnosinosis - 'Homocarnosinosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive spastic paraplegia type 11' + 'Homocarnosinosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal recessive spastic paraplegia type 11' Class: http://www.orpha.net/ORDO/Orphanet_3271 Label(s): Radio-ulnar synostosis-retinal pigment abnormalities syndrome - 'Radio-ulnar synostosis-retinal pigment abnormalities syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cohen syndrome' + 'Radio-ulnar synostosis-retinal pigment abnormalities syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cohen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2161 Label(s): OBSOLETE: Holoacardius amorphus - 'OBSOLETE: Holoacardius amorphus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare developmental defect during embryogenesis' + 'OBSOLETE: Holoacardius amorphus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_82004 Label(s): Ehlers-Danlos syndrome with periventricular heterotopia - 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Periventricular nodular heterotopia' + 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Periventricular nodular heterotopia' Class: http://www.orpha.net/ORDO/Orphanet_3284 Label(s): OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome - 'OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' + 'OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_252 Label(s): OBSOLETE: Spondyloepimetaphyseal dysplasia - 'OBSOLETE: Spondyloepimetaphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'OBSOLETE: Spondyloepimetaphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_98599 Label(s): OBSOLETE: Eyebrow/eyelashes structural anomaly - 'OBSOLETE: Eyebrow/eyelashes structural anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' + 'OBSOLETE: Eyebrow/eyelashes structural anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_98598 Label(s): OBSOLETE: Congenital absence of the eyebrow/eyelashes - 'OBSOLETE: Congenital absence of the eyebrow/eyelashes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' + 'OBSOLETE: Congenital absence of the eyebrow/eyelashes' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_98597 Label(s): OBSOLETE: Eyelashes hypertrophy - 'OBSOLETE: Eyelashes hypertrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' + 'OBSOLETE: Eyelashes hypertrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_98596 Label(s): OBSOLETE: Eyebrow hypertrophy - 'OBSOLETE: Eyebrow hypertrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' + 'OBSOLETE: Eyebrow hypertrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_98595 Label(s): OBSOLETE: Eyebrow/eyelashes hypertrichosis - 'OBSOLETE: Eyebrow/eyelashes hypertrichosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with hypertrichosis' + 'OBSOLETE: Eyebrow/eyelashes hypertrichosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder with hypertrichosis' Class: http://www.orpha.net/ORDO/Orphanet_98593 Label(s): OBSOLETE: Neurogenic palpebral tumor - 'OBSOLETE: Neurogenic palpebral tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Neurogenic palpebral tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98590 Label(s): OBSOLETE: Palpebral piliary tumor - 'OBSOLETE: Palpebral piliary tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Palpebral piliary tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_435554 Label(s): Genetic precocious puberty - 'Genetic precocious puberty' SubClassOf 'Rare genetic endocrine disease' + 'Genetic precocious puberty' SubClassOf 'Genetic endocrine growth disease' Class: http://www.orpha.net/ORDO/Orphanet_98589 Label(s): OBSOLETE: Palpebral malignant melanoma - 'OBSOLETE: Palpebral malignant melanoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Palpebral malignant melanoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98588 Label(s): OBSOLETE: Palpebral nevus - 'OBSOLETE: Palpebral nevus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare nevus' + 'OBSOLETE: Palpebral nevus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_98586 Label(s): OBSOLETE: Pigmented palpebral tumor - 'OBSOLETE: Pigmented palpebral tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Pigmented palpebral tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98585 Label(s): OBSOLETE: Palpebral sebaceous gland tumor - 'OBSOLETE: Palpebral sebaceous gland tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Palpebral sebaceous gland tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98584 Label(s): OBSOLETE: Malignant tumor of palpebral epidermis - 'OBSOLETE: Malignant tumor of palpebral epidermis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Malignant tumor of palpebral epidermis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98583 Label(s): OBSOLETE: Precancerous lesion of palpebral epidermis - 'OBSOLETE: Precancerous lesion of palpebral epidermis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Precancerous lesion of palpebral epidermis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98581 Label(s): OBSOLETE: Palpebral epidermal tumor - 'OBSOLETE: Palpebral epidermal tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Palpebral epidermal tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_505208 Label(s): 3-methylglutaconic aciduria type 8 + '3-methylglutaconic aciduria type 8' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98577 Label(s): OBSOLETE: Kinetic eyelid anomaly - 'OBSOLETE: Kinetic eyelid anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare palpebral disorder' + 'OBSOLETE: Kinetic eyelid anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare palpebral disorder' Class: http://www.orpha.net/ORDO/Orphanet_2129 Label(s): OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome - 'OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98573 Label(s): OBSOLETE: Epicanthal fold - 'OBSOLETE: Epicanthal fold' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic epicanthus' + 'OBSOLETE: Epicanthal fold' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic epicanthus' Class: http://www.orpha.net/ORDO/Orphanet_98572 Label(s): OBSOLETE: Canthal anomaly - 'OBSOLETE: Canthal anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare palpebral disorder' + 'OBSOLETE: Canthal anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare palpebral disorder' Class: http://www.orpha.net/ORDO/Orphanet_2124 Label(s): Cavernous hemangiomas of face-supraumbilical midline raphe syndrome - 'Cavernous hemangiomas of face-supraumbilical midline raphe syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'PHACE syndrome' + 'Cavernous hemangiomas of face-supraumbilical midline raphe syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'PHACE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96369 Label(s): Early-onset schizophrenia - 'Early-onset schizophrenia' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - 'Early-onset schizophrenia' SubClassOf 'disease' - 'Early-onset schizophrenia' SubClassOf 'disorder' + 'Early-onset schizophrenia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_641496 + 'Early-onset schizophrenia' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_98309 Label(s): OBSOLETE: Male infertility with impaired virilization - 'OBSOLETE: Male infertility with impaired virilization' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98569 Label(s): OBSOLETE: Secondary entropion - 'OBSOLETE: Secondary entropion' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with entropion' + 'OBSOLETE: Secondary entropion' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder with entropion' Class: http://www.orpha.net/ORDO/Orphanet_254519 Label(s): Kagami-Ogata syndrome + 'Kagami-Ogata syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_254516 Label(s): Temple syndrome + 'Temple syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_98318 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin - 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98323 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease - 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98326 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder - 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98327 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease - 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_2190 Label(s): OBSOLETE: Congenital hydronephrosis - 'OBSOLETE: Congenital hydronephrosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic renal or urinary tract malformation' + 'OBSOLETE: Congenital hydronephrosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_98337 Label(s): OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation - 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98340 Label(s): OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity - 'OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98345 Label(s): OBSOLETE: Rare idiopathic male infertility - 'OBSOLETE: Rare idiopathic male infertility' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Rare idiopathic male infertility' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_268874 Label(s): OBSOLETE: Congenital hydromyelia - 'OBSOLETE: Congenital hydromyelia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary syringomyelia' + 'OBSOLETE: Congenital hydromyelia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_268871 Label(s): OBSOLETE: Primary syringomyelia/hydromyelia - 'OBSOLETE: Primary syringomyelia/hydromyelia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary syringomyelia' + 'OBSOLETE: Primary syringomyelia/hydromyelia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_98520 Label(s): OBSOLETE: Cystic malformation of the posterior fossa - 'OBSOLETE: Cystic malformation of the posterior fossa' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central nervous system cystic malformation' + 'OBSOLETE: Cystic malformation of the posterior fossa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Central nervous system cystic malformation' Class: http://www.orpha.net/ORDO/Orphanet_217052 Label(s): OBSOLETE: Infantile non-syndromic cataract - 'OBSOLETE: Infantile non-syndromic cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset non-syndromic cataract' + 'OBSOLETE: Infantile non-syndromic cataract' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_217046 Label(s): OBSOLETE: Autosomal recessive childhood-onset cortical cataract - 'OBSOLETE: Autosomal recessive childhood-onset cortical cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset partial cataract' + 'OBSOLETE: Autosomal recessive childhood-onset cortical cataract' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Early-onset partial cataract' Class: http://www.orpha.net/ORDO/Orphanet_500055 Label(s): 16p13.2 microdeletion syndrome - '16p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - '16p13.2 microdeletion syndrome' SubClassOf 'disorder' - '16p13.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '16p13.2 microdeletion syndrome' SubClassOf 'subtype of a disorder' + '16p13.2 microdeletion syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_643549 Class: http://www.orpha.net/ORDO/Orphanet_217034 Label(s): Male infertility with normal virilization due to meiosis defect - 'Male infertility with normal virilization due to meiosis defect' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'Male infertility with normal virilization due to meiosis defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_268838 Label(s): Leptomyelolipoma - 'Leptomyelolipoma' SubClassOf 'Morphological anomaly' - 'Leptomyelolipoma' SubClassOf 'disorder' - 'Leptomyelolipoma' SubClassOf 'part_of' some 'Lipoma associated with neurospinal dysraphism' + 'Leptomyelolipoma' SubClassOf 'obsolete disorder' + 'Leptomyelolipoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_645367 Class: http://www.orpha.net/ORDO/Orphanet_268835 Label(s): Lipomyelomeningocele - 'Lipomyelomeningocele' SubClassOf 'part_of' some 'Lipoma associated with neurospinal dysraphism' - 'Lipomyelomeningocele' SubClassOf 'Morphological anomaly' - 'Lipomyelomeningocele' SubClassOf 'disorder' + 'Lipomyelomeningocele' SubClassOf 'deprecated disorder' + 'Lipomyelomeningocele' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some http://www.orpha.net/ORDO/Orphanet_645367 Class: http://www.orpha.net/ORDO/Orphanet_268832 Label(s): Lipoma associated with neurospinal dysraphism - 'Lipoma associated with neurospinal dysraphism' SubClassOf 'group of disorders' - 'Lipoma associated with neurospinal dysraphism' SubClassOf 'Neural tube closure defect' + 'Lipoma associated with neurospinal dysraphism' SubClassOf 'obsolete group of disorder' + 'Lipoma associated with neurospinal dysraphism' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_645273 Class: http://www.orpha.net/ORDO/Orphanet_217023 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly - 'OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' + 'OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_268817 Label(s): Cephalocele - 'Cephalocele' SubClassOf 'Neural tube closure defect' + 'Cephalocele' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_624166 Label(s): Non-specific autoimmune supratentorial encephalitis with characteristic antibodies + 'Non-specific autoimmune supratentorial encephalitis with characteristic antibodies' SubClassOf 'part_of' some 'Paraneoplastic neurologic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268813 Label(s): Myelocystocele - 'Myelocystocele' SubClassOf 'Morphological anomaly' - 'Myelocystocele' SubClassOf 'disorder' - 'Myelocystocele' SubClassOf 'part_of' some 'Spina bifida cystica' + 'Myelocystocele' SubClassOf 'Spina bifida cystica' + 'Myelocystocele' SubClassOf 'group of disorders' + 'Myelocystocele' SubClassOf http://www.orpha.net/ORDO/Orphanet_645202 Class: http://www.orpha.net/ORDO/Orphanet_268810 Label(s): Posterior meningocele + 'Posterior meningocele' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_645202 Class: http://www.orpha.net/ORDO/Orphanet_207031 Label(s): OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy - 'OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Corpus callosum agenesis-neuronopathy syndrome' + 'OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Corpus callosum agenesis-neuronopathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306446 Label(s): OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance - 'OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital sucrase-isomaltase deficiency' + 'OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_100991 Label(s): Autosomal dominant spastic paraplegia type 10 + 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93957 Label(s): OBSOLETE: Limb dystonia - 'OBSOLETE: Limb dystonia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' + 'OBSOLETE: Limb dystonia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_34527 Label(s): OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia - 'OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare renal tubular disease' + 'OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_34526 Label(s): OBSOLETE: Genetic primary hypomagnesemia - 'OBSOLETE: Genetic primary hypomagnesemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare renal tubular disease' + 'OBSOLETE: Genetic primary hypomagnesemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_93445 Label(s): OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement - 'OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with increased bone density' + 'OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_93962 Label(s): OBSOLETE: Cervical dystonia - 'OBSOLETE: Cervical dystonia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' + 'OBSOLETE: Cervical dystonia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_163908 Label(s): OBSOLETE: Limbic encephalitis with LGI1 antibodies - 'OBSOLETE: Limbic encephalitis with LGI1 antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Limbic encephalitis with LGI1 antibodies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_34517 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1E - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Desminopathy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Desminopathy' Class: http://www.orpha.net/ORDO/Orphanet_309139 Label(s): OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA - 'OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_168972 Label(s): Kahrizi syndrome - 'Kahrizi syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'SRD5A3-CDG' + 'Kahrizi syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'SRD5A3-CDG' Class: http://www.orpha.net/ORDO/Orphanet_1409 Label(s): Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome - 'Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Woolly hair' + 'Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Woolly hair' Class: http://www.orpha.net/ORDO/Orphanet_206713 Label(s): OBSOLETE: Distal spinal muscular atrophy - 'OBSOLETE: Distal spinal muscular atrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Distal hereditary motor neuropathy' + 'OBSOLETE: Distal spinal muscular atrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_169446 Label(s): OBSOLETE: Autosomal recessive hyper-IgE syndrome - 'OBSOLETE: Autosomal recessive hyper-IgE syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hyper-IgE syndrome' + 'OBSOLETE: Autosomal recessive hyper-IgE syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_46658 Label(s): Primordial short stature-microdontia-opalescent and rootless teeth syndrome - 'Primordial short stature-microdontia-opalescent and rootless teeth syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Microcephalic osteodysplastic primordial dwarfism type II' + 'Primordial short stature-microdontia-opalescent and rootless teeth syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Microcephalic osteodysplastic primordial dwarfism type II' Class: http://www.orpha.net/ORDO/Orphanet_156071 Label(s): OBSOLETE: Keratoconus - 'OBSOLETE: Keratoconus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic keratoconus' + 'OBSOLETE: Keratoconus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic keratoconus' Class: http://www.orpha.net/ORDO/Orphanet_404546 Label(s): DITRA - 'DITRA' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' + 'DITRA' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_216989 Label(s): Autosomal dominant dystrophic epidermolysis bullosa, Pasini type - 'Autosomal dominant dystrophic epidermolysis bullosa, Pasini type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant generalized dystrophic epidermolysis bullosa' + 'Autosomal dominant dystrophic epidermolysis bullosa, Pasini type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal dominant generalized dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_3340 Label(s): OBSOLETE: Torres-Aybar syndrome - 'OBSOLETE: Torres-Aybar syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'OBSOLETE: Torres-Aybar syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2087 Label(s): Glomerulonephritis-sparse hair-telangiectasis syndrome - 'Glomerulonephritis-sparse hair-telangiectasis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome' + 'Glomerulonephritis-sparse hair-telangiectasis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123747 Label(s): NADH:ubiquinone oxidoreductase core subunit V2 - 'NADH:ubiquinone oxidoreductase core subunit V2' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_3354 Label(s): OBSOLETE: Tricho-oculo-dermo-vertebral syndrome - 'OBSOLETE: Tricho-oculo-dermo-vertebral syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arthrogryposis-ectodermal dysplasia syndrome' + 'OBSOLETE: Tricho-oculo-dermo-vertebral syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Arthrogryposis-ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1153 Label(s): OBSOLETE: Transient neonatal arthrogryposis - 'OBSOLETE: Transient neonatal arthrogryposis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arthrogryposis multiplex congenita' + 'OBSOLETE: Transient neonatal arthrogryposis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_1167 Label(s): OBSOLETE: Facial asymmetry-temporal seizures syndrome - 'OBSOLETE: Facial asymmetry-temporal seizures syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial partial epilepsy' + 'OBSOLETE: Facial asymmetry-temporal seizures syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_52183 Label(s): Premature chromosome condensation with microcephaly and intellectual disability - 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive primary microcephaly' + 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_1432 Label(s): Autosomal dominant chorioretinopathy-microcephaly syndrome - 'Autosomal dominant chorioretinopathy-microcephaly syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Microcephaly-lymphedema-chorioretinopathy syndrome' + 'Autosomal dominant chorioretinopathy-microcephaly syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Microcephaly-lymphedema-chorioretinopathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_225968 Label(s): OBSOLETE: Inherited predisposition to essential thrombocythemia - 'OBSOLETE: Inherited predisposition to essential thrombocythemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Essential thrombocythemia' + 'OBSOLETE: Inherited predisposition to essential thrombocythemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Essential thrombocythemia' Class: http://www.orpha.net/ORDO/Orphanet_3022 Label(s): Rapp-Hodgkin syndrome - 'Rapp-Hodgkin syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' + 'Rapp-Hodgkin syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' Class: http://www.orpha.net/ORDO/Orphanet_94095 Label(s): OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome - 'OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with predominant vertebral and costal involvement' + 'OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_94089 Label(s): Pseudohypoparathyroidism type 1B + 'Pseudohypoparathyroidism type 1B' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_3391 Label(s): Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome - 'Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Scalp-ear-nipple syndrome' + 'Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Scalp-ear-nipple syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119908 Label(s): T-box transcription factor T - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Total spina bifida cystica' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida aperta' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Total spina bifida aperta' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida cystica' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'T-box transcription factor T' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_2033 Label(s): OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome - 'OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare neurologic disease' + 'OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_94061 Label(s): OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome - 'OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary immunodeficiency' + 'OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_98470 Label(s): OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly - 'OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular dystrophy' + 'OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_759 Label(s): Central precocious puberty - 'Central precocious puberty' SubClassOf 'part_of' some 'Precocious puberty in female' - 'Central precocious puberty' SubClassOf 'part_of' some 'Rare precocious puberty' - 'Central precocious puberty' SubClassOf 'disease' - 'Central precocious puberty' SubClassOf 'disorder' + 'Central precocious puberty' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_98468 Label(s): OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly - 'OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular dystrophy' + 'OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98464 Label(s): OBSOLETE: X-linked syndromic intellectual disability - 'OBSOLETE: X-linked syndromic intellectual disability' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: X-linked syndromic intellectual disability' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3046 Label(s): OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type - 'OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_240989 Label(s): OBSOLETE: Susceptibility to adverse reaction due to venlafaxine treatment - 'OBSOLETE: Susceptibility to adverse reaction due to venlafaxine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to venlafaxine treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_276402 Label(s): OBSOLETE: Limbic encephalitis with caspr2 antibodies - 'OBSOLETE: Limbic encephalitis with caspr2 antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Limbic encephalitis with caspr2 antibodies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_330009 Label(s): OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk - 'OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Poliomyelitis' + 'OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Poliomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_36205 Label(s): OBSOLETE: Collagenous colitis - 'OBSOLETE: Collagenous colitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inflammatory bowel disease' + 'OBSOLETE: Collagenous colitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_207009 Label(s): OBSOLETE: Acquired rod-body myopathy - 'OBSOLETE: Acquired rod-body myopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired skeletal muscle disease' + 'OBSOLETE: Acquired rod-body myopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_207006 Label(s): OBSOLETE: Acquired amyloid myopathy - 'OBSOLETE: Acquired amyloid myopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired skeletal muscle disease' + 'OBSOLETE: Acquired amyloid myopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_207003 Label(s): OBSOLETE: Endocrine myopathy - 'OBSOLETE: Endocrine myopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired skeletal muscle disease' + 'OBSOLETE: Endocrine myopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_268770 Label(s): Upper thoracic spina bifida cystica - 'Upper thoracic spina bifida cystica' SubClassOf 'subtype of a disorder' - 'Upper thoracic spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' + 'Upper thoracic spina bifida cystica' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida cystica' + 'Upper thoracic spina bifida cystica' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_255241 Label(s): Leigh syndrome with leukodystrophy - 'Leigh syndrome with leukodystrophy' SubClassOf 'disease' - 'Leigh syndrome with leukodystrophy' SubClassOf 'disorder' - 'Leigh syndrome with leukodystrophy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - 'Leigh syndrome with leukodystrophy' SubClassOf 'part_of' some 'Leigh syndrome' + 'Leigh syndrome with leukodystrophy' SubClassOf 'deprecated disorder' + 'Leigh syndrome with leukodystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3065 Label(s): X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome - 'X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Monoamine oxidase A deficiency' + 'X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Monoamine oxidase A deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1767 Label(s): Familial progressive vestibulocochlear dysfunction - 'Familial progressive vestibulocochlear dysfunction' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'Familial progressive vestibulocochlear dysfunction' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_98454 Label(s): OBSOLETE: Platelet storage pool disease - 'OBSOLETE: Platelet storage pool disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' + 'OBSOLETE: Platelet storage pool disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_268766 Label(s): Cervicothoracic spina bifida cystica - 'Cervicothoracic spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Cervicothoracic spina bifida cystica' SubClassOf 'subtype of a disorder' + 'Cervicothoracic spina bifida cystica' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida cystica' + 'Cervicothoracic spina bifida cystica' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_268762 Label(s): Cervical spina bifida cystica - 'Cervical spina bifida cystica' SubClassOf 'subtype of a disorder' - 'Cervical spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' + 'Cervical spina bifida cystica' SubClassOf 'obsolete subtype of disorder' + 'Cervical spina bifida cystica' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_268758 Label(s): Lumbosacral spina bifida cystica - 'Lumbosacral spina bifida cystica' SubClassOf 'subtype of a disorder' - 'Lumbosacral spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' + 'Lumbosacral spina bifida cystica' SubClassOf 'obsolete subtype of disorder' + 'Lumbosacral spina bifida cystica' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_268752 Label(s): Thoracolumbosacral spina bifida cystica - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'subtype of a disorder' + 'Thoracolumbosacral spina bifida cystica' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida cystica' + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_268748 Label(s): Total spina bifida cystica - 'Total spina bifida cystica' SubClassOf 'subtype of a disorder' - 'Total spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' + 'Total spina bifida cystica' SubClassOf 'obsolete subtype of disorder' + 'Total spina bifida cystica' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_268740 Label(s): Upper thoracic spina bifida aperta - 'Upper thoracic spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Upper thoracic spina bifida aperta' SubClassOf 'subtype of a disorder' + 'Upper thoracic spina bifida aperta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida aperta' + 'Upper thoracic spina bifida aperta' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_268369 Label(s): Spina bifida aperta - 'Spina bifida aperta' SubClassOf 'part_of' some 'Isolated spina bifida' - 'Spina bifida aperta' SubClassOf 'Morphological anomaly' - 'Spina bifida aperta' SubClassOf 'disorder' + 'Spina bifida aperta' SubClassOf 'group of disorders' + 'Spina bifida aperta' SubClassOf 'Isolated spina bifida' Class: http://www.orpha.net/ORDO/Orphanet_1474 Label(s): Colobomatous-microphthalmia-heart disease-hearing loss syndrome - 'Colobomatous-microphthalmia-heart disease-hearing loss syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'CHARGE syndrome' + 'Colobomatous-microphthalmia-heart disease-hearing loss syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'CHARGE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_201567 Label(s): translational activator of cytochrome c oxidase I - 'translational activator of cytochrome c oxidase I' SubClassOf 'gene with protein product' - 'translational activator of cytochrome c oxidase I' SubClassOf 'has_chromosomal location' value "17q23.3" - 'translational activator of cytochrome c oxidase I' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_294937 Label(s): OBSOLETE: Brachydactyly - 'OBSOLETE: Brachydactyly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' + 'OBSOLETE: Brachydactyly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_217049 Label(s): OBSOLETE: Rare non-syndromic cataract - 'OBSOLETE: Rare non-syndromic cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset non-syndromic cataract' + 'OBSOLETE: Rare non-syndromic cataract' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_103917 Label(s): OBSOLETE: Autoimmune enteropathy type 3 - 'OBSOLETE: Autoimmune enteropathy type 3' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic autoimmune enteropathy' + 'OBSOLETE: Autoimmune enteropathy type 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic autoimmune enteropathy' Class: http://www.orpha.net/ORDO/Orphanet_103919 Label(s): Autoimmune pancreatitis - 'Autoimmune pancreatitis' SubClassOf 'IgG4-related disease' Class: http://www.orpha.net/ORDO/Orphanet_156156 Label(s): Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy - 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Atypical Werner syndrome' + 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Atypical Werner syndrome' Class: http://www.orpha.net/ORDO/Orphanet_156723 Label(s): Piepkorn dysplasia - 'Piepkorn dysplasia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Boomerang dysplasia' + 'Piepkorn dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Boomerang dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1984 Label(s): Fechtner syndrome - 'Fechtner syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MYH9-related disease' + 'Fechtner syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'MYH9-related disease' Class: http://www.orpha.net/ORDO/Orphanet_1981 Label(s): Fanconi syndrome-ichthyosis-dysmorphism syndrome - 'Fanconi syndrome-ichthyosis-dysmorphism syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Arthrogryposis-renal dysfunction-cholestasis syndrome' + 'Fanconi syndrome-ichthyosis-dysmorphism syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Arthrogryposis-renal dysfunction-cholestasis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295085 Label(s): OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral - 'OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of upper arm and forearm with hand present' + 'OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital absence of upper arm and forearm with hand present' Class: http://www.orpha.net/ORDO/Orphanet_206979 Label(s): OBSOLETE: Granulomatous myositis - 'OBSOLETE: Granulomatous myositis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic inflammatory myopathy' + 'OBSOLETE: Granulomatous myositis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_299657 Label(s): mitochondrial methionyl-tRNA formyltransferase - 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1956 Label(s): OBSOLETE: Erythromelalgia - 'OBSOLETE: Erythromelalgia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary erythromelalgia' + 'OBSOLETE: Erythromelalgia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary erythromelalgia' Class: http://www.orpha.net/ORDO/Orphanet_476149 Label(s): KIAA0753 + 'KIAA0753' SubClassOf 'disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'KIAA0753' SubClassOf 'disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93975 Label(s): OBSOLETE: Renier-Gabreels-Jasper syndrome - 'OBSOLETE: Renier-Gabreels-Jasper syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-specific syndromic intellectual disability' + 'OBSOLETE: Renier-Gabreels-Jasper syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93974 Label(s): Smith-Fineman-Myers syndrome - 'Smith-Fineman-Myers syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' + 'Smith-Fineman-Myers syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93972 Label(s): Juberg-Marsidi syndrome - 'Juberg-Marsidi syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Non-specific syndromic intellectual disability' + 'Juberg-Marsidi syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93971 Label(s): Chudley-Lowry-Hoar syndrome - 'Chudley-Lowry-Hoar syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' + 'Chudley-Lowry-Hoar syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93970 Label(s): Holmes-Gang syndrome - 'Holmes-Gang syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' + 'Holmes-Gang syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84096 Label(s): OBSOLETE: Unknown leukodystrophy - 'OBSOLETE: Unknown leukodystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Leukodystrophy' + 'OBSOLETE: Unknown leukodystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_93969 Label(s): Myelomeningocele - 'Myelomeningocele' SubClassOf 'part_of' some 'Spina bifida cystica' + 'Myelomeningocele' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_645270 Class: http://www.orpha.net/ORDO/Orphanet_93968 Label(s): Meningocele - 'Meningocele' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Isolated spina bifida' + 'Meningocele' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Isolated spina bifida' Class: http://www.orpha.net/ORDO/Orphanet_93963 Label(s): OBSOLETE: Autosomal dominant focal dystonia, DYT7 type - 'OBSOLETE: Autosomal dominant focal dystonia, DYT7 type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' + 'OBSOLETE: Autosomal dominant focal dystonia, DYT7 type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_93961 Label(s): OBSOLETE: Laryngeal dyskinesia - 'OBSOLETE: Laryngeal dyskinesia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' + 'OBSOLETE: Laryngeal dyskinesia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_93956 Label(s): OBSOLETE: Truncal dystonia - 'OBSOLETE: Truncal dystonia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' + 'OBSOLETE: Truncal dystonia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_93951 Label(s): OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome - 'OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked intellectual disability-epilepsy syndrome' + 'OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'X-linked intellectual disability-epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306588 Label(s): OBSOLETE: Autosomal dominant Opitz G/BBB syndrome - 'OBSOLETE: Autosomal dominant Opitz G/BBB syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Opitz GBBB syndrome' + 'OBSOLETE: Autosomal dominant Opitz G/BBB syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Opitz GBBB syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3421 Label(s): Cerebroretinal vasculopathy - 'Cerebroretinal vasculopathy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' + 'Cerebroretinal vasculopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_93943 Label(s): Corpus callosum dysgenesis-hypopituitarism syndrome - 'Corpus callosum dysgenesis-hypopituitarism syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' + 'Corpus callosum dysgenesis-hypopituitarism syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_426564 Label(s): enoyl-CoA hydratase, short chain 1 - 'enoyl-CoA hydratase, short chain 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'enoyl-CoA hydratase, short chain 1' SubClassOf 'has_chromosomal location' value "10q26.3" - 'enoyl-CoA hydratase, short chain 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_476102 Label(s): Hereditary pediatric Behçet-like disease - 'Hereditary pediatric Behçet-like disease' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' + 'Hereditary pediatric Behçet-like disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_419 Label(s): Hyperprolinemia type 1 + 'Hyperprolinemia type 1' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1258 Label(s): OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome - 'OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_284113 Label(s): OBSOLETE: Prediction of susceptibility to adverse reaction due to mercaptopurine - 'OBSOLETE: Prediction of susceptibility to adverse reaction due to mercaptopurine' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Prediction of susceptibility to adverse reaction due to mercaptopurine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_1271 Label(s): Bowen syndrome - 'Bowen syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Zellweger syndrome' + 'Bowen syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Zellweger syndrome' Class: http://www.orpha.net/ORDO/Orphanet_519296 Label(s): Rare disorder with pigmented sclera + 'Rare disorder with pigmented sclera' SubClassOf 'Rare genetic disorder of the visual organs' Class: http://www.orpha.net/ORDO/Orphanet_519298 Label(s): Rare scleral disorder - 'Rare scleral disorder' SubClassOf 'Rare genetic disorder of the visual organs' Class: http://www.orpha.net/ORDO/Orphanet_99069 Label(s): OBSOLETE: Univentricular heart with single atrio-ventricular valve - 'OBSOLETE: Univentricular heart with single atrio-ventricular valve' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Univentricular heart' + 'OBSOLETE: Univentricular heart with single atrio-ventricular valve' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Univentricular heart' Class: http://www.orpha.net/ORDO/Orphanet_306566 Label(s): OBSOLETE: Susceptibility to myopathies due to statin treatment - 'OBSOLETE: Susceptibility to myopathies due to statin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' + 'OBSOLETE: Susceptibility to myopathies due to statin treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_294049 Label(s): Reunion Island Larsen-like syndrome - 'Reunion Island Larsen-like syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome' + 'Reunion Island Larsen-like syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96152 Label(s): OBSOLETE: Distal monosomy 20q - 'OBSOLETE: Distal monosomy 20q' SubClassOf http://www.orpha.net/ORDO/referred_to some '20q13.33 microdeletion syndrome' + 'OBSOLETE: Distal monosomy 20q' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some '20q13.33 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_182076 Label(s): OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability - 'OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_182073 Label(s): OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability - 'OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_100932 Label(s): OBSOLETE: Nuclear oculomotor paralysis - 'OBSOLETE: Nuclear oculomotor paralysis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare ophthalmic disorder with cranial nerve involvement' + 'OBSOLETE: Nuclear oculomotor paralysis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare ophthalmic disorder with cranial nerve involvement' Class: http://www.orpha.net/ORDO/Orphanet_294023 Label(s): Neonatal inflammatory skin and bowel disease - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_163898 Label(s): OBSOLETE: Classic paraneoplastic limbic encephalitis - 'OBSOLETE: Classic paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Classic paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_306474 Label(s): OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance - 'OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital sucrase-isomaltase deficiency' + 'OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98342 Label(s): OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury - 'OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98341 Label(s): OBSOLETE: Male infertility with normal virilization due to a systemic disease - 'OBSOLETE: Male infertility with normal virilization due to a systemic disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with normal virilization due to a systemic disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98469 Label(s): OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly - 'OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular dystrophy' + 'OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_79211 Label(s): OBSOLETE: Combined hyperlipidemia - 'OBSOLETE: Combined hyperlipidemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hyperlipidemia' + 'OBSOLETE: Combined hyperlipidemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare hyperlipidemia' Class: http://www.orpha.net/ORDO/Orphanet_98339 Label(s): OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin - 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98335 Label(s): OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect - 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98334 Label(s): OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele - 'OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Male infertility due to gonadal dysgenesis or sperm disorder' + 'OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Male infertility due to gonadal dysgenesis or sperm disorder' Class: http://www.orpha.net/ORDO/Orphanet_98333 Label(s): OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism - 'OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Male infertility due to gonadal dysgenesis or sperm disorder' + 'OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Male infertility due to gonadal dysgenesis or sperm disorder' Class: http://www.orpha.net/ORDO/Orphanet_98332 Label(s): OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect - 'OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Male infertility due to gonadal dysgenesis or sperm disorder' + 'OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Male infertility due to gonadal dysgenesis or sperm disorder' Class: http://www.orpha.net/ORDO/Orphanet_98331 Label(s): OBSOLETE: Male infertility with normal virilization due to a testicular defect - 'OBSOLETE: Male infertility with normal virilization due to a testicular defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility due to testicular endocrine disorder' + 'OBSOLETE: Male infertility with normal virilization due to a testicular defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility due to testicular endocrine disorder' Class: http://www.orpha.net/ORDO/Orphanet_98330 Label(s): OBSOLETE: Male infertility with normal virilization due to androgen administration - 'OBSOLETE: Male infertility with normal virilization due to androgen administration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility due to testicular endocrine disorder' + 'OBSOLETE: Male infertility with normal virilization due to androgen administration' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility due to testicular endocrine disorder' Class: http://www.orpha.net/ORDO/Orphanet_98329 Label(s): OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect - 'OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' Class: http://www.orpha.net/ORDO/Orphanet_98328 Label(s): OBSOLETE: Male infertility with normal virilization - 'OBSOLETE: Male infertility with normal virilization' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with normal virilization' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98325 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis - 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98324 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness - 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98321 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease - 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98320 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease - 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98558 Label(s): OBSOLETE: Rare eye disease due to a differentiation anomaly - 'OBSOLETE: Rare eye disease due to a differentiation anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Developmental defect of the eye' + 'OBSOLETE: Rare eye disease due to a differentiation anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_98559 Label(s): OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease - 'OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the ocular adnexa' + 'OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder of the ocular adnexa' Class: http://www.orpha.net/ORDO/Orphanet_391658 Label(s): OBSOLETE: Cowpox infection - 'OBSOLETE: Cowpox infection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Human infection by orthopoxvirus' + 'OBSOLETE: Cowpox infection' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Human infection by orthopoxvirus' Class: http://www.orpha.net/ORDO/Orphanet_98319 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity - 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98317 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related - 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98316 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma - 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98315 Label(s): OBSOLETE: Male infertility with impaired virilization due to a viral orchitis - 'OBSOLETE: Male infertility with impaired virilization due to a viral orchitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to a viral orchitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98314 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect - 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98311 Label(s): OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia - 'OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prolactinoma' + 'OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prolactinoma' Class: http://www.orpha.net/ORDO/Orphanet_98310 Label(s): OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder - 'OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' Class: http://www.orpha.net/ORDO/Orphanet_98568 Label(s): OBSOLETE: Congenital entropion - 'OBSOLETE: Congenital entropion' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with entropion' + 'OBSOLETE: Congenital entropion' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder with entropion' Class: http://www.orpha.net/ORDO/Orphanet_98629 Label(s): OBSOLETE: Rare glaucoma - 'OBSOLETE: Rare glaucoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pediatric-onset glaucoma of genetic origin' + 'OBSOLETE: Rare glaucoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pediatric-onset glaucoma of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_98579 Label(s): OBSOLETE: Congenital upper palpebral retraction - 'OBSOLETE: Congenital upper palpebral retraction' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare palpebral disorder' + 'OBSOLETE: Congenital upper palpebral retraction' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare palpebral disorder' Class: http://www.orpha.net/ORDO/Orphanet_281884 Label(s): nodal growth differentiation factor + 'nodal growth differentiation factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_294994 Label(s): OBSOLETE: Split foot - 'OBSOLETE: Split foot' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' + 'OBSOLETE: Split foot' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_98591 Label(s): OBSOLETE: Mesenchymatous palpebral tumor - 'OBSOLETE: Mesenchymatous palpebral tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Mesenchymatous palpebral tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98592 Label(s): OBSOLETE: Palpebral tumor with a vascular malformation - 'OBSOLETE: Palpebral tumor with a vascular malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Palpebral tumor with a vascular malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_240881 Label(s): OBSOLETE: Glipizide toxicity - 'OBSOLETE: Glipizide toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Glipizide toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_295207 Label(s): OBSOLETE: Humero-radio-ulnar synostosis, bilateral - 'OBSOLETE: Humero-radio-ulnar synostosis, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humero-radio-ulnar synostosis' + 'OBSOLETE: Humero-radio-ulnar synostosis, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Humero-radio-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_139018 Label(s): OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones - 'OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare bone development disorder' + 'OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare bone development disorder' Class: http://www.orpha.net/ORDO/Orphanet_139015 Label(s): OBSOLETE: Chondrodysplastic malformation syndrome - 'OBSOLETE: Chondrodysplastic malformation syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare bone development disorder' + 'OBSOLETE: Chondrodysplastic malformation syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare bone development disorder' Class: http://www.orpha.net/ORDO/Orphanet_306539 Label(s): OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary - 'OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary poikiloderma' + 'OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary poikiloderma' Class: http://www.orpha.net/ORDO/Orphanet_633035 Label(s): Intellectual disability-early-onset cataract-microcephaly syndrome - 'Intellectual disability-early-onset cataract-microcephaly syndrome' SubClassOf 'disease' + 'Intellectual disability-early-onset cataract-microcephaly syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' + 'Intellectual disability-early-onset cataract-microcephaly syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1251 Label(s): Blepharofacioskeletal syndrome - 'Blepharofacioskeletal syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Schilbach-Rott syndrome' + 'Blepharofacioskeletal syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Schilbach-Rott syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139006 Label(s): OBSOLETE: Sequence or association - 'OBSOLETE: Sequence or association' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare developmental defect during embryogenesis' + 'OBSOLETE: Sequence or association' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_236638 Label(s): Sp7 transcription factor + 'Sp7 transcription factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Craniodiaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1889 Label(s): Ectrodactyly-cleft palate syndrome - 'Ectrodactyly-cleft palate syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'EEC syndrome' + 'Ectrodactyly-cleft palate syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'EEC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1888 Label(s): Ectrodactyly-ectodermal dysplasia without clefting syndrome - 'Ectrodactyly-ectodermal dysplasia without clefting syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'EEC syndrome' + 'Ectrodactyly-ectodermal dysplasia without clefting syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'EEC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_189424 Label(s): OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia - 'OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'ACTH-independent Cushing syndrome' + 'OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_647758 Class: http://www.orpha.net/ORDO/Orphanet_189427 Label(s): Cushing syndrome due to macronodular adrenal hyperplasia - 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'part_of' some 'Cushing syndrome' + 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_647758 Class: http://www.orpha.net/ORDO/Orphanet_240266 Label(s): OBSOLETE: Systemic non-Langerhans cell histiocytosis - 'OBSOLETE: Systemic non-Langerhans cell histiocytosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-Langerhans cell histiocytosis' + 'OBSOLETE: Systemic non-Langerhans cell histiocytosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_1864 Label(s): OBSOLETE: Congenital valvular dysplasia - 'OBSOLETE: Congenital valvular dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'FLNA-related X-linked myxomatous valvular dysplasia' + 'OBSOLETE: Congenital valvular dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'FLNA-related X-linked myxomatous valvular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_79282 Label(s): Methylmalonic acidemia with homocystinuria, type cblC - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1850 Label(s): Renal dysplasia-megalocystis-sirenomelia syndrome - 'Renal dysplasia-megalocystis-sirenomelia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Familial caudal dysgenesis' + 'Renal dysplasia-megalocystis-sirenomelia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Familial caudal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_244375 Label(s): FAD dependent oxidoreductase domain containing 1 - 'FAD dependent oxidoreductase domain containing 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1849 Label(s): OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome - 'OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic renal or urinary tract malformation' + 'OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_1844 Label(s): OBSOLETE: Bone dysplasia, Azouz type - 'OBSOLETE: Bone dysplasia, Azouz type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with disorganized development of skeletal components' + 'OBSOLETE: Bone dysplasia, Azouz type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_46489 Label(s): OBSOLETE: Bullous systemic lupus erythematosus - 'OBSOLETE: Bullous systemic lupus erythematosus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cutaneous lupus erythematosus' + 'OBSOLETE: Bullous systemic lupus erythematosus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_2245 Label(s): OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome - 'OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' + 'OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1838 Label(s): Metaphyseal dysplasia without hypotrichosis - 'Metaphyseal dysplasia without hypotrichosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cartilage-hair hypoplasia' + 'Metaphyseal dysplasia without hypotrichosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cartilage-hair hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_291742 Label(s): NADH:ubiquinone oxidoreductase subunit A9 - 'NADH:ubiquinone oxidoreductase subunit A9' SubClassOf 'has_chromosomal location' value "12p13.3" - 'NADH:ubiquinone oxidoreductase subunit A9' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'NADH:ubiquinone oxidoreductase subunit A9' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_1306 Label(s): Buschke-Ollendorff syndrome - 'Buschke-Ollendorff syndrome' SubClassOf 'disorder' - 'Buschke-Ollendorff syndrome' SubClassOf 'malformation syndrome' - 'Buschke-Ollendorff syndrome' SubClassOf 'part_of' some 'Osteopetrosis and related disorders' - 'Buschke-Ollendorff syndrome' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' + 'Buschke-Ollendorff syndrome' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_1823 Label(s): OBSOLETE: Localized epiphyseal dysplasia - 'OBSOLETE: Localized epiphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia' + 'OBSOLETE: Localized epiphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_119140 Label(s): calcium voltage-gated channel subunit alpha1 C + 'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_413690 Label(s): OBSOLETE: Methotrexate toxicity or dose selection - 'OBSOLETE: Methotrexate toxicity or dose selection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Methotrexate dose selection' + 'OBSOLETE: Methotrexate toxicity or dose selection' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Methotrexate dose selection' Class: http://www.orpha.net/ORDO/Orphanet_3105 Label(s): Robinow-like syndrome - 'Robinow-like syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Peters plus syndrome' + 'Robinow-like syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Peters plus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_77304 Label(s): OBSOLETE: Not NOTCH3-related small vessel disease of the brain - 'OBSOLETE: Not NOTCH3-related small vessel disease of the brain' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HTRA1-related cerebral small vessel disease' + 'OBSOLETE: Not NOTCH3-related small vessel disease of the brain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HTRA1-related cerebral small vessel disease' Class: http://www.orpha.net/ORDO/Orphanet_1564 Label(s): Dandy-Walker malformation-facial hemangioma syndrome - 'Dandy-Walker malformation-facial hemangioma syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'PHACE syndrome' + 'Dandy-Walker malformation-facial hemangioma syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'PHACE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_244305 Label(s): Dominant hypophosphatemia with nephrolithiasis or osteoporosis - 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'part_of' some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_3112 Label(s): Patella aplasia-coxa vara-tarsal synostosis syndrome - 'Patella aplasia-coxa vara-tarsal synostosis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Coxopodopatellar syndrome' + 'Patella aplasia-coxa vara-tarsal synostosis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Coxopodopatellar syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1376 Label(s): OBSOLETE: Congenital cataract-ichthyosis syndrome - 'OBSOLETE: Congenital cataract-ichthyosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal ichthyosis syndrome with other associated signs' + 'OBSOLETE: Congenital cataract-ichthyosis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_519394 Label(s): OBSOLETE: Isolated microphakia - 'OBSOLETE: Isolated microphakia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated microspherophakia' + 'OBSOLETE: Isolated microphakia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Isolated microspherophakia' Class: http://www.orpha.net/ORDO/Orphanet_98299 Label(s): OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly - 'OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ichthyosis' + 'OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_98298 Label(s): OBSOLETE: Ichthyosis associated with a peroxisomal disease - 'OBSOLETE: Ichthyosis associated with a peroxisomal disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ichthyosis' + 'OBSOLETE: Ichthyosis associated with a peroxisomal disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_98297 Label(s): OBSOLETE: Ichthyosis associated with a protein catabolism anomaly - 'OBSOLETE: Ichthyosis associated with a protein catabolism anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ichthyosis' + 'OBSOLETE: Ichthyosis associated with a protein catabolism anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_98296 Label(s): OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly - 'OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ichthyosis' + 'OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_210115 Label(s): Sterile multifocal osteomyelitis with periostitis and pustulosis + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_98603 Label(s): OBSOLETE: Secretory apparatus of the lacrimal system anomaly - 'OBSOLETE: Secretory apparatus of the lacrimal system anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the lacrimal apparatus' + 'OBSOLETE: Secretory apparatus of the lacrimal system anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder of the lacrimal apparatus' Class: http://www.orpha.net/ORDO/Orphanet_98253 Label(s): OBSOLETE: Postinfectious encephalitis + 'OBSOLETE: Postinfectious encephalitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_295205 Label(s): OBSOLETE: Humero-radio-ulnar synostosis, unilateral - 'OBSOLETE: Humero-radio-ulnar synostosis, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humero-radio-ulnar synostosis' + 'OBSOLETE: Humero-radio-ulnar synostosis, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Humero-radio-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_2051 Label(s): Fraser-like syndrome - 'Fraser-like syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Fraser syndrome' + 'Fraser-like syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Fraser syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2054 Label(s): OBSOLETE: Osteochondritis of tarsal/metatarsal bone - 'OBSOLETE: Osteochondritis of tarsal/metatarsal bone' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Osteochondrosis' + 'OBSOLETE: Osteochondritis of tarsal/metatarsal bone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_2055 Label(s): Growth deficiency-brachydactyly-dysmorphism syndrome - 'Growth deficiency-brachydactyly-dysmorphism syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '14q22q23 microdeletion syndrome' + 'Growth deficiency-brachydactyly-dysmorphism syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some '14q22q23 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98637 Label(s): OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly - 'OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Secondary early-onset glaucoma of genetic origin' + 'OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Secondary early-onset glaucoma of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_286549 Label(s): calcium voltage-gated channel subunit alpha1 H + 'calcium voltage-gated channel subunit alpha1 H' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_642671 Class: http://www.orpha.net/ORDO/Orphanet_228429 Label(s): Generalized congenital lipodystrophy with myopathy - 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Congenital generalized lipodystrophy' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Congenital generalized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98662 Label(s): OBSOLETE: Unclassified familial retinal dystrophy - 'OBSOLETE: Unclassified familial retinal dystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited retinal disorder' + 'OBSOLETE: Unclassified familial retinal dystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98204 Label(s): OBSOLETE: Heredodegenerative disease with dystonia as a major feature - 'OBSOLETE: Heredodegenerative disease with dystonia as a major feature' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare movement disorder' + 'OBSOLETE: Heredodegenerative disease with dystonia as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_232194 Label(s): alanyl-tRNA synthetase 1 + 'alanyl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98677 Label(s): OBSOLETE: Autosomal recessive syndromic optic atrophy - 'OBSOLETE: Autosomal recessive syndromic optic atrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic hereditary optic neuropathy' + 'OBSOLETE: Autosomal recessive syndromic optic atrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_158799 Label(s): OBSOLETE: Aleukemic mast cell leukemia - 'OBSOLETE: Aleukemic mast cell leukemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mast cell leukemia' + 'OBSOLETE: Aleukemic mast cell leukemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Mast cell leukemia' Class: http://www.orpha.net/ORDO/Orphanet_158796 Label(s): OBSOLETE: Classic mast cell leukemia - 'OBSOLETE: Classic mast cell leukemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mast cell leukemia' + 'OBSOLETE: Classic mast cell leukemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Mast cell leukemia' Class: http://www.orpha.net/ORDO/Orphanet_158793 Label(s): OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia - 'OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Aggressive systemic mastocytosis' + 'OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Aggressive systemic mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_283988 Label(s): VANGL planar cell polarity protein 2 - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Total spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Total spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'VANGL planar cell polarity protein 2' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_2081 Label(s): Cerebral gigantism-jaw cysts syndrome - 'Cerebral gigantism-jaw cysts syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Gorlin syndrome' + 'Cerebral gigantism-jaw cysts syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Gorlin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98691 Label(s): OBSOLETE: Abnormal eye movements - 'OBSOLETE: Abnormal eye movements' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuro-ophthalmological disease' + 'OBSOLETE: Abnormal eye movements' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neuro-ophthalmological disease' Class: http://www.orpha.net/ORDO/Orphanet_98699 Label(s): OBSOLETE: Syndromic ichthyosis associated with ocular features - 'OBSOLETE: Syndromic ichthyosis associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited ichthyosis syndromic form' + 'OBSOLETE: Syndromic ichthyosis associated with ocular features' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Inherited ichthyosis syndromic form' Class: http://www.orpha.net/ORDO/Orphanet_2099 Label(s): OBSOLETE: Grix-Blankenship-Peterson syndrome - 'OBSOLETE: Grix-Blankenship-Peterson syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Grix-Blankenship-Peterson syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_238766 Label(s): Ptosis-syndactyly-learning difficulties syndrome - 'Ptosis-syndactyly-learning difficulties syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '8q21.11 microdeletion syndrome' + 'Ptosis-syndactyly-learning difficulties syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some '8q21.11 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_481481 Label(s): OBSOLETE: Gastric neuroendocrine tumor type 4 - 'OBSOLETE: Gastric neuroendocrine tumor type 4' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuroendocrine tumor of stomach' + 'OBSOLETE: Gastric neuroendocrine tumor type 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neuroendocrine tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_263355 Label(s): OBSOLETE: ATR-X-related syndrome - 'OBSOLETE: ATR-X-related syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' + 'OBSOLETE: ATR-X-related syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_481478 Label(s): OBSOLETE: Gastric neuroendocrine tumor type 3 - 'OBSOLETE: Gastric neuroendocrine tumor type 3' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuroendocrine tumor of stomach' + 'OBSOLETE: Gastric neuroendocrine tumor type 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neuroendocrine tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_238755 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1H - 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'disorder' + 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Progressive muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_276264 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group F - 'OBSOLETE: Xeroderma pigmentosum complementation group F' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' + 'OBSOLETE: Xeroderma pigmentosum complementation group F' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_1792 Label(s): Humerospinal dysostosis - 'Humerospinal dysostosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'CHST3-related skeletal dysplasia' + 'Humerospinal dysostosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'CHST3-related skeletal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_481469 Label(s): OBSOLETE: Gastric neuroendocrine tumor type 1 - 'OBSOLETE: Gastric neuroendocrine tumor type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuroendocrine tumor of stomach' + 'OBSOLETE: Gastric neuroendocrine tumor type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neuroendocrine tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_165994 Label(s): Pituitary resistance to thyroid hormone - 'Pituitary resistance to thyroid hormone' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' + 'Pituitary resistance to thyroid hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' Class: http://www.orpha.net/ORDO/Orphanet_276255 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group C - 'OBSOLETE: Xeroderma pigmentosum complementation group C' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' + 'OBSOLETE: Xeroderma pigmentosum complementation group C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_276252 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group B - 'OBSOLETE: Xeroderma pigmentosum complementation group B' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' + 'OBSOLETE: Xeroderma pigmentosum complementation group B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_1789 Label(s): OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome - 'OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295237 Label(s): OBSOLETE: Congenital patella dislocation, bilateral - 'OBSOLETE: Congenital patella dislocation, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital patella dislocation' + 'OBSOLETE: Congenital patella dislocation, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital patella dislocation' Class: http://www.orpha.net/ORDO/Orphanet_208994 Label(s): OBSOLETE: Other ganglionopathy related to autoimmune diseases - 'OBSOLETE: Other ganglionopathy related to autoimmune diseases' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-paraneoplastic sensory ganglionopathy' + 'OBSOLETE: Other ganglionopathy related to autoimmune diseases' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-paraneoplastic sensory ganglionopathy' Class: http://www.orpha.net/ORDO/Orphanet_122364 Label(s): hepcidin antimicrobial peptide + 'hepcidin antimicrobial peptide' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_648581 Class: http://www.orpha.net/ORDO/Orphanet_208981 Label(s): Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies - 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf 'part_of' some 'Chronic polyradiculoneuropathy' - 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf 'disease' - 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' - 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf 'disorder' + 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_331967 Label(s): caseinolytic mitochondrial matrix peptidase proteolytic subunit - 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642945 + 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642976 Class: http://www.orpha.net/ORDO/Orphanet_1501 Label(s): Adrenocortical carcinoma - 'Adrenocortical carcinoma' SubClassOf 'part_of' some 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' + 'Adrenocortical carcinoma' SubClassOf 'part_of' some 'Rare disease with Cushing syndrome as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_36414 Label(s): OBSOLETE: Brain stem tumor - 'OBSOLETE: Brain stem tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glioblastoma' + 'OBSOLETE: Brain stem tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Glioblastoma' Class: http://www.orpha.net/ORDO/Orphanet_302938 Label(s): CDP-L-ribitol pyrophosphorylase A + 'CDP-L-ribitol pyrophosphorylase A' SubClassOf 'disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' Class: http://www.orpha.net/ORDO/Orphanet_306507 Label(s): LAMB2-related infantile-onset nephrotic syndrome - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pierson syndrome' + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Pierson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119072 Label(s): BRCA2 DNA repair associated - 'BRCA2 DNA repair associated' SubClassOf 'major susceptibility factor in' some 'Hereditary site-specific ovarian cancer syndrome' + 'BRCA2 DNA repair associated' SubClassOf 'major susceptibility factor in' some 'Chordoma' Class: http://www.orpha.net/ORDO/Orphanet_166457 Label(s): OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis - 'OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Encephalitis' + 'OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_118010 Label(s): protein kinase cAMP-dependent type I regulatory subunit alpha - 'protein kinase cAMP-dependent type I regulatory subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' - 'protein kinase cAMP-dependent type I regulatory subunit alpha' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Acrodysostosis with multiple hormone resistance' Class: http://www.orpha.net/ORDO/Orphanet_1408 Label(s): Hair defect-photosensitivity-intellectual disability syndrome - 'Hair defect-photosensitivity-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' + 'Hair defect-photosensitivity-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_293848 Label(s): Frontotemporal dementia, right temporal atrophy variant - 'Frontotemporal dementia, right temporal atrophy variant' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Frontotemporal dementia' + 'Frontotemporal dementia, right temporal atrophy variant' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_1417 Label(s): OBSOLETE: Platyspondylic lethal chondrodysplasia - 'OBSOLETE: Platyspondylic lethal chondrodysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spondylodysplastic dysplasia' + 'OBSOLETE: Platyspondylic lethal chondrodysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_293838 Label(s): Fatal infantile encephalopathy-pulmonary hypertension syndrome - 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Ataxia-telangiectasia variant' + 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Ataxia-telangiectasia variant' Class: http://www.orpha.net/ORDO/Orphanet_1428 Label(s): OBSOLETE: Familial chondromalacia patellae - 'OBSOLETE: Familial chondromalacia patellae' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Patellar dysostosis' + 'OBSOLETE: Familial chondromalacia patellae' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Patellar dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_448372 Label(s): OBSOLETE: X-linked acrogigantism due to Xq26 microduplication - 'OBSOLETE: X-linked acrogigantism due to Xq26 microduplication' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked acrogigantism' + 'OBSOLETE: X-linked acrogigantism due to Xq26 microduplication' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'X-linked acrogigantism' Class: http://www.orpha.net/ORDO/Orphanet_610 Label(s): Bethlem myopathy - 'Bethlem myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of collagen 6' - 'Bethlem myopathy' SubClassOf 'part_of' some 'Congenital muscular dystrophy' + 'Bethlem myopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_646098 Class: http://www.orpha.net/ORDO/Orphanet_328269 Label(s): OBSOLETE: Rare bone disease with limb reduction defect - 'OBSOLETE: Rare bone disease with limb reduction defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndrome with limb reduction defects' + 'OBSOLETE: Rare bone disease with limb reduction defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_168609 Label(s): Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Mitochondrial non-syndromic sensorineural deafness' + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Mitochondrial non-syndromic sensorineural deafness' Class: http://www.orpha.net/ORDO/Orphanet_99142 Label(s): Microcephaly-cutis verticis gyrata-lymphedema syndrome - 'Microcephaly-cutis verticis gyrata-lymphedema syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cohen syndrome' + 'Microcephaly-cutis verticis gyrata-lymphedema syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cohen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_448348 Label(s): OBSOLETE: X-linked acrogigantism due to a point mutation - 'OBSOLETE: X-linked acrogigantism due to a point mutation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked acrogigantism' + 'OBSOLETE: X-linked acrogigantism due to a point mutation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'X-linked acrogigantism' Class: http://www.orpha.net/ORDO/Orphanet_636 Label(s): Neurofibromatosis type 1 - 'Neurofibromatosis type 1' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' Class: http://www.orpha.net/ORDO/Orphanet_331972 Label(s): leucyl-tRNA synthetase 2, mitochondrial - 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642945 + 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642976 Class: http://www.orpha.net/ORDO/Orphanet_465986 Label(s): serpin family B member 8 + 'serpin family B member 8' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Peeling skin syndrome type A' Class: http://www.orpha.net/ORDO/Orphanet_600577 Label(s): G protein subunit beta 2 + 'G protein subunit beta 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial sick sinus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1499 Label(s): OBSOLETE: Cortada-Koussef-Matsumoto syndrome - 'OBSOLETE: Cortada-Koussef-Matsumoto syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Cortada-Koussef-Matsumoto syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2454 Label(s): OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome - 'OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial intestinal malrotation' + 'OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial intestinal malrotation' Class: http://www.orpha.net/ORDO/Orphanet_670 Label(s): PIBIDS syndrome - 'PIBIDS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' + 'PIBIDS syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_163988 Label(s): OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type - 'OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xq21 microdeletion syndrome' + 'OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Xq21 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119904 Label(s): SURF1 cytochrome c oxidase assembly factor - 'SURF1 cytochrome c oxidase assembly factor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Leigh syndrome with leukodystrophy' - 'SURF1 cytochrome c oxidase assembly factor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Leigh syndrome with cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_1317 Label(s): CAMFAK syndrome - 'CAMFAK syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'COFS syndrome' + 'CAMFAK syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'COFS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306597 Label(s): OBSOLETE: X-linked Opitz G/BBB syndrome - 'OBSOLETE: X-linked Opitz G/BBB syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Opitz GBBB syndrome' + 'OBSOLETE: X-linked Opitz G/BBB syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Opitz GBBB syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352298 Label(s): OBSOLETE: Genetic muscular channelopathy - 'OBSOLETE: Genetic muscular channelopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic neurological muscular channelopathy' + 'OBSOLETE: Genetic muscular channelopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic neurological muscular channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_178503 Label(s): Dursun syndrome - 'Dursun syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' + 'Dursun syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1557 Label(s): Cutis verticis gyrata-intellectual disability syndrome - 'Cutis verticis gyrata-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Primary non-essential cutis verticis gyrata' + 'Cutis verticis gyrata-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Primary non-essential cutis verticis gyrata' Class: http://www.orpha.net/ORDO/Orphanet_306574 Label(s): OBSOLETE: Methotrexate dose selection - 'OBSOLETE: Methotrexate dose selection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Methotrexate dose selection' + 'OBSOLETE: Methotrexate dose selection' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Methotrexate dose selection' Class: http://www.orpha.net/ORDO/Orphanet_443304 Label(s): OBSOLETE: HIV-related oropharyngeal cancer - 'OBSOLETE: HIV-related oropharyngeal cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' + 'OBSOLETE: HIV-related oropharyngeal cancer' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_306561 Label(s): OBSOLETE: Autosomal dominant childhood-onset cortical cataract - 'OBSOLETE: Autosomal dominant childhood-onset cortical cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset partial cataract' + 'OBSOLETE: Autosomal dominant childhood-onset cortical cataract' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Early-onset partial cataract' Class: http://www.orpha.net/ORDO/Orphanet_98123 Label(s): OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect - 'OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Juvenile myoclonic epilepsy' + 'OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Juvenile myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_98122 Label(s): OBSOLETE: Channelopathy due to a neuronal glycine receptor defect - 'OBSOLETE: Channelopathy due to a neuronal glycine receptor defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary hyperekplexia' + 'OBSOLETE: Channelopathy due to a neuronal glycine receptor defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary hyperekplexia' Class: http://www.orpha.net/ORDO/Orphanet_98120 Label(s): OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly - 'OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Bartter syndrome type 4' + 'OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Bartter syndrome type 4' Class: http://www.orpha.net/ORDO/Orphanet_77292 Label(s): Infantile neurovisceral acid sphingomyelinase deficiency + 'Infantile neurovisceral acid sphingomyelinase deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_872 Label(s): OBSOLETE: Disorder in the hormonal synthesis with or without goiter - 'OBSOLETE: Disorder in the hormonal synthesis with or without goiter' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare thyroid disease' + 'OBSOLETE: Disorder in the hormonal synthesis with or without goiter' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare thyroid disease' Class: http://www.orpha.net/ORDO/Orphanet_98119 Label(s): OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly - 'OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Bartter syndrome' + 'OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98117 Label(s): OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly - 'OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dent disease type 1' + 'OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dent disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_98114 Label(s): OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly - 'OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Best vitelliform macular dystrophy' + 'OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Best vitelliform macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_477697 Label(s): OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome - 'OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial platelet disorder with associated myeloid malignancy' + 'OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial platelet disorder with associated myeloid malignancy' Class: http://www.orpha.net/ORDO/Orphanet_254712 Label(s): Familial sinus histiocytosis with massive lymphadenopathy - 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'H syndrome' + 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'H syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306522 Label(s): OBSOLETE: Genetic primary hypomagnesemia with normocalciuria - 'OBSOLETE: Genetic primary hypomagnesemia with normocalciuria' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare renal tubular disease' + 'OBSOLETE: Genetic primary hypomagnesemia with normocalciuria' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_1577 Label(s): OBSOLETE: Infantile thalamic degeneration - 'OBSOLETE: Infantile thalamic degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Symmetrical thalamic calcifications' + 'OBSOLETE: Infantile thalamic degeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Symmetrical thalamic calcifications' Class: http://www.orpha.net/ORDO/Orphanet_2474 Label(s): OBSOLETE: McLain-Dekaban syndrome - 'OBSOLETE: McLain-Dekaban syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: McLain-Dekaban syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_499004 Label(s): Tuberculous meningitis - 'Tuberculous meningitis' SubClassOf 'disease' - 'Tuberculous meningitis' SubClassOf 'disorder' - 'Tuberculous meningitis' SubClassOf 'part_of' some 'Infectious disease of the nervous system' - 'Tuberculous meningitis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Tuberculous meningitis' SubClassOf 'obsolete disorder' + 'Tuberculous meningitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_641396 Class: http://www.orpha.net/ORDO/Orphanet_306519 Label(s): OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria - 'OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare renal tubular disease' + 'OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_3336 Label(s): TomÚ-Brunet-Fardeau syndrome - 'TomÚ-Brunet-Fardeau syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'ATP13A2-related juvenile neuronal ceroid lipofuscinosis' + 'TomÚ-Brunet-Fardeau syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'ATP13A2-related juvenile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_139189 Label(s): partner and localizer of BRCA2 + 'partner and localizer of BRCA2' SubClassOf 'major susceptibility factor in' some 'Chordoma' Class: http://www.orpha.net/ORDO/Orphanet_1136 Label(s): Arnold-Chiari malformation type II - 'Arnold-Chiari malformation type II' SubClassOf 'Morphological anomaly' - 'Arnold-Chiari malformation type II' SubClassOf 'part_of' some 'Spina bifida cystica' - 'Arnold-Chiari malformation type II' SubClassOf 'disorder' + 'Arnold-Chiari malformation type II' SubClassOf 'obsolete disorder' + 'Arnold-Chiari malformation type II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Myelomeningocele' Class: http://www.orpha.net/ORDO/Orphanet_158665 Label(s): OBSOLETE: Basal epidermolysis bullosa simplex - 'OBSOLETE: Basal epidermolysis bullosa simplex' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Epidermolysis bullosa simplex' + 'OBSOLETE: Basal epidermolysis bullosa simplex' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Epidermolysis bullosa simplex' Class: http://www.orpha.net/ORDO/Orphanet_447792 Label(s): OBSOLETE: Hemochromatosis type 5 - 'OBSOLETE: Hemochromatosis type 5' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hereditary hemochromatosis' + 'OBSOLETE: Hemochromatosis type 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare hereditary hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_251891 Label(s): OBSOLETE: Atypical teratoid/rhabdoid tumor - 'OBSOLETE: Atypical teratoid/rhabdoid tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical teratoid rhabdoid tumor' + 'OBSOLETE: Atypical teratoid/rhabdoid tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Atypical teratoid rhabdoid tumor' Class: http://www.orpha.net/ORDO/Orphanet_1683 Label(s): Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome - 'Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Lymphedema-distichiasis syndrome' + 'Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Lymphedema-distichiasis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3064 Label(s): OBSOLETE: X-linked intellectual disability, Wittner type - 'OBSOLETE: X-linked intellectual disability, Wittner type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: X-linked intellectual disability, Wittner type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_356158 Label(s): nanos C2HC-type zinc finger 1 - 'nanos C2HC-type zinc finger 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with teratozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_171860 Label(s): OBSOLETE:Intellectual disability-cataracts-kyphosis syndrome - 'OBSOLETE:Intellectual disability-cataracts-kyphosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'SRD5A3-CDG' + 'OBSOLETE:Intellectual disability-cataracts-kyphosis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'SRD5A3-CDG' Class: http://www.orpha.net/ORDO/Orphanet_1678 Label(s): Dincsoy-Salih-Patel syndrome - 'Dincsoy-Salih-Patel syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' + 'Dincsoy-Salih-Patel syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_1674 Label(s): Digitorenocerebral syndrome - 'Digitorenocerebral syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'DOORS syndrome' + 'Digitorenocerebral syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'DOORS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1671 Label(s): Split cord malformation type I - 'Split cord malformation type I' SubClassOf 'subtype of a disorder' + 'Split cord malformation type I' SubClassOf 'disorder' + 'Split cord malformation type I' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_168598 Label(s): Brain demyelination due to methionine adenosyltransferase deficiency + 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1664 Label(s): OBSOLETE: Embryonary disorganization syndrome - 'OBSOLETE: Embryonary disorganization syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'OBSOLETE: Embryonary disorganization syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_398069 Label(s): MAGEL2-related Prader-Willi-like syndrome + 'MAGEL2-related Prader-Willi-like syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_120043 Label(s): transferrin receptor 2 + 'transferrin receptor 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_648581 Class: http://www.orpha.net/ORDO/Orphanet_77 Label(s): OBSOLETE: Aniridia - 'OBSOLETE: Aniridia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anterior segment developmental anomaly' + 'OBSOLETE: Aniridia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Anterior segment developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_72 Label(s): Angelman syndrome + 'Angelman syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_1654 Label(s): OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome - 'OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuronal intestinal pseudoobstruction' + 'OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neuronal intestinal pseudoobstruction' Class: http://www.orpha.net/ORDO/Orphanet_1651 Label(s): OBSOLETE: Dennis-Cohen syndrome - 'OBSOLETE: Dennis-Cohen syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Dennis-Cohen syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98587 Label(s): OBSOLETE: Palpebral lentiginosis - 'OBSOLETE: Palpebral lentiginosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Palpebral lentiginosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_171836 Label(s): Amelogenesis imperfecta-gingival hyperplasia syndrome - 'Amelogenesis imperfecta-gingival hyperplasia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Enamel-renal syndrome' + 'Amelogenesis imperfecta-gingival hyperplasia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Enamel-renal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93688 Label(s): OBSOLETE: Non-idiopathic juvenile arthritis - 'OBSOLETE: Non-idiopathic juvenile arthritis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Reactive arthritis' + 'OBSOLETE: Non-idiopathic juvenile arthritis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Reactive arthritis' Class: http://www.orpha.net/ORDO/Orphanet_206659 Label(s): OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly - 'OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Qualitative or quantitative defects of collagen 6' + 'OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Qualitative or quantitative defects of collagen 6' Class: http://www.orpha.net/ORDO/Orphanet_168566 Label(s): Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 + 'Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_34 Label(s): Pipecolic acidemia - 'Pipecolic acidemia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Peroxisome biogenesis disorder' + 'Pipecolic acidemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Peroxisome biogenesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_32 Label(s): Glutathione synthetase deficiency + 'Glutathione synthetase deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1611 Label(s): OBSOLETE: Deletion 20p - 'OBSOLETE: Deletion 20p' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Partial monosomy of the short arm of chromosome 20' + 'OBSOLETE: Deletion 20p' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Partial monosomy of the short arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_27 Label(s): Vitamin B12-unresponsive methylmalonic acidemia + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1526 Label(s): OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome - 'OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_210566 Label(s): Myoclonic dystonia 15 - 'Myoclonic dystonia 15' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Myoclonus-dystonia syndrome' + 'Myoclonic dystonia 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Myoclonus-dystonia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_391479 Label(s): OBSOLETE: Syndromic frontonasal dysplasia - 'OBSOLETE: Syndromic frontonasal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Frontonasal dysplasia' + 'OBSOLETE: Syndromic frontonasal dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_206606 Label(s): OBSOLETE: Other muscle weakness and/or chronic muscle pain - 'OBSOLETE: Other muscle weakness and/or chronic muscle pain' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Qualitative or quantitative defects of dystrophin' + 'OBSOLETE: Other muscle weakness and/or chronic muscle pain' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Qualitative or quantitative defects of dystrophin' Class: http://www.orpha.net/ORDO/Orphanet_404135 Label(s): protein kinase cAMP-activated catalytic subunit alpha - 'protein kinase cAMP-activated catalytic subunit alpha' SubClassOf 'disease-causing somatic mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' Class: http://www.orpha.net/ORDO/Orphanet_719 Label(s): OBSOLETE: Pili canulati - 'OBSOLETE: Pili canulati' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Uncombable hair syndrome' + 'OBSOLETE: Pili canulati' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Uncombable hair syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93611 Label(s): Autosomal recessive distal renal tubular acidosis with deafness - 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive distal renal tubular acidosis' + 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal recessive distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_833 Label(s): Encephalopathy due to sulfite oxidase deficiency + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93609 Label(s): Autosomal recessive distal renal tubular acidosis without deafness - 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive distal renal tubular acidosis' + 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal recessive distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_102373 Label(s): OBSOLETE: Primary glomerular disease - 'OBSOLETE: Primary glomerular disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glomerular disease' + 'OBSOLETE: Primary glomerular disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_108987 Label(s): OBSOLETE: Syndromic developmental defect of the eye - 'OBSOLETE: Syndromic developmental defect of the eye' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Structural developmental eye defect' + 'OBSOLETE: Syndromic developmental defect of the eye' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Structural developmental eye defect' Class: http://www.orpha.net/ORDO/Orphanet_108985 Label(s): OBSOLETE: Non-syndromic developmental defect of the eye - 'OBSOLETE: Non-syndromic developmental defect of the eye' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Structural developmental eye defect' + 'OBSOLETE: Non-syndromic developmental defect of the eye' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Structural developmental eye defect' Class: http://www.orpha.net/ORDO/Orphanet_773 Label(s): Refsum disease + 'Refsum disease' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98073 Label(s): OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia - 'OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant cerebellar ataxia' + 'OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal dominant cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_286575 Label(s): cytochrome P450 family 4 subfamily F member 2 - 'cytochrome P450 family 4 subfamily F member 2' SubClassOf 'has_chromosomal location' value "19p13.12" - 'cytochrome P450 family 4 subfamily F member 2' SubClassOf 'gene with protein product' - 'cytochrome P450 family 4 subfamily F member 2' SubClassOf 'biomarker tested in' some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_98071 Label(s): OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation - 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant cerebellar ataxia' + 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal dominant cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_98070 Label(s): OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine - 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant cerebellar ataxia' + 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal dominant cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_240957 Label(s): OBSOLETE: Susceptibility to adverse reaction due to amitriptyline treatment - 'OBSOLETE: Susceptibility to adverse reaction due to amitriptyline treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to amitriptyline treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_98068 Label(s): OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly - 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant cerebellar ataxia' + 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal dominant cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_98812 Label(s): Paroxysmal hypnogenic dyskinesia - 'Paroxysmal hypnogenic dyskinesia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'Paroxysmal hypnogenic dyskinesia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal dominant nocturnal frontal lobe epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_168448 Label(s): Spondyloepimetaphyseal dysplasia, Bieganski type - 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome' + 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306762 Label(s): OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature - 'OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Progressive myoclonic epilepsy' + 'OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_306486 Label(s): OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance - 'OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital sucrase-isomaltase deficiency' + 'OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_268397 Label(s): Cervicothoracic spina bifida aperta - 'Cervicothoracic spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Cervicothoracic spina bifida aperta' SubClassOf 'subtype of a disorder' + 'Cervicothoracic spina bifida aperta' SubClassOf 'obsolete subtype of disorder' + 'Cervicothoracic spina bifida aperta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_268392 Label(s): Cervical spina bifida aperta - 'Cervical spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Cervical spina bifida aperta' SubClassOf 'subtype of a disorder' + 'Cervical spina bifida aperta' SubClassOf 'obsolete subtype of disorder' + 'Cervical spina bifida aperta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_266184 Label(s): lysyl-tRNA synthetase 1 + 'lysyl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Central nervous system calcification-deafness-tubular acidosis-anemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98836 Label(s): Bilineal acute leukemia - 'Bilineal acute leukemia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Mixed phenotype acute leukemia' + 'Bilineal acute leukemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Mixed phenotype acute leukemia' Class: http://www.orpha.net/ORDO/Orphanet_268388 Label(s): Lumbosacral spina bifida aperta - 'Lumbosacral spina bifida aperta' SubClassOf 'subtype of a disorder' - 'Lumbosacral spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' + 'Lumbosacral spina bifida aperta' SubClassOf 'obsolete subtype of disorder' + 'Lumbosacral spina bifida aperta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_268384 Label(s): Thoracolumbosacral spina bifida aperta - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'subtype of a disorder' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'obsolete subtype of disorder' + 'Thoracolumbosacral spina bifida aperta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_583333 Label(s): angiopoietin 2 + 'angiopoietin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Milroy disease' Class: http://www.orpha.net/ORDO/Orphanet_306462 Label(s): OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance - 'OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital sucrase-isomaltase deficiency' + 'OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_268377 Label(s): Total spina bifida aperta - 'Total spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Total spina bifida aperta' SubClassOf 'subtype of a disorder' + 'Total spina bifida aperta' SubClassOf 'obsolete subtype of disorder' + 'Total spina bifida aperta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_623615 Label(s): Autoimmune limbic encephalitis + 'Autoimmune limbic encephalitis' SubClassOf 'part_of' some 'Paraneoplastic neurologic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3267 Label(s): OBSOLETE: Familial lambdoid synostosis - 'OBSOLETE: Familial lambdoid synostosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic craniosynostosis' + 'OBSOLETE: Familial lambdoid synostosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_327379 Label(s): required for meiotic nuclear division 1 homolog + 'required for meiotic nuclear division 1 homolog' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642945 + 'required for meiotic nuclear division 1 homolog' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642976 Class: http://www.orpha.net/ORDO/Orphanet_98867 Label(s): Hereditary pyropoikilocytosis - 'Hereditary pyropoikilocytosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hereditary elliptocytosis' + 'Hereditary pyropoikilocytosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_304234 Label(s): RAD21 cohesin complex component + 'RAD21 cohesin complex component' SubClassOf 'role in the phenotype of' some 'Trichorhinophalangeal syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_306436 Label(s): OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance - 'OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital sucrase-isomaltase deficiency' + 'OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_158588 Label(s): HNF1 homeobox B + 'HNF1 homeobox B' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_98894 Label(s): Congenital muscular dystrophy type 1D - 'Congenital muscular dystrophy type 1D' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy type 1D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_2174 Label(s): Hunter-Carpenter-McDonald syndrome - 'Hunter-Carpenter-McDonald syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Infantile neuroaxonal dystrophy' + 'Hunter-Carpenter-McDonald syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Infantile neuroaxonal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_397922 Label(s): Ferro-cerebro-cutaneous syndrome + 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_35061 Label(s): OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes - 'OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare viral disease' + 'OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_35064 Label(s): OBSOLETE: Lethal idiopathic viral infection - 'OBSOLETE: Lethal idiopathic viral infection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare viral disease' + 'OBSOLETE: Lethal idiopathic viral infection' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_35065 Label(s): OBSOLETE: Idiopathic severe pneumococcemia - 'OBSOLETE: Idiopathic severe pneumococcemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare bacterial infectious disease' + 'OBSOLETE: Idiopathic severe pneumococcemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_308604 Label(s): OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset - 'OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glycogen storage disease due to acid maltase deficiency, late-onset' + 'OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Glycogen storage disease due to acid maltase deficiency, late-onset' Class: http://www.orpha.net/ORDO/Orphanet_525404 Label(s): microtubule associated protein 1B + 'microtubule associated protein 1B' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_2060 Label(s): Fukuda-Miyanomae-Nakata syndrome - 'Fukuda-Miyanomae-Nakata syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Craniosynostosis-anal anomalies-porokeratosis syndrome' + 'Fukuda-Miyanomae-Nakata syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Craniosynostosis-anal anomalies-porokeratosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_83648 Label(s): OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome - 'OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' + 'OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_401825 Label(s): Autosomal recessive spastic paraplegia type 68 - 'Autosomal recessive spastic paraplegia type 68' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Spastic paraplegia-optic atrophy-neuropathy syndrome' + 'Autosomal recessive spastic paraplegia type 68' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Spastic paraplegia-optic atrophy-neuropathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_470722 Label(s): myelin transcription factor 1 like - 'myelin transcription factor 1 like' SubClassOf 'candidate gene tested in' some 'Autosomal dominant non-syndromic intellectual disability' - 'myelin transcription factor 1 like' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'myelin transcription factor 1 like' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_647799 Class: http://www.orpha.net/ORDO/Orphanet_1575 Label(s): OBSOLETE: Infantile striatothalamic degeneration - 'OBSOLETE: Infantile striatothalamic degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial infantile bilateral striatal necrosis' + 'OBSOLETE: Infantile striatothalamic degeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial infantile bilateral striatal necrosis' Class: http://www.orpha.net/ORDO/Orphanet_1571 Label(s): Knobloch syndrome + 'Knobloch syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1569 Label(s): De Sanctis-Cacchione syndrome - 'De Sanctis-Cacchione syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Xeroderma pigmentosum' + 'De Sanctis-Cacchione syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_1561 Label(s): Fatal infantile cytochrome C oxidase deficiency + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_83618 Label(s): Severe dilated cardiomyopathy due to lamin A/C mutation - 'Severe dilated cardiomyopathy due to lamin A/C mutation' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' + 'Severe dilated cardiomyopathy due to lamin A/C mutation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' Class: http://www.orpha.net/ORDO/Orphanet_491197 Label(s): Era like 12S mitochondrial rRNA chaperone 1 - 'Era like 12S mitochondrial rRNA chaperone 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'Era like 12S mitochondrial rRNA chaperone 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642945 + 'Era like 12S mitochondrial rRNA chaperone 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642976 Class: http://www.orpha.net/ORDO/Orphanet_93579 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly - 'OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' + 'OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_93576 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly - 'OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' + 'OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_93575 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly - 'OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' + 'OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_1534 Label(s): OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type - 'OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic craniosynostosis' + 'OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_1533 Label(s): OBSOLETE: Craniosynostosis-fibular aplasia syndrome - 'OBSOLETE: Craniosynostosis-fibular aplasia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic craniosynostosis' + 'OBSOLETE: Craniosynostosis-fibular aplasia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_124200 Label(s): peroxisomal biogenesis factor 16 + 'peroxisomal biogenesis factor 16' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642954 Class: http://www.orpha.net/ORDO/Orphanet_435808 Label(s): OBSOLETE: ACAN-related skeletal dysplasia - 'OBSOLETE: ACAN-related skeletal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Aggrecan-related bone disorder' + 'OBSOLETE: ACAN-related skeletal dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Aggrecan-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_93567 Label(s): OBSOLETE: Pediatric systemic sclerosis - 'OBSOLETE: Pediatric systemic sclerosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Systemic sclerosis' + 'OBSOLETE: Pediatric systemic sclerosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_93564 Label(s): OBSOLETE: Pediatric polyarteritis nodosa - 'OBSOLETE: Pediatric polyarteritis nodosa' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polyarteritis nodosa' + 'OBSOLETE: Pediatric polyarteritis nodosa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Polyarteritis nodosa' Class: http://www.orpha.net/ORDO/Orphanet_93559 Label(s): C3 deposition glomerulonephritis without proliferation - 'C3 deposition glomerulonephritis without proliferation' SubClassOf http://www.orpha.net/ORDO/moved_to some 'C3 glomerulonephritis' + 'C3 deposition glomerulonephritis without proliferation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'C3 glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_93551 Label(s): OBSOLETE: Secondary glomerular disease - 'OBSOLETE: Secondary glomerular disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glomerular disease' + 'OBSOLETE: Secondary glomerular disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_93550 Label(s): OBSOLETE: Basement membrane disease - 'OBSOLETE: Basement membrane disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Collagen-related glomerular basement membrane disease' + 'OBSOLETE: Basement membrane disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Collagen-related glomerular basement membrane disease' Class: http://www.orpha.net/ORDO/Orphanet_98124 Label(s): OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect - 'OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital myasthenic syndrome' + 'OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98125 Label(s): OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect - 'OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal dominant nocturnal frontal lobe epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_371439 Label(s): OBSOLETE: Genetic cerebrovascular dementia - 'OBSOLETE: Genetic cerebrovascular dementia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cerebrovascular dementia' + 'OBSOLETE: Genetic cerebrovascular dementia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare cerebrovascular dementia' Class: http://www.orpha.net/ORDO/Orphanet_98338 Label(s): OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug - 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_247839 Label(s): OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies - 'OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Oligoarticular juvenile idiopathic arthritis' + 'OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Oligoarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_493348 Label(s): Vibratory angioedema - 'Vibratory angioedema' SubClassOf 'disease' - 'Vibratory angioedema' SubClassOf 'part_of' some 'Genetic urticaria' - 'Vibratory angioedema' SubClassOf 'part_of' some 'Rare urticaria' - 'Vibratory angioedema' SubClassOf 'disorder' + 'Vibratory angioedema' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Vibratory urticaria' + 'Vibratory angioedema' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_95721 Label(s): OBSOLETE: Thyroid pyramidal lobe - 'OBSOLETE: Thyroid pyramidal lobe' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital thyroid malformation without hypothyroidism' + 'OBSOLETE: Thyroid pyramidal lobe' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital thyroid malformation without hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_97927 Label(s): OBSOLETE: Peripheral resistance to thyroid hormones - 'OBSOLETE: Peripheral resistance to thyroid hormones' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha' + 'OBSOLETE: Peripheral resistance to thyroid hormones' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha' Class: http://www.orpha.net/ORDO/Orphanet_2419 Label(s): Lymphedema-ptosis syndrome - 'Lymphedema-ptosis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Lymphedema-distichiasis syndrome' + 'Lymphedema-ptosis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Lymphedema-distichiasis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206616 Label(s): OBSOLETE: Acquired metabolic neuropathy - 'OBSOLETE: Acquired metabolic neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired peripheral neuropathy' + 'OBSOLETE: Acquired metabolic neuropathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_216452 Label(s): Postlingual non-syndromic genetic deafness - 'Postlingual non-syndromic genetic deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Non-syndromic genetic deafness' + 'Postlingual non-syndromic genetic deafness' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_95701 Label(s): OBSOLETE: Congenital adrenal hypoplasia of maternal cause - 'OBSOLETE: Congenital adrenal hypoplasia of maternal cause' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired chronic primary adrenal insufficiency' + 'OBSOLETE: Congenital adrenal hypoplasia of maternal cause' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acquired chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_216445 Label(s): Prelingual non-syndromic genetic deafness - 'Prelingual non-syndromic genetic deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Non-syndromic genetic deafness' + 'Prelingual non-syndromic genetic deafness' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_100072 Label(s): OBSOLETE: True vascular thoracic outlet syndrome - 'OBSOLETE: True vascular thoracic outlet syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Thoracic outlet syndrome' + 'OBSOLETE: True vascular thoracic outlet syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Thoracic outlet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123723 Label(s): NADH:ubiquinone oxidoreductase complex assembly factor 2 - 'NADH:ubiquinone oxidoreductase complex assembly factor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_100041 Label(s): OBSOLETE: Familial pseudohyperkalemia, Cardiff type - 'OBSOLETE: Familial pseudohyperkalemia, Cardiff type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial pseudohyperkalemia' + 'OBSOLETE: Familial pseudohyperkalemia, Cardiff type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial pseudohyperkalemia' Class: http://www.orpha.net/ORDO/Orphanet_100040 Label(s): OBSOLETE: Familial pseudohyperkalemia type 2 - 'OBSOLETE: Familial pseudohyperkalemia type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial pseudohyperkalemia' + 'OBSOLETE: Familial pseudohyperkalemia type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial pseudohyperkalemia' Class: http://www.orpha.net/ORDO/Orphanet_123745 Label(s): NADH:ubiquinone oxidoreductase core subunit V1 - 'NADH:ubiquinone oxidoreductase core subunit V1' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_100039 Label(s): Familial pseudohyperkalemia type 1 - 'Familial pseudohyperkalemia type 1' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Dehydrated hereditary stomatocytosis' + 'Familial pseudohyperkalemia type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Dehydrated hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_79407 Label(s): Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type - 'Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant generalized dystrophic epidermolysis bullosa' + 'Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal dominant generalized dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_103916 Label(s): OBSOLETE: Autoimmune enteropathy type 2 - 'OBSOLETE: Autoimmune enteropathy type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic autoimmune enteropathy' + 'OBSOLETE: Autoimmune enteropathy type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic autoimmune enteropathy' Class: http://www.orpha.net/ORDO/Orphanet_58220 Label(s): OBSOLETE: Microscopic colitis - 'OBSOLETE: Microscopic colitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inflammatory bowel disease' + 'OBSOLETE: Microscopic colitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_308573 Label(s): OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset - 'OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glycogen storage disease due to acid maltase deficiency, late-onset' + 'OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Glycogen storage disease due to acid maltase deficiency, late-onset' Class: http://www.orpha.net/ORDO/Orphanet_117820 Label(s): phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'disease-causing somatic mutation(s) in' some 'Familial cerebral cavernous malformation' Class: http://www.orpha.net/ORDO/Orphanet_101949 Label(s): OBSOLETE: Rare acquired eye disease - 'OBSOLETE: Rare acquired eye disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare ophthalmic disorder' + 'OBSOLETE: Rare acquired eye disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare ophthalmic disorder' Class: http://www.orpha.net/ORDO/Orphanet_163982 Label(s): X-linked intellectual disability-spastic quadriparesis syndrome - 'X-linked intellectual disability-spastic quadriparesis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Allan-Herndon-Dudley syndrome' + 'X-linked intellectual disability-spastic quadriparesis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Allan-Herndon-Dudley syndrome' Class: http://www.orpha.net/ORDO/Orphanet_28455 Label(s): OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus - 'OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare genetic diabetes mellitus' + 'OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_75840 Label(s): Congenital muscular dystrophy, Ullrich type - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'part_of' some 'Qualitative or quantitative defects of collagen 6' + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_646098 Class: http://www.orpha.net/ORDO/Orphanet_35123 Label(s): OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency - 'OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' + 'OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_99134 Label(s): OBSOLETE: Intermediate stomatocytosis syndrome - 'OBSOLETE: Intermediate stomatocytosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary stomatocytosis' + 'OBSOLETE: Intermediate stomatocytosis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_281482 Label(s): ASXL transcriptional regulator 1 + 'ASXL transcriptional regulator 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Acute myeloid leukaemia with myelodysplasia-related features' Class: http://www.orpha.net/ORDO/Orphanet_226310 Label(s): OBSOLETE: Peripheral hypothyroidism - 'OBSOLETE: Peripheral hypothyroidism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Permanent congenital hypothyroidism' + 'OBSOLETE: Peripheral hypothyroidism' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Permanent congenital hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_98986 Label(s): OBSOLETE: Coppock-like cataract - 'OBSOLETE: Coppock-like cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pulverulent cataract' + 'OBSOLETE: Coppock-like cataract' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pulverulent cataract' Class: http://www.orpha.net/ORDO/Orphanet_163953 Label(s): X-linked intellectual disability, Raymond type - 'X-linked intellectual disability, Raymond type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Lujan-Fryns syndrome' + 'X-linked intellectual disability, Raymond type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Lujan-Fryns syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163914 Label(s): OBSOLETE: Limbic encephalitis with nCMAgs antibodies - 'OBSOLETE: Limbic encephalitis with nCMAgs antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Limbic encephalitis with nCMAgs antibodies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_163903 Label(s): OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens - 'OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_363629 Label(s): OBSOLETE: GMPPB-related congenital muscular dystrophy - 'OBSOLETE: GMPPB-related congenital muscular dystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'OBSOLETE: GMPPB-related congenital muscular dystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_241009 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to glibenclamide treatment - 'OBSOLETE: Susceptibility to hypoglycemia due to glibenclamide treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Susceptibility to hypoglycemia due to glibenclamide treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_1460 Label(s): Isolated complex III deficiency + 'Isolated complex III deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171640 Label(s): transcription factor 3 - 'transcription factor 3' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'transcription factor 3' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_641375 Class: http://www.orpha.net/ORDO/Orphanet_412220 Label(s): OBSOLETE: Ramsay Hunt syndrome type II - 'OBSOLETE: Ramsay Hunt syndrome type II' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ramsay Hunt syndrome' + 'OBSOLETE: Ramsay Hunt syndrome type II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Ramsay Hunt syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251633 Label(s): OBSOLETE: Low-grade ependymoma - 'OBSOLETE: Low-grade ependymoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ependymal tumor' + 'OBSOLETE: Low-grade ependymoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Ependymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_93472 Label(s): OBSOLETE: Dysmorphic syndrome associated with bone anomaly - 'OBSOLETE: Dysmorphic syndrome associated with bone anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome' + 'OBSOLETE: Dysmorphic syndrome associated with bone anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93471 Label(s): OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly - 'OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lysosomal storage disease with skeletal involvement' + 'OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_93470 Label(s): OBSOLETE: Dysharmonic micromelia - 'OBSOLETE: Dysharmonic micromelia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with micromelia' + 'OBSOLETE: Dysharmonic micromelia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia with micromelia' Class: http://www.orpha.net/ORDO/Orphanet_93469 Label(s): OBSOLETE: Harmonic micromelia - 'OBSOLETE: Harmonic micromelia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with micromelia' + 'OBSOLETE: Harmonic micromelia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia with micromelia' Class: http://www.orpha.net/ORDO/Orphanet_93466 Label(s): OBSOLETE: Limb-girdle bone anomaly - 'OBSOLETE: Limb-girdle bone anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with limb anomaly as a major feature' + 'OBSOLETE: Limb-girdle bone anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with limb anomaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1421 Label(s): OBSOLETE: Lethal chondrodysplasia, Seller type - 'OBSOLETE: Lethal chondrodysplasia, Seller type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lethal chondrodysplasia' + 'OBSOLETE: Lethal chondrodysplasia, Seller type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1420 Label(s): OBSOLETE: Lethal chondrodysplasia, Moerman type - 'OBSOLETE: Lethal chondrodysplasia, Moerman type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lethal chondrodysplasia' + 'OBSOLETE: Lethal chondrodysplasia, Moerman type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93456 Label(s): OBSOLETE: Brachydactyly group - 'OBSOLETE: Brachydactyly group' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly' + 'OBSOLETE: Brachydactyly group' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_93452 Label(s): OBSOLETE: Craniosynostosis syndrome or cranial ossification disease - 'OBSOLETE: Craniosynostosis syndrome or cranial ossification disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic craniosynostosis' + 'OBSOLETE: Craniosynostosis syndrome or cranial ossification disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_995 Label(s): X-linked fetal akinesia syndrome - 'X-linked fetal akinesia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Fetal akinesia deformation sequence' + 'X-linked fetal akinesia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Fetal akinesia deformation sequence' Class: http://www.orpha.net/ORDO/Orphanet_573278 Label(s): Split cord malformation - 'Split cord malformation' SubClassOf 'disorder' - 'Split cord malformation' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' - 'Split cord malformation' SubClassOf 'Morphological anomaly' + 'Split cord malformation' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' + 'Split cord malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_645202 + 'Split cord malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99022 Label(s): OBSOLETE: Niemann-Pick disease type E - 'OBSOLETE: Niemann-Pick disease type E' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Chronic visceral acid sphingomyelinase deficiency' + 'OBSOLETE: Niemann-Pick disease type E' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Chronic visceral acid sphingomyelinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_93435 Label(s): OBSOLETE: Moderate spondylodysplastic dysplasia - 'OBSOLETE: Moderate spondylodysplastic dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spondylodysplastic dysplasia' + 'OBSOLETE: Moderate spondylodysplastic dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_261572 Label(s): OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome - 'OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' + 'OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_909 Label(s): Cerebrotendinous xanthomatosis + 'Cerebrotendinous xanthomatosis' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_573253 Label(s): Split cord malformation type II - 'Split cord malformation type II' SubClassOf 'subtype of a disorder' + 'Split cord malformation type II' SubClassOf 'Morphological anomaly' + 'Split cord malformation type II' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_95625 Label(s): OBSOLETE: Posttraumatic diabetes insipidus - 'OBSOLETE: Posttraumatic diabetes insipidus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired central diabetes insipidus' + 'OBSOLETE: Posttraumatic diabetes insipidus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acquired central diabetes insipidus' Class: http://www.orpha.net/ORDO/Orphanet_95623 Label(s): OBSOLETE: Posttraumatic hypopituitarism - 'OBSOLETE: Posttraumatic hypopituitarism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Post-traumatic pituitary deficiency' + 'OBSOLETE: Posttraumatic hypopituitarism' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Post-traumatic pituitary deficiency' Class: http://www.orpha.net/ORDO/Orphanet_95622 Label(s): OBSOLETE: Radiation-induced hypopituitarism - 'OBSOLETE: Radiation-induced hypopituitarism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Radiation-induced disorder' + 'OBSOLETE: Radiation-induced hypopituitarism' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Radiation-induced disorder' Class: http://www.orpha.net/ORDO/Orphanet_95621 Label(s): OBSOLETE: Postsurgical hypopituitarism - 'OBSOLETE: Postsurgical hypopituitarism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Post-traumatic pituitary deficiency' + 'OBSOLETE: Postsurgical hypopituitarism' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Post-traumatic pituitary deficiency' Class: http://www.orpha.net/ORDO/Orphanet_423781 Label(s): OBSOLETE: Carcinoma of stomach, salivary gland type - 'OBSOLETE: Carcinoma of stomach, salivary gland type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Carcinoma of esophagus, salivary gland type' + 'OBSOLETE: Carcinoma of stomach, salivary gland type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Carcinoma of esophagus, salivary gland type' Class: http://www.orpha.net/ORDO/Orphanet_956 Label(s): Acropectororenal dysplasia - 'Acropectororenal dysplasia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Poland syndrome' + 'Acropectororenal dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Poland syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95615 Label(s): OBSOLETE: Pituitary deficiency secondary to an anevrysm - 'OBSOLETE: Pituitary deficiency secondary to an anevrysm' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pituitary hormone deficiency of vascular origin' + 'OBSOLETE: Pituitary deficiency secondary to an anevrysm' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pituitary hormone deficiency of vascular origin' Class: http://www.orpha.net/ORDO/Orphanet_95614 Label(s): OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage - 'OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pituitary hormone deficiency of meningeal origin' + 'OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pituitary hormone deficiency of meningeal origin' Class: http://www.orpha.net/ORDO/Orphanet_248305 Label(s): OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency - 'OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hemolytic anemia due to a disorder of glycolytic enzymes' Class: http://www.orpha.net/ORDO/Orphanet_138557 Label(s): VANGL planar cell polarity protein 1 - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Total spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'major susceptibility factor in' some 'Total spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_1115 Label(s): OBSOLETE: Recessive aplasia cutis congenita of limbs - 'OBSOLETE: Recessive aplasia cutis congenita of limbs' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Aplasia cutis congenita' + 'OBSOLETE: Recessive aplasia cutis congenita of limbs' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Aplasia cutis congenita' Class: http://www.orpha.net/ORDO/Orphanet_443310 Label(s): OBSOLETE: HIV-related hepatocellular carcinoma - 'OBSOLETE: HIV-related hepatocellular carcinoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' + 'OBSOLETE: HIV-related hepatocellular carcinoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_850 Label(s): May-Hegglin thrombocytopenia - 'May-Hegglin thrombocytopenia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MYH9-related disease' + 'May-Hegglin thrombocytopenia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'MYH9-related disease' Class: http://www.orpha.net/ORDO/Orphanet_446811 Label(s): phosphoglucomutase 3 + 'phosphoglucomutase 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_641368 Class: http://www.orpha.net/ORDO/Orphanet_946 Label(s): OBSOLETE: Acrocephalosyndactyly - 'OBSOLETE: Acrocephalosyndactyly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic craniosynostosis' + 'OBSOLETE: Acrocephalosyndactyly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_936 Label(s): Succinic acidemia - 'Succinic acidemia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Isolated complex I deficiency' + 'Succinic acidemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Isolated complex I deficiency' Class: http://www.orpha.net/ORDO/Orphanet_953 Label(s): OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type - 'OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acromesomelic dysplasia, Maroteaux type' + 'OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acromesomelic dysplasia, Maroteaux type' Class: http://www.orpha.net/ORDO/Orphanet_183716 Label(s): OBSOLETE: Other complex syndrome of primary immunodeficiency - 'OBSOLETE: Other complex syndrome of primary immunodeficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary immunodeficiency' + 'OBSOLETE: Other complex syndrome of primary immunodeficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_261512 Label(s): OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 - 'OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked intellectual disability-retinitis pigmentosa syndrome' + 'OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'X-linked intellectual disability-retinitis pigmentosa syndrome' Class: http://www.orpha.net/ORDO/Orphanet_965 Label(s): Acromegaloid facial appearance syndrome - 'Acromegaloid facial appearance syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cantú syndrome' + 'Acromegaloid facial appearance syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cantú syndrome' Class: http://www.orpha.net/ORDO/Orphanet_918 Label(s): ABCD syndrome - 'ABCD syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Waardenburg-Shah syndrome' + 'ABCD syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Waardenburg-Shah syndrome' Class: http://www.orpha.net/ORDO/Orphanet_300337 Label(s): OBSOLETE: Congenital blindness due to retinal non-attachment - 'OBSOLETE: Congenital blindness due to retinal non-attachment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Persistent hyperplastic primary vitreous' + 'OBSOLETE: Congenital blindness due to retinal non-attachment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Persistent hyperplastic primary vitreous' Class: http://www.orpha.net/ORDO/Orphanet_79260 Label(s): Glycogen storage disease type 1c - 'Glycogen storage disease type 1c' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib' + 'Glycogen storage disease type 1c' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib' Class: http://www.orpha.net/ORDO/Orphanet_79261 Label(s): Glycogen storage disease type 1d - 'Glycogen storage disease type 1d' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib' + 'Glycogen storage disease type 1d' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib' Class: http://www.orpha.net/ORDO/Orphanet_964 Label(s): Acromegaly-cutis verticis gyrata-corneal leukoma syndrome - 'Acromegaly-cutis verticis gyrata-corneal leukoma syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pachydermoperiostosis' + 'Acromegaly-cutis verticis gyrata-corneal leukoma syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Pachydermoperiostosis' Class: http://www.orpha.net/ORDO/Orphanet_966 Label(s): Hypertrichosis-acromegaloid facial appearance syndrome - 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cantú syndrome' + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cantú syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2243 Label(s): Hypopituitarism-micropenis-cleft lip/palate syndrome - 'Hypopituitarism-micropenis-cleft lip/palate syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' + 'Hypopituitarism-micropenis-cleft lip/palate syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_75790 Label(s): Pollitt syndrome - 'Pollitt syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' + 'Pollitt syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_75789 Label(s): SIBIDS syndrome - 'SIBIDS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' + 'SIBIDS syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_79284 Label(s): Methylmalonic acidemia with homocystinuria type cblF - 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_61 Label(s): Alpha-mannosidosis + 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86917 Label(s): OBSOLETE: Lymphedema-cleft palate syndrome - 'OBSOLETE: Lymphedema-cleft palate syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary lymphedema' + 'OBSOLETE: Lymphedema-cleft palate syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_163895 Label(s): OBSOLETE: Paraneoplastic limbic encephalitis - 'OBSOLETE: Paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_163892 Label(s): OBSOLETE: Limbic encephalitis - 'OBSOLETE: Limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_228407 Label(s): Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome - 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cerebrofaciothoracic dysplasia' + 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cerebrofaciothoracic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_264955 Label(s): OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood - 'OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' + 'OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_2292 Label(s): Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome - 'Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome' SubClassOf 'part_of' some 'Congenital deformities of limbs' - 'Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome' SubClassOf 'part_of' some 'Campomelic dysplasia and related disorders' - 'Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome' SubClassOf 'malformation syndrome' - 'Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome' SubClassOf 'disorder' + 'Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Campomelic dysplasia and related disorders' + 'Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_158029 Label(s): Sea-blue histiocytosis - 'Sea-blue histiocytosis' SubClassOf 'part_of' some 'Rare genetic disease' + 'Sea-blue histiocytosis' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' + 'Sea-blue histiocytosis' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_263558 Label(s): Peeling skin syndrome type C - 'Peeling skin syndrome type C' SubClassOf 'subtype of a disorder' - 'Peeling skin syndrome type C' SubClassOf 'part_of' some 'Generalized peeling skin syndrome' + 'Peeling skin syndrome type C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Generalized peeling skin syndrome' + 'Peeling skin syndrome type C' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_332108 Label(s): ETS2 repressor factor + 'ETS2 repressor factor' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_647681 Class: http://www.orpha.net/ORDO/Orphanet_209951 Label(s): Autosomal recessive spastic paraplegia type 18 + 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_441344 Label(s): OBSOLETE: Autosomal recessive optic atrophy, OPA9 type - 'OBSOLETE: Autosomal recessive optic atrophy, OPA9 type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal recessive isolated optic atrophy' + 'OBSOLETE: Autosomal recessive optic atrophy, OPA9 type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal recessive isolated optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_171201 Label(s): OBSOLETE: High isolated anorectal malformation - 'OBSOLETE: High isolated anorectal malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic anorectal malformation' + 'OBSOLETE: High isolated anorectal malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_124161 Label(s): pyruvate dehydrogenase E1 subunit alpha 1 - 'pyruvate dehydrogenase E1 subunit alpha 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_470608 Label(s): LIM zinc finger domain containing 2 - 'LIM zinc finger domain containing 2' SubClassOf 'gene with protein product' - 'LIM zinc finger domain containing 2' SubClassOf 'has_chromosomal location' value "2q14.3" - 'LIM zinc finger domain containing 2' SubClassOf 'disease-causing germline mutation(s) in' some 'LIMS2-related limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_101151 Label(s): Dystonia 14 - 'Dystonia 14' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant dopa-responsive dystonia' + 'Dystonia 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal dominant dopa-responsive dystonia' Class: http://www.orpha.net/ORDO/Orphanet_171215 Label(s): OBSOLETE: Low isolated anorectal malformation - 'OBSOLETE: Low isolated anorectal malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic anorectal malformation' + 'OBSOLETE: Low isolated anorectal malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_93395 Label(s): Ballard syndrome - 'Ballard syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Brachydactyly type E' + 'Ballard syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Brachydactyly type E' Class: http://www.orpha.net/ORDO/Orphanet_93389 Label(s): Brachydactyly type A5 - 'Brachydactyly type A5' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Brachydactyly type B' + 'Brachydactyly type A5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Brachydactyly type B' Class: http://www.orpha.net/ORDO/Orphanet_99987 Label(s): OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome - 'OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anophthalmia/microphthalmia-esophageal atresia syndrome' + 'OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Anophthalmia/microphthalmia-esophageal atresia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99986 Label(s): OBSOLETE: Familial restrictive cardiomyopathy type 2 - 'OBSOLETE: Familial restrictive cardiomyopathy type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated restrictive cardiomyopathy' + 'OBSOLETE: Familial restrictive cardiomyopathy type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial isolated restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_99985 Label(s): OBSOLETE: Familial restrictive cardiomyopathy type 1 - 'OBSOLETE: Familial restrictive cardiomyopathy type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated restrictive cardiomyopathy' + 'OBSOLETE: Familial restrictive cardiomyopathy type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial isolated restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_1800 Label(s): OBSOLETE: Craniofaciocervical osteoglyphic dysplasia - 'OBSOLETE: Craniofaciocervical osteoglyphic dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with decreased bone density' + 'OBSOLETE: Craniofaciocervical osteoglyphic dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_251523 Label(s): Hyperzincemia and hypercalprotectinemia + 'Hyperzincemia and hypercalprotectinemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_1804 Label(s): Dyssegmental dysplasia-glaucoma syndrome - 'Dyssegmental dysplasia-glaucoma syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Dyssegmental dysplasia, Rolland-Desbuquois type' + 'Dyssegmental dysplasia-glaucoma syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Dyssegmental dysplasia, Rolland-Desbuquois type' Class: http://www.orpha.net/ORDO/Orphanet_99974 Label(s): OBSOLETE: TACI-related selective deficiency of IgA - 'OBSOLETE: TACI-related selective deficiency of IgA' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency predominantly affecting antibody production' + 'OBSOLETE: TACI-related selective deficiency of IgA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_99973 Label(s): OBSOLETE: Immunoglobulin A2 deficiency - 'OBSOLETE: Immunoglobulin A2 deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency predominantly affecting antibody production' + 'OBSOLETE: Immunoglobulin A2 deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_93359 Label(s): Spondyloepimetaphyseal dysplasia with joint laxity - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Rare disorder with pigmented sclera' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'disorder' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_642099 + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_1819 Label(s): OBSOLETE: Epimetaphyseal skeletal dysplasia - 'OBSOLETE: Epimetaphyseal skeletal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple metaphyseal dysplasia' + 'OBSOLETE: Epimetaphyseal skeletal dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_91133 Label(s): OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome - 'OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome' + 'OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183672 Label(s): OBSOLETE: Common variable immunodeficiency due to TNFR deficiency - 'OBSOLETE: Common variable immunodeficiency due to TNFR deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Common variable immunodeficiency' + 'OBSOLETE: Common variable immunodeficiency due to TNFR deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_138486 Label(s): mediator complex subunit 12 + 'mediator complex subunit 12' SubClassOf 'disease-causing germline mutation(s) in' some 'Blepharophimosis-intellectual disability syndrome, Ohdo type' Class: http://www.orpha.net/ORDO/Orphanet_91129 Label(s): Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome - 'Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Matthew-Wood syndrome' + 'Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Matthew-Wood syndrome' Class: http://www.orpha.net/ORDO/Orphanet_91128 Label(s): OBSOLETE: Graft rejection after lung transplantation - 'OBSOLETE: Graft rejection after lung transplantation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Complication after organ transplantation' + 'OBSOLETE: Graft rejection after lung transplantation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Complication after organ transplantation' Class: http://www.orpha.net/ORDO/Orphanet_93313 Label(s): OBSOLETE: Multiple epiphyseal dysplasia, unclassified type - 'OBSOLETE: Multiple epiphyseal dysplasia, unclassified type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple epiphyseal dysplasia' + 'OBSOLETE: Multiple epiphyseal dysplasia, unclassified type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93303 Label(s): Brachyolmia type 1, Toledo type - 'Brachyolmia type 1, Toledo type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive brachyolmia' + 'Brachyolmia type 1, Toledo type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal recessive brachyolmia' Class: http://www.orpha.net/ORDO/Orphanet_93301 Label(s): Brachyolmia type 1, Hobaek type - 'Brachyolmia type 1, Hobaek type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive brachyolmia' + 'Brachyolmia type 1, Hobaek type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal recessive brachyolmia' Class: http://www.orpha.net/ORDO/Orphanet_406016 Label(s): DNA methyltransferase 3 alpha + 'DNA methyltransferase 3 alpha' SubClassOf 'disease-causing somatic mutation(s) in' some 'Acute myeloid leukaemia with myelodysplasia-related features' Class: http://www.orpha.net/ORDO/Orphanet_95504 Label(s): OBSOLETE: Metastatic pituitary hormone deficiency - 'OBSOLETE: Metastatic pituitary hormone deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pituitary hormone deficiency of tumoral origin' + 'OBSOLETE: Metastatic pituitary hormone deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pituitary hormone deficiency of tumoral origin' Class: http://www.orpha.net/ORDO/Orphanet_123411 Label(s): homeostatic iron regulator + 'homeostatic iron regulator' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_648581 Class: http://www.orpha.net/ORDO/Orphanet_181425 Label(s): OBSOLETE: Rare major hypertriglyceridemia - 'OBSOLETE: Rare major hypertriglyceridemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hyperlipidemia' + 'OBSOLETE: Rare major hypertriglyceridemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare hyperlipidemia' Class: http://www.orpha.net/ORDO/Orphanet_834 Label(s): Free sialic acid storage disease + 'Free sialic acid storage disease' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_102284 Label(s): OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome - 'OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_477814 Label(s): Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome + 'Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1894 Label(s): Ectrodactyly-spina bifida-cardiopathy syndrome - 'Ectrodactyly-spina bifida-cardiopathy syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Acrocardiofacial syndrome' + 'Ectrodactyly-spina bifida-cardiopathy syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Acrocardiofacial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_218432 Label(s): OBSOLETE: Familial restrictive cardiomyopathy type 3 - 'OBSOLETE: Familial restrictive cardiomyopathy type 3' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated restrictive cardiomyopathy' + 'OBSOLETE: Familial restrictive cardiomyopathy type 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial isolated restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_183604 Label(s): OBSOLETE: Rare genetic glaucoma - 'OBSOLETE: Rare genetic glaucoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pediatric-onset glaucoma of genetic origin' + 'OBSOLETE: Rare genetic glaucoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pediatric-onset glaucoma of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_813 Label(s): Silver-Russell syndrome + 'Silver-Russell syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_183601 Label(s): OBSOLETE: Rare genetic refraction anomaly - 'OBSOLETE: Rare genetic refraction anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare refraction anomaly' + 'OBSOLETE: Rare genetic refraction anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare refraction anomaly' Class: http://www.orpha.net/ORDO/Orphanet_807 Label(s): Sebastian syndrome - 'Sebastian syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MYH9-related disease' + 'Sebastian syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'MYH9-related disease' Class: http://www.orpha.net/ORDO/Orphanet_457252 Label(s): Squamous cell carcinoma of the oral tongue - 'Squamous cell carcinoma of the oral tongue' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Squamous cell carcinoma of the oral cavity' + 'Squamous cell carcinoma of the oral tongue' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Squamous cell carcinoma of the oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_71291 Label(s): Hereditary vascular retinopathy - 'Hereditary vascular retinopathy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' + 'Hereditary vascular retinopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_101980 Label(s): OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells - 'OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' + 'OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_77303 Label(s): OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect - 'OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Common variable immunodeficiency' + 'OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_71278 Label(s): Congenital brain dysgenesis due to glutamine synthetase deficiency + 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90339 Label(s): OBSOLETE: Rosselli-Gulienetti syndrome - 'OBSOLETE: Rosselli-Gulienetti syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ectodermal dysplasia syndrome' + 'OBSOLETE: Rosselli-Gulienetti syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_255199 Label(s): OBSOLETE: Sporadic Leigh syndrome - 'OBSOLETE: Sporadic Leigh syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mitochondrial DNA-associated Leigh syndrome' + 'OBSOLETE: Sporadic Leigh syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Mitochondrial DNA-associated Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_477668 Label(s): OBSOLETE: AymÚ-Gripp syndrome - 'OBSOLETE: AymÚ-Gripp syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Aymé-Gripp syndrome' + 'OBSOLETE: AymÚ-Gripp syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Aymé-Gripp syndrome' Class: http://www.orpha.net/ORDO/Orphanet_165961 Label(s): OBSOLETE: Subcutaneous myiasis - 'OBSOLETE: Subcutaneous myiasis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Cutaneous myiasis' + 'OBSOLETE: Subcutaneous myiasis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Cutaneous myiasis' Class: http://www.orpha.net/ORDO/Orphanet_228318 Label(s): OBSOLETE: Idiopathic hypersomnia without long sleep time - 'OBSOLETE: Idiopathic hypersomnia without long sleep time' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic hypersomnia' + 'OBSOLETE: Idiopathic hypersomnia without long sleep time' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Idiopathic hypersomnia' Class: http://www.orpha.net/ORDO/Orphanet_228315 Label(s): OBSOLETE: Idiopathic hypersomnia with long sleep time - 'OBSOLETE: Idiopathic hypersomnia with long sleep time' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic hypersomnia' + 'OBSOLETE: Idiopathic hypersomnia with long sleep time' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Idiopathic hypersomnia' Class: http://www.orpha.net/ORDO/Orphanet_599586 Label(s): pumilio RNA binding family member 1 + 'pumilio RNA binding family member 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642747 Class: http://www.orpha.net/ORDO/Orphanet_477647 Label(s): Type 1 interferonopathy - 'Type 1 interferonopathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' + 'Type 1 interferonopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_517938 Label(s): RNA, U12 small nuclear + 'RNA, U12 small nuclear' SubClassOf 'disease-causing germline mutation(s) in' some 'Craniosynostosis-anal anomalies-porokeratosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163746 Label(s): Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease + 'Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101982 Label(s): OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells - 'OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' + 'OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_118546 Label(s): synthesis of cytochrome C oxidase 2 - 'synthesis of cytochrome C oxidase 2' SubClassOf 'candidate gene tested in' some 'Leigh syndrome with cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_281234 Label(s): OBSOLETE: Congenital ichthyosis with trichothiodystrophy - 'OBSOLETE: Congenital ichthyosis with trichothiodystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Trichothiodystrophy' + 'OBSOLETE: Congenital ichthyosis with trichothiodystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_521268 Label(s): OBSOLETE: SLC5A6-CDG - 'OBSOLETE: SLC5A6-CDG' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Disorder of other vitamins and cofactors metabolism and transport' + 'OBSOLETE: SLC5A6-CDG' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Disorder of other vitamins and cofactors metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_365648 Label(s): bleomycin hydrolase - 'bleomycin hydrolase' SubClassOf 'gene with protein product' - 'bleomycin hydrolase' SubClassOf 'has_chromosomal location' value "17q11.2" - 'bleomycin hydrolase' SubClassOf 'biomarker tested in' some 'Prediction of resistance to bleomycine in the treatment of testicular cancer' Class: http://www.orpha.net/ORDO/Orphanet_391804 Label(s): phosphodiesterase 6D + 'phosphodiesterase 6D' SubClassOf 'disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1266 Label(s): Dermato-cardio-skeletal syndrome, Borrone type - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Frank-Ter Haar syndrome' + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Frank-Ter Haar syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3460 Label(s): Torg-Winchester syndrome - 'Torg-Winchester syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' + 'Torg-Winchester syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_1250 Label(s): OBSOLETE: Blaichman syndrome - 'OBSOLETE: Blaichman syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'OBSOLETE: Blaichman syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3450 Label(s): Weissenbacher-Zweymuller syndrome - 'Weissenbacher-Zweymuller syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant otospondylomegaepiphyseal dysplasia' + 'Weissenbacher-Zweymuller syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal dominant otospondylomegaepiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_95484 Label(s): OBSOLETE: Aneurysm or dilatation of ascending aorta - 'OBSOLETE: Aneurysm or dilatation of ascending aorta' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial thoracic aortic aneurysm and aortic dissection' + 'OBSOLETE: Aneurysm or dilatation of ascending aorta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_99893 Label(s): ACTH-independent Cushing syndrome - 'ACTH-independent Cushing syndrome' SubClassOf 'Rare female infertility due to an adrenal disorder' - 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' - 'ACTH-independent Cushing syndrome' SubClassOf 'group of disorders' - 'ACTH-independent Cushing syndrome' SubClassOf 'Rare male infertility due to adrenal disorder' + 'ACTH-independent Cushing syndrome' SubClassOf 'obsolete group of disorder' + 'ACTH-independent Cushing syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_647758 Class: http://www.orpha.net/ORDO/Orphanet_240897 Label(s): OBSOLETE: Phenprocoumon toxicity - 'OBSOLETE: Phenprocoumon toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Phenprocoumon toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_3444 Label(s): Watson syndrome - 'Watson syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Neurofibromatosis type 1' + 'Watson syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Neurofibromatosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_93275 Label(s): Thanatophoric dysplasia, Glasgow variant - 'Thanatophoric dysplasia, Glasgow variant' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cartilage-hair hypoplasia' + 'Thanatophoric dysplasia, Glasgow variant' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cartilage-hair hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_1235 Label(s): OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome - 'OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Absence of fingerprints-congenital milia syndrome' + 'OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Absence of fingerprints-congenital milia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99886 Label(s): Transient neonatal diabetes mellitus + 'Transient neonatal diabetes mellitus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_99885 Label(s): Isolated permanent neonatal diabetes mellitus + 'Isolated permanent neonatal diabetes mellitus' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3438 Label(s): Biliary tract malformation-renal failure syndrome - 'Biliary tract malformation-renal failure syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Arthrogryposis-renal dysfunction-cholestasis syndrome' + 'Biliary tract malformation-renal failure syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Arthrogryposis-renal dysfunction-cholestasis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183598 Label(s): OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease - 'OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare genetic disorder of the ocular adnexa' + 'OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare genetic disorder of the ocular adnexa' Class: http://www.orpha.net/ORDO/Orphanet_99877 Label(s): OBSOLETE: Familial parathyroid adenoma - 'OBSOLETE: Familial parathyroid adenoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated hyperparathyroidism' + 'OBSOLETE: Familial parathyroid adenoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial isolated hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_99872 Label(s): OBSOLETE: Hashimoto-Pritzker syndrome - 'OBSOLETE: Hashimoto-Pritzker syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' + 'OBSOLETE: Hashimoto-Pritzker syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_99871 Label(s): OBSOLETE: Eosinophilic granuloma - 'OBSOLETE: Eosinophilic granuloma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' + 'OBSOLETE: Eosinophilic granuloma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_99870 Label(s): OBSOLETE: Letterer-Siwe disease - 'OBSOLETE: Letterer-Siwe disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' + 'OBSOLETE: Letterer-Siwe disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_3423 Label(s): Vasquez-Hurst-Sotos syndrome - 'Vasquez-Hurst-Sotos syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Xq27.3q28 duplication syndrome' + 'Vasquez-Hurst-Sotos syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Xq27.3q28 duplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97668 Label(s): OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency - 'OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization' + 'OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization' Class: http://www.orpha.net/ORDO/Orphanet_794 Label(s): Saethre-Chotzen syndrome + 'Saethre-Chotzen syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3419 Label(s): OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome - 'OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_622005 Label(s): dynein heavy chain domain 1 + 'dynein heavy chain domain 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_95449 Label(s): OBSOLETE: Congenital aortic valve insufficiency - 'OBSOLETE: Congenital aortic valve insufficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Aortic malformation' + 'OBSOLETE: Congenital aortic valve insufficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_788 Label(s): OBSOLETE: Hereditary resistance to anti-vitamin K - 'OBSOLETE: Hereditary resistance to anti-vitamin K' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of resistance to vitamin K antagonists' + 'OBSOLETE: Hereditary resistance to anti-vitamin K' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_377743 Label(s): NADH:ubiquinone oxidoreductase subunit A13 - 'NADH:ubiquinone oxidoreductase subunit A13' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1939 Label(s): OBSOLETE: Envenomization by Bothrops lanceolatus - 'OBSOLETE: Envenomization by Bothrops lanceolatus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Snakebite envenomation' + 'OBSOLETE: Envenomization by Bothrops lanceolatus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Snakebite envenomation' Class: http://www.orpha.net/ORDO/Orphanet_118549 Label(s): succinate dehydrogenase complex flavoprotein subunit A - 'succinate dehydrogenase complex flavoprotein subunit A' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_775 Label(s): OBSOLETE: X-linked intellectual disability, Martinez type - 'OBSOLETE: X-linked intellectual disability, Martinez type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked non-syndromic intellectual disability' + 'OBSOLETE: X-linked intellectual disability, Martinez type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1940 Label(s): Shoulder and thorax deformity-congenital heart disease syndrome - 'Shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Holt-Oram syndrome' + 'Shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Holt-Oram syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93222 Label(s): OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation - 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' + 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93221 Label(s): OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes - 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' + 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93220 Label(s): OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis - 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' + 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99831 Label(s): OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect - 'OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Common variable immunodeficiency' + 'OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_93216 Label(s): OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes - 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' + 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93214 Label(s): OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation - 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' + 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93213 Label(s): OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis - 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' + 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93209 Label(s): OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation - 'OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic steroid-sensitive nephrotic syndrome' + 'OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93206 Label(s): OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis - 'OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic steroid-sensitive nephrotic syndrome' + 'OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163924 Label(s): OBSOLETE: Non-herpetic acute limbic encephalitis - 'OBSOLETE: Non-herpetic acute limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Non-herpetic acute limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_739 Label(s): Prader-Willi syndrome + 'Prader-Willi syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_736 Label(s): Palmoplantar porokeratosis of Mantoux - 'Palmoplantar porokeratosis of Mantoux' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Punctate palmoplantar keratoderma type 2' + 'Palmoplantar porokeratosis of Mantoux' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Punctate palmoplantar keratoderma type 2' Class: http://www.orpha.net/ORDO/Orphanet_471312 Label(s): ubiquitin specific peptidase 7 + 'ubiquitin specific peptidase 7' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_643538 Class: http://www.orpha.net/ORDO/Orphanet_178040 Label(s): Rare peripheral precocious puberty - 'Rare peripheral precocious puberty' SubClassOf 'Genetic endocrine growth disease' Class: http://www.orpha.net/ORDO/Orphanet_79443 Label(s): Pseudohypoparathyroidism type 1A + 'Pseudohypoparathyroidism type 1A' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_717 Label(s): OBSOLETE: Catecholamine-producing tumor - 'OBSOLETE: Catecholamine-producing tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Adrenal/paraganglial tumor' + 'OBSOLETE: Catecholamine-producing tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Adrenal/paraganglial tumor' Class: http://www.orpha.net/ORDO/Orphanet_711 Label(s): Glycogen storage disease due to phosphoglucomutase deficiency - 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf http://www.orpha.net/ORDO/moved_to some 'PGM1-CDG' + 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'PGM1-CDG' Class: http://www.orpha.net/ORDO/Orphanet_487851 Label(s): exocyst complex component 6B - 'exocyst complex component 6B' SubClassOf 'disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia with joint laxity' + 'exocyst complex component 6B' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642085 Class: http://www.orpha.net/ORDO/Orphanet_2486 Label(s): Transverse limb deficiency-hemangioma syndrome - 'Transverse limb deficiency-hemangioma syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Familial cerebral cavernous malformation' + 'Transverse limb deficiency-hemangioma syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Familial cerebral cavernous malformation' Class: http://www.orpha.net/ORDO/Orphanet_2343 Label(s): OBSOLETE: Isolated cloverleaf skull syndrome - 'OBSOLETE: Isolated cloverleaf skull syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic non-specific multisutural craniosynostosis' + 'OBSOLETE: Isolated cloverleaf skull syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic non-specific multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_3446 Label(s): Weaver-like syndrome - 'Weaver-like syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Weaver syndrome' + 'Weaver-like syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Weaver syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1245 Label(s): BIDS syndrome - 'BIDS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' + 'BIDS syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_79482 Label(s): Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome - 'Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Primary non-essential cutis verticis gyrata' + 'Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Primary non-essential cutis verticis gyrata' Class: http://www.orpha.net/ORDO/Orphanet_79486 Label(s): Cystic hygroma - 'Cystic hygroma' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Macrocystic lymphatic malformation' + 'Cystic hygroma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Macrocystic lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_2355 Label(s): Kumar-Levick syndrome - 'Kumar-Levick syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cooks syndrome' + 'Kumar-Levick syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cooks syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1256 Label(s): OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome - 'OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndrome with synostosis or other joint formation defect' + 'OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_123982 Label(s): OFD1 centriole and centriolar satellite protein + 'OFD1 centriole and centriolar satellite protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_77297 Label(s): Majeed syndrome + 'Majeed syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_1260 Label(s): OBSOLETE: Sino-auricular heart block - 'OBSOLETE: Sino-auricular heart block' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial sick sinus syndrome' + 'OBSOLETE: Sino-auricular heart block' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial sick sinus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_437867 Label(s): NADH:ubiquinone oxidoreductase subunit A12 - 'NADH:ubiquinone oxidoreductase subunit A12' SubClassOf 'has_chromosomal location' value "12q22" - 'NADH:ubiquinone oxidoreductase subunit A12' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'NADH:ubiquinone oxidoreductase subunit A12' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_163681 Label(s): CNTNAP2-related developmental and epileptic encephalopathy + 'CNTNAP2-related developmental and epileptic encephalopathy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163678 Label(s): OBSOLETE: Unclassified spondylometaphyseal dysplasia - 'OBSOLETE: Unclassified spondylometaphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spondylometaphyseal dysplasia' + 'OBSOLETE: Unclassified spondylometaphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_163673 Label(s): Spondyloepiphyseal dysplasia, Byers type - 'Spondyloepiphyseal dysplasia, Byers type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Spondyloepiphyseal dysplasia tarda' + 'Spondyloepiphyseal dysplasia, Byers type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Spondyloepiphyseal dysplasia tarda' Class: http://www.orpha.net/ORDO/Orphanet_226016 Label(s): phosphodiesterase 8B - 'phosphodiesterase 8B' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' Class: http://www.orpha.net/ORDO/Orphanet_435623 Label(s): OBSOLETE: Adactyly of foot - 'OBSOLETE: Adactyly of foot' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic limb reduction defect' + 'OBSOLETE: Adactyly of foot' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic limb reduction defect' Class: http://www.orpha.net/ORDO/Orphanet_2389 Label(s): Lewis-Pashayan syndrome - 'Lewis-Pashayan syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'EEC syndrome' + 'Lewis-Pashayan syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'EEC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_447795 Label(s): Lipoyl transferase 2 deficiency - 'Lipoyl transferase 2 deficiency' SubClassOf 'part_of' some 'Biological anomaly without phenotypic characterization' + 'Lipoyl transferase 2 deficiency' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' + 'Lipoyl transferase 2 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Lipoyl transferase 2 deficiency' SubClassOf 'part_of' some 'Lipoic acid biosynthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_240913 Label(s): OBSOLETE: Simvastatin toxicity - 'OBSOLETE: Simvastatin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' + 'OBSOLETE: Simvastatin toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240923 Label(s): OBSOLETE: Warfarine toxicity - 'OBSOLETE: Warfarine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Warfarine toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_227786 Label(s): OBSOLETE: Familial flecked retinopathy - 'OBSOLETE: Familial flecked retinopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited retinal disorder' + 'OBSOLETE: Familial flecked retinopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_2029 Label(s): Multiple non-ossifying fibromatosis - 'Multiple non-ossifying fibromatosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Neurofibromatosis type 1' + 'Multiple non-ossifying fibromatosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Neurofibromatosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_633124 Label(s): Invasive scopulariopsis infection + 'Invasive scopulariopsis infection' SubClassOf 'part_of' some 'Rare disorder potentially indicated for transplant or complication after transplantation' Class: http://www.orpha.net/ORDO/Orphanet_506124 Label(s): OBSOLETE: Neuroendocrine tumor of small intestine - 'OBSOLETE: Neuroendocrine tumor of small intestine' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuroendocrine tumor of the small intestine' + 'OBSOLETE: Neuroendocrine tumor of small intestine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neuroendocrine tumor of the small intestine' Class: http://www.orpha.net/ORDO/Orphanet_240937 Label(s): OBSOLETE: Resistance to fluindione in venous thrombosis and atrial fibrillation - 'OBSOLETE: Resistance to fluindione in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of resistance to vitamin K antagonists' + 'OBSOLETE: Resistance to fluindione in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_609991 Label(s): 4-hydroxyphenylpyruvate dioxygenase like + '4-hydroxyphenylpyruvate dioxygenase like' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_641353 Class: http://www.orpha.net/ORDO/Orphanet_228418 Label(s): OBSOLETE: Microcephaly-seizures-developmental delay syndrome - 'OBSOLETE: Microcephaly-seizures-developmental delay syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early infantile epileptic encephalopathy' + 'OBSOLETE: Microcephaly-seizures-developmental delay syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_2042 Label(s): OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome - 'OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Esophageal atresia' + 'OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Esophageal atresia' Class: http://www.orpha.net/ORDO/Orphanet_3390 Label(s): Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome - 'Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Kearns-Sayre syndrome' + 'Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Kearns-Sayre syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3389 Label(s): Tuberculosis - 'Tuberculosis' SubClassOf 'part_of' some 'Pituitary hormone deficiency secondary to a granulomatous disease' - 'Tuberculosis' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Tuberculosis' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' - 'Tuberculosis' SubClassOf 'disorder' - 'Tuberculosis' SubClassOf 'disease' - 'Tuberculosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Tuberculosis' SubClassOf 'Rare bacterial infectious disease' + 'Tuberculosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_240959 Label(s): OBSOLETE: Susceptibility to adverse reaction due to antipsychotics treatment - 'OBSOLETE: Susceptibility to adverse reaction due to antipsychotics treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to antipsychotics treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_89845 Label(s): OBSOLETE: Idiopathic hydrops fetalis - 'OBSOLETE: Idiopathic hydrops fetalis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-immune hydrops fetalis' + 'OBSOLETE: Idiopathic hydrops fetalis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-immune hydrops fetalis' Class: http://www.orpha.net/ORDO/Orphanet_89841 Label(s): OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa - 'OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form' + 'OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form' Class: http://www.orpha.net/ORDO/Orphanet_89840 Label(s): OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type - 'OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Intermediate generalized junctional epidermolysis bullosa' + 'OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Intermediate generalized junctional epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_240967 Label(s): OBSOLETE: Susceptibility to adverse reaction due to codeine treatment - 'OBSOLETE: Susceptibility to adverse reaction due to codeine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to codeine treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_263676 Label(s): OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features - 'OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited epidermolysis bullosa' + 'OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Inherited epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_443328 Label(s): OBSOLETE: HIV-related Kaposi sarcoma - 'OBSOLETE: HIV-related Kaposi sarcoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' + 'OBSOLETE: HIV-related Kaposi sarcoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_443325 Label(s): OBSOLETE: HIV-related Non-Hodgkin lymphoma - 'OBSOLETE: HIV-related Non-Hodgkin lymphoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' + 'OBSOLETE: HIV-related Non-Hodgkin lymphoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_443322 Label(s): OBSOLETE: HIV-related cervical cancer - 'OBSOLETE: HIV-related cervical cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' + 'OBSOLETE: HIV-related cervical cancer' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_89833 Label(s): Palmoplantar keratoderma with tonotubular keratin - 'Palmoplantar keratoderma with tonotubular keratin' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Epidermolytic palmoplantar keratoderma' + 'Palmoplantar keratoderma with tonotubular keratin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Epidermolytic palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_240975 Label(s): OBSOLETE: Susceptibility to adverse reaction due to isoniazide treatment - 'OBSOLETE: Susceptibility to adverse reaction due to isoniazide treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of isoniazid toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to isoniazide treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of isoniazid toxicity' Class: http://www.orpha.net/ORDO/Orphanet_3362 Label(s): OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome - 'OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated trichomegaly' + 'OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial isolated trichomegaly' Class: http://www.orpha.net/ORDO/Orphanet_443319 Label(s): OBSOLETE: HIV-related vulvovaginal cancer - 'OBSOLETE: HIV-related vulvovaginal cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' + 'OBSOLETE: HIV-related vulvovaginal cancer' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_443316 Label(s): OBSOLETE: HIV-related Hodgkin lymphoma - 'OBSOLETE: HIV-related Hodgkin lymphoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' + 'OBSOLETE: HIV-related Hodgkin lymphoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_1155 Label(s): OBSOLETE: Arthrogryposis due to muscular dystrophy - 'OBSOLETE: Arthrogryposis due to muscular dystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arthrogryposis multiplex congenita' + 'OBSOLETE: Arthrogryposis due to muscular dystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_443313 Label(s): OBSOLETE: HIV-related penile cancer - 'OBSOLETE: HIV-related penile cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' + 'OBSOLETE: HIV-related penile cancer' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_97599 Label(s): OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis - 'OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cause of hypertension' + 'OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_443307 Label(s): OBSOLETE: HIV-related anal cancer - 'OBSOLETE: HIV-related anal cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' + 'OBSOLETE: HIV-related anal cancer' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_443301 Label(s): OBSOLETE: HIV-related lung cancer - 'OBSOLETE: HIV-related lung cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' + 'OBSOLETE: HIV-related lung cancer' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_3349 Label(s): Treft-Sanborn-Carey syndrome - 'Treft-Sanborn-Carey syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant optic atrophy plus syndrome' + 'Treft-Sanborn-Carey syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal dominant optic atrophy plus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_371064 Label(s): OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature - 'OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_369902 Label(s): OBSOLETE: DDX59-related orofaciodigital syndrome - 'OBSOLETE: DDX59-related orofaciodigital syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Orofaciodigital syndrome type 5' + 'OBSOLETE: DDX59-related orofaciodigital syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Orofaciodigital syndrome type 5' Class: http://www.orpha.net/ORDO/Orphanet_93178 Label(s): OBSOLETE: Partial prune belly syndrome - 'OBSOLETE: Partial prune belly syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prune belly syndrome' + 'OBSOLETE: Partial prune belly syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prune belly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98312 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder - 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility due to testicular endocrine disorder' + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility due to testicular endocrine disorder' Class: http://www.orpha.net/ORDO/Orphanet_213817 Label(s): Papillary carcinoma of the cervix uteri - 'Papillary carcinoma of the cervix uteri' SubClassOf 'disease' - 'Papillary carcinoma of the cervix uteri' SubClassOf 'part_of' some 'Rare cancer of cervix uteri' - 'Papillary carcinoma of the cervix uteri' SubClassOf 'disorder' + 'Papillary carcinoma of the cervix uteri' SubClassOf 'obsolete disorder' + 'Papillary carcinoma of the cervix uteri' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Squamous cell carcinoma of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_2112 Label(s): OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome - 'OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare pulmonary disease' + 'OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_99782 Label(s): OBSOLETE: Familial articular chondrocalcinosis type 2 - 'OBSOLETE: Familial articular chondrocalcinosis type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial calcium pyrophosphate deposition' + 'OBSOLETE: Familial articular chondrocalcinosis type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial calcium pyrophosphate deposition' Class: http://www.orpha.net/ORDO/Orphanet_3332 Label(s): Hypoplastic tibiae-postaxial polydactyly syndrome - 'Hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' + 'Hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3331 Label(s): OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome - 'OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with decreased bone density' + 'OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_251316 Label(s): OBSOLETE: Unclassified overlapping connective tissue disease - 'OBSOLETE: Unclassified overlapping connective tissue disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Undifferentiated connective tissue syndrome' + 'OBSOLETE: Unclassified overlapping connective tissue disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Undifferentiated connective tissue syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3323 Label(s): Braddock-Carey syndrome - 'Braddock-Carey syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '21q22.11q22.12 microdeletion syndrome' + 'Braddock-Carey syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some '21q22.11q22.12 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_537891 Label(s): OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh - 'OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary angioedema with normal C1Inh not related to F12 or PLG variant' + 'OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary angioedema with normal C1Inh not related to F12 or PLG variant' Class: http://www.orpha.net/ORDO/Orphanet_99763 Label(s): OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 - 'OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial hypoaldosteronism' + 'OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial hypoaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_3311 Label(s): OBSOLETE: Infantile symmetrical thalamic degeneration - 'OBSOLETE: Infantile symmetrical thalamic degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Symmetrical thalamic calcifications' + 'OBSOLETE: Infantile symmetrical thalamic degeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Symmetrical thalamic calcifications' Class: http://www.orpha.net/ORDO/Orphanet_97555 Label(s): OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy - 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' + 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1102 Label(s): Anophthalmia-hypothalamo-pituitary insufficiency syndrome - 'Anophthalmia-hypothalamo-pituitary insufficiency syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' + 'Anophthalmia-hypothalamo-pituitary insufficiency syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_680 Label(s): Normokalemic periodic paralysis - 'Normokalemic periodic paralysis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hyperkalemic periodic paralysis' + 'Normokalemic periodic paralysis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hyperkalemic periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_96136 Label(s): OBSOLETE: Non-distal monosomy 7p - 'OBSOLETE: Non-distal monosomy 7p' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Partial deletion of the short arm of chromosome 7' + 'OBSOLETE: Non-distal monosomy 7p' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Partial deletion of the short arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_669 Label(s): OBSOLETE: Otopalatodigital syndrome - 'OBSOLETE: Otopalatodigital syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Otopalatodigital syndrome spectrum disorder' + 'OBSOLETE: Otopalatodigital syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Otopalatodigital syndrome spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_665 Label(s): Albright hereditary osteodystrophy - 'Albright hereditary osteodystrophy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' + 'Albright hereditary osteodystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_79504 Label(s): Ichthyosis hystrix gravior - 'Ichthyosis hystrix gravior' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Ichthyosis hystrix of Curth-Macklin' + 'Ichthyosis hystrix gravior' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Ichthyosis hystrix of Curth-Macklin' Class: http://www.orpha.net/ORDO/Orphanet_77302 Label(s): Oculo-oto-facial dysplasia - 'Oculo-oto-facial dysplasia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Burn-McKeown syndrome' + 'Oculo-oto-facial dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Burn-McKeown syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99722 Label(s): OBSOLETE: Sporadic achalasia - 'OBSOLETE: Sporadic achalasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic achalasia' + 'OBSOLETE: Sporadic achalasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Idiopathic achalasia' Class: http://www.orpha.net/ORDO/Orphanet_507877 Label(s): sperm associated antigen 17 + 'sperm associated antigen 17' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_206619 Label(s): OBSOLETE: Toxic or/and iatrogenic neuropathy - 'OBSOLETE: Toxic or/and iatrogenic neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired peripheral neuropathy' + 'OBSOLETE: Toxic or/and iatrogenic neuropathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_139373 Label(s): OBSOLETE: Recessive hereditary methemoglobinemia type 1 - 'OBSOLETE: Recessive hereditary methemoglobinemia type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary methemoglobinemia' + 'OBSOLETE: Recessive hereditary methemoglobinemia type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary methemoglobinemia' Class: http://www.orpha.net/ORDO/Orphanet_623 Label(s): NAME syndrome - 'NAME syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Carney complex' + 'NAME syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Carney complex' Class: http://www.orpha.net/ORDO/Orphanet_90649 Label(s): Orofaciodigital syndrome type 7 - 'Orofaciodigital syndrome type 7' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Orofaciodigital syndrome type 1' + 'Orofaciodigital syndrome type 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Orofaciodigital syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_96164 Label(s): OBSOLETE: Non-distal monosomy 20q - 'OBSOLETE: Non-distal monosomy 20q' SubClassOf http://www.orpha.net/ORDO/referred_to some '20q11.2 microdeletion syndrome' + 'OBSOLETE: Non-distal monosomy 20q' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some '20q11.2 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1249 Label(s): OBSOLETE: Binswanger disease - 'OBSOLETE: Binswanger disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cerebrovascular dementia' + 'OBSOLETE: Binswanger disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare cerebrovascular dementia' Class: http://www.orpha.net/ORDO/Orphanet_241005 Label(s): OBSOLETE: Susceptibility to hypersensitivity syndrome due to abacavir treatment - 'OBSOLETE: Susceptibility to hypersensitivity syndrome due to abacavir treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of abacavir toxicity' + 'OBSOLETE: Susceptibility to hypersensitivity syndrome due to abacavir treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of abacavir toxicity' Class: http://www.orpha.net/ORDO/Orphanet_294929 Label(s): OBSOLETE: Terminal limb defects - 'OBSOLETE: Terminal limb defects' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic limb reduction defect' + 'OBSOLETE: Terminal limb defects' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic limb reduction defect' Class: http://www.orpha.net/ORDO/Orphanet_294931 Label(s): OBSOLETE: Adactyly of hand - 'OBSOLETE: Adactyly of hand' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic limb reduction defect' + 'OBSOLETE: Adactyly of hand' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic limb reduction defect' Class: http://www.orpha.net/ORDO/Orphanet_294935 Label(s): OBSOLETE: Split hand or/and split foot malformation - 'OBSOLETE: Split hand or/and split foot malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' + 'OBSOLETE: Split hand or/and split foot malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_294939 Label(s): OBSOLETE: Preaxial polydactyly of fingers - 'OBSOLETE: Preaxial polydactyly of fingers' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic preaxial polydactyly' + 'OBSOLETE: Preaxial polydactyly of fingers' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_619363 Label(s): Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 - 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' + 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_507834 Label(s): short chain dehydrogenase/reductase family 9C member 7 + 'short chain dehydrogenase/reductase family 9C member 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' Class: http://www.orpha.net/ORDO/Orphanet_294942 Label(s): OBSOLETE: Postaxial polydactyly of fingers - 'OBSOLETE: Postaxial polydactyly of fingers' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic postaxial polydactyly' + 'OBSOLETE: Postaxial polydactyly of fingers' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic postaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_231108 Label(s): Familial rhabdoid tumor - 'Familial rhabdoid tumor' SubClassOf 'subtype of a disorder' - 'Familial rhabdoid tumor' SubClassOf 'part_of' some 'Genetic soft tissue tumor' - 'Familial rhabdoid tumor' SubClassOf 'part_of' some 'Rhabdoid tumor' + 'Familial rhabdoid tumor' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' + 'Familial rhabdoid tumor' SubClassOf 'disease' + 'Familial rhabdoid tumor' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_480773 Label(s): OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome - 'OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'FATCO syndrome' + 'OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'FATCO syndrome' Class: http://www.orpha.net/ORDO/Orphanet_241033 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to vecuronium treatment - 'OBSOLETE: Susceptibility to prolonged paralysis due to vecuronium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Susceptibility to prolonged paralysis due to vecuronium treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241035 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to allopurinol treatment - 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to allopurinol treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of allopurinol toxicity' + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to allopurinol treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of allopurinol toxicity' Class: http://www.orpha.net/ORDO/Orphanet_73274 Label(s): OBSOLETE: Acquired hemophilia - 'OBSOLETE: Acquired hemophilia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' + 'OBSOLETE: Acquired hemophilia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_294961 Label(s): OBSOLETE: Syndromes with synostoses of limbs - 'OBSOLETE: Syndromes with synostoses of limbs' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndrome with synostosis or other joint formation defect' + 'OBSOLETE: Syndromes with synostoses of limbs' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_235838 Label(s): OBSOLETE: Congenital vascular bone syndrome with limb shortening - 'OBSOLETE: Congenital vascular bone syndrome with limb shortening' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital vascular bone syndrome' + 'OBSOLETE: Congenital vascular bone syndrome with limb shortening' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_235835 Label(s): OBSOLETE: Congenital vascular bone syndrome with limb overgrowth - 'OBSOLETE: Congenital vascular bone syndrome with limb overgrowth' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital vascular bone syndrome' + 'OBSOLETE: Congenital vascular bone syndrome with limb overgrowth' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_275534 Label(s): OBSOLETE: Myostatin-related muscle hypertrophy - 'OBSOLETE: Myostatin-related muscle hypertrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare genetic disease' + 'OBSOLETE: Myostatin-related muscle hypertrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare genetic disease' Class: http://www.orpha.net/ORDO/Orphanet_294992 Label(s): OBSOLETE: Split hand - 'OBSOLETE: Split hand' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' + 'OBSOLETE: Split hand' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_294996 Label(s): OBSOLETE: Brachydactyly of fingers - 'OBSOLETE: Brachydactyly of fingers' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' + 'OBSOLETE: Brachydactyly of fingers' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_633076 Label(s): Split cord malformation, composite type - 'Split cord malformation, composite type' SubClassOf 'subtype of a disorder' + 'Split cord malformation, composite type' SubClassOf 'Morphological anomaly' + 'Split cord malformation, composite type' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_213517 Label(s): Familial ovarian cancer - 'Familial ovarian cancer' SubClassOf 'group of disorders' - 'Familial ovarian cancer' SubClassOf 'Genetic gynecological tumor' - 'Familial ovarian cancer' SubClassOf 'Inherited gynecological cancer-predisposing syndrome' - 'Familial ovarian cancer' SubClassOf 'Malignant non-epithelial tumor of ovary' + 'Familial ovarian cancer' SubClassOf 'obsolete group of disorder' + 'Familial ovarian cancer' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Malignant non-epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_1773 Label(s): Sacrococcygeal dysgenesis association - 'Sacrococcygeal dysgenesis association' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Caudal regression syndrome' + 'Sacrococcygeal dysgenesis association' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Caudal regression syndrome' Class: http://www.orpha.net/ORDO/Orphanet_73220 Label(s): X-linked intellectual disability-hypotonic face syndrome - 'X-linked intellectual disability-hypotonic face syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' + 'X-linked intellectual disability-hypotonic face syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171208 Label(s): OBSOLETE: Intermediate isolated anorectal malformation - 'OBSOLETE: Intermediate isolated anorectal malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic anorectal malformation' + 'OBSOLETE: Intermediate isolated anorectal malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_123821 Label(s): NLR family pyrin domain containing 3 + 'NLR family pyrin domain containing 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_647815 Class: http://www.orpha.net/ORDO/Orphanet_369894 Label(s): OBSOLETE: Early infantile epileptic encephalopathy without suppression burst - 'OBSOLETE: Early infantile epileptic encephalopathy without suppression burst' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-specific early-onset epileptic encephalopathy' + 'OBSOLETE: Early infantile epileptic encephalopathy without suppression burst' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_443287 Label(s): ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor - 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' SubClassOf 'ACTH-independent Cushing syndrome' - 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' SubClassOf 'group of disorders' + 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' SubClassOf 'obsolete group of disorder' + 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_647758 Class: http://www.orpha.net/ORDO/Orphanet_490675 Label(s): sulfotransferase family 2B member 1 + 'sulfotransferase family 2B member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' Class: http://www.orpha.net/ORDO/Orphanet_2113 Label(s): Congenital hypothalamic hamartoma syndrome - 'Congenital hypothalamic hamartoma syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pallister-Hall syndrome' + 'Congenital hypothalamic hamartoma syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Pallister-Hall syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163528 Label(s): OBSOLETE: Acute cutaneous lupus erythematosus - 'OBSOLETE: Acute cutaneous lupus erythematosus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cutaneous lupus erythematosus' + 'OBSOLETE: Acute cutaneous lupus erythematosus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_370019 Label(s): Spondylometaphyseal dysplasia, Czarny-Ratajczak type - 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'disorder' - 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Spondylometaphyseal dysplasia, A4 type' + 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_370938 Label(s): Salt-and-pepper syndrome - 'Salt-and-pepper syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'GM3 synthase deficiency' + 'Salt-and-pepper syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'GM3 synthase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2125 Label(s): Sacral hemangiomas-multiple congenital abnormalities syndrome - 'Sacral hemangiomas-multiple congenital abnormalities syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'LUMBAR syndrome' + 'Sacral hemangiomas-multiple congenital abnormalities syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'LUMBAR syndrome' Class: http://www.orpha.net/ORDO/Orphanet_260889 Label(s): tubulin alpha 8 + 'tubulin alpha 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_633014 Label(s): SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome - 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166068 Label(s): Pontocerebellar hypoplasia type 5 - 'Pontocerebellar hypoplasia type 5' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pontocerebellar hypoplasia type 4' + 'Pontocerebellar hypoplasia type 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Pontocerebellar hypoplasia type 4' Class: http://www.orpha.net/ORDO/Orphanet_1092 Label(s): Renal-genital-middle ear anomalies - 'Renal-genital-middle ear anomalies' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' + 'Renal-genital-middle ear anomalies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_213574 Label(s): Rare variants of adenocarcinoma of the corpus uteri - 'Rare variants of adenocarcinoma of the corpus uteri' SubClassOf 'disorder' - 'Rare variants of adenocarcinoma of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of corpus uteri' - 'Rare variants of adenocarcinoma of the corpus uteri' SubClassOf 'disease' + 'Rare variants of adenocarcinoma of the corpus uteri' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare cancer of corpus uteri' + 'Rare variants of adenocarcinoma of the corpus uteri' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_1088 Label(s): OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome - 'OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85331 Label(s): OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome - 'OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' + 'OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85330 Label(s): X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome - 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MASA syndrome' + 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'MASA syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93942 Label(s): OBSOLETE: Superior celosomia - 'OBSOLETE: Superior celosomia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic diaphragmatic or abdominal wall malformation' + 'OBSOLETE: Superior celosomia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_1060 Label(s): Systemic cystic angiomatosis-Seip syndrome - 'Systemic cystic angiomatosis-Seip syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Congenital generalized lipodystrophy' + 'Systemic cystic angiomatosis-Seip syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Congenital generalized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_213741 Label(s): OBSOLETE: Adenoid cystic carcinoma of the corpus uteri - 'OBSOLETE: Adenoid cystic carcinoma of the corpus uteri' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Adenoid cystic carcinoma of the cervix uteri' + 'OBSOLETE: Adenoid cystic carcinoma of the corpus uteri' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Adenoid cystic carcinoma of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_1057 Label(s): OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome - 'OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_3253 Label(s): Cleft lip/palate-ectodermal dysplasia syndrome + 'Cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_415675 Label(s): OBSOLETE: Small pox - 'OBSOLETE: Small pox' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Human infection by orthopoxvirus' + 'OBSOLETE: Small pox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Human infection by orthopoxvirus' Class: http://www.orpha.net/ORDO/Orphanet_1139 Label(s): OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome - 'OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' + 'OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' Class: http://www.orpha.net/ORDO/Orphanet_1048 Label(s): Isolated anencephaly/exencephaly - 'Isolated anencephaly/exencephaly' SubClassOf 'part_of' some 'Neural tube closure defect' + 'Isolated anencephaly/exencephaly' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_93955 Label(s): OBSOLETE: Benign essential blepharospasm - 'OBSOLETE: Benign essential blepharospasm' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' + 'OBSOLETE: Benign essential blepharospasm' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_1044 Label(s): OBSOLETE: Anemia due to adenosine triphosphatase deficiency - 'OBSOLETE: Anemia due to adenosine triphosphatase deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare constitutional hemolytic anemia due to an enzyme disorder' + 'OBSOLETE: Anemia due to adenosine triphosphatase deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare constitutional hemolytic anemia due to an enzyme disorder' Class: http://www.orpha.net/ORDO/Orphanet_3243 Label(s): Sweet syndrome - 'Sweet syndrome' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' + 'Sweet syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_1034 Label(s): OBSOLETE: Amniotic bands - 'OBSOLETE: Amniotic bands' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' + 'OBSOLETE: Amniotic bands' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_1032 Label(s): OBSOLETE: Hyperdibasic aminoaciduria type 1 - 'OBSOLETE: Hyperdibasic aminoaciduria type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lysinuric protein intolerance' + 'OBSOLETE: Hyperdibasic aminoaciduria type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Lysinuric protein intolerance' Class: http://www.orpha.net/ORDO/Orphanet_138561 Label(s): methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Total spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'gene with protein product' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Total spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'has_chromosomal location' value "14q23.3" - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_159539 Label(s): coiled-coil and C2 domain containing 2A + 'coiled-coil and C2 domain containing 2A' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_3229 Label(s): OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome - 'OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic genetic deafness' + 'OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3228 Label(s): OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome - 'OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome' + 'OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1019 Label(s): Epstein syndrome - 'Epstein syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MYH9-related disease' + 'Epstein syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'MYH9-related disease' Class: http://www.orpha.net/ORDO/Orphanet_1011 Label(s): Alopecia-hypogonadism-extrapyramidal syndrome - 'Alopecia-hypogonadism-extrapyramidal syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Woodhouse-Sakati syndrome' + 'Alopecia-hypogonadism-extrapyramidal syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Woodhouse-Sakati syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99663 Label(s): OBSOLETE: Vestibular torticollis - 'OBSOLETE: Vestibular torticollis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Adult-onset cervical dystonia, DYT23 type' + 'OBSOLETE: Vestibular torticollis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Adult-onset cervical dystonia, DYT23 type' Class: http://www.orpha.net/ORDO/Orphanet_3215 Label(s): OBSOLETE: Deafness-white hair-contractures-papillomas syndrome - 'OBSOLETE: Deafness-white hair-contractures-papillomas syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic genetic deafness' + 'OBSOLETE: Deafness-white hair-contractures-papillomas syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3213 Label(s): Deafness-opticoacoustic nerve atrophy-dementia syndrome - 'Deafness-opticoacoustic nerve atrophy-dementia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Mohr-Tranebjaerg syndrome' + 'Deafness-opticoacoustic nerve atrophy-dementia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Mohr-Tranebjaerg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3212 Label(s): Autosomal dominant optic atrophy and congenital deafness - 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant optic atrophy plus syndrome' + 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal dominant optic atrophy plus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93973 Label(s): Carpenter-Waziri syndrome - 'Carpenter-Waziri syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' + 'Carpenter-Waziri syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_581 Label(s): Mucopolysaccharidosis type 3 + 'Mucopolysaccharidosis type 3' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_579 Label(s): Mucopolysaccharidosis type 1 + 'Mucopolysaccharidosis type 1' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_574 Label(s): Monosomy 21 - 'Monosomy 21' SubClassOf 'part_of' some 'Total autosomal monosomy' + 'Monosomy 21' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 21' Class: http://www.orpha.net/ORDO/Orphanet_1301 Label(s): Bronchiectasis-oligospermia syndrome - 'Bronchiectasis-oligospermia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Young syndrome' + 'Bronchiectasis-oligospermia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Young syndrome' Class: http://www.orpha.net/ORDO/Orphanet_562 Label(s): McCune-Albright syndrome - 'McCune-Albright syndrome' SubClassOf 'part_of' some 'Precocious puberty in female' + 'McCune-Albright syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_650187 Class: http://www.orpha.net/ORDO/Orphanet_103915 Label(s): OBSOLETE: Immunoproliferative small intestinal disease - 'OBSOLETE: Immunoproliferative small intestinal disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Alpha-heavy chain disease' + 'OBSOLETE: Immunoproliferative small intestinal disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Alpha-heavy chain disease' Class: http://www.orpha.net/ORDO/Orphanet_118766 Label(s): solute carrier family 19 member 3 - 'solute carrier family 19 member 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_102069 Label(s): OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis - 'OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary localized amyloidosis' + 'OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary localized amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_553 Label(s): Cushing syndrome - 'Cushing syndrome' SubClassOf 'Rare adrenal disease' - 'Cushing syndrome' SubClassOf 'group of disorders' + 'Cushing syndrome' SubClassOf 'obsolete group of disorder' + 'Cushing syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_641613 Class: http://www.orpha.net/ORDO/Orphanet_550 Label(s): MELAS + 'MELAS' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_63261 Label(s): HERNS syndrome - 'HERNS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' + 'HERNS syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_79644 Label(s): Autosomal recessive hyperinsulinism due to Kir6.2 deficiency + 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_511 Label(s): Maple syrup urine disease + 'Maple syrup urine disease' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_506 Label(s): Leigh syndrome - 'Leigh syndrome' SubClassOf 'Mitochondrial disease with epilepsy' - 'Leigh syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' - 'Leigh syndrome' SubClassOf 'Supranuclear eye movement disorder' - 'Leigh syndrome' SubClassOf 'Neurometabolic disease' - 'Leigh syndrome' SubClassOf 'group of disorders' - 'Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Leigh syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' + 'Leigh syndrome' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Leigh syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Leigh syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' + 'Leigh syndrome' SubClassOf 'disease' + 'Leigh syndrome' SubClassOf 'part_of' some 'Supranuclear eye movement disorder' + 'Leigh syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_324999 Label(s): JMP syndrome - 'JMP syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Proteasome-associated autoinflammatory syndrome' + 'JMP syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Proteasome-associated autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35688 Label(s): OBSOLETE: Madelung deformity - 'OBSOLETE: Madelung deformity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Léri-Weill dyschondrosteosis' + 'OBSOLETE: Madelung deformity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Léri-Weill dyschondrosteosis' Class: http://www.orpha.net/ORDO/Orphanet_2452 Label(s): OBSOLETE: Vascular malposition - 'OBSOLETE: Vascular malposition' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare congenital non-syndromic heart malformation' + 'OBSOLETE: Vascular malposition' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare congenital non-syndromic heart malformation' Class: http://www.orpha.net/ORDO/Orphanet_280914 Label(s): Idiopathic anterior uveitis - 'Idiopathic anterior uveitis' SubClassOf 'part_of' some 'Anterior uveitis' - 'Idiopathic anterior uveitis' SubClassOf 'disorder' - 'Idiopathic anterior uveitis' SubClassOf 'disease' + 'Idiopathic anterior uveitis' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_353241 Label(s): ATPase phospholipid transporting 11A + 'ATPase phospholipid transporting 11A' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_34521 Label(s): Distal myopathy with early respiratory muscle involvement - 'Distal myopathy with early respiratory muscle involvement' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hereditary myopathy with early respiratory failure' + 'Distal myopathy with early respiratory muscle involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hereditary myopathy with early respiratory failure' Class: http://www.orpha.net/ORDO/Orphanet_231256 Label(s): Beta-thalassemia-trichothiodystrophy syndrome - 'Beta-thalassemia-trichothiodystrophy syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' + 'Beta-thalassemia-trichothiodystrophy syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_123743 Label(s): NADH:ubiquinone oxidoreductase core subunit S8 - 'NADH:ubiquinone oxidoreductase core subunit S8' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_285396 Label(s): fuzzy planar cell polarity protein - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Total spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Cervical spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Cervicothoracic spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Lumbosacral spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Lumbosacral spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Cervicothoracic spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Upper thoracic spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Upper thoracic spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Cervical spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Total spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Thoracolumbosacral spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Thoracolumbosacral spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Arnold-Chiari malformation type II' Class: http://www.orpha.net/ORDO/Orphanet_123738 Label(s): NADH:ubiquinone oxidoreductase core subunit S7 - 'NADH:ubiquinone oxidoreductase core subunit S7' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_123733 Label(s): NADH:ubiquinone oxidoreductase subunit S4 - 'NADH:ubiquinone oxidoreductase subunit S4' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_123731 Label(s): NADH:ubiquinone oxidoreductase core subunit S3 - 'NADH:ubiquinone oxidoreductase core subunit S3' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_201531 Label(s): NADH:ubiquinone oxidoreductase complex assembly factor 3 - 'NADH:ubiquinone oxidoreductase complex assembly factor 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_123729 Label(s): NADH:ubiquinone oxidoreductase core subunit S2 - 'NADH:ubiquinone oxidoreductase core subunit S2' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'NADH:ubiquinone oxidoreductase core subunit S2' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_2204 Label(s): Dysplastic cortical hyperostosis - 'Dysplastic cortical hyperostosis' SubClassOf 'disorder' - 'Dysplastic cortical hyperostosis' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Dysplastic cortical hyperostosis' SubClassOf 'malformation syndrome' + 'Dysplastic cortical hyperostosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_646139 + 'Dysplastic cortical hyperostosis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_247854 Label(s): OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies - 'OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' + 'OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_85281 Label(s): OBSOLETE: MECP2 duplication syndrome - 'OBSOLETE: MECP2 duplication syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Proximal Xq28 duplication syndrome' + 'OBSOLETE: MECP2 duplication syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Proximal Xq28 duplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_205928 Label(s): decaprenyl diphosphate synthase subunit 2 - 'decaprenyl diphosphate synthase subunit 2' SubClassOf 'has_chromosomal location' value "6q21" - 'decaprenyl diphosphate synthase subunit 2' SubClassOf 'gene with protein product' - 'decaprenyl diphosphate synthase subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_51013 Label(s): OBSOLETE: Melanoma-pancreatic cancer syndrome - 'OBSOLETE: Melanoma-pancreatic cancer syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial atypical multiple mole melanoma syndrome' + 'OBSOLETE: Melanoma-pancreatic cancer syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial atypical multiple mole melanoma syndrome' Class: http://www.orpha.net/ORDO/Orphanet_324982 Label(s): OBSOLETE: Adult-onset SAPHO syndrome - 'OBSOLETE: Adult-onset SAPHO syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'SAPHO syndrome' + 'OBSOLETE: Adult-onset SAPHO syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'SAPHO syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2244 Label(s): Hypopituitarism-microphthalmia syndrome - 'Hypopituitarism-microphthalmia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' + 'Hypopituitarism-microphthalmia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_3197 Label(s): Hereditary hyperekplexia + 'Hereditary hyperekplexia' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_247815 Label(s): Autosomal recessive ataxia due to PEX10 deficiency + 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'part_of' some 'Peroxisomal disease' Class: http://www.orpha.net/ORDO/Orphanet_3188 Label(s): Congenital pulmonary veins atresia or stenosis - 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'disorder' - 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'part_of' some 'Rare disorder potentially indicated for lung transplant' - 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'part_of' some 'Respiratory malformation' - 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'Morphological anomaly' - 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'part_of' some 'Congenital anomaly of the great arteries' + 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'group of disorders' + 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'Rare disorder potentially indicated for lung transplant' + 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'Congenital pulmonary veins anomaly' + 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_609764 Label(s): dihydropyrimidinase like 5 + 'dihydropyrimidinase like 5' SubClassOf 'disease-causing germline mutation(s) in' some '3C syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2284 Label(s): OBSOLETE: Primary T cell immunodeficiency - 'OBSOLETE: Primary T cell immunodeficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary immunodeficiency due to a defect in adaptive immunity' + 'OBSOLETE: Primary T cell immunodeficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary immunodeficiency due to a defect in adaptive immunity' Class: http://www.orpha.net/ORDO/Orphanet_171634 Label(s): ALF transcription elongation factor 1 - 'ALF transcription elongation factor 1' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'ALF transcription elongation factor 1' SubClassOf 'part of a fusion gene in' some 'Mixed phenotype acute leukemia with t(v;11q23.3)' Class: http://www.orpha.net/ORDO/Orphanet_3123 Label(s): Brittle hair syndrome, Sabinas type - 'Brittle hair syndrome, Sabinas type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' + 'Brittle hair syndrome, Sabinas type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_85318 Label(s): OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome - 'OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_89839 Label(s): OBSOLETE: Epidermolysis bullosa simplex superficialis - 'OBSOLETE: Epidermolysis bullosa simplex superficialis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Epidermolysis bullosa simplex' + 'OBSOLETE: Epidermolysis bullosa simplex superficialis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Epidermolysis bullosa simplex' Class: http://www.orpha.net/ORDO/Orphanet_496 Label(s): Thost-Unna palmoplantar keratoderma - 'Thost-Unna palmoplantar keratoderma' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Epidermolytic palmoplantar keratoderma' + 'Thost-Unna palmoplantar keratoderma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Epidermolytic palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_3118 Label(s): Rudiger syndrome - 'Rudiger syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Schinzel-Giedion syndrome' + 'Rudiger syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Schinzel-Giedion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295234 Label(s): OBSOLETE: Congenital patella dislocation, unilateral - 'OBSOLETE: Congenital patella dislocation, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital patella dislocation' + 'OBSOLETE: Congenital patella dislocation, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital patella dislocation' Class: http://www.orpha.net/ORDO/Orphanet_295223 Label(s): OBSOLETE: Madelung deformity, bilateral - 'OBSOLETE: Madelung deformity, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Léri-Weill dyschondrosteosis' + 'OBSOLETE: Madelung deformity, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Léri-Weill dyschondrosteosis' Class: http://www.orpha.net/ORDO/Orphanet_295221 Label(s): OBSOLETE: Madelung deformity, unilateral - 'OBSOLETE: Madelung deformity, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Léri-Weill dyschondrosteosis' + 'OBSOLETE: Madelung deformity, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Léri-Weill dyschondrosteosis' Class: http://www.orpha.net/ORDO/Orphanet_299630 Label(s): phosphodiesterase 4D - 'phosphodiesterase 4D' SubClassOf 'disease-causing germline mutation(s) in' some 'Acrodysostosis with multiple hormone resistance' Class: http://www.orpha.net/ORDO/Orphanet_97342 Label(s): OBSOLETE: Argyrophilic grain disease - 'OBSOLETE: Argyrophilic grain disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neurodegenerative disease with dementia' + 'OBSOLETE: Argyrophilic grain disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_295211 Label(s): OBSOLETE: Humero-radial synostosis, bilateral - 'OBSOLETE: Humero-radial synostosis, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humero-radial synostosis' + 'OBSOLETE: Humero-radial synostosis, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Humero-radial synostosis' Class: http://www.orpha.net/ORDO/Orphanet_295209 Label(s): OBSOLETE: Humero-radial synostosis, unilateral - 'OBSOLETE: Humero-radial synostosis, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humero-radial synostosis' + 'OBSOLETE: Humero-radial synostosis, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Humero-radial synostosis' Class: http://www.orpha.net/ORDO/Orphanet_138066 Label(s): OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies - 'OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disease with Pierre Robin syndrome' + 'OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disease with Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138063 Label(s): OBSOLETE: Syndrome associated with Pierre Robin syndrome - 'OBSOLETE: Syndrome associated with Pierre Robin syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disease with Pierre Robin syndrome' + 'OBSOLETE: Syndrome associated with Pierre Robin syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disease with Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_453 Label(s): IBIDS syndrome - 'IBIDS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' + 'IBIDS syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_440 Label(s): OBSOLETE: Familial hypospadias - 'OBSOLETE: Familial hypospadias' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic posterior hypospadias' + 'OBSOLETE: Familial hypospadias' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic posterior hypospadias' Class: http://www.orpha.net/ORDO/Orphanet_435 Label(s): OBSOLETE: Ito hypomelanosis - 'OBSOLETE: Ito hypomelanosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hypopigmentation of the skin' + 'OBSOLETE: Ito hypomelanosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hypopigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_431 Label(s): Ichthyosis-male hypogonadism syndrome - 'Ichthyosis-male hypogonadism syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Xp22.3 microdeletion syndrome' + 'Ichthyosis-male hypogonadism syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Xp22.3 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_430 Label(s): OBSOLETE: Hypodermyiasis - 'OBSOLETE: Hypodermyiasis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Creeping myiasis' + 'OBSOLETE: Hypodermyiasis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Creeping myiasis' Class: http://www.orpha.net/ORDO/Orphanet_123621 Label(s): myosin heavy chain 7 - 'myosin heavy chain 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Myosin storage myopathy' - 'myosin heavy chain 7' SubClassOf 'disease-causing germline mutation(s) in' some 'MYH7-related late-onset scapuloperoneal muscular dystrophy' + 'myosin heavy chain 7' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_636970 + 'myosin heavy chain 7' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_636965 Class: http://www.orpha.net/ORDO/Orphanet_218036 Label(s): calcium activated nucleotidase 1 + 'calcium activated nucleotidase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_647676 Class: http://www.orpha.net/ORDO/Orphanet_411 Label(s): Hyperlipoproteinemia type 1 - 'Hyperlipoproteinemia type 1' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Familial chylomicronemia syndrome' + 'Hyperlipoproteinemia type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Familial chylomicronemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_265457 Label(s): NADH:ubiquinone oxidoreductase subunit A10 - 'NADH:ubiquinone oxidoreductase subunit A10' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' - 'NADH:ubiquinone oxidoreductase subunit A10' SubClassOf 'has_chromosomal location' value "2q37.3" - 'NADH:ubiquinone oxidoreductase subunit A10' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_407 Label(s): Glycine encephalopathy + 'Glycine encephalopathy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_470616 Label(s): lysyl oxidase like 3 - 'lysyl oxidase like 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' - 'lysyl oxidase like 3' SubClassOf 'has_chromosomal location' value "2p13.1" - 'lysyl oxidase like 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_85289 Label(s): X-linked intellectual disability, Vitale type - 'X-linked intellectual disability, Vitale type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'X-linked intellectual disability, Cabezas type' + 'X-linked intellectual disability, Vitale type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'X-linked intellectual disability, Cabezas type' Class: http://www.orpha.net/ORDO/Orphanet_157855 Label(s): HARP syndrome - 'HARP syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Classic pantothenate kinase-associated neurodegeneration' + 'HARP syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Classic pantothenate kinase-associated neurodegeneration' Class: http://www.orpha.net/ORDO/Orphanet_85291 Label(s): X-linked intellectual disability, Wittwer type - 'X-linked intellectual disability, Wittwer type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Wolf-Hirschhorn syndrome' + 'X-linked intellectual disability, Wittwer type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Wolf-Hirschhorn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_247846 Label(s): OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies - 'OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Oligoarticular juvenile idiopathic arthritis' + 'OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Oligoarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_31142 Label(s): Oral erosive lichen - 'Oral erosive lichen' SubClassOf 'disorder' - 'Oral erosive lichen' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Oral erosive lichen' SubClassOf 'disease' + 'Oral erosive lichen' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_63260 Label(s): Craniorachischisis - 'Craniorachischisis' SubClassOf 'part_of' some 'Neural tube closure defect' + 'Craniorachischisis' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_94084 Label(s): Cerebro-oculo-facial-lymphatic syndrome - 'Cerebro-oculo-facial-lymphatic syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Baraitser-Winter cerebrofrontofacial syndrome' + 'Cerebro-oculo-facial-lymphatic syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Baraitser-Winter cerebrofrontofacial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121878 Label(s): fragile X messenger ribonucleoprotein 1 + 'fragile X messenger ribonucleoprotein 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642691 Class: http://www.orpha.net/ORDO/Orphanet_437572 Label(s): MYH7-related late-onset scapuloperoneal muscular dystrophy - 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' - 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf 'disorder' - 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf 'disease' - 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf 'part_of' some 'Late-onset scapuloperoneal muscular dystrophy with hyaline bodies' + 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_636965 + 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_247861 Label(s): OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies - 'OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' + 'OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_231205 Label(s): OBSOLETE: Common variable immunodeficiency without known genetic defect - 'OBSOLETE: Common variable immunodeficiency without known genetic defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Common variable immunodeficiency' + 'OBSOLETE: Common variable immunodeficiency without known genetic defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_178330 Label(s): OBSOLETE: Heinz body anemia - 'OBSOLETE: Heinz body anemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hemolytic anemia' + 'OBSOLETE: Heinz body anemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare hemolytic anemia' Class: http://www.orpha.net/ORDO/Orphanet_118174 Label(s): peroxisomal biogenesis factor 2 + 'peroxisomal biogenesis factor 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642965 Class: http://www.orpha.net/ORDO/Orphanet_602226 Label(s): metaxin 2 - 'metaxin 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Mandibuloacral dysplasia with type A lipodystrophy' + 'metaxin 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_647667 Class: http://www.orpha.net/ORDO/Orphanet_85196 Label(s): Nodulosis-arthropathy-osteolysis syndrome - 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' + 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_50920 Label(s): OBSOLETE: Multiple fibroadenoma of the breast - 'OBSOLETE: Multiple fibroadenoma of the breast' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare benign breast tumor' + 'OBSOLETE: Multiple fibroadenoma of the breast' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare benign breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_169910 Label(s): phosphodiesterase 11A - 'phosphodiesterase 11A' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' Class: http://www.orpha.net/ORDO/Orphanet_310043 Label(s): tectonic family member 3 + 'tectonic family member 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2352 Label(s): Kozlowski-Brown-Hardwick syndrome - 'Kozlowski-Brown-Hardwick syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Shprintzen-Goldberg syndrome' + 'Kozlowski-Brown-Hardwick syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Shprintzen-Goldberg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171714 Label(s): Amish infantile epilepsy syndrome - 'Amish infantile epilepsy syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'GM3 synthase deficiency' + 'Amish infantile epilepsy syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'GM3 synthase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_295185 Label(s): OBSOLETE: Central polydactyly of toes, bilateral - 'OBSOLETE: Central polydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central polydactyly' + 'OBSOLETE: Central polydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Central polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_3062 Label(s): OBSOLETE: X-linked intellectual disability, Schutz type - 'OBSOLETE: X-linked intellectual disability, Schutz type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked non-syndromic intellectual disability' + 'OBSOLETE: X-linked intellectual disability, Schutz type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295183 Label(s): OBSOLETE: Central polydactyly of toes, unilateral - 'OBSOLETE: Central polydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central polydactyly' + 'OBSOLETE: Central polydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Central polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_295181 Label(s): OBSOLETE: Postaxial polydactyly of toes, bilateral - 'OBSOLETE: Postaxial polydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic postaxial polydactyly' + 'OBSOLETE: Postaxial polydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic postaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_3059 Label(s): X-linked intellectual disability, Gu type - 'X-linked intellectual disability, Gu type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'X-linked intellectual disability-short stature-overweight syndrome' + 'X-linked intellectual disability, Gu type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'X-linked intellectual disability-short stature-overweight syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295179 Label(s): OBSOLETE: Postaxial polydactyly of toes, unilateral - 'OBSOLETE: Postaxial polydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic postaxial polydactyly' + 'OBSOLETE: Postaxial polydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic postaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_295177 Label(s): OBSOLETE: Preaxial polydactyly of toes, bilateral - 'OBSOLETE: Preaxial polydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic preaxial polydactyly' + 'OBSOLETE: Preaxial polydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_295175 Label(s): OBSOLETE: Preaxial polydactyly of toes, unilateral - 'OBSOLETE: Preaxial polydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic preaxial polydactyly' + 'OBSOLETE: Preaxial polydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_295173 Label(s): OBSOLETE: Central polydactyly of fingers, bilateral - 'OBSOLETE: Central polydactyly of fingers, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central polydactyly' + 'OBSOLETE: Central polydactyly of fingers, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Central polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_3050 Label(s): OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome - 'OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295171 Label(s): OBSOLETE: Central polydactyly of fingers, unilateral - 'OBSOLETE: Central polydactyly of fingers, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central polydactyly' + 'OBSOLETE: Central polydactyly of fingers, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Central polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_97295 Label(s): Furlong syndrome - 'Furlong syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Loeys-Dietz syndrome' + 'Furlong syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Loeys-Dietz syndrome' Class: http://www.orpha.net/ORDO/Orphanet_213524 Label(s): Hereditary site-specific ovarian cancer syndrome - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'part_of' some 'Familial ovarian cancer' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'disease' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'part_of' some 'Rare genetic gynecological and obstetrical diseases' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'disorder' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'deprecated disorder' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hereditary breast and ovarian cancer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137923 Label(s): OBSOLETE: Cervicofacial lymphatic malformation - 'OBSOLETE: Cervicofacial lymphatic malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare lymphatic malformation' + 'OBSOLETE: Cervicofacial lymphatic malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_295169 Label(s): OBSOLETE: Postaxial polydactyly type B, bilateral - 'OBSOLETE: Postaxial polydactyly type B, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Postaxial polydactyly type B' + 'OBSOLETE: Postaxial polydactyly type B, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Postaxial polydactyly type B' Class: http://www.orpha.net/ORDO/Orphanet_295167 Label(s): OBSOLETE: Postaxial polydactyly type B, unilateral - 'OBSOLETE: Postaxial polydactyly type B, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Postaxial polydactyly type B' + 'OBSOLETE: Postaxial polydactyly type B, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Postaxial polydactyly type B' Class: http://www.orpha.net/ORDO/Orphanet_295165 Label(s): OBSOLETE: Postaxial polydactyly type A, bilateral - 'OBSOLETE: Postaxial polydactyly type A, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Postaxial polydactyly type A' + 'OBSOLETE: Postaxial polydactyly type A, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Postaxial polydactyly type A' Class: http://www.orpha.net/ORDO/Orphanet_295163 Label(s): OBSOLETE: Postaxial polydactyly type A, unilateral - 'OBSOLETE: Postaxial polydactyly type A, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Postaxial polydactyly type A' + 'OBSOLETE: Postaxial polydactyly type A, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Postaxial polydactyly type A' Class: http://www.orpha.net/ORDO/Orphanet_295161 Label(s): OBSOLETE: Polysyndactyly, bilateral - 'OBSOLETE: Polysyndactyly, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polysyndactyly' + 'OBSOLETE: Polysyndactyly, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Polysyndactyly' Class: http://www.orpha.net/ORDO/Orphanet_137911 Label(s): Autism-facial port-wine stain syndrome - 'Autism-facial port-wine stain syndrome' SubClassOf 'disorder' - 'Autism-facial port-wine stain syndrome' SubClassOf 'malformation syndrome' - 'Autism-facial port-wine stain syndrome' SubClassOf 'part_of' some 'Rare disease with autism' + 'Autism-facial port-wine stain syndrome' SubClassOf 'deprecated disorder' + 'Autism-facial port-wine stain syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Sturge-Weber syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295159 Label(s): OBSOLETE: Polysyndactyly, unilateral - 'OBSOLETE: Polysyndactyly, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polysyndactyly' + 'OBSOLETE: Polysyndactyly, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Polysyndactyly' Class: http://www.orpha.net/ORDO/Orphanet_295154 Label(s): OBSOLETE: Polydactyly of an index finger, bilateral - 'OBSOLETE: Polydactyly of an index finger, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of an index finger' + 'OBSOLETE: Polydactyly of an index finger, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Polydactyly of an index finger' Class: http://www.orpha.net/ORDO/Orphanet_295152 Label(s): OBSOLETE: Polydactyly of an index finger, unilateral - 'OBSOLETE: Polydactyly of an index finger, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of an index finger' + 'OBSOLETE: Polydactyly of an index finger, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Polydactyly of an index finger' Class: http://www.orpha.net/ORDO/Orphanet_295150 Label(s): OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral - 'OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of a triphalangeal thumb' + 'OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Polydactyly of a triphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_137902 Label(s): Isolated optic nerve hypoplasia/aplasia - 'Isolated optic nerve hypoplasia/aplasia' SubClassOf 'part_of' some 'Genetic developmental defect of the eye' - 'Isolated optic nerve hypoplasia/aplasia' SubClassOf 'part_of' some 'Rare optic nerve disorder' - 'Isolated optic nerve hypoplasia/aplasia' SubClassOf 'disorder' - 'Isolated optic nerve hypoplasia/aplasia' SubClassOf 'part_of' some 'Rare genetic optic nerve disorder' - 'Isolated optic nerve hypoplasia/aplasia' SubClassOf 'Morphological anomaly' - 'Isolated optic nerve hypoplasia/aplasia' SubClassOf 'part_of' some 'Developmental defect of the eye' + 'Isolated optic nerve hypoplasia/aplasia' SubClassOf 'obsolete disorder' + 'Isolated optic nerve hypoplasia/aplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_637061 Class: http://www.orpha.net/ORDO/Orphanet_295148 Label(s): OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral - 'OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of a triphalangeal thumb' + 'OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Polydactyly of a triphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_295146 Label(s): OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral - 'OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of a biphalangeal thumb' + 'OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Polydactyly of a biphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_295144 Label(s): OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral - 'OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of a biphalangeal thumb' + 'OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Polydactyly of a biphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_295142 Label(s): OBSOLETE: Hyperphalangy, bilateral - 'OBSOLETE: Hyperphalangy, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hyperphalangy' + 'OBSOLETE: Hyperphalangy, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_295140 Label(s): OBSOLETE: Hyperphalangy, unilateral - 'OBSOLETE: Hyperphalangy, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hyperphalangy' + 'OBSOLETE: Hyperphalangy, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_295138 Label(s): OBSOLETE: Symbrachydactyly of hand and foot, bilateral - 'OBSOLETE: Symbrachydactyly of hand and foot, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' + 'OBSOLETE: Symbrachydactyly of hand and foot, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_295136 Label(s): OBSOLETE: Symbrachydactyly of hand and foot, unilateral - 'OBSOLETE: Symbrachydactyly of hand and foot, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' + 'OBSOLETE: Symbrachydactyly of hand and foot, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_3013 Label(s): Radiculomegaly of canine teeth- congenital cataract - 'Radiculomegaly of canine teeth- congenital cataract' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Oculofaciocardiodental syndrome' + 'Radiculomegaly of canine teeth- congenital cataract' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Oculofaciocardiodental syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295134 Label(s): OBSOLETE: Brachydactyly of toes, bilateral - 'OBSOLETE: Brachydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' + 'OBSOLETE: Brachydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_295132 Label(s): OBSOLETE: Brachydactyly of toes, unilateral - 'OBSOLETE: Brachydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' + 'OBSOLETE: Brachydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_295130 Label(s): OBSOLETE: Brachydactyly of fingers, bilateral - 'OBSOLETE: Brachydactyly of fingers, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' + 'OBSOLETE: Brachydactyly of fingers, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_383 Label(s): X-linked mixed deafness with perilymphatic gusher - 'X-linked mixed deafness with perilymphatic gusher' SubClassOf http://www.orpha.net/ORDO/moved_to some 'X-linked non-syndromic sensorineural deafness type DFN' + 'X-linked mixed deafness with perilymphatic gusher' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'X-linked non-syndromic sensorineural deafness type DFN' Class: http://www.orpha.net/ORDO/Orphanet_381 Label(s): Griscelli syndrome + 'Griscelli syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295128 Label(s): OBSOLETE: Brachydactyly of fingers, unilateral - 'OBSOLETE: Brachydactyly of fingers, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' + 'OBSOLETE: Brachydactyly of fingers, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_295126 Label(s): OBSOLETE: Split foot, bilateral - 'OBSOLETE: Split foot, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' + 'OBSOLETE: Split foot, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_295124 Label(s): OBSOLETE: Split foot, unilateral - 'OBSOLETE: Split foot, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' + 'OBSOLETE: Split foot, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_295122 Label(s): OBSOLETE: Split hand, bilateral - 'OBSOLETE: Split hand, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' + 'OBSOLETE: Split hand, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_295120 Label(s): OBSOLETE: Split hand, unilateral - 'OBSOLETE: Split hand, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' + 'OBSOLETE: Split hand, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_374 Label(s): Goldenhar syndrome - 'Goldenhar syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Oculo-auriculo-vertebral spectrum' + 'Goldenhar syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Oculo-auriculo-vertebral spectrum' Class: http://www.orpha.net/ORDO/Orphanet_295118 Label(s): OBSOLETE: Adactyly of foot, bilateral - 'OBSOLETE: Adactyly of foot, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' + 'OBSOLETE: Adactyly of foot, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_295116 Label(s): OBSOLETE: Adactyly of foot, unilateral - 'OBSOLETE: Adactyly of foot, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' + 'OBSOLETE: Adactyly of foot, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_295114 Label(s): OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral - 'OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' + 'OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_295112 Label(s): OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral - 'OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital hypoplasia of thumb' + 'OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital hypoplasia of thumb' Class: http://www.orpha.net/ORDO/Orphanet_295110 Label(s): OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral - 'OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital hypoplasia of thumb' + 'OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital hypoplasia of thumb' Class: http://www.orpha.net/ORDO/Orphanet_97231 Label(s): Ligneous conjunctivitis - 'Ligneous conjunctivitis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hypoplasminogenemia' + 'Ligneous conjunctivitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hypoplasminogenemia' Class: http://www.orpha.net/ORDO/Orphanet_295107 Label(s): OBSOLETE: Apodia, bilateral - 'OBSOLETE: Apodia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Apodia' + 'OBSOLETE: Apodia, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Apodia' Class: http://www.orpha.net/ORDO/Orphanet_99649 Label(s): OBSOLETE: Generalized epilepsy and praxis-induced seizures - 'OBSOLETE: Generalized epilepsy and praxis-induced seizures' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Thinking seizures' + 'OBSOLETE: Generalized epilepsy and praxis-induced seizures' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Thinking seizures' Class: http://www.orpha.net/ORDO/Orphanet_295105 Label(s): OBSOLETE: Apodia, unilateral - 'OBSOLETE: Apodia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Apodia' + 'OBSOLETE: Apodia, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Apodia' Class: http://www.orpha.net/ORDO/Orphanet_295103 Label(s): OBSOLETE: Acheiria, bilateral - 'OBSOLETE: Acheiria, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acheiria' + 'OBSOLETE: Acheiria, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acheiria' Class: http://www.orpha.net/ORDO/Orphanet_65283 Label(s): Timothy syndrome + 'Timothy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295101 Label(s): OBSOLETE: Acheiria, unilateral - 'OBSOLETE: Acheiria, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acheiria' + 'OBSOLETE: Acheiria, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acheiria' Class: http://www.orpha.net/ORDO/Orphanet_459530 Label(s): OBSOLETE: Genetic primary lymphedema - 'OBSOLETE: Genetic primary lymphedema' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary lymphedema' + 'OBSOLETE: Genetic primary lymphedema' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_354 Label(s): GM1 gangliosidosis + 'GM1 gangliosidosis' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_65279 Label(s): OBSOLETE: Lymphocytic colitis - 'OBSOLETE: Lymphocytic colitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inflammatory bowel disease' + 'OBSOLETE: Lymphocytic colitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_123414 Label(s): hemojuvelin BMP co-receptor + 'hemojuvelin BMP co-receptor' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_648581 Class: http://www.orpha.net/ORDO/Orphanet_1339 Label(s): OBSOLETE: Cranioacrofacial syndrome - 'OBSOLETE: Cranioacrofacial syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'OBSOLETE: Cranioacrofacial syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85333 Label(s): X-linked intellectual disability-spastic paraplegia with iron deposits syndrome - 'X-linked intellectual disability-spastic paraplegia with iron deposits syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pelizaeus-Merzbacher disease' + 'X-linked intellectual disability-spastic paraplegia with iron deposits syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Pelizaeus-Merzbacher disease' Class: http://www.orpha.net/ORDO/Orphanet_85337 Label(s): X-linked intellectual disability, Zorick type - 'X-linked intellectual disability, Zorick type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Allan-Herndon-Dudley syndrome' + 'X-linked intellectual disability, Zorick type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Allan-Herndon-Dudley syndrome' Class: http://www.orpha.net/ORDO/Orphanet_338 Label(s): Familial multiple fibrofolliculoma - 'Familial multiple fibrofolliculoma' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Birt-Hogg-Dubé syndrome' + 'Familial multiple fibrofolliculoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Birt-Hogg-Dubé syndrome' Class: http://www.orpha.net/ORDO/Orphanet_157788 Label(s): Hypospadias-hypertelorism-coloboma and deafness syndrome - 'Hypospadias-hypertelorism-coloboma and deafness syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Branchioskeletogenital syndrome' + 'Hypospadias-hypertelorism-coloboma and deafness syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Branchioskeletogenital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240917 Label(s): OBSOLETE: Vecuronium toxicity - 'OBSOLETE: Vecuronium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Vecuronium toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_99694 Label(s): Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome - 'Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' + 'Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1434 Label(s): OBSOLETE: Choroideremia-hypopituitarism syndrome - 'OBSOLETE: Choroideremia-hypopituitarism syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xq21 microdeletion syndrome' + 'OBSOLETE: Choroideremia-hypopituitarism syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Xq21 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3313 Label(s): OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome - 'OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1739 Label(s): OBSOLETE: Duplication 4q - 'OBSOLETE: Duplication 4q' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Partial duplication of the long arm of chromosome 4' + 'OBSOLETE: Duplication 4q' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Partial duplication of the long arm of chromosome 4' Class: http://www.orpha.net/ORDO/Orphanet_231537 Label(s): Hermansky-Pudlak syndrome type 8 - 'Hermansky-Pudlak syndrome type 8' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hermansky-Pudlak syndrome due to BLOC-1 deficiency' + 'Hermansky-Pudlak syndrome type 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hermansky-Pudlak syndrome due to BLOC-1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_250977 Label(s): AICA-ribosiduria - 'AICA-ribosiduria' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'AICA-ribosiduria' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'AICA-ribosiduria' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2981 Label(s): Pseudo-Zellweger syndrome - 'Pseudo-Zellweger syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Bifunctional enzyme deficiency' + 'Pseudo-Zellweger syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Bifunctional enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_160053 Label(s): apolipoprotein C3 - 'apolipoprotein C3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Cholesterol-ester transfer protein deficiency' - 'apolipoprotein C3' SubClassOf 'gene with protein product' - 'apolipoprotein C3' SubClassOf 'has_chromosomal location' value "11q23.3" Class: http://www.orpha.net/ORDO/Orphanet_1530 Label(s): OBSOLETE: Craniosynostosis-cataract syndrome - 'OBSOLETE: Craniosynostosis-cataract syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic craniosynostosis' + 'OBSOLETE: Craniosynostosis-cataract syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_37629 Label(s): Neonatal neutropenia - 'Neonatal neutropenia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Severe congenital neutropenia' + 'Neonatal neutropenia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_2573 Label(s): Moyamoya disease + 'Moyamoya disease' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2950 Label(s): Triphalangeal thumb-polysyndactyly syndrome - 'Triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' + 'Triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1877 Label(s): Muscular dystrophy-white matter spongiosis syndrome - 'Muscular dystrophy-white matter spongiosis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Laminin subunit alpha 2-related congenital muscular dystrophy' + 'Muscular dystrophy-white matter spongiosis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Laminin subunit alpha 2-related congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_63259 Label(s): Iniencephaly - 'Iniencephaly' SubClassOf 'part_of' some 'Neural tube closure defect' + 'Iniencephaly' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_123529 Label(s): methylenetetrahydrofolate reductase - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Total spina bifida aperta' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida cystica' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Total spina bifida cystica' - 'methylenetetrahydrofolate reductase' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_490384 Label(s): seryl-tRNA synthetase 1 + 'seryl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_241045 Label(s): OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation - 'OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_241041 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment - 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of phenytoin or carbamazepine toxicity' + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_2925 Label(s): OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome - 'OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polymicrogyria' + 'OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_241039 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phenytoin treatment - 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phenytoin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of phenytoin or carbamazepine toxicity' + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phenytoin treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241037 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment - 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of phenytoin or carbamazepine toxicity' + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241031 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to satracurium treatment - 'OBSOLETE: Susceptibility to prolonged paralysis due to satracurium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Susceptibility to prolonged paralysis due to satracurium treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_1492 Label(s): OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome - 'OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_241029 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to rocuronium treatment - 'OBSOLETE: Susceptibility to prolonged paralysis due to rocuronium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Susceptibility to prolonged paralysis due to rocuronium treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241027 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to pancuronium treatment - 'OBSOLETE: Susceptibility to prolonged paralysis due to pancuronium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Susceptibility to prolonged paralysis due to pancuronium treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241025 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to mivacurium treatment - 'OBSOLETE: Susceptibility to prolonged paralysis due to mivacurium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Susceptibility to prolonged paralysis due to mivacurium treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241021 Label(s): OBSOLETE: Susceptibility to neutropenia due to mercaptopurine treatment - 'OBSOLETE: Susceptibility to neutropenia due to mercaptopurine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Susceptibility to neutropenia due to mercaptopurine treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_50816 Label(s): Spondylometaphyseal dysplasia with combined immunodeficiency - 'Spondylometaphyseal dysplasia with combined immunodeficiency' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Spondyloenchondrodysplasia' + 'Spondylometaphyseal dysplasia with combined immunodeficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Spondyloenchondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_530647 Label(s): nucleoporin 37 + 'nucleoporin 37' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_241019 Label(s): OBSOLETE: Susceptibility to neutropenia due to azathioprine treatment - 'OBSOLETE: Susceptibility to neutropenia due to azathioprine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Susceptibility to neutropenia due to azathioprine treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_241015 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to glipizide treatment - 'OBSOLETE: Susceptibility to hypoglycemia due to glipizide treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Susceptibility to hypoglycemia due to glipizide treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_241013 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to glimepiride treatment - 'OBSOLETE: Susceptibility to hypoglycemia due to glimepiride treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Susceptibility to hypoglycemia due to glimepiride treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_241011 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to gliclazide treatment - 'OBSOLETE: Susceptibility to hypoglycemia due to gliclazide treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Susceptibility to hypoglycemia due to gliclazide treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_241007 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to carbutamide treatment - 'OBSOLETE: Susceptibility to hypoglycemia due to carbutamide treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Susceptibility to hypoglycemia due to carbutamide treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_137871 Label(s): OBSOLETE: Laminopathy type Decaudain-Vigouroux - 'OBSOLETE: Laminopathy type Decaudain-Vigouroux' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial partial lipodystrophy, Dunnigan type' + 'OBSOLETE: Laminopathy type Decaudain-Vigouroux' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial partial lipodystrophy, Dunnigan type' Class: http://www.orpha.net/ORDO/Orphanet_241003 Label(s): OBSOLETE: Susceptibility to hepatitis due to voriconazole treatment - 'OBSOLETE: Susceptibility to hepatitis due to voriconazole treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to hepatitis due to voriconazole treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_241001 Label(s): OBSOLETE: Susceptibility to hepatitis due to flucloxacilline treatment - 'OBSOLETE: Susceptibility to hepatitis due to flucloxacilline treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of flucloxacilline toxicity' + 'OBSOLETE: Susceptibility to hepatitis due to flucloxacilline treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of flucloxacilline toxicity' Class: http://www.orpha.net/ORDO/Orphanet_137862 Label(s): Martínez-Frías syndrome - 'Martínez-Frías syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' + 'Martínez-Frías syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119068 Label(s): BRCA1 DNA repair associated - 'BRCA1 DNA repair associated' SubClassOf 'major susceptibility factor in' some 'Hereditary site-specific ovarian cancer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295099 Label(s): OBSOLETE: Congenital absence of both lower leg and foot, bilateral - 'OBSOLETE: Congenital absence of both lower leg and foot, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of both lower leg and foot' + 'OBSOLETE: Congenital absence of both lower leg and foot, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital absence of both lower leg and foot' Class: http://www.orpha.net/ORDO/Orphanet_295097 Label(s): OBSOLETE: Congenital absence of both lower leg and foot, unilateral - 'OBSOLETE: Congenital absence of both lower leg and foot, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of both lower leg and foot' + 'OBSOLETE: Congenital absence of both lower leg and foot, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital absence of both lower leg and foot' Class: http://www.orpha.net/ORDO/Orphanet_295095 Label(s): OBSOLETE: Congenital absence of both forearm and hand, bilateral - 'OBSOLETE: Congenital absence of both forearm and hand, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of both forearm and hand' + 'OBSOLETE: Congenital absence of both forearm and hand, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital absence of both forearm and hand' Class: http://www.orpha.net/ORDO/Orphanet_295093 Label(s): OBSOLETE: Congenital absence of both forearm and hand, unilateral - 'OBSOLETE: Congenital absence of both forearm and hand, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of both forearm and hand' + 'OBSOLETE: Congenital absence of both forearm and hand, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital absence of both forearm and hand' Class: http://www.orpha.net/ORDO/Orphanet_295091 Label(s): OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral - 'OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of thigh and lower leg with foot present' + 'OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital absence of thigh and lower leg with foot present' Class: http://www.orpha.net/ORDO/Orphanet_295089 Label(s): OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral - 'OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of thigh and lower leg with foot present' + 'OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital absence of thigh and lower leg with foot present' Class: http://www.orpha.net/ORDO/Orphanet_295087 Label(s): OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral - 'OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of upper arm and forearm with hand present' + 'OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital absence of upper arm and forearm with hand present' Class: http://www.orpha.net/ORDO/Orphanet_295083 Label(s): OBSOLETE: Fibular hemimelia, bilateral - 'OBSOLETE: Fibular hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Fibular hemimelia' + 'OBSOLETE: Fibular hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Fibular hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295081 Label(s): OBSOLETE: Fibular hemimelia, unilateral - 'OBSOLETE: Fibular hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Fibular hemimelia' + 'OBSOLETE: Fibular hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Fibular hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295079 Label(s): OBSOLETE: Tibial hemimelia, bilateral - 'OBSOLETE: Tibial hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Tibial hemimelia' + 'OBSOLETE: Tibial hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Tibial hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295077 Label(s): OBSOLETE: Tibial hemimelia, unilateral - 'OBSOLETE: Tibial hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Tibial hemimelia' + 'OBSOLETE: Tibial hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Tibial hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295075 Label(s): OBSOLETE: Ulnar hemimelia, unilateral - 'OBSOLETE: Ulnar hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ulnar hemimelia' + 'OBSOLETE: Ulnar hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Ulnar hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295073 Label(s): OBSOLETE: Ulnar hemimelia, bilateral - 'OBSOLETE: Ulnar hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ulnar hemimelia' + 'OBSOLETE: Ulnar hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Ulnar hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295071 Label(s): OBSOLETE: Radial hemimelia, bilateral - 'OBSOLETE: Radial hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Radial hemimelia' + 'OBSOLETE: Radial hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Radial hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_138847 Label(s): cartilage associated protein + 'cartilage associated protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Cole-Carpenter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295069 Label(s): OBSOLETE: Radial hemimelia, unilateral - 'OBSOLETE: Radial hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Radial hemimelia' + 'OBSOLETE: Radial hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Radial hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295067 Label(s): OBSOLETE: Femoral agenesis/hypoplasia, bilateral - 'OBSOLETE: Femoral agenesis/hypoplasia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Femoral agenesis/hypoplasia' + 'OBSOLETE: Femoral agenesis/hypoplasia, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Femoral agenesis/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_295065 Label(s): OBSOLETE: Femoral agenesis/hypoplasia, unilateral - 'OBSOLETE: Femoral agenesis/hypoplasia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Femoral agenesis/hypoplasia' + 'OBSOLETE: Femoral agenesis/hypoplasia, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Femoral agenesis/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_295063 Label(s): OBSOLETE: Humeral agenesis/hypoplasia, bilateral - 'OBSOLETE: Humeral agenesis/hypoplasia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humeral agenesis/hypoplasia' + 'OBSOLETE: Humeral agenesis/hypoplasia, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Humeral agenesis/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_295061 Label(s): OBSOLETE: Humeral agenesis/hypoplasia, unilateral - 'OBSOLETE: Humeral agenesis/hypoplasia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humeral agenesis/hypoplasia' + 'OBSOLETE: Humeral agenesis/hypoplasia, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Humeral agenesis/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_295059 Label(s): OBSOLETE: Amelia of lower limb, bilateral - 'OBSOLETE: Amelia of lower limb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Amelia of lower limb' + 'OBSOLETE: Amelia of lower limb, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Amelia of lower limb' Class: http://www.orpha.net/ORDO/Orphanet_295057 Label(s): OBSOLETE: Amelia of lower limb, unilateral - 'OBSOLETE: Amelia of lower limb, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Amelia of lower limb' + 'OBSOLETE: Amelia of lower limb, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Amelia of lower limb' Class: http://www.orpha.net/ORDO/Orphanet_295055 Label(s): OBSOLETE: Amelia of upper limb, bilateral - 'OBSOLETE: Amelia of upper limb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Amelia of upper limb' + 'OBSOLETE: Amelia of upper limb, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Amelia of upper limb' Class: http://www.orpha.net/ORDO/Orphanet_295053 Label(s): OBSOLETE: Amelia of upper limb, unilateral - 'OBSOLETE: Amelia of upper limb, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Amelia of upper limb' + 'OBSOLETE: Amelia of upper limb, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Amelia of upper limb' Class: http://www.orpha.net/ORDO/Orphanet_295041 Label(s): OBSOLETE: Patella aplasia/hypoplasia, bilateral - 'OBSOLETE: Patella aplasia/hypoplasia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Patella aplasia/hypoplasia' + 'OBSOLETE: Patella aplasia/hypoplasia, bilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Patella aplasia/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_298 Label(s): Mitochondrial neurogastrointestinal encephalomyopathy + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295038 Label(s): OBSOLETE: Patella aplasia/hypoplasia, unilateral - 'OBSOLETE: Patella aplasia/hypoplasia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Patella aplasia/hypoplasia' + 'OBSOLETE: Patella aplasia/hypoplasia, unilateral' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Patella aplasia/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_2661 Label(s): Dwarfism-tall vertebrae syndrome - 'Dwarfism-tall vertebrae syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '3M syndrome' + 'Dwarfism-tall vertebrae syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some '3M syndrome' Class: http://www.orpha.net/ORDO/Orphanet_221150 Label(s): OBSOLETE: Pitt-Hopkins-like syndrome - 'OBSOLETE: Pitt-Hopkins-like syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'CNTNAP2-related developmental and epileptic encephalopathy' + 'OBSOLETE: Pitt-Hopkins-like syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'CNTNAP2-related developmental and epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_278 Label(s): OBSOLETE: Corticobasal degeneration - 'OBSOLETE: Corticobasal degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Corticobasal syndrome' + 'OBSOLETE: Corticobasal degeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Corticobasal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_470488 Label(s): intraflagellar transport 74 + 'intraflagellar transport 74' SubClassOf 'disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'intraflagellar transport 74' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' Class: http://www.orpha.net/ORDO/Orphanet_295010 Label(s): OBSOLETE: Central polydactyly of toes - 'OBSOLETE: Central polydactyly of toes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central polydactyly' + 'OBSOLETE: Central polydactyly of toes' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Central polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_141136 Label(s): Otomandibular syndrome - 'Otomandibular syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Oculo-auriculo-vertebral spectrum' + 'Otomandibular syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Oculo-auriculo-vertebral spectrum' Class: http://www.orpha.net/ORDO/Orphanet_265 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1C - 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Rippling muscle disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Rippling muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_264 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1B - 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_261 Label(s): Emery-Dreifuss muscular dystrophy + 'Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295008 Label(s): OBSOLETE: Postaxial polydactyly of toes - 'OBSOLETE: Postaxial polydactyly of toes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic postaxial polydactyly' + 'OBSOLETE: Postaxial polydactyly of toes' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic postaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_295006 Label(s): OBSOLETE: Preaxial polydactyly of toes - 'OBSOLETE: Preaxial polydactyly of toes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic preaxial polydactyly' + 'OBSOLETE: Preaxial polydactyly of toes' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_240999 Label(s): OBSOLETE: Susceptibility to deafness due to cisplatin treatment - 'OBSOLETE: Susceptibility to deafness due to cisplatin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of cisplatin toxicity' + 'OBSOLETE: Susceptibility to deafness due to cisplatin treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of cisplatin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240997 Label(s): OBSOLETE: Susceptibility to bleeding due to warfarine treatment - 'OBSOLETE: Susceptibility to bleeding due to warfarine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Susceptibility to bleeding due to warfarine treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240995 Label(s): OBSOLETE: Susceptibility to bleeding due to phenprocoumon treatment - 'OBSOLETE: Susceptibility to bleeding due to phenprocoumon treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Susceptibility to bleeding due to phenprocoumon treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240993 Label(s): OBSOLETE: Susceptibility to bleeding due to fluindione treatment - 'OBSOLETE: Susceptibility to bleeding due to fluindione treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Susceptibility to bleeding due to fluindione treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_99645 Label(s): Dappled diaphyseal dysplasia - 'Dappled diaphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Greenberg dysplasia' + 'Dappled diaphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Greenberg dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_240991 Label(s): OBSOLETE: Susceptibility to bleeding due to acenocoumarol treatment - 'OBSOLETE: Susceptibility to bleeding due to acenocoumarol treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Susceptibility to bleeding due to acenocoumarol treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_99648 Label(s): OBSOLETE: Non-progressive congenital heart block - 'OBSOLETE: Non-progressive congenital heart block' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic cardiac rhythm disease' + 'OBSOLETE: Non-progressive congenital heart block' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_97556 Label(s): Congenital and infantile nephrotic syndrome - 'Congenital and infantile nephrotic syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Genetic nephrotic syndrome' + 'Congenital and infantile nephrotic syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Genetic nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240987 Label(s): OBSOLETE: Susceptibility to adverse reaction due to trimipramine treatment - 'OBSOLETE: Susceptibility to adverse reaction due to trimipramine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to trimipramine treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240985 Label(s): OBSOLETE: Susceptibility to adverse reaction due to simvastatin treatment - 'OBSOLETE: Susceptibility to adverse reaction due to simvastatin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to simvastatin treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240983 Label(s): OBSOLETE: Susceptibility to adverse reaction due to rosuvastatin treatment - 'OBSOLETE: Susceptibility to adverse reaction due to rosuvastatin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to rosuvastatin treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240981 Label(s): OBSOLETE: Susceptibility to adverse reaction due to pravastatin treatment - 'OBSOLETE: Susceptibility to adverse reaction due to pravastatin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to pravastatin treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_263417 Label(s): Bartter syndrome with hypocalcemia - 'Bartter syndrome with hypocalcemia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant hypocalcemia' + 'Bartter syndrome with hypocalcemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Autosomal dominant hypocalcemia' Class: http://www.orpha.net/ORDO/Orphanet_293190 Label(s): OBSOLETE: Pleomorphic undifferentiated sarcoma - 'OBSOLETE: Pleomorphic undifferentiated sarcoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Undifferentiated pleomorphic sarcoma' + 'OBSOLETE: Pleomorphic undifferentiated sarcoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Undifferentiated pleomorphic sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_240979 Label(s): OBSOLETE: Susceptibility to adverse reaction due to nortriptyline treatment - 'OBSOLETE: Susceptibility to adverse reaction due to nortriptyline treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to nortriptyline treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240977 Label(s): OBSOLETE: Susceptibility to adverse reaction due to methotrexate treatment - 'OBSOLETE: Susceptibility to adverse reaction due to methotrexate treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Methotrexate toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to methotrexate treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Methotrexate toxicity' Class: http://www.orpha.net/ORDO/Orphanet_99654 Label(s): OBSOLETE: Fibrocalculous pancreatopathy - 'OBSOLETE: Fibrocalculous pancreatopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Tropical pancreatitis' + 'OBSOLETE: Fibrocalculous pancreatopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Tropical pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_240973 Label(s): OBSOLETE: Susceptibility to adverse reaction due to irinotecan treatment - 'OBSOLETE: Susceptibility to adverse reaction due to irinotecan treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of irinotecan toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to irinotecan treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of irinotecan toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240971 Label(s): OBSOLETE: Susceptibility to adverse reaction due to imipramine treatment - 'OBSOLETE: Susceptibility to adverse reaction due to imipramine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to imipramine treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_98554 Label(s): OBSOLETE: Major induction processes eye anomaly - 'OBSOLETE: Major induction processes eye anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Developmental defect of the eye' + 'OBSOLETE: Major induction processes eye anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_99777 Label(s): Achalasia-alacrimia syndrome - 'Achalasia-alacrimia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Triple A syndrome' + 'Achalasia-alacrimia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Triple A syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240969 Label(s): OBSOLETE: Susceptibility to adverse reaction due to efavirenz treatment - 'OBSOLETE: Susceptibility to adverse reaction due to efavirenz treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of efavirenz toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to efavirenz treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of efavirenz toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240965 Label(s): OBSOLETE: Susceptibility to adverse reaction due to clomipramine treatment - 'OBSOLETE: Susceptibility to adverse reaction due to clomipramine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to clomipramine treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_221106 Label(s): OBSOLETE: Isolated facial myokymia - 'OBSOLETE: Isolated facial myokymia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired peripheral movement disorder' + 'OBSOLETE: Isolated facial myokymia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acquired peripheral movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_240963 Label(s): OBSOLETE: Susceptibility to adverse reaction due to capecitabine treatment - 'OBSOLETE: Susceptibility to adverse reaction due to capecitabine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of 5-fluorouracil toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to capecitabine treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of 5-fluorouracil toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240961 Label(s): OBSOLETE: Susceptibility to adverse reaction due to atorvastatin treatment - 'OBSOLETE: Susceptibility to adverse reaction due to atorvastatin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to atorvastatin treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_159897 Label(s): twinkle mtDNA helicase - 'twinkle mtDNA helicase' SubClassOf 'disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'twinkle mtDNA helicase' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642945 + 'twinkle mtDNA helicase' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642976 Class: http://www.orpha.net/ORDO/Orphanet_240955 Label(s): OBSOLETE: Susceptibility to adverse reaction due to 5-fluorouracil treatment - 'OBSOLETE: Susceptibility to adverse reaction due to 5-fluorouracil treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of 5-fluorouracil toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to 5-fluorouracil treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of 5-fluorouracil toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240953 Label(s): OBSOLETE: Resistance to warfarine in venous thrombosis and atrial fibrillation - 'OBSOLETE: Resistance to warfarine in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of resistance to vitamin K antagonists' + 'OBSOLETE: Resistance to warfarine in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240951 Label(s): OBSOLETE: Resistance to venlafaxine in the treatment of depression - 'OBSOLETE: Resistance to venlafaxine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Resistance to venlafaxine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_123727 Label(s): NADH:ubiquinone oxidoreductase core subunit S1 - 'NADH:ubiquinone oxidoreductase core subunit S1' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_240949 Label(s): OBSOLETE: Resistance to trimipramine in the treatment of depression - 'OBSOLETE: Resistance to trimipramine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Resistance to trimipramine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_280663 Label(s): Hermansky-Pudlak syndrome type 9 - 'Hermansky-Pudlak syndrome type 9' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hermansky-Pudlak syndrome due to BLOC-1 deficiency' + 'Hermansky-Pudlak syndrome type 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hermansky-Pudlak syndrome due to BLOC-1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_240945 Label(s): OBSOLETE: Resistance to tacrolimus in transplantation - 'OBSOLETE: Resistance to tacrolimus in transplantation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Tacrolimus dose selection' + 'OBSOLETE: Resistance to tacrolimus in transplantation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Tacrolimus dose selection' Class: http://www.orpha.net/ORDO/Orphanet_240943 Label(s): OBSOLETE: Resistance to phenprocoumon in venous thrombosis and atrial fibrillation - 'OBSOLETE: Resistance to phenprocoumon in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of resistance to vitamin K antagonists' + 'OBSOLETE: Resistance to phenprocoumon in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240941 Label(s): OBSOLETE: Resistance to nortripilline in the treatment of depression - 'OBSOLETE: Resistance to nortripilline in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Resistance to nortripilline in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240939 Label(s): OBSOLETE: Resistance to imipramine in the treatment of depression - 'OBSOLETE: Resistance to imipramine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Resistance to imipramine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_280651 Label(s): Acrodysostosis with multiple hormone resistance - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'part_of' some 'Mandibulofacial dysostosis' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'disorder' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'part_of' some 'Polyendocrinopathy' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'disease' - 'Acrodysostosis with multiple hormone resistance' SubClassOf 'part_of' some 'Acrofacial dysostosis' + 'Acrodysostosis with multiple hormone resistance' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Acrodysostosis' + 'Acrodysostosis with multiple hormone resistance' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240933 Label(s): OBSOLETE: Resistance to clomipramine in the treatment of depression - 'OBSOLETE: Resistance to clomipramine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Resistance to clomipramine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240931 Label(s): OBSOLETE: Resistance to amitriptyline in the treatment of depression - 'OBSOLETE: Resistance to amitriptyline in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Resistance to amitriptyline in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_3333 Label(s): Connective tissue dysplasia, Spellacy type - 'Connective tissue dysplasia, Spellacy type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Rothmund-Thomson syndrome' + 'Connective tissue dysplasia, Spellacy type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Rothmund-Thomson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240929 Label(s): OBSOLETE: Resistance to acenocoumarol in venous thrombosis and atrial fibrillation - 'OBSOLETE: Resistance to acenocoumarol in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of resistance to vitamin K antagonists' + 'OBSOLETE: Resistance to acenocoumarol in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240927 Label(s): OBSOLETE: Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation - 'OBSOLETE: Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_240925 Label(s): OBSOLETE: Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation - 'OBSOLETE: Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_63440 Label(s): OBSOLETE: Isolated oxycephaly - 'OBSOLETE: Isolated oxycephaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic craniosynostosis' + 'OBSOLETE: Isolated oxycephaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_77293 Label(s): Chronic visceral acid sphingomyelinase deficiency + 'Chronic visceral acid sphingomyelinase deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240915 Label(s): OBSOLETE: Trimipramine toxicity - 'OBSOLETE: Trimipramine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Trimipramine toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_98582 Label(s): OBSOLETE: Benign tumor of palpebral epidermis - 'OBSOLETE: Benign tumor of palpebral epidermis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Benign tumor of palpebral epidermis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_240911 Label(s): OBSOLETE: Satracurium toxicity - 'OBSOLETE: Satracurium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Satracurium toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240909 Label(s): OBSOLETE: Rosuvastatin toxicity - 'OBSOLETE: Rosuvastatin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' + 'OBSOLETE: Rosuvastatin toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240907 Label(s): OBSOLETE: Rocuronium toxicity - 'OBSOLETE: Rocuronium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Rocuronium toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240903 Label(s): OBSOLETE: Pravastatin toxicity - 'OBSOLETE: Pravastatin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' + 'OBSOLETE: Pravastatin toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_2894 Label(s): OBSOLETE: Pilotto syndrome - 'OBSOLETE: Pilotto syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Orofacial clefting syndrome' + 'OBSOLETE: Pilotto syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79476 Label(s): Griscelli syndrome type 1 - 'Griscelli syndrome type 1' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_294998 Label(s): OBSOLETE: Brachydactyly of toes - 'OBSOLETE: Brachydactyly of toes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' + 'OBSOLETE: Brachydactyly of toes' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_294990 Label(s): OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb - 'OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' + 'OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_79459 Label(s): OBSOLETE: Follicular atrophoderma-basal cell carcinoma - 'OBSOLETE: Follicular atrophoderma-basal cell carcinoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Bazex-Dupré-Christol syndrome' + 'OBSOLETE: Follicular atrophoderma-basal cell carcinoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Bazex-Dupré-Christol syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79458 Label(s): Oley syndrome - 'Oley syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Bazex-Dupré-Christol syndrome' + 'Oley syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Bazex-Dupré-Christol syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79450 Label(s): Non-hereditary congenital primary lymphedema - 'Non-hereditary congenital primary lymphedema' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Milroy disease' + 'Non-hereditary congenital primary lymphedema' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Milroy disease' Class: http://www.orpha.net/ORDO/Orphanet_2861 Label(s): OBSOLETE: Short stature-microcephaly-heart defect syndrome - 'OBSOLETE: Short stature-microcephaly-heart defect syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: Short stature-microcephaly-heart defect syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2860 Label(s): OBSOLETE: Preeyasombat-Varavithya syndrome - 'OBSOLETE: Preeyasombat-Varavithya syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' + 'OBSOLETE: Preeyasombat-Varavithya syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_77242 Label(s): OBSOLETE: Lymphedema tarda - 'OBSOLETE: Lymphedema tarda' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Meige disease' + 'OBSOLETE: Lymphedema tarda' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Meige disease' Class: http://www.orpha.net/ORDO/Orphanet_77241 Label(s): OBSOLETE: Lymphedema praecox - 'OBSOLETE: Lymphedema praecox' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Meige disease' + 'OBSOLETE: Lymphedema praecox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Meige disease' Class: http://www.orpha.net/ORDO/Orphanet_79446 Label(s): Multiple pterygium syndrome, Aslan type - 'Multiple pterygium syndrome, Aslan type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Bartsocas-Papas syndrome' + 'Multiple pterygium syndrome, Aslan type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Bartsocas-Papas syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79445 Label(s): Pseudopseudohypoparathyroidism + 'Pseudopseudohypoparathyroidism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_79444 Label(s): Pseudohypoparathyroidism type 1C + 'Pseudohypoparathyroidism type 1C' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_466801 Label(s): LIMS2-related limb-girdle muscular dystrophy - 'LIMS2-related limb-girdle muscular dystrophy' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' - 'LIMS2-related limb-girdle muscular dystrophy' SubClassOf 'disease' - 'LIMS2-related limb-girdle muscular dystrophy' SubClassOf 'disorder' - 'LIMS2-related limb-girdle muscular dystrophy' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' + 'LIMS2-related limb-girdle muscular dystrophy' SubClassOf 'obsolete disorder' + 'LIMS2-related limb-girdle muscular dystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Progressive muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_79429 Label(s): OBSOLETE: Familial spinal neurofibromatosis - 'OBSOLETE: Familial spinal neurofibromatosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neurofibromatosis type 1' + 'OBSOLETE: Familial spinal neurofibromatosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neurofibromatosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_79428 Label(s): OBSOLETE: Familial segmental neurofibromatosis - 'OBSOLETE: Familial segmental neurofibromatosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neurofibromatosis type 1' + 'OBSOLETE: Familial segmental neurofibromatosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neurofibromatosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_2837 Label(s): Pellagra-like skin rash-neurological manifestations syndrome - 'Pellagra-like skin rash-neurological manifestations syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Xeroderma pigmentosum-Cockayne syndrome complex' + 'Pellagra-like skin rash-neurological manifestations syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Xeroderma pigmentosum-Cockayne syndrome complex' Class: http://www.orpha.net/ORDO/Orphanet_2500 Label(s): Acrogeria + 'Acrogeria' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2650 Label(s): OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome - 'OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2829 Label(s): Partington-Anderson syndrome - 'Partington-Anderson syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cohen syndrome' + 'Partington-Anderson syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cohen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2823 Label(s): OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome - 'OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' + 'OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' Class: http://www.orpha.net/ORDO/Orphanet_289478 Label(s): Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome + 'Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 + 'Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_2535 Label(s): OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome - 'OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the pupil' + 'OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_2626 Label(s): OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome - 'OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2543 Label(s): OBSOLETE: Microphthalmia-cataract syndrome - 'OBSOLETE: Microphthalmia-cataract syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated microphthalmia-anophthalmia-coloboma' + 'OBSOLETE: Microphthalmia-cataract syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Isolated microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_2569 Label(s): Moore-Federman syndrome - 'Moore-Federman syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Acromicric dysplasia' + 'Moore-Federman syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Acromicric dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2580 Label(s): OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome - 'OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_255249 Label(s): Leigh syndrome with nephrotic syndrome - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'part_of' some 'Disorder with multisystemic involvement and glomerulopathy' - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'disease' - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'part_of' some 'Leigh syndrome' - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'disorder' + 'Leigh syndrome with nephrotic syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Leigh syndrome' + 'Leigh syndrome with nephrotic syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_255235 Label(s): Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_182214 Label(s): OBSOLETE: Rare inflammatory eye disease - 'OBSOLETE: Rare inflammatory eye disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare ophthalmic disorder' + 'OBSOLETE: Rare inflammatory eye disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare ophthalmic disorder' Class: http://www.orpha.net/ORDO/Orphanet_101356 Label(s): OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome - 'OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndrome with a central nervous system malformation as a major feature' + 'OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_194 Label(s): OBSOLETE: Ocular coloboma - 'OBSOLETE: Ocular coloboma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Developmental defect of the eye' + 'OBSOLETE: Ocular coloboma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_255117 Label(s): OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness - 'OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant optic atrophy plus syndrome' + 'OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal dominant optic atrophy plus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101338 Label(s): OBSOLETE: Mediterranean spotted fever - 'OBSOLETE: Mediterranean spotted fever' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Boutonneuse fever' + 'OBSOLETE: Mediterranean spotted fever' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Boutonneuse fever' Class: http://www.orpha.net/ORDO/Orphanet_101337 Label(s): OBSOLETE: Marseilles fever - 'OBSOLETE: Marseilles fever' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Boutonneuse fever' + 'OBSOLETE: Marseilles fever' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Boutonneuse fever' Class: http://www.orpha.net/ORDO/Orphanet_101336 Label(s): OBSOLETE: Kenya tick typhus - 'OBSOLETE: Kenya tick typhus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Boutonneuse fever' + 'OBSOLETE: Kenya tick typhus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Boutonneuse fever' Class: http://www.orpha.net/ORDO/Orphanet_101335 Label(s): OBSOLETE: Indian tick typhus - 'OBSOLETE: Indian tick typhus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Boutonneuse fever' + 'OBSOLETE: Indian tick typhus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Boutonneuse fever' Class: http://www.orpha.net/ORDO/Orphanet_93218 Label(s): OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis - 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' + 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_184 Label(s): Cherubism + 'Cherubism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_459353 Label(s): OBSOLETE: C1 inhibitor deficiency - 'OBSOLETE: C1 inhibitor deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal systemic lupus erythematosus' + 'OBSOLETE: C1 inhibitor deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal systemic lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_177 Label(s): Rhizomelic chondrodysplasia punctata + 'Rhizomelic chondrodysplasia punctata' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95433 Label(s): Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - 'Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia' + 'Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' + 'Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome' SubClassOf 'part_of' some 'Peroxisomal disease' Class: http://www.orpha.net/ORDO/Orphanet_240899 Label(s): OBSOLETE: Phenytoin toxicity - 'OBSOLETE: Phenytoin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of flucloxacilline toxicity' + 'OBSOLETE: Phenytoin toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of flucloxacilline toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240895 Label(s): OBSOLETE: Pancuronium toxicity - 'OBSOLETE: Pancuronium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Pancuronium toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240893 Label(s): OBSOLETE: Nortriptyline toxicity - 'OBSOLETE: Nortriptyline toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Nortriptyline toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240891 Label(s): OBSOLETE: Mivacurium toxicity - 'OBSOLETE: Mivacurium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Mivacurium toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_151 Label(s): OBSOLETE: Familial renal cell carcinoma - 'OBSOLETE: Familial renal cell carcinoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary papillary renal cell carcinoma' + 'OBSOLETE: Familial renal cell carcinoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary papillary renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_99859 Label(s): OBSOLETE: Posttraumatic syringomyelia - 'OBSOLETE: Posttraumatic syringomyelia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Secondary syringomyelia' + 'OBSOLETE: Posttraumatic syringomyelia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Secondary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_240883 Label(s): OBSOLETE: Imipramine toxicity - 'OBSOLETE: Imipramine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Imipramine toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240879 Label(s): OBSOLETE: Glimepiride toxicity - 'OBSOLETE: Glimepiride toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Glimepiride toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_240875 Label(s): OBSOLETE: Glibenclamide toxicity - 'OBSOLETE: Glibenclamide toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Glibenclamide toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_240873 Label(s): OBSOLETE: Fluindione toxicity - 'OBSOLETE: Fluindione toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Fluindione toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240865 Label(s): OBSOLETE: Clomipramine toxicity - 'OBSOLETE: Clomipramine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Clomipramine toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240861 Label(s): OBSOLETE: Cisatracurium toxicity - 'OBSOLETE: Cisatracurium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Cisatracurium toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_125 Label(s): Bloom syndrome + 'Bloom syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123 Label(s): Björnstad syndrome + 'Björnstad syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240859 Label(s): OBSOLETE: Carbutamide toxicity - 'OBSOLETE: Carbutamide toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Carbutamide toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_93280 Label(s): Spondyloepiphyseal dysplasia, Omani type - 'Spondyloepiphyseal dysplasia, Omani type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'CHST3-related skeletal dysplasia' + 'Spondyloepiphyseal dysplasia, Omani type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'CHST3-related skeletal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_240857 Label(s): OBSOLETE: Carbamazepine toxicity - 'OBSOLETE: Carbamazepine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of phenytoin or carbamazepine toxicity' + 'OBSOLETE: Carbamazepine toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240855 Label(s): OBSOLETE: Capecitabine toxicity - 'OBSOLETE: Capecitabine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of 5-fluorouracil toxicity' + 'OBSOLETE: Capecitabine toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of 5-fluorouracil toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240853 Label(s): OBSOLETE: Azathioprine toxicity - 'OBSOLETE: Azathioprine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Azathioprine toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_240851 Label(s): OBSOLETE: Atorvastatin toxicity - 'OBSOLETE: Atorvastatin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' + 'OBSOLETE: Atorvastatin toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_116 Label(s): Beckwith-Wiedemann syndrome + 'Beckwith-Wiedemann syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_641343 Class: http://www.orpha.net/ORDO/Orphanet_280569 Label(s): OBSOLETE: Rapidly progressive glomerulonephritis - 'OBSOLETE: Rapidly progressive glomerulonephritis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glomerular disease' + 'OBSOLETE: Rapidly progressive glomerulonephritis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_240849 Label(s): OBSOLETE: Antipsychotics toxicity - 'OBSOLETE: Antipsychotics toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Antipsychotics toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240847 Label(s): OBSOLETE: Amitriptyline toxicity - 'OBSOLETE: Amitriptyline toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Amitriptyline toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240843 Label(s): OBSOLETE: Acenocoumarol toxicity - 'OBSOLETE: Acenocoumarol toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Acenocoumarol toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_1535 Label(s): Craniosynostosis-dysmorphism-brachydactyly syndrome - 'Craniosynostosis-dysmorphism-brachydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Muenke syndrome' + 'Craniosynostosis-dysmorphism-brachydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Muenke syndrome' Class: http://www.orpha.net/ORDO/Orphanet_103 Label(s): OBSOLETE: Genetic optic atrophy - 'OBSOLETE: Genetic optic atrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary optic neuropathy' + 'OBSOLETE: Genetic optic atrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_99662 Label(s): OBSOLETE: Posterior fossa tumors - 'OBSOLETE: Posterior fossa tumors' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare tumor of neuroepithelial tissue' + 'OBSOLETE: Posterior fossa tumors' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare tumor of neuroepithelial tissue' Class: http://www.orpha.net/ORDO/Orphanet_2641 Label(s): OBSOLETE: Micromelic dwarfism, Fryns type - 'OBSOLETE: Micromelic dwarfism, Fryns type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spondylometaphyseal dysplasia' + 'OBSOLETE: Micromelic dwarfism, Fryns type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_99664 Label(s): OBSOLETE: Trochlear nerve palsy - 'OBSOLETE: Trochlear nerve palsy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital trochlear nerve palsy' + 'OBSOLETE: Trochlear nerve palsy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital trochlear nerve palsy' Class: http://www.orpha.net/ORDO/Orphanet_71269 Label(s): OBSOLETE: Benign exophthalmos syndrome - 'OBSOLETE: Benign exophthalmos syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare ophthalmic disorder' + 'OBSOLETE: Benign exophthalmos syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare ophthalmic disorder' Class: http://www.orpha.net/ORDO/Orphanet_71270 Label(s): OBSOLETE: Auriculoocular anomalies-cleft lip syndrome - 'OBSOLETE: Auriculoocular anomalies-cleft lip syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' + 'OBSOLETE: Auriculoocular anomalies-cleft lip syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' Class: http://www.orpha.net/ORDO/Orphanet_172985 Label(s): OBSOLETE: Congenital myopathy with vacuoles - 'OBSOLETE: Congenital myopathy with vacuoles' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital myopathy' + 'OBSOLETE: Congenital myopathy with vacuoles' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_172982 Label(s): OBSOLETE: Congenital myopathy with fiber size variation - 'OBSOLETE: Congenital myopathy with fiber size variation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital myopathy' + 'OBSOLETE: Congenital myopathy with fiber size variation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_79383 Label(s): OBSOLETE: Lymphedema - 'OBSOLETE: Lymphedema' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary lymphedema' + 'OBSOLETE: Lymphedema' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_85328 Label(s): X-linked intellectual disability, Turner type - 'X-linked intellectual disability, Turner type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Non-specific syndromic intellectual disability' + 'X-linked intellectual disability, Turner type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_172973 Label(s): OBSOLETE: Congenital myopathy with protein accumulation - 'OBSOLETE: Congenital myopathy with protein accumulation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital myopathy' + 'OBSOLETE: Congenital myopathy with protein accumulation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_2780 Label(s): Osteopathia striata-cranial sclerosis syndrome + 'Osteopathia striata-cranial sclerosis syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2775 Label(s): Autosomal recessive carpotarsal osteolysis - 'Autosomal recessive carpotarsal osteolysis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' + 'Autosomal recessive carpotarsal osteolysis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_159705 Label(s): HLF transcription factor, PAR bZIP family member - 'HLF transcription factor, PAR bZIP family member' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'HLF transcription factor, PAR bZIP family member' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_641375 Class: http://www.orpha.net/ORDO/Orphanet_79344 Label(s): OBSOLETE: Chondrodysplasia punctata, Sheffield type - 'OBSOLETE: Chondrodysplasia punctata, Sheffield type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Brachytelephalangic chondrodysplasia punctata' + 'OBSOLETE: Chondrodysplasia punctata, Sheffield type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Brachytelephalangic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_79330 Label(s): MOGS-CDG + 'MOGS-CDG' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2739 Label(s): Onycho-tricho-dysplasia-neutropenia syndrome - 'Onycho-tricho-dysplasia-neutropenia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' + 'Onycho-tricho-dysplasia-neutropenia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2731 Label(s): Taurodontia-absent teeth-sparse hair syndrome - 'Taurodontia-absent teeth-sparse hair syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hypohidrotic ectodermal dysplasia' + 'Taurodontia-absent teeth-sparse hair syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hypohidrotic ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_454872 Label(s): OBSOLETE: Type 1 interferonopathy with immunodeficiency - 'OBSOLETE: Type 1 interferonopathy with immunodeficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immune dysregulation disease with immunodeficiency' + 'OBSOLETE: Type 1 interferonopathy with immunodeficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_79317 Label(s): OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency - 'OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Phosphoenolpyruvate carboxykinase deficiency' + 'OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Phosphoenolpyruvate carboxykinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79316 Label(s): OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency - 'OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Phosphoenolpyruvate carboxykinase deficiency' + 'OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Phosphoenolpyruvate carboxykinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_90345 Label(s): OBSOLETE: Unclassified metaphyseal chondrodysplasia - 'OBSOLETE: Unclassified metaphyseal chondrodysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple metaphyseal dysplasia' + 'OBSOLETE: Unclassified metaphyseal chondrodysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_90341 Label(s): Early-onset sarcoidosis - 'Early-onset sarcoidosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Blau syndrome' + 'Early-onset sarcoidosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Blau syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90340 Label(s): Blau syndrome + 'Blau syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_90338 Label(s): Margarita island ectodermal dysplasia - 'Margarita island ectodermal dysplasia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cleft lip/palate-ectodermal dysplasia syndrome' + 'Margarita island ectodermal dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cleft lip/palate-ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_332912 Label(s): DNA replication helicase/nuclease 2 + 'DNA replication helicase/nuclease 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Seckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2706 Label(s): OBSOLETE: Oculocerebroacral syndrome - 'OBSOLETE: Oculocerebroacral syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Oculocerebroacral syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2705 Label(s): OBSOLETE: Oculocerebral dysplasia - 'OBSOLETE: Oculocerebral dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated optic nerve hypoplasia/aplasia' + 'OBSOLETE: Oculocerebral dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_637064 Class: http://www.orpha.net/ORDO/Orphanet_2640 Label(s): Lethal short-limb dwarfism, McAlister-Crane type - 'Lethal short-limb dwarfism, McAlister-Crane type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Atelosteogenesis type II' + 'Lethal short-limb dwarfism, McAlister-Crane type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Atelosteogenesis type II' Class: http://www.orpha.net/ORDO/Orphanet_169618 Label(s): Secondary central precocious puberty - 'Secondary central precocious puberty' SubClassOf 'part_of' some 'Central precocious puberty' - 'Secondary central precocious puberty' SubClassOf 'subtype of a disorder' + 'Secondary central precocious puberty' SubClassOf 'non rare subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_169615 Label(s): Idiopathic central precocious puberty - 'Idiopathic central precocious puberty' SubClassOf 'part_of' some 'Genetic precocious puberty' - 'Idiopathic central precocious puberty' SubClassOf 'part_of' some 'Genetic precocious puberty in female' - 'Idiopathic central precocious puberty' SubClassOf 'part_of' some 'Central precocious puberty' - 'Idiopathic central precocious puberty' SubClassOf 'subtype of a disorder' + 'Idiopathic central precocious puberty' SubClassOf 'non rare subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_2649 Label(s): Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome - 'Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Baraitser-Winter cerebrofrontofacial syndrome' + 'Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Baraitser-Winter cerebrofrontofacial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90318 Label(s): OBSOLETE: Ehlers-Danlos syndrome type 2 - 'OBSOLETE: Ehlers-Danlos syndrome type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Classical Ehlers-Danlos syndrome' + 'OBSOLETE: Ehlers-Danlos syndrome type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Classical Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2654 Label(s): Syndesmodysplasic dwarfism - 'Syndesmodysplasic dwarfism' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Progressive pseudorheumatoid arthropathy of childhood' + 'Syndesmodysplasic dwarfism' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Progressive pseudorheumatoid arthropathy of childhood' Class: http://www.orpha.net/ORDO/Orphanet_90309 Label(s): OBSOLETE: Ehlers-Danlos syndrome type 1 - 'OBSOLETE: Ehlers-Danlos syndrome type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Classical Ehlers-Danlos syndrome' + 'OBSOLETE: Ehlers-Danlos syndrome type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Classical Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137658 Label(s): Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome - 'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Filippi syndrome' + 'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Filippi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137653 Label(s): Microcephaly-digital anomalies-intellectual disability syndrome - 'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Jawad syndrome' + 'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Jawad syndrome' Class: http://www.orpha.net/ORDO/Orphanet_220922 Label(s): dedicator of cytokinesis 8 + 'dedicator of cytokinesis 8' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_641368 Class: http://www.orpha.net/ORDO/Orphanet_624178 Label(s): Non-specific autoimmune supratentorial encephalitis without characteristic antibodies + 'Non-specific autoimmune supratentorial encephalitis without characteristic antibodies' SubClassOf 'part_of' some 'Paraneoplastic neurologic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_407416 Label(s): interferon lambda 4 (gene/pseudogene) - 'interferon lambda 4 (gene/pseudogene)' SubClassOf 'gene with protein product' - 'interferon lambda 4 (gene/pseudogene)' SubClassOf 'biomarker tested in' some 'Prediction of response to antiviral treatment in hepatitis C' - 'interferon lambda 4 (gene/pseudogene)' SubClassOf 'has_chromosomal location' value "19q13.2" Class: http://www.orpha.net/ORDO/Orphanet_2675 Label(s): OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome - 'OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary renal tubular acidosis' + 'OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_99706 Label(s): OBSOLETE: Progeria-associated arthropathy - 'OBSOLETE: Progeria-associated arthropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Laminopathy with premature aging' + 'OBSOLETE: Progeria-associated arthropathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Laminopathy with premature aging' Class: http://www.orpha.net/ORDO/Orphanet_2689 Label(s): Intermittent neutropenia - 'Intermittent neutropenia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cyclic neutropenia' + 'Intermittent neutropenia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cyclic neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_122513 Label(s): hydroxysteroid 17-beta dehydrogenase 4 - 'hydroxysteroid 17-beta dehydrogenase 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'hydroxysteroid 17-beta dehydrogenase 4' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642976 + 'hydroxysteroid 17-beta dehydrogenase 4' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642945 Class: http://www.orpha.net/ORDO/Orphanet_99715 Label(s): MASS syndrome - 'MASS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Marfan syndrome type 1' + 'MASS syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Marfan syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_268052 Label(s): histidyl-tRNA synthetase 2, mitochondrial - 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642976 + 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642945 Class: http://www.orpha.net/ORDO/Orphanet_230845 Label(s): Vascular-like classical Ehlers-Danlos syndrome - 'Vascular-like classical Ehlers-Danlos syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Classical Ehlers-Danlos syndrome' + 'Vascular-like classical Ehlers-Danlos syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Classical Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_70474 Label(s): Leigh syndrome with cardiomyopathy - 'Leigh syndrome with cardiomyopathy' SubClassOf 'part_of' some 'Leigh syndrome' - 'Leigh syndrome with cardiomyopathy' SubClassOf 'disease' - 'Leigh syndrome with cardiomyopathy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - 'Leigh syndrome with cardiomyopathy' SubClassOf 'disorder' + 'Leigh syndrome with cardiomyopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Leigh syndrome' + 'Leigh syndrome with cardiomyopathy' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_70472 Label(s): Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'part_of' some 'Leigh syndrome' + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'part_of' some 'Supranuclear eye movement disorder' + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_70470 Label(s): OBSOLETE: Hyperlipoproteinemia type 5 - 'OBSOLETE: Hyperlipoproteinemia type 5' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial chylomicronemia syndrome' + 'OBSOLETE: Hyperlipoproteinemia type 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial chylomicronemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_303176 Label(s): piezo type mechanosensitive ion channel component 1 + 'piezo type mechanosensitive ion channel component 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Milroy disease' Class: http://www.orpha.net/ORDO/Orphanet_522544 Label(s): OBSOLETE: Rare genetic conjunctivitis - 'OBSOLETE: Rare genetic conjunctivitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare conjunctivitis' + 'OBSOLETE: Rare genetic conjunctivitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare conjunctivitis' Class: http://www.orpha.net/ORDO/Orphanet_99146 Label(s): OBSOLETE: Platelet function disease associated with renal insufficiency - 'OBSOLETE: Platelet function disease associated with renal insufficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hemorrhagic disorder due to a platelet anomaly' + 'OBSOLETE: Platelet function disease associated with renal insufficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare hemorrhagic disorder due to a platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99143 Label(s): OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome - 'OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia' + 'OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_352740 Label(s): Ocular albinism with congenital sensorineural deafness - 'Ocular albinism with congenital sensorineural deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Waardenburg syndrome type 2' + 'Ocular albinism with congenital sensorineural deafness' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Waardenburg syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_99126 Label(s): OBSOLETE: Pulmonary vein atresia - 'OBSOLETE: Pulmonary vein atresia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital pulmonary veins atresia or stenosis' - 'OBSOLETE: Pulmonary vein atresia' SubClassOf 'obsolete disorder' + 'OBSOLETE: Pulmonary vein atresia' SubClassOf 'disorder' + 'OBSOLETE: Pulmonary vein atresia' SubClassOf 'Morphological anomaly' + 'OBSOLETE: Pulmonary vein atresia' SubClassOf 'part_of' some 'Congenital pulmonary veins atresia or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_3274 Label(s): Granulomatous arthritis of childhood - 'Granulomatous arthritis of childhood' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Blau syndrome' + 'Granulomatous arthritis of childhood' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Blau syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99966 Label(s): Atypical teratoid rhabdoid tumor - 'Atypical teratoid rhabdoid tumor' SubClassOf 'subtype of a disorder' - 'Atypical teratoid rhabdoid tumor' SubClassOf 'part_of' some 'Rhabdoid tumor' + 'Atypical teratoid rhabdoid tumor' SubClassOf 'disease' + 'Atypical teratoid rhabdoid tumor' SubClassOf 'part_of' some 'Soft tissue sarcoma' + 'Atypical teratoid rhabdoid tumor' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_93367 Label(s): OBSOLETE: CINCA syndrome without NLRP3 mutations - 'OBSOLETE: CINCA syndrome without NLRP3 mutations' SubClassOf http://www.orpha.net/ORDO/referred_to some 'CINCA syndrome' + 'OBSOLETE: CINCA syndrome without NLRP3 mutations' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'CINCA syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99972 Label(s): OBSOLETE: Immunoglobulin A1 deficiency - 'OBSOLETE: Immunoglobulin A1 deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency predominantly affecting antibody production' + 'OBSOLETE: Immunoglobulin A1 deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_189439 Label(s): Primary pigmented nodular adrenocortical disease - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'part_of' some 'ACTH-independent Cushing syndrome' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'disorder' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'disease' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'part_of' some 'Rare genetic adrenal disease' + 'Primary pigmented nodular adrenocortical disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_647772 + 'Primary pigmented nodular adrenocortical disease' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_470234 Label(s): dynein axonemal heavy chain 10 + 'dynein axonemal heavy chain 10' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_208600 Label(s): OBSOLETE: Papillary fibroelastoma of the heart - 'OBSOLETE: Papillary fibroelastoma of the heart' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cardiac tumor' + 'OBSOLETE: Papillary fibroelastoma of the heart' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_99764 Label(s): OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 - 'OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial hypoaldosteronism' + 'OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial hypoaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_352704 Label(s): OBSOLETE: Cobblestone lissencephaly type B - 'OBSOLETE: Cobblestone lissencephaly type B' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'OBSOLETE: Cobblestone lissencephaly type B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' Class: http://www.orpha.net/ORDO/Orphanet_1211 Label(s): OBSOLETE: Atrichia-mental and growth delay syndrome - 'OBSOLETE: Atrichia-mental and growth delay syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atrichia with papular lesions' + 'OBSOLETE: Atrichia-mental and growth delay syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Atrichia with papular lesions' Class: http://www.orpha.net/ORDO/Orphanet_1219 Label(s): Aurocephalosyndactyly - 'Aurocephalosyndactyly' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Saethre-Chotzen syndrome' + 'Aurocephalosyndactyly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Saethre-Chotzen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240877 Label(s): OBSOLETE: Gliclazide toxicity - 'OBSOLETE: Gliclazide toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Gliclazide toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_99781 Label(s): OBSOLETE: Familial articular chondrocalcinosis type 1 - 'OBSOLETE: Familial articular chondrocalcinosis type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial calcium pyrophosphate deposition' + 'OBSOLETE: Familial articular chondrocalcinosis type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Familial calcium pyrophosphate deposition' Class: http://www.orpha.net/ORDO/Orphanet_75501 Label(s): OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type - 'OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Classical Ehlers-Danlos syndrome' + 'OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Classical Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79289 Label(s): Niemann-Pick disease type D - 'Niemann-Pick disease type D' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Niemann-Pick disease type C' + 'Niemann-Pick disease type D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Niemann-Pick disease type C' Class: http://www.orpha.net/ORDO/Orphanet_2694 Label(s): OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome - 'OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Linear nevus sebaceus syndrome' + 'OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Linear nevus sebaceus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2691 Label(s): Nevo syndrome - 'Nevo syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency' + 'Nevo syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_240889 Label(s): OBSOLETE: Mercaptopurine toxicity - 'OBSOLETE: Mercaptopurine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Mercaptopurine toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_98690 Label(s): OBSOLETE: Myasthenic syndrome with eye involvement - 'OBSOLETE: Myasthenic syndrome with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuromuscular junction disease' + 'OBSOLETE: Myasthenic syndrome with eye involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neuromuscular junction disease' Class: http://www.orpha.net/ORDO/Orphanet_2687 Label(s): Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome - 'Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'T-cell large granular lymphocyte leukemia' + 'Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'T-cell large granular lymphocyte leukemia' Class: http://www.orpha.net/ORDO/Orphanet_2679 Label(s): OBSOLETE: Infantile axonal neuropathy - 'OBSOLETE: Infantile axonal neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic peripheral neuropathy' + 'OBSOLETE: Infantile axonal neuropathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2677 Label(s): OBSOLETE: Neuroepithelioma - 'OBSOLETE: Neuroepithelioma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Peripheral primitive neuroectodermal tumor' + 'OBSOLETE: Neuroepithelioma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Peripheral primitive neuroectodermal tumor' Class: http://www.orpha.net/ORDO/Orphanet_2676 Label(s): Neuroectodermal-endocrine syndrome - 'Neuroectodermal-endocrine syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Woodhouse-Sakati syndrome' + 'Neuroectodermal-endocrine syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Woodhouse-Sakati syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209886 Label(s): OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1 - 'OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'UMOD-related autosomal dominant tubulointerstitial kidney disease' + 'OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'UMOD-related autosomal dominant tubulointerstitial kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_90290 Label(s): CREST syndrome - 'CREST syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Limited cutaneous systemic sclerosis' + 'CREST syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Limited cutaneous systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_1239 Label(s): OBSOLETE: Behr syndrome - 'OBSOLETE: Behr syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic hereditary optic neuropathy' + 'OBSOLETE: Behr syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_90287 Label(s): OBSOLETE: Maculopapular lupus rash - 'OBSOLETE: Maculopapular lupus rash' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cutaneous lupus erythematosus' + 'OBSOLETE: Maculopapular lupus rash' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_519357 Label(s): OBSOLETE: Syndromic malformation of the optic disc - 'OBSOLETE: Syndromic malformation of the optic disc' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with optic disc malformation' + 'OBSOLETE: Syndromic malformation of the optic disc' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare disorder with optic disc malformation' Class: http://www.orpha.net/ORDO/Orphanet_79230 Label(s): Hemochromatosis type 2 - 'Hemochromatosis type 2' SubClassOf 'part_of' some 'Rare hereditary hemochromatosis' + 'Hemochromatosis type 2' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_648569 Class: http://www.orpha.net/ORDO/Orphanet_519335 Label(s): OBSOLETE: Inflammatory/autoimmune optic neuropathy - 'OBSOLETE: Inflammatory/autoimmune optic neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune/inflammatory optic neuropathy' + 'OBSOLETE: Inflammatory/autoimmune optic neuropathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune/inflammatory optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2708 Label(s): OBSOLETE: Oculocerebroosseous syndrome - 'OBSOLETE: Oculocerebroosseous syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Oculocerebroosseous syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2621 Label(s): OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome - 'OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Other immunodeficiency syndrome with predominantly antibody defects' Class: http://www.orpha.net/ORDO/Orphanet_412839 Label(s): SET domain containing 2, histone lysine methyltransferase + 'SET domain containing 2, histone lysine methyltransferase' SubClassOf 'disease-causing germline mutation(s) in' some 'SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome' + 'SET domain containing 2, histone lysine methyltransferase' SubClassOf 'disease-causing germline mutation(s) in' some 'Luscan-Lumish syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2615 Label(s): Nakajo-Nishimura syndrome - 'Nakajo-Nishimura syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Proteasome-associated autoinflammatory syndrome' + 'Nakajo-Nishimura syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Proteasome-associated autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2725 Label(s): Eye defects-arachnodactyly-cardiopathy syndrome - 'Eye defects-arachnodactyly-cardiopathy syndrome' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Eye defects-arachnodactyly-cardiopathy syndrome' SubClassOf 'part_of' some 'Syndromic genetic cataract' - 'Eye defects-arachnodactyly-cardiopathy syndrome' SubClassOf 'malformation syndrome' - 'Eye defects-arachnodactyly-cardiopathy syndrome' SubClassOf 'disorder' - 'Eye defects-arachnodactyly-cardiopathy syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'Eye defects-arachnodactyly-cardiopathy syndrome' SubClassOf 'deprecated disorder' + 'Eye defects-arachnodactyly-cardiopathy syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some http://www.orpha.net/ORDO/Orphanet_642099 Class: http://www.orpha.net/ORDO/Orphanet_122795 Label(s): potassium calcium-activated channel subfamily M alpha 1 - 'potassium calcium-activated channel subfamily M alpha 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'potassium calcium-activated channel subfamily M alpha 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Zimmermann-Laband syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2601 Label(s): OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome - 'OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Muscular dystrophy' + 'OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_137586 Label(s): OBSOLETE: Herpes simplex virus keratitis - 'OBSOLETE: Herpes simplex virus keratitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Infective keratitis' + 'OBSOLETE: Herpes simplex virus keratitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Infective keratitis' Class: http://www.orpha.net/ORDO/Orphanet_2742 Label(s): OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome - 'OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' + 'OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_494433 Label(s): MIRAGE syndrome + 'MIRAGE syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_57194 Label(s): OBSOLETE: Aseptic osteitis - 'OBSOLETE: Aseptic osteitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' + 'OBSOLETE: Aseptic osteitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_464682 Label(s): OBSOLETE: Disorder with acute infantile liver failure - 'OBSOLETE: Disorder with acute infantile liver failure' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare parenchymal liver disease' + 'OBSOLETE: Disorder with acute infantile liver failure' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_2778 Label(s): OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis - 'OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' + 'OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_99088 Label(s): OBSOLETE: Intramural coronary arterial course - 'OBSOLETE: Intramural coronary arterial course' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anomalous aortic origin of coronary artery' + 'OBSOLETE: Intramural coronary arterial course' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Anomalous aortic origin of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_99086 Label(s): OBSOLETE: Aortopulmonary coronary arterial course - 'OBSOLETE: Aortopulmonary coronary arterial course' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anomalous aortic origin of coronary artery' + 'OBSOLETE: Aortopulmonary coronary arterial course' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Anomalous aortic origin of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_99085 Label(s): OBSOLETE: Coronary artery intramyocardial course - 'OBSOLETE: Coronary artery intramyocardial course' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anomalous aortic origin of coronary artery' + 'OBSOLETE: Coronary artery intramyocardial course' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Anomalous aortic origin of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_329998 Label(s): OBSOLETE: Lymphomatous meningitis - 'OBSOLETE: Lymphomatous meningitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-Hodgkin lymphoma' + 'OBSOLETE: Lymphomatous meningitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_352699 Label(s): OBSOLETE: Cobblestone lissencephaly type C - 'OBSOLETE: Cobblestone lissencephaly type C' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'OBSOLETE: Cobblestone lissencephaly type C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' Class: http://www.orpha.net/ORDO/Orphanet_352694 Label(s): OBSOLETE: Cobblestone lissencephaly type A - 'OBSOLETE: Cobblestone lissencephaly type A' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'OBSOLETE: Cobblestone lissencephaly type A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' Class: http://www.orpha.net/ORDO/Orphanet_299152 Label(s): isocitrate dehydrogenase (NADP(+)) 1 + 'isocitrate dehydrogenase (NADP(+)) 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Acute myeloid leukaemia with myelodysplasia-related features' Class: http://www.orpha.net/ORDO/Orphanet_99066 Label(s): OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome - 'OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Complete atrioventricular septal defect' + 'OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Complete atrioventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_137605 Label(s): Legius syndrome - 'Legius syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' + 'Legius syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93427 Label(s): OBSOLETE: Metatropic dysplasias - 'OBSOLETE: Metatropic dysplasias' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Metatropic dysplasia' + 'OBSOLETE: Metatropic dysplasias' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Metatropic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_99047 Label(s): Double outlet right ventricle with doubly committed ventricular septal defect - 'Double outlet right ventricle with doubly committed ventricular septal defect' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Double outlet right ventricle with subaortic or doubly committed ventricular septal defect' + 'Double outlet right ventricle with doubly committed ventricular septal defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Double outlet right ventricle with subaortic or doubly committed ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_99044 Label(s): Double outlet right ventricle with subaortic ventricular septal defect - 'Double outlet right ventricle with subaortic ventricular septal defect' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Double outlet right ventricle with subaortic or doubly committed ventricular septal defect' + 'Double outlet right ventricle with subaortic ventricular septal defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Double outlet right ventricle with subaortic or doubly committed ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_398980 Label(s): Primary peritoneal serous/papillary carcinoma - 'Primary peritoneal serous/papillary carcinoma' SubClassOf 'disease' - 'Primary peritoneal serous/papillary carcinoma' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' - 'Primary peritoneal serous/papillary carcinoma' SubClassOf 'disorder' + 'Primary peritoneal serous/papillary carcinoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary peritoneal carcinoma' + 'Primary peritoneal serous/papillary carcinoma' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_101107 Label(s): Spinocerebellar ataxia type 22 - 'Spinocerebellar ataxia type 22' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Spinocerebellar ataxia type 19/22' + 'Spinocerebellar ataxia type 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Spinocerebellar ataxia type 19/22' Class: http://www.orpha.net/ORDO/Orphanet_101106 Label(s): OBSOLETE: Non-secreting chemodectoma - 'OBSOLETE: Non-secreting chemodectoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-functioning paraganglioma' + 'OBSOLETE: Non-secreting chemodectoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-functioning paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_163918 Label(s): OBSOLETE: Non-paraneoplastic limbic encephalitis - 'OBSOLETE: Non-paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Non-paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_2716 Label(s): OBSOLETE: Oculo-skeletal-renal syndrome - 'OBSOLETE: Oculo-skeletal-renal syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Oculo-skeletal-renal syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_117691 Label(s): ABL proto-oncogene 1, non-receptor tyrosine kinase + 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_643503 Class: http://www.orpha.net/ORDO/Orphanet_99012 Label(s): OBSOLETE: Autosomal recessive optic atrophy, OPA6 type - 'OBSOLETE: Autosomal recessive optic atrophy, OPA6 type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal recessive isolated optic atrophy' + 'OBSOLETE: Autosomal recessive optic atrophy, OPA6 type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal recessive isolated optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_1625 Label(s): OBSOLETE: Deletion 4q - 'OBSOLETE: Deletion 4q' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Partial deletion of the long arm of chromosome 4' + 'OBSOLETE: Deletion 4q' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Partial deletion of the long arm of chromosome 4' Class: http://www.orpha.net/ORDO/Orphanet_235181 Label(s): potassium inwardly rectifying channel subfamily J member 5 + 'potassium inwardly rectifying channel subfamily J member 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_35098 Label(s): OBSOLETE: Isolated plagiocephaly - 'OBSOLETE: Isolated plagiocephaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic unisutural craniosynostosis' + 'OBSOLETE: Isolated plagiocephaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Non-syndromic unisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_67037 Label(s): OBSOLETE: Squamous cell carcinoma of head and neck - 'OBSOLETE: Squamous cell carcinoma of head and neck' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare otorhinolaryngologic tumor' + 'OBSOLETE: Squamous cell carcinoma of head and neck' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_261559 Label(s): OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome - 'OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' + 'OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261579 Label(s): OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations - 'OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' + 'OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159533 Label(s): delta like non-canonical Notch ligand 1 - 'delta like non-canonical Notch ligand 1' SubClassOf 'role in the phenotype of' some 'Idiopathic central precocious puberty' + 'delta like non-canonical Notch ligand 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_650097 + 'delta like non-canonical Notch ligand 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_650077 Class: http://www.orpha.net/ORDO/Orphanet_289527 Label(s): OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency - 'OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated complex I deficiency' + 'OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Isolated complex I deficiency' Class: http://www.orpha.net/ORDO/Orphanet_247145 Label(s): isocitrate dehydrogenase (NADP(+)) 2 + 'isocitrate dehydrogenase (NADP(+)) 2' SubClassOf 'disease-causing somatic mutation(s) in' some 'Acute myeloid leukaemia with myelodysplasia-related features' Class: http://www.orpha.net/ORDO/Orphanet_90185 Label(s): Non-hereditary late-onset primary lymphedema - 'Non-hereditary late-onset primary lymphedema' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Meige disease' + 'Non-hereditary late-onset primary lymphedema' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Meige disease' Class: http://www.orpha.net/ORDO/Orphanet_79132 Label(s): OBSOLETE: Sparse hair-short stature-skin anomalies syndrome - 'OBSOLETE: Sparse hair-short stature-skin anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Thumb deformity-alopecia-pigmentation anomaly syndrome' + 'OBSOLETE: Sparse hair-short stature-skin anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Thumb deformity-alopecia-pigmentation anomaly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98987 Label(s): OBSOLETE: Cataract, Hutterite type - 'OBSOLETE: Cataract, Hutterite type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset non-syndromic cataract' + 'OBSOLETE: Cataract, Hutterite type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_98983 Label(s): OBSOLETE: Congenital cataract, Volkmann type - 'OBSOLETE: Congenital cataract, Volkmann type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset non-syndromic cataract' + 'OBSOLETE: Congenital cataract, Volkmann type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_139380 Label(s): OBSOLETE: Recessive hereditary methemoglobinemia type 2 - 'OBSOLETE: Recessive hereditary methemoglobinemia type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary methemoglobinemia' + 'OBSOLETE: Recessive hereditary methemoglobinemia type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary methemoglobinemia' Class: http://www.orpha.net/ORDO/Orphanet_98968 Label(s): Central discoid corneal dystrophy - 'Central discoid corneal dystrophy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Schnyder corneal dystrophy' + 'Central discoid corneal dystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Schnyder corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2507 Label(s): OBSOLETE: Mickleson syndrome - 'OBSOLETE: Mickleson syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia' + 'OBSOLETE: Mickleson syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2506 Label(s): Michels syndrome - 'Michels syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '3MC syndrome' + 'Michels syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some '3MC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254905 Label(s): Isolated cytochrome C oxidase deficiency + 'Isolated cytochrome C oxidase deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98941 Label(s): OBSOLETE: Von Hippel anomaly - 'OBSOLETE: Von Hippel anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital glaucoma' + 'OBSOLETE: Von Hippel anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_98932 Label(s): OBSOLETE: Shy-Drager syndrome - 'OBSOLETE: Shy-Drager syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple system atrophy' + 'OBSOLETE: Shy-Drager syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple system atrophy' Class: http://www.orpha.net/ORDO/Orphanet_494348 Label(s): Early-onset familial noncirrhotic portal hypertension - 'Early-onset familial noncirrhotic portal hypertension' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Portosinusoidal vascular disease' + 'Early-onset familial noncirrhotic portal hypertension' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Portosinusoidal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_352497 Label(s): OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency - 'OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical juvenile parkinsonism' + 'OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Atypical juvenile parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_2864 Label(s): OBSOLETE: Short stature-prognathism-short femoral necks syndrome - 'OBSOLETE: Short stature-prognathism-short femoral necks syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia' + 'OBSOLETE: Short stature-prognathism-short femoral necks syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_325004 Label(s): CANDLE syndrome - 'CANDLE syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Proteasome-associated autoinflammatory syndrome' + 'CANDLE syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Proteasome-associated autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119486 Label(s): solute carrier family 40 member 1 - 'solute carrier family 40 member 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Hemochromatosis type 4' - 'solute carrier family 40 member 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Hemochromatosis type 4' + 'solute carrier family 40 member 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_648562 + 'solute carrier family 40 member 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_647834 Class: http://www.orpha.net/ORDO/Orphanet_2005 Label(s): OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome - 'OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Laryngotracheoesophageal cleft type 4' + 'OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Laryngotracheoesophageal cleft type 4' Class: http://www.orpha.net/ORDO/Orphanet_240901 Label(s): OBSOLETE: Fosphenytoin toxicity - 'OBSOLETE: Fosphenytoin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of phenytoin or carbamazepine toxicity' + 'OBSOLETE: Fosphenytoin toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_2895 Label(s): Pinsky-Di George-Harley syndrome - 'Pinsky-Di George-Harley syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Micro syndrome' + 'Pinsky-Di George-Harley syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Micro syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99817 Label(s): Non-polyposis Turcot syndrome - 'Non-polyposis Turcot syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Lynch syndrome' + 'Non-polyposis Turcot syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Lynch syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99723 Label(s): OBSOLETE: Familial esophageal achalasia - 'OBSOLETE: Familial esophageal achalasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic achalasia' + 'OBSOLETE: Familial esophageal achalasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Idiopathic achalasia' Class: http://www.orpha.net/ORDO/Orphanet_498700 Label(s): OBSOLETE: Limbic encephalitis with neurexin-3 antibodies - 'OBSOLETE: Limbic encephalitis with neurexin-3 antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Limbic encephalitis with neurexin-3 antibodies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_101052 Label(s): OBSOLETE: Microlissencephaly type B - 'OBSOLETE: Microlissencephaly type B' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Microlissencephaly' + 'OBSOLETE: Microlissencephaly type B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Microlissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_240919 Label(s): OBSOLETE: Venlafaxine toxicity - 'OBSOLETE: Venlafaxine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Venlafaxine toxicity' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_217410 Label(s): OBSOLETE: Circumscribed lymphatic malformation - 'OBSOLETE: Circumscribed lymphatic malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Macrocystic lymphatic malformation' + 'OBSOLETE: Circumscribed lymphatic malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Macrocystic lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_93217 Label(s): OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis - 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' + 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101042 Label(s): OBSOLETE: Taussig-Bing syndrome - 'OBSOLETE: Taussig-Bing syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Double outlet right ventricle with subpulmonary ventricular septal defect' + 'OBSOLETE: Taussig-Bing syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Double outlet right ventricle with subpulmonary ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_101036 Label(s): OBSOLETE: Zlotogura-Martinez syndrome - 'OBSOLETE: Zlotogura-Martinez syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Cleft lip/palate-ectodermal dysplasia syndrome' + 'OBSOLETE: Zlotogura-Martinez syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Cleft lip/palate-ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101033 Label(s): OBSOLETE: Peters anomaly-cataract syndrome - 'OBSOLETE: Peters anomaly-cataract syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Peters anomaly' + 'OBSOLETE: Peters anomaly-cataract syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Peters anomaly' Class: http://www.orpha.net/ORDO/Orphanet_466732 Label(s): OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome - 'OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'ALG9-CDG' + 'OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'ALG9-CDG' Class: http://www.orpha.net/ORDO/Orphanet_101022 Label(s): Mediterranean macrothrombocytopenia - 'Mediterranean macrothrombocytopenia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Sitosterolemia' + 'Mediterranean macrothrombocytopenia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Sitosterolemia' Class: http://www.orpha.net/ORDO/Orphanet_71516 Label(s): OBSOLETE: Mixed dystonia - 'OBSOLETE: Mixed dystonia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare dystonia' + 'OBSOLETE: Mixed dystonia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare dystonia' Class: http://www.orpha.net/ORDO/Orphanet_225123 Label(s): Hemochromatosis type 3 - 'Hemochromatosis type 3' SubClassOf 'part_of' some 'Rare hereditary hemochromatosis' + 'Hemochromatosis type 3' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_648569 Class: http://www.orpha.net/ORDO/Orphanet_356939 Label(s): beta-1,3-galactosyltransferase 6 - 'beta-1,3-galactosyltransferase 6' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Spondyloepimetaphyseal dysplasia with joint laxity' - 'beta-1,3-galactosyltransferase 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Eye defects-arachnodactyly-cardiopathy syndrome' + 'beta-1,3-galactosyltransferase 6' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_642099 Class: http://www.orpha.net/ORDO/Orphanet_396654 Label(s): NDUFA4 mitochondrial complex associated - 'NDUFA4 mitochondrial complex associated' SubClassOf 'gene with protein product' - 'NDUFA4 mitochondrial complex associated' SubClassOf 'has_chromosomal location' value "7p21.3" - 'NDUFA4 mitochondrial complex associated' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_396650 Label(s): PET100 cytochrome c oxidase chaperone - 'PET100 cytochrome c oxidase chaperone' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Leigh syndrome with leukodystrophy' - 'PET100 cytochrome c oxidase chaperone' SubClassOf 'has_chromosomal location' value "19p13.2" - 'PET100 cytochrome c oxidase chaperone' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_93578 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly - 'OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' + 'OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_95458 Label(s): OBSOLETE: Tricuspid valve prolapse - 'OBSOLETE: Tricuspid valve prolapse' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital tricuspid malformation' + 'OBSOLETE: Tricuspid valve prolapse' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_93580 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly - 'OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' + 'OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_99864 Label(s): OBSOLETE: Classic seminoma - 'OBSOLETE: Classic seminoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Testicular seminomatous germ cell tumor' + 'OBSOLETE: Classic seminoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Testicular seminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_99866 Label(s): OBSOLETE: Metastatic spermatocytic seminoma - 'OBSOLETE: Metastatic spermatocytic seminoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spermatocytic seminoma' + 'OBSOLETE: Metastatic spermatocytic seminoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Spermatocytic seminoma' Class: http://www.orpha.net/ORDO/Orphanet_97552 Label(s): Steroid-sensitive nephrotic syndrome without renal biopsy - 'Steroid-sensitive nephrotic syndrome without renal biopsy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Idiopathic steroid-sensitive nephrotic syndrome' + 'Steroid-sensitive nephrotic syndrome without renal biopsy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352504 Label(s): OBSOLETE: Levodopa-unresponsive juvenile parkinsonism - 'OBSOLETE: Levodopa-unresponsive juvenile parkinsonism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical juvenile parkinsonism' + 'OBSOLETE: Levodopa-unresponsive juvenile parkinsonism' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Atypical juvenile parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_99873 Label(s): OBSOLETE: Hand-Sch³ller-Christian disease - 'OBSOLETE: Hand-Sch³ller-Christian disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' + 'OBSOLETE: Hand-Sch³ller-Christian disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_69126 Label(s): Pyogenic arthritis-pyoderma gangrenosum-acne syndrome + 'Pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_269200 Label(s): OBSOLETE: Retrocerebellar cyst - 'OBSOLETE: Retrocerebellar cyst' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arachnoid cyst' + 'OBSOLETE: Retrocerebellar cyst' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Arachnoid cyst' Class: http://www.orpha.net/ORDO/Orphanet_97569 Label(s): OBSOLETE: Unclassified glomerulonephritis - 'OBSOLETE: Unclassified glomerulonephritis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glomerular disease' + 'OBSOLETE: Unclassified glomerulonephritis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_324933 Label(s): Mixed autoinflammatory and autoimmune syndrome - 'Mixed autoinflammatory and autoimmune syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' + 'Mixed autoinflammatory and autoimmune syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_79087 Label(s): Acquired partial lipodystrophy - 'Acquired partial lipodystrophy' SubClassOf 'part_of' some 'Progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_360230 Label(s): makorin ring finger protein 3 - 'makorin ring finger protein 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Idiopathic central precocious puberty' + 'makorin ring finger protein 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_650097 + 'makorin ring finger protein 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_650077 Class: http://www.orpha.net/ORDO/Orphanet_324924 Label(s): Hereditary periodic fever syndrome - 'Hereditary periodic fever syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' + 'Hereditary periodic fever syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_619238 Class: http://www.orpha.net/ORDO/Orphanet_99892 Label(s): ACTH-dependent Cushing syndrome - 'ACTH-dependent Cushing syndrome' SubClassOf 'Cushing syndrome' + 'ACTH-dependent Cushing syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_641613 Class: http://www.orpha.net/ORDO/Orphanet_95493 Label(s): OBSOLETE: Abnormal origin or aberrant course of coronary artery - 'OBSOLETE: Abnormal origin or aberrant course of coronary artery' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anomalous aortic origin of coronary artery' + 'OBSOLETE: Abnormal origin or aberrant course of coronary artery' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Anomalous aortic origin of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_95496 Label(s): Pituitary stalk interruption syndrome + 'Pituitary stalk interruption syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169399 Label(s): NADH:ubiquinone oxidoreductase complex assembly factor 6 - 'NADH:ubiquinone oxidoreductase complex assembly factor 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_169395 Label(s): NADH:ubiquinone oxidoreductase complex assembly factor 5 - 'NADH:ubiquinone oxidoreductase complex assembly factor 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_366823 Label(s): paired box 5 - 'paired box 5' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' - 'paired box 5' SubClassOf 'major susceptibility factor in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'paired box 5' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_641372 Class: http://www.orpha.net/ORDO/Orphanet_100990 Label(s): OBSOLETE: Autosomal dominant spastic paraplegia type 9 - 'OBSOLETE: Autosomal dominant spastic paraplegia type 9' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant complex spastic paraplegia' + 'OBSOLETE: Autosomal dominant spastic paraplegia type 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_2458 Label(s): OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome - 'OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia' + 'OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2453 Label(s): Malpuech syndrome - 'Malpuech syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '3MC syndrome' + 'Malpuech syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some '3MC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90070 Label(s): OBSOLETE: Methotrexate poisoning - 'OBSOLETE: Methotrexate poisoning' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Methotrexate toxicity' + 'OBSOLETE: Methotrexate poisoning' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Methotrexate toxicity' Class: http://www.orpha.net/ORDO/Orphanet_123031 Label(s): LEM domain containing 3 - 'LEM domain containing 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Buschke-Ollendorff syndrome' Class: http://www.orpha.net/ORDO/Orphanet_56965 Label(s): Progressive bulbar paralysis of childhood - 'Progressive bulbar paralysis of childhood' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Riboflavin transporter deficiency' + 'Progressive bulbar paralysis of childhood' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Riboflavin transporter deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79022 Label(s): Simpson-Golabi-Behmel syndrome type 2 - 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_2431 Label(s): Central bilateral macrogyria - 'Central bilateral macrogyria' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Bilateral perisylvian polymicrogyria' + 'Central bilateral macrogyria' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Bilateral perisylvian polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_90055 Label(s): OBSOLETE: Rejection after corneal transplantation - 'OBSOLETE: Rejection after corneal transplantation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Complication after organ transplantation' + 'OBSOLETE: Rejection after corneal transplantation' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Complication after organ transplantation' Class: http://www.orpha.net/ORDO/Orphanet_98866 Label(s): OBSOLETE: Spherocytic elliptocytosis - 'OBSOLETE: Spherocytic elliptocytosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary elliptocytosis' + 'OBSOLETE: Spherocytic elliptocytosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98865 Label(s): Homozygous hereditary elliptocytosis - 'Homozygous hereditary elliptocytosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hereditary elliptocytosis' + 'Homozygous hereditary elliptocytosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98864 Label(s): Common hereditary elliptocytosis - 'Common hereditary elliptocytosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hereditary elliptocytosis' + 'Common hereditary elliptocytosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98861 Label(s): Primary ciliary dyskinesia, Kartagener type - 'Primary ciliary dyskinesia, Kartagener type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Primary ciliary dyskinesia' + 'Primary ciliary dyskinesia, Kartagener type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_276249 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group A - 'OBSOLETE: Xeroderma pigmentosum complementation group A' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' + 'OBSOLETE: Xeroderma pigmentosum complementation group A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_329341 Label(s): OBSOLETE: Limbic encephalitis with DPP6 antibodies - 'OBSOLETE: Limbic encephalitis with DPP6 antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' + 'OBSOLETE: Limbic encephalitis with DPP6 antibodies' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_90022 Label(s): OBSOLETE: Cardiomyopathy-renal anomalies syndrome - 'OBSOLETE: Cardiomyopathy-renal anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cardiomyopathy' + 'OBSOLETE: Cardiomyopathy-renal anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_370114 Label(s): Combined cervical dystonia - 'Combined cervical dystonia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Ataxia-telangiectasia variant' + 'Combined cervical dystonia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Ataxia-telangiectasia variant' Class: http://www.orpha.net/ORDO/Orphanet_98837 Label(s): Acute biphenotypic leukemia - 'Acute biphenotypic leukemia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Mixed phenotype acute leukemia' + 'Acute biphenotypic leukemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Mixed phenotype acute leukemia' Class: http://www.orpha.net/ORDO/Orphanet_264750 Label(s): OBSOLETE: Langerhans cell histiocytosis specific to adulthood - 'OBSOLETE: Langerhans cell histiocytosis specific to adulthood' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' + 'OBSOLETE: Langerhans cell histiocytosis specific to adulthood' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98069 Label(s): OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy - 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant cerebellar ataxia' + 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autosomal dominant cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_98808 Label(s): Autosomal dominant dopa-responsive dystonia + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_140450 Label(s): OBSOLETE: Hereditary motor and sensory neuropathy - 'OBSOLETE: Hereditary motor and sensory neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy' + 'OBSOLETE: Hereditary motor and sensory neuropathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_422551 Label(s): collagen type XXV alpha 1 chain + 'collagen type XXV alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital fibrosis of extraocular muscles' Class: http://www.orpha.net/ORDO/Orphanet_140462 Label(s): OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy - 'OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked Charcot-Marie-Tooth disease' + 'OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'X-linked Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_264724 Label(s): OBSOLETE: Langerhans cell histiocytosis specific to childhood - 'OBSOLETE: Langerhans cell histiocytosis specific to childhood' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' + 'OBSOLETE: Langerhans cell histiocytosis specific to childhood' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_2998 Label(s): Carnevale syndrome - 'Carnevale syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '3MC syndrome' + 'Carnevale syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some '3MC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178345 Label(s): Aromatase excess syndrome - 'Aromatase excess syndrome' SubClassOf 'part_of' some 'Precocious puberty in female' + 'Aromatase excess syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_650187 Class: http://www.orpha.net/ORDO/Orphanet_98580 Label(s): OBSOLETE: Palpebral tumor - 'OBSOLETE: Palpebral tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' + 'OBSOLETE: Palpebral tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_217315 Label(s): Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome - 'Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Primary non-essential cutis verticis gyrata' + 'Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Primary non-essential cutis verticis gyrata' Class: http://www.orpha.net/ORDO/Orphanet_98620 Label(s): OBSOLETE: Syndromic myopia - 'OBSOLETE: Syndromic myopia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare refraction anomaly' + 'OBSOLETE: Syndromic myopia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare refraction anomaly' Class: http://www.orpha.net/ORDO/Orphanet_324989 Label(s): OBSOLETE: Juvenile-onset SAPHO syndrome - 'OBSOLETE: Juvenile-onset SAPHO syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'SAPHO syndrome' + 'OBSOLETE: Juvenile-onset SAPHO syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'SAPHO syndrome' Class: http://www.orpha.net/ORDO/Orphanet_422519 Label(s): OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency - 'OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' + 'OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' Class: http://www.orpha.net/ORDO/Orphanet_93604 Label(s): OBSOLETE: Antenatal Bartter syndrome - 'OBSOLETE: Antenatal Bartter syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Bartter syndrome' + 'OBSOLETE: Antenatal Bartter syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352487 Label(s): Digital anomalies-intellectual disability-short stature syndrome - 'Digital anomalies-intellectual disability-short stature syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MEND syndrome' + 'Digital anomalies-intellectual disability-short stature syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'MEND syndrome' Class: http://www.orpha.net/ORDO/Orphanet_481475 Label(s): OBSOLETE: Gastric neuroendocrine tumor type 2 - 'OBSOLETE: Gastric neuroendocrine tumor type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuroendocrine tumor of stomach' + 'OBSOLETE: Gastric neuroendocrine tumor type 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Neuroendocrine tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_352482 Label(s): OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement - 'OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'ISPD-related limb-girdle muscular dystrophy R20' + 'OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'ISPD-related limb-girdle muscular dystrophy R20' Class: http://www.orpha.net/ORDO/Orphanet_26 Label(s): Methylmalonic acidemia with homocystinuria + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314946 Label(s): OBSOLETE: Mycobacterium xenopi infection - 'OBSOLETE: Mycobacterium xenopi infection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pulmonary non-tuberculous mycobacterial infection' + 'OBSOLETE: Mycobacterium xenopi infection' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Pulmonary non-tuberculous mycobacterial infection' Class: http://www.orpha.net/ORDO/Orphanet_120776 Label(s): cytochrome c oxidase assembly homolog COX15 - 'cytochrome c oxidase assembly homolog COX15' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_120770 Label(s): coenzyme Q2, polyprenyltransferase - 'coenzyme Q2, polyprenyltransferase' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101978 Label(s): OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells - 'OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency predominantly affecting antibody production' + 'OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_436871 Label(s): lanosterol synthase + 'lanosterol synthase' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' Class: http://www.orpha.net/ORDO/Orphanet_68388 Label(s): OBSOLETE: Neurofibromatosis - 'OBSOLETE: Neurofibromatosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Malformation syndrome with hamartosis' + 'OBSOLETE: Neurofibromatosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Malformation syndrome with hamartosis' Class: http://www.orpha.net/ORDO/Orphanet_2816 Label(s): Spastic paraplegia-epilepsy-intellectual disability syndrome - 'Spastic paraplegia-epilepsy-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Classic glucose transporter type 1 deficiency syndrome' + 'Spastic paraplegia-epilepsy-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Classic glucose transporter type 1 deficiency syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93668 Label(s): OBSOLETE: Adult chronic recurrent multifocal osteomyelitis - 'OBSOLETE: Adult chronic recurrent multifocal osteomyelitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' + 'OBSOLETE: Adult chronic recurrent multifocal osteomyelitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_363543 Label(s): Autosomal recessive limb-girdle muscular dystrophy type 2R - 'Autosomal recessive limb-girdle muscular dystrophy type 2R' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Desminopathy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2R' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Desminopathy' Class: http://www.orpha.net/ORDO/Orphanet_120736 Label(s): collagen type VI alpha 3 chain + 'collagen type VI alpha 3 chain' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_646098 + 'collagen type VI alpha 3 chain' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_646113 Class: http://www.orpha.net/ORDO/Orphanet_120734 Label(s): collagen type VI alpha 2 chain + 'collagen type VI alpha 2 chain' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_646098 + 'collagen type VI alpha 2 chain' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_646113 Class: http://www.orpha.net/ORDO/Orphanet_120732 Label(s): collagen type VI alpha 1 chain + 'collagen type VI alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_646098 + 'collagen type VI alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_646113 Class: http://www.orpha.net/ORDO/Orphanet_159394 Label(s): tubulin alpha 1a + 'tubulin alpha 1a' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital fibrosis of extraocular muscles' Class: http://www.orpha.net/ORDO/Orphanet_93682 Label(s): OBSOLETE: Pediatric Castleman disease - 'OBSOLETE: Pediatric Castleman disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Castleman disease' + 'OBSOLETE: Pediatric Castleman disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_93686 Label(s): OBSOLETE: Multicentric Castleman disease - 'OBSOLETE: Multicentric Castleman disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Castleman disease' + 'OBSOLETE: Multicentric Castleman disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_139477 Label(s): Al-Gazali-Dattani syndrome - 'Al-Gazali-Dattani syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'SRD5A3-CDG' + 'Al-Gazali-Dattani syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'SRD5A3-CDG' Class: http://www.orpha.net/ORDO/Orphanet_120713 Label(s): collagen type III alpha 1 chain + 'collagen type III alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_636941 Class: http://www.orpha.net/ORDO/Orphanet_3008 Label(s): Pyruvate carboxylase deficiency + 'Pyruvate carboxylase deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_238691 Label(s): OBSOLETE: Congenital liver hemangioma - 'OBSOLETE: Congenital liver hemangioma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital hemangioma' + 'OBSOLETE: Congenital liver hemangioma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Congenital hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_241023 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to cisatracurium treatment - 'OBSOLETE: Susceptibility to prolonged paralysis due to cisatracurium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Susceptibility to prolonged paralysis due to cisatracurium treatment' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_3027 Label(s): Caudal regression syndrome + 'Caudal regression syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_645202 Class: http://www.orpha.net/ORDO/Orphanet_3043 Label(s): OBSOLETE: Intellectual disability-unusual facies syndrome - 'OBSOLETE: Intellectual disability-unusual facies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' + 'OBSOLETE: Intellectual disability-unusual facies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_254793 Label(s): OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA - 'OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' + 'OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' Class: http://www.orpha.net/ORDO/Orphanet_2765 Label(s): OBSOLETE: Hypertrichotic osteochondrodysplasia - 'OBSOLETE: Hypertrichotic osteochondrodysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Cantú syndrome' + 'OBSOLETE: Hypertrichotic osteochondrodysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Cantú syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3315 Label(s): OBSOLETE: Thiopurine S-methyltransferase deficiency - 'OBSOLETE: Thiopurine S-methyltransferase deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Thiopurine S-methyltransferase deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_3056 Label(s): X-linked intellectual disability, Brooks type - 'X-linked intellectual disability, Brooks type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Non-specific syndromic intellectual disability' + 'X-linked intellectual disability, Brooks type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_292297 Label(s): SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Blepharophimosis-intellectual disability syndrome, Ohdo type' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_637013 Class: http://www.orpha.net/ORDO/Orphanet_3061 Label(s): OBSOLETE: X-linked intellectual disability, Raynaud type - 'OBSOLETE: X-linked intellectual disability, Raynaud type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked non-syndromic intellectual disability' + 'OBSOLETE: X-linked intellectual disability, Raynaud type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3067 Label(s): OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome - 'OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93937 Label(s): OBSOLETE: Terminal transverse defects of arm - 'OBSOLETE: Terminal transverse defects of arm' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' + 'OBSOLETE: Terminal transverse defects of arm' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_412573 Label(s): spermidine/spermine N1-acetyltransferase 1 + 'spermidine/spermine N1-acetyltransferase 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Pediatric systemic lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_2357 Label(s): Bronchogenic cyst - 'Bronchogenic cyst' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Bronchogenic cyst' SubClassOf 'part_of' some 'Respiratory malformation' + 'Bronchogenic cyst' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_649014 Class: http://www.orpha.net/ORDO/Orphanet_3084 Label(s): Mirhosseini-Holmes-Walton syndrome - 'Mirhosseini-Holmes-Walton syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cohen syndrome' + 'Mirhosseini-Holmes-Walton syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Cohen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3087 Label(s): Retinohepatoendocrinologic syndrome - 'Retinohepatoendocrinologic syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alström syndrome' + 'Retinohepatoendocrinologic syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Alström syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319314 Label(s): OBSOLETE: Renal cell carcinoma associated with neuroblastoma - 'OBSOLETE: Renal cell carcinoma associated with neuroblastoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Renal cell carcinoma' + 'OBSOLETE: Renal cell carcinoma associated with neuroblastoma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_2116 Label(s): Hartnup disease + 'Hartnup disease' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98788 Label(s): Pitt-Rogers-Danks syndrome - 'Pitt-Rogers-Danks syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Wolf-Hirschhorn syndrome' + 'Pitt-Rogers-Danks syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Wolf-Hirschhorn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98322 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure - 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98770 Label(s): Spinocerebellar ataxia type 16 - 'Spinocerebellar ataxia type 16' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Spinocerebellar ataxia type 15/16' + 'Spinocerebellar ataxia type 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Spinocerebellar ataxia type 15/16' Class: http://www.orpha.net/ORDO/Orphanet_254723 Label(s): Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome - 'Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'H syndrome' + 'Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'H syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98113 Label(s): OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly - 'OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Cystic fibrosis' + 'OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Cystic fibrosis' Class: http://www.orpha.net/ORDO/Orphanet_98115 Label(s): OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly - 'OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Thomsen and Becker disease' + 'OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Thomsen and Becker disease' Class: http://www.orpha.net/ORDO/Orphanet_52428 Label(s): Congenital muscular dystrophy type 1C - 'Congenital muscular dystrophy type 1C' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy type 1C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_329255 Label(s): Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency - 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Oculocerebrofacial syndrome, Kaufman type' + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Oculocerebrofacial syndrome, Kaufman type' Class: http://www.orpha.net/ORDO/Orphanet_329252 Label(s): OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome - 'OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with predominant vertebral and costal involvement' + 'OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_98753 Label(s): OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect - 'OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune neurological channelopathy' + 'OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune neurological channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_98752 Label(s): OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect - 'OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune neurological channelopathy' + 'OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune neurological channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_98751 Label(s): OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect - 'OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune neurological channelopathy' + 'OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Autoimmune neurological channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_254707 Label(s): Faisalabad histiocytosis - 'Faisalabad histiocytosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'H syndrome' + 'Faisalabad histiocytosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'H syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98336 Label(s): OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection - 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' + 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_1137 Label(s): OBSOLETE: Pulmonary aortic stenosis obstructive uropathy - 'OBSOLETE: Pulmonary aortic stenosis obstructive uropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'OBSOLETE: Pulmonary aortic stenosis obstructive uropathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98734 Label(s): OBSOLETE: Cardioskeletal syndrome - 'OBSOLETE: Cardioskeletal syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome' + 'OBSOLETE: Cardioskeletal syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98732 Label(s): OBSOLETE: Syndrome associated with a congenital cardiopathy - 'OBSOLETE: Syndrome associated with a congenital cardiopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndrome with cardiac malformations' + 'OBSOLETE: Syndrome associated with a congenital cardiopathy' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_370006 Label(s): Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome - 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' + 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_C056 some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_98730 Label(s): OBSOLETE: Atrioventricular discordance - 'OBSOLETE: Atrioventricular discordance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Criss-cross heart' + 'OBSOLETE: Atrioventricular discordance' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some 'Criss-cross heart' Class: http://www.orpha.net/ORDO/Orphanet_139491 Label(s): Hemochromatosis type 4 - 'Hemochromatosis type 4' SubClassOf 'part_of' some 'Rare hereditary hemochromatosis' - 'Hemochromatosis type 4' SubClassOf 'disease' - 'Hemochromatosis type 4' SubClassOf 'disorder' + 'Hemochromatosis type 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C057 some http://www.orpha.net/ORDO/Orphanet_647834 + 'Hemochromatosis type 4' SubClassOf 'obsolete disorder' ################ @Classes new to this version Class: http://www.orpha.net/ORDO/Orphanet_632514 Label(s): cilia and flagella associated protein 74 + 'cilia and flagella associated protein 74' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'cilia and flagella associated protein 74' SubClassOf 'has_chromosomal location' value "1p36.33" + 'cilia and flagella associated protein 74' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_613338 Label(s): HEAT repeat containing 3 + 'HEAT repeat containing 3' SubClassOf 'gene with protein product' + 'HEAT repeat containing 3' SubClassOf 'has_chromosomal location' value "16q12.1" + 'HEAT repeat containing 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Diamond-Blackfan anemia' Class: http://www.orpha.net/ORDO/Orphanet_594489 Label(s): interleukin 6 receptor + 'interleukin 6 receptor' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome' + 'interleukin 6 receptor' SubClassOf 'has_chromosomal location' value "1q21.3" + 'interleukin 6 receptor' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_494881 Label(s): cyclin dependent kinase 13 + 'cyclin dependent kinase 13' SubClassOf 'gene with protein product' + 'cyclin dependent kinase 13' SubClassOf 'has_chromosomal location' value "7p14.1" + 'cyclin dependent kinase 13' SubClassOf 'disease-causing germline mutation(s) in' some 'CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_594424 Label(s): FCH and mu domain containing endocytic adaptor 1 + 'FCH and mu domain containing endocytic adaptor 1' SubClassOf 'gene with protein product' + 'FCH and mu domain containing endocytic adaptor 1' SubClassOf 'has_chromosomal location' value "19p13.11" + 'FCH and mu domain containing endocytic adaptor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to FCHO1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_641390 Label(s): PsAPASH syndrome + 'PsAPASH syndrome' SubClassOf 'disease' + 'PsAPASH syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'PsAPASH syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' + 'PsAPASH syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' + 'PsAPASH syndrome' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' + 'PsAPASH syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_642099 Label(s): Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type + 'Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' + 'Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_642085 Label(s): Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type + 'Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' + 'Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type' SubClassOf 'disorder' + 'Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_642071 Label(s): Primary pulmonary vein stenosis + 'Primary pulmonary vein stenosis' SubClassOf 'disorder' + 'Primary pulmonary vein stenosis' SubClassOf 'disease' + 'Primary pulmonary vein stenosis' SubClassOf 'part_of' some 'Congenital pulmonary veins atresia or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_639343 Label(s): Rab interacting lysosomal protein like 1 + 'Rab interacting lysosomal protein like 1' SubClassOf 'has_chromosomal location' value "12q24.31" + 'Rab interacting lysosomal protein like 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Oculopharyngodistal myopathy' + 'Rab interacting lysosomal protein like 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_493669 Label(s): semaphorin 6B + 'semaphorin 6B' SubClassOf 'gene with protein product' + 'semaphorin 6B' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'semaphorin 6B' SubClassOf 'has_chromosomal location' value "19p13.3" Class: http://www.orpha.net/ORDO/Orphanet_642013 Label(s): OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor + 'OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor' SubClassOf 'Referred to' some 'Adrenal Cushing syndrome' + 'OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_504745 Label(s): geranylgeranyl diphosphate synthase 1 + 'geranylgeranyl diphosphate synthase 1' SubClassOf 'gene with protein product' + 'geranylgeranyl diphosphate synthase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Perrault syndrome type 1' + 'geranylgeranyl diphosphate synthase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Perrault syndrome type 2' + 'geranylgeranyl diphosphate synthase 1' SubClassOf 'has_chromosomal location' value "1q42.3" Class: http://www.orpha.net/ORDO/Orphanet_619238 Label(s): Rare hereditary autoinflammatory disease + 'Rare hereditary autoinflammatory disease' SubClassOf 'Rare genetic systemic or rheumatologic disease' + 'Rare hereditary autoinflammatory disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_641829 Label(s): Neonatal compartment syndrome + 'Neonatal compartment syndrome' SubClassOf 'disorder' + 'Neonatal compartment syndrome' SubClassOf 'Clinical syndrome' + 'Neonatal compartment syndrome' SubClassOf 'part_of' some 'Non-inflammatory vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_469930 Label(s): argonaute RISC component 1 + 'argonaute RISC component 1' SubClassOf 'gene with protein product' + 'argonaute RISC component 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'argonaute RISC component 1' SubClassOf 'has_chromosomal location' value "1p34.3" Class: http://www.orpha.net/ORDO/Orphanet_643503 Label(s): Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome + 'Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome' SubClassOf 'disorder' + 'Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome' SubClassOf 'disease' + 'Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_643549 Label(s): Hao-Fountain syndrome + 'Hao-Fountain syndrome' SubClassOf 'disease' + 'Hao-Fountain syndrome' SubClassOf 'disorder' + 'Hao-Fountain syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_566826 Label(s): zinc finger protein 341 + 'zinc finger protein 341' SubClassOf 'has_chromosomal location' value "20q11.22" + 'zinc finger protein 341' SubClassOf 'gene with protein product' + 'zinc finger protein 341' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_600645 Label(s): tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta' SubClassOf 'has_chromosomal location' value "8q22.3" + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_615739 Label(s): ladybird homeobox 1 + 'ladybird homeobox 1' SubClassOf 'has_chromosomal location' value "10q24.32" + 'ladybird homeobox 1' SubClassOf 'gene with protein product' + 'ladybird homeobox 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital central hypoventilation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_641372 Label(s): B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) + 'B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)' SubClassOf 'subtype of a disorder' + 'B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_641375 Label(s): B-lymphoblastic leukemia/lymphoma with t(17;19) + 'B-lymphoblastic leukemia/lymphoma with t(17;19)' SubClassOf 'subtype of a disorder' + 'B-lymphoblastic leukemia/lymphoma with t(17;19)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_641378 Label(s): exosome component 5 + 'exosome component 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome' + 'exosome component 5' SubClassOf 'has_chromosomal location' value "19q13.2" + 'exosome component 5' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_650082 Label(s): Secondary central precocious puberty in female + 'Secondary central precocious puberty in female' SubClassOf 'disorder' + 'Secondary central precocious puberty in female' SubClassOf 'disease' + 'Secondary central precocious puberty in female' SubClassOf 'part_of' some 'Rare central precocious puberty in female' Class: http://www.orpha.net/ORDO/Orphanet_597034 Label(s): NME/NM23 family member 5 + 'NME/NM23 family member 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'NME/NM23 family member 5' SubClassOf 'has_chromosomal location' value "5q31.2" + 'NME/NM23 family member 5' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_597032 Label(s): cell cycle associated protein 1 + 'cell cycle associated protein 1' SubClassOf 'has_chromosomal location' value "11p13" + 'cell cycle associated protein 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'cell cycle associated protein 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_600321 Label(s): RIC1 homolog, RAB6A GEF complex partner 1 + 'RIC1 homolog, RAB6A GEF complex partner 1' SubClassOf 'has_chromosomal location' value "9p24.1" + 'RIC1 homolog, RAB6A GEF complex partner 1' SubClassOf 'major susceptibility factor in' some 'Cleft lip/palate' + 'RIC1 homolog, RAB6A GEF complex partner 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_649971 Label(s): calcitonin receptor like receptor + 'calcitonin receptor like receptor' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-immune hydrops fetalis' + 'calcitonin receptor like receptor' SubClassOf 'gene with protein product' + 'calcitonin receptor like receptor' SubClassOf 'has_chromosomal location' value "2q32.1" Class: http://www.orpha.net/ORDO/Orphanet_649959 Label(s): ribosomal protein L3 like + 'ribosomal protein L3 like' SubClassOf 'has_chromosomal location' value "16p13.3" + 'ribosomal protein L3 like' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'ribosomal protein L3 like' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_495760 Label(s): tryptophanyl-tRNA synthetase 1 + 'tryptophanyl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'tryptophanyl-tRNA synthetase 1' SubClassOf 'gene with protein product' + 'tryptophanyl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'tryptophanyl-tRNA synthetase 1' SubClassOf 'has_chromosomal location' value "14q32.2" Class: http://www.orpha.net/ORDO/Orphanet_649929 Label(s): Central precocious puberty in male + 'Central precocious puberty in male' SubClassOf 'group of disorders' + 'Central precocious puberty in male' SubClassOf 'Rare central precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_600475 Label(s): SR-related CTD associated factor 4 + 'SR-related CTD associated factor 4' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'SR-related CTD associated factor 4' SubClassOf 'gene with protein product' + 'SR-related CTD associated factor 4' SubClassOf 'has_chromosomal location' value "21q22.11" Class: http://www.orpha.net/ORDO/Orphanet_572405 Label(s): DExH-box helicase 30 + 'DExH-box helicase 30' SubClassOf 'gene with protein product' + 'DExH-box helicase 30' SubClassOf 'has_chromosomal location' value "3p21.31" + 'DExH-box helicase 30' SubClassOf 'disease-causing germline mutation(s) in' some 'Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome' Class: http://www.orpha.net/ORDO/Orphanet_649879 Label(s): diphthamide biosynthesis 2 + 'diphthamide biosynthesis 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome' + 'diphthamide biosynthesis 2' SubClassOf 'gene with protein product' + 'diphthamide biosynthesis 2' SubClassOf 'has_chromosomal location' value "1p34.1" Class: http://www.orpha.net/ORDO/Orphanet_317857 Label(s): cAMP responsive element binding protein 3 like 3 + 'cAMP responsive element binding protein 3 like 3' SubClassOf 'has_chromosomal location' value "19p13.3" + 'cAMP responsive element binding protein 3 like 3' SubClassOf 'gene with protein product' + 'cAMP responsive element binding protein 3 like 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Transient infantile hypertriglyceridemia and hepatosteatosis' Class: http://www.orpha.net/ORDO/Orphanet_471030 Label(s): sodium channel and clathrin linker 1 + 'sodium channel and clathrin linker 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'sodium channel and clathrin linker 1' SubClassOf 'has_chromosomal location' value "4q28.2" + 'sodium channel and clathrin linker 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_600439 Label(s): protein phosphatase 2 catalytic subunit alpha + 'protein phosphatase 2 catalytic subunit alpha' SubClassOf 'has_chromosomal location' value "5q31.1" + 'protein phosphatase 2 catalytic subunit alpha' SubClassOf 'gene with protein product' + 'protein phosphatase 2 catalytic subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_471004 Label(s): ribosomal protein L9 + 'ribosomal protein L9' SubClassOf 'gene with protein product' + 'ribosomal protein L9' SubClassOf 'disease-causing germline mutation(s) in' some 'Diamond-Blackfan anemia' + 'ribosomal protein L9' SubClassOf 'has_chromosomal location' value "4p14" Class: http://www.orpha.net/ORDO/Orphanet_636970 Label(s): Autosomal recessive myosin storage myopathy + 'Autosomal recessive myosin storage myopathy' SubClassOf 'subtype of a disorder' + 'Autosomal recessive myosin storage myopathy' SubClassOf 'part_of' some 'Myosin storage myopathy' Class: http://www.orpha.net/ORDO/Orphanet_641396 Label(s): Central nervous system tuberculosis + 'Central nervous system tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' + 'Central nervous system tuberculosis' SubClassOf 'part_of' some 'Infectious disease of the nervous system' + 'Central nervous system tuberculosis' SubClassOf 'disorder' + 'Central nervous system tuberculosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_641613 Label(s): Endogenous Cushing syndrome + 'Endogenous Cushing syndrome' SubClassOf 'group of disorders' + 'Endogenous Cushing syndrome' SubClassOf 'Rare adrenal disease' Class: http://www.orpha.net/ORDO/Orphanet_648265 Label(s): signal recognition particle 19 + 'signal recognition particle 19' SubClassOf 'gene with protein product' + 'signal recognition particle 19' SubClassOf 'has_chromosomal location' value "5q22.2" + 'signal recognition particle 19' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_649855 Label(s): nescient helix-loop-helix 2 + 'nescient helix-loop-helix 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'nescient helix-loop-helix 2' SubClassOf 'gene with protein product' + 'nescient helix-loop-helix 2' SubClassOf 'has_chromosomal location' value "1p13.1" Class: http://www.orpha.net/ORDO/Orphanet_650092 Label(s): Secondary central precocious puberty in male + 'Secondary central precocious puberty in male' SubClassOf 'disorder' + 'Secondary central precocious puberty in male' SubClassOf 'disease' + 'Secondary central precocious puberty in male' SubClassOf 'part_of' some 'Central precocious puberty in male' Class: http://www.orpha.net/ORDO/Orphanet_641496 Label(s): Childhood-onset schizophrenia + 'Childhood-onset schizophrenia' SubClassOf 'disease' + 'Childhood-onset schizophrenia' SubClassOf 'disorder' + 'Childhood-onset schizophrenia' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' Class: http://www.orpha.net/ORDO/Orphanet_649862 Label(s): thrombospondin type 1 domain containing 4 + 'thrombospondin type 1 domain containing 4' SubClassOf 'has_chromosomal location' value "15q23" + 'thrombospondin type 1 domain containing 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' + 'thrombospondin type 1 domain containing 4' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_649843 Label(s): LDL receptor related protein 12 + 'LDL receptor related protein 12' SubClassOf 'disease-causing germline mutation(s) in' some 'Oculopharyngodistal myopathy' + 'LDL receptor related protein 12' SubClassOf 'has_chromosomal location' value "8q22.3" + 'LDL receptor related protein 12' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_648569 Label(s): Non-HFE-related hemochromatosis + 'Non-HFE-related hemochromatosis' SubClassOf 'group of disorders' + 'Non-HFE-related hemochromatosis' SubClassOf 'Rare hereditary hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_649920 Label(s): NUAK family kinase 2 + 'NUAK family kinase 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Isolated anencephaly' + 'NUAK family kinase 2' SubClassOf 'has_chromosomal location' value "1q32.1" + 'NUAK family kinase 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_645325 Label(s): Isolated filum lipoma + 'Isolated filum lipoma' SubClassOf 'part_of' some 'Fibrolipomatous filum anomaly' + 'Isolated filum lipoma' SubClassOf 'disorder' + 'Isolated filum lipoma' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_600279 Label(s): GS homeobox 2 + 'GS homeobox 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Diencephalic-mesencephalic junction dysplasia' + 'GS homeobox 2' SubClassOf 'has_chromosomal location' value "4q12" + 'GS homeobox 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_641385 Label(s): PASS syndrome + 'PASS syndrome' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' + 'PASS syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' + 'PASS syndrome' SubClassOf 'disorder' + 'PASS syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'PASS syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' + 'PASS syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_641380 Label(s): PAPASH syndrome + 'PAPASH syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'PAPASH syndrome' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' + 'PAPASH syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' + 'PAPASH syndrome' SubClassOf 'disease' + 'PAPASH syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' + 'PAPASH syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_470690 Label(s): mutS homolog 5 + 'mutS homolog 5' SubClassOf 'has_chromosomal location' value "6p21.33" + 'mutS homolog 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'mutS homolog 5' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_641368 Label(s): Autosomal recessive hyper-IgE syndrome + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'disorder' + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'disease' + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'part_of' some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_641361 Label(s): Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome + 'Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome' SubClassOf 'disease' + 'Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome' SubClassOf 'disorder' + 'Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_641353 Label(s): Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome + 'Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome' SubClassOf 'disease' + 'Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_641350 Label(s): Immunotherapy induced hypophysitis + 'Immunotherapy induced hypophysitis' SubClassOf 'part_of' some 'Acquired pituitary hormone deficiency' + 'Immunotherapy induced hypophysitis' SubClassOf 'disorder' + 'Immunotherapy induced hypophysitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_641343 Label(s): Imprinting disorders + 'Imprinting disorders' SubClassOf 'Rare genetic disease' + 'Imprinting disorders' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_565949 Label(s): gamma-aminobutyric acid type B receptor subunit 1 + 'gamma-aminobutyric acid type B receptor subunit 1' SubClassOf 'gene with protein product' + 'gamma-aminobutyric acid type B receptor subunit 1' SubClassOf 'has_chromosomal location' value "6p22.1" + 'gamma-aminobutyric acid type B receptor subunit 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_594773 Label(s): SPT16 homolog, facilitates chromatin remodeling subunit + 'SPT16 homolog, facilitates chromatin remodeling subunit' SubClassOf 'gene with protein product' + 'SPT16 homolog, facilitates chromatin remodeling subunit' SubClassOf 'role in the phenotype of' some '14q11.2 microduplication syndrome' + 'SPT16 homolog, facilitates chromatin remodeling subunit' SubClassOf 'has_chromosomal location' value "14q11.2" Class: http://www.orpha.net/ORDO/Orphanet_648992 Label(s): Non-syndromic bridging bronchus + 'Non-syndromic bridging bronchus' SubClassOf 'part_of' some 'Bronchial malformation' + 'Non-syndromic bridging bronchus' SubClassOf 'disorder' + 'Non-syndromic bridging bronchus' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_600168 Label(s): VPS35 endosomal protein sorting factor like + 'VPS35 endosomal protein sorting factor like' SubClassOf 'disease-causing germline mutation(s) in' some '3C syndrome' + 'VPS35 endosomal protein sorting factor like' SubClassOf 'has_chromosomal location' value "16p12.3" + 'VPS35 endosomal protein sorting factor like' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_400662 Label(s): STAG3 cohesin complex component + 'STAG3 cohesin complex component' SubClassOf 'has_chromosomal location' value "7q22.1" + 'STAG3 cohesin complex component' SubClassOf 'gene with protein product' + 'STAG3 cohesin complex component' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_615260 Label(s): septin 4 + 'septin 4' SubClassOf 'gene with protein product' + 'septin 4' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Male infertility due to globozoospermia' + 'septin 4' SubClassOf 'has_chromosomal location' value "17q22" Class: http://www.orpha.net/ORDO/Orphanet_615220 Label(s): yrdC N6-threonylcarbamoyltransferase domain containing + 'yrdC N6-threonylcarbamoyltransferase domain containing' SubClassOf 'disease-causing germline mutation(s) in' some 'Galloway-Mowat syndrome' + 'yrdC N6-threonylcarbamoyltransferase domain containing' SubClassOf 'gene with protein product' + 'yrdC N6-threonylcarbamoyltransferase domain containing' SubClassOf 'has_chromosomal location' value "1p34.3" Class: http://www.orpha.net/ORDO/Orphanet_636965 Label(s): Autosomal dominant myosin storage myopathy + 'Autosomal dominant myosin storage myopathy' SubClassOf 'part_of' some 'Myosin storage myopathy' + 'Autosomal dominant myosin storage myopathy' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_636955 Label(s): Endemic pemphigus foliaceus + 'Endemic pemphigus foliaceus' SubClassOf 'part_of' some 'Superficial pemphigus' + 'Endemic pemphigus foliaceus' SubClassOf 'disorder' + 'Endemic pemphigus foliaceus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_636950 Label(s): Glaucomatocyclitic crisis disease + 'Glaucomatocyclitic crisis disease' SubClassOf 'disorder' + 'Glaucomatocyclitic crisis disease' SubClassOf 'part_of' some 'Rare disorder involving multiple structures of the eye' + 'Glaucomatocyclitic crisis disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_636945 Label(s): Invasive Candidiasis + 'Invasive Candidiasis' SubClassOf 'disease' + 'Invasive Candidiasis' SubClassOf 'disorder' + 'Invasive Candidiasis' SubClassOf 'part_of' some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_636941 Label(s): Vascular Ehlers-Danlos-polymicrogyria syndrome + 'Vascular Ehlers-Danlos-polymicrogyria syndrome' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' + 'Vascular Ehlers-Danlos-polymicrogyria syndrome' SubClassOf 'disorder' + 'Vascular Ehlers-Danlos-polymicrogyria syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_614986 Label(s): pyruvate dehydrogenase E1 subunit alpha 2 + 'pyruvate dehydrogenase E1 subunit alpha 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'pyruvate dehydrogenase E1 subunit alpha 2' SubClassOf 'gene with protein product' + 'pyruvate dehydrogenase E1 subunit alpha 2' SubClassOf 'has_chromosomal location' value "4q22.3" Class: http://www.orpha.net/ORDO/Orphanet_637064 Label(s): Isolated optic nerve aplasia + 'Isolated optic nerve aplasia' SubClassOf 'part_of' some 'Rare genetic optic nerve disorder' + 'Isolated optic nerve aplasia' SubClassOf 'disorder' + 'Isolated optic nerve aplasia' SubClassOf 'Morphological anomaly' + 'Isolated optic nerve aplasia' SubClassOf 'part_of' some 'Rare optic nerve disorder' + 'Isolated optic nerve aplasia' SubClassOf 'part_of' some 'Genetic developmental defect of the eye' + 'Isolated optic nerve aplasia' SubClassOf 'part_of' some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_637061 Label(s): Isolated optic nerve hypoplasia + 'Isolated optic nerve hypoplasia' SubClassOf 'Morphological anomaly' + 'Isolated optic nerve hypoplasia' SubClassOf 'part_of' some 'Rare optic nerve disorder' + 'Isolated optic nerve hypoplasia' SubClassOf 'part_of' some 'Rare genetic optic nerve disorder' + 'Isolated optic nerve hypoplasia' SubClassOf 'part_of' some 'Genetic developmental defect of the eye' + 'Isolated optic nerve hypoplasia' SubClassOf 'disorder' + 'Isolated optic nerve hypoplasia' SubClassOf 'part_of' some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_637051 Label(s): Borna virus encephalitis + 'Borna virus encephalitis' SubClassOf 'disorder' + 'Borna virus encephalitis' SubClassOf 'disease' + 'Borna virus encephalitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' + 'Borna virus encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_637013 Label(s): SMARCA2-related blepharophimosis-intellectual disability syndrome + 'SMARCA2-related blepharophimosis-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'SMARCA2-related blepharophimosis-intellectual disability syndrome' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome' + 'SMARCA2-related blepharophimosis-intellectual disability syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_647667 Label(s): Mandibuloacral dysplasia associated to MTX2 + 'Mandibuloacral dysplasia associated to MTX2' SubClassOf 'part_of' some 'Genetic progeroid syndrome' + 'Mandibuloacral dysplasia associated to MTX2' SubClassOf 'part_of' some 'Primary osteolysis' + 'Mandibuloacral dysplasia associated to MTX2' SubClassOf 'part_of' some 'Progeroid syndrome' + 'Mandibuloacral dysplasia associated to MTX2' SubClassOf 'malformation syndrome' + 'Mandibuloacral dysplasia associated to MTX2' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_470322 Label(s): F-box protein 28 + 'F-box protein 28' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' + 'F-box protein 28' SubClassOf 'gene with protein product' + 'F-box protein 28' SubClassOf 'has_chromosomal location' value "1q42.11" Class: http://www.orpha.net/ORDO/Orphanet_509142 Label(s): mutS homolog 4 + 'mutS homolog 4' SubClassOf 'gene with protein product' + 'mutS homolog 4' SubClassOf 'has_chromosomal location' value "1p31.1" + 'mutS homolog 4' SubClassOf 'disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_647772 Label(s): Isolated primary pigmented nodular adrenocortical disease + 'Isolated primary pigmented nodular adrenocortical disease' SubClassOf 'disorder' + 'Isolated primary pigmented nodular adrenocortical disease' SubClassOf 'part_of' some 'Rare adrenocortical nodular disease' + 'Isolated primary pigmented nodular adrenocortical disease' SubClassOf 'part_of' some 'Rare adrenocortical nodular disease with Cushing syndrome as a major feature' + 'Isolated primary pigmented nodular adrenocortical disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_647794 Label(s): Isolated persistent urogenital sinus + 'Isolated persistent urogenital sinus' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of female' + 'Isolated persistent urogenital sinus' SubClassOf 'disorder' + 'Isolated persistent urogenital sinus' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_643584 Label(s): ribosomal protein L8 + 'ribosomal protein L8' SubClassOf 'gene with protein product' + 'ribosomal protein L8' SubClassOf 'has_chromosomal location' value "8q24.3" + 'ribosomal protein L8' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Diamond-Blackfan anemia' Class: http://www.orpha.net/ORDO/Orphanet_643538 Label(s): Hao-Fountain syndrome due to USP7 mutation + 'Hao-Fountain syndrome due to USP7 mutation' SubClassOf 'part_of' some 'Hao-Fountain syndrome' + 'Hao-Fountain syndrome due to USP7 mutation' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_510824 Label(s): ALF transcription elongation factor 3 + 'ALF transcription elongation factor 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Mesomelic dysplasia-digital anomalies-intellectual disability syndrome' + 'ALF transcription elongation factor 3' SubClassOf 'gene with protein product' + 'ALF transcription elongation factor 3' SubClassOf 'has_chromosomal location' value "2q11.2" Class: http://www.orpha.net/ORDO/Orphanet_647809 Label(s): potassium inwardly rectifying channel subfamily J member 3 + 'potassium inwardly rectifying channel subfamily J member 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'potassium inwardly rectifying channel subfamily J member 3' SubClassOf 'gene with protein product' + 'potassium inwardly rectifying channel subfamily J member 3' SubClassOf 'has_chromosomal location' value "2q24.1" Class: http://www.orpha.net/ORDO/Orphanet_470140 Label(s): casein kinase 2 alpha 1 + 'casein kinase 2 alpha 1' SubClassOf 'gene with protein product' + 'casein kinase 2 alpha 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'casein kinase 2 alpha 1' SubClassOf 'has_chromosomal location' value "20p13" Class: http://www.orpha.net/ORDO/Orphanet_648919 Label(s): Idiopathic catatonia + 'Idiopathic catatonia' SubClassOf 'disorder' + 'Idiopathic catatonia' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' + 'Idiopathic catatonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_470718 Label(s): myelin regulatory factor + 'myelin regulatory factor' SubClassOf 'has_chromosomal location' value "11q12.2" + 'myelin regulatory factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Cardiac-urogenital syndrome' + 'myelin regulatory factor' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_470128 Label(s): coenzyme Q7, hydroxylase + 'coenzyme Q7, hydroxylase' SubClassOf 'has_chromosomal location' value "16p12.3" + 'coenzyme Q7, hydroxylase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome' + 'coenzyme Q7, hydroxylase' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_470810 Label(s): obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF + 'obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF' SubClassOf 'has_chromosomal location' value "1q42.13" + 'obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF' SubClassOf 'gene with protein product' + 'obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF' SubClassOf 'disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' Class: http://www.orpha.net/ORDO/Orphanet_645279 Label(s): Fibrolipomatous filum anomaly + 'Fibrolipomatous filum anomaly' SubClassOf 'Anomaly of the filum' + 'Fibrolipomatous filum anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_645288 Label(s): Terminal extramedullary conus spinal cord lipoma + 'Terminal extramedullary conus spinal cord lipoma' SubClassOf 'subtype of a disorder' + 'Terminal extramedullary conus spinal cord lipoma' SubClassOf 'part_of' some 'Extramedullary conus spinal cord lipoma' Class: http://www.orpha.net/ORDO/Orphanet_645294 Label(s): Posterior extramedullary conus spinal cord lipoma + 'Posterior extramedullary conus spinal cord lipoma' SubClassOf 'subtype of a disorder' + 'Posterior extramedullary conus spinal cord lipoma' SubClassOf 'part_of' some 'Extramedullary conus spinal cord lipoma' Class: http://www.orpha.net/ORDO/Orphanet_646278 Label(s): CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome + 'CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome' SubClassOf 'disease' + 'CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome' SubClassOf 'disorder' + 'CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_566968 Label(s): GON7 subunit of KEOPS complex + 'GON7 subunit of KEOPS complex' SubClassOf 'gene with protein product' + 'GON7 subunit of KEOPS complex' SubClassOf 'has_chromosomal location' value "14q32.12" + 'GON7 subunit of KEOPS complex' SubClassOf 'disease-causing germline mutation(s) in' some 'Galloway-Mowat syndrome' Class: http://www.orpha.net/ORDO/Orphanet_647916 Label(s): Conjoined twins + 'Conjoined twins' SubClassOf 'malformation syndrome' + 'Conjoined twins' SubClassOf 'part_of' some 'Rare developmental defect during embryogenesis' + 'Conjoined twins' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_649029 Label(s): Isolated left bronchial isomerism + 'Isolated left bronchial isomerism' SubClassOf 'part_of' some 'Bronchial malformation' + 'Isolated left bronchial isomerism' SubClassOf 'Morphological anomaly' + 'Isolated left bronchial isomerism' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_649017 Label(s): Rare adrenocortical nodular disease + 'Rare adrenocortical nodular disease' SubClassOf 'Adrenal/paraganglial tumor' + 'Rare adrenocortical nodular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_649014 Label(s): Bronchial malformation + 'Bronchial malformation' SubClassOf 'Respiratory malformation' + 'Bronchial malformation' SubClassOf 'group of disorders' + 'Bronchial malformation' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_648152 Label(s): cancer/testis antigen 55 + 'cancer/testis antigen 55' SubClassOf 'has_chromosomal location' value "Xq26.3" + 'cancer/testis antigen 55' SubClassOf 'gene with protein product' + 'cancer/testis antigen 55' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_645310 Label(s): Fibroneural non-saccular limited dorsal myeloschisis + 'Fibroneural non-saccular limited dorsal myeloschisis' SubClassOf 'part_of' some 'Non-saccular limited dorsal myeloschisis' + 'Fibroneural non-saccular limited dorsal myeloschisis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_648174 Label(s): TATA-box binding protein associated factor 4 + 'TATA-box binding protein associated factor 4' SubClassOf 'has_chromosomal location' value "20q13.33" + 'TATA-box binding protein associated factor 4' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'TATA-box binding protein associated factor 4' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_648179 Label(s): eukaryotic translation initiation factor 4A2 + 'eukaryotic translation initiation factor 4A2' SubClassOf 'gene with protein product' + 'eukaryotic translation initiation factor 4A2' SubClassOf 'has_chromosomal location' value "3q27.3" + 'eukaryotic translation initiation factor 4A2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_645322 Label(s): Isolated transitional filum lipoma + 'Isolated transitional filum lipoma' SubClassOf 'disorder' + 'Isolated transitional filum lipoma' SubClassOf 'Morphological anomaly' + 'Isolated transitional filum lipoma' SubClassOf 'part_of' some 'Fibrolipomatous filum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_639340 Label(s): ZFP36 ring finger protein like 2 + 'ZFP36 ring finger protein like 2' SubClassOf 'has_chromosomal location' value "2p21" + 'ZFP36 ring finger protein like 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to an implantation defect of genetic origin' + 'ZFP36 ring finger protein like 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_645340 Label(s): Non-terminal myelocystocele + 'Non-terminal myelocystocele' SubClassOf 'part_of' some 'Myelocystocele' + 'Non-terminal myelocystocele' SubClassOf 'disorder' + 'Non-terminal myelocystocele' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_645378 Label(s): Myelic limited dorsal malformation + 'Myelic limited dorsal malformation' SubClassOf 'part_of' some 'Open spinal dysraphism with a posterior meningocele' + 'Myelic limited dorsal malformation' SubClassOf 'Morphological anomaly' + 'Myelic limited dorsal malformation' SubClassOf 'part_of' some 'Saccular spinal dysraphism with a stalk to the dome' + 'Myelic limited dorsal malformation' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_566786 Label(s): toll like receptor 7 + 'toll like receptor 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Systemic lupus erythematosus' + 'toll like receptor 7' SubClassOf 'gene with protein product' + 'toll like receptor 7' SubClassOf 'has_chromosomal location' value "Xp22.2" Class: http://www.orpha.net/ORDO/Orphanet_645388 Label(s): Hemi-myelomeningocele + 'Hemi-myelomeningocele' SubClassOf 'part_of' some 'Open spinal dysraphism with a myelomeningocele' + 'Hemi-myelomeningocele' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_646139 Label(s): Dysplastic cortical hyperostosis + 'Dysplastic cortical hyperostosis' SubClassOf 'disorder' + 'Dysplastic cortical hyperostosis' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Dysplastic cortical hyperostosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_646136 Label(s): Dysplastic cortical hyperostosis, Al-Gazali type + 'Dysplastic cortical hyperostosis, Al-Gazali type' SubClassOf 'subtype of a disorder' + 'Dysplastic cortical hyperostosis, Al-Gazali type' SubClassOf 'part_of' some 'Dysplastic cortical hyperostosis' Class: http://www.orpha.net/ORDO/Orphanet_264428 Label(s): junctophilin 2 + 'junctophilin 2' SubClassOf 'has_chromosomal location' value "20q13.12" + 'junctophilin 2' SubClassOf 'gene with protein product' + 'junctophilin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_650187 Label(s): Rare peripheral precocious puberty in female + 'Rare peripheral precocious puberty in female' SubClassOf 'Rare precocious puberty in female' + 'Rare peripheral precocious puberty in female' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_650182 Label(s): Genetic central precocious puberty + 'Genetic central precocious puberty' SubClassOf 'group of disorders' + 'Genetic central precocious puberty' SubClassOf 'Genetic precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_646113 Label(s): Intermediate collagen VI-related muscular dystrophy + 'Intermediate collagen VI-related muscular dystrophy' SubClassOf 'disease' + 'Intermediate collagen VI-related muscular dystrophy' SubClassOf 'disorder' + 'Intermediate collagen VI-related muscular dystrophy' SubClassOf 'part_of' some 'Collagen VI-related congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_650102 Label(s): Non-genetic central precocious puberty in male + 'Non-genetic central precocious puberty in male' SubClassOf 'part_of' some 'Primary central precocious puberty in male' + 'Non-genetic central precocious puberty in male' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_648279 Label(s): Wnt family member 7B + 'Wnt family member 7B' SubClassOf 'disease-causing germline mutation(s) in' some 'Matthew-Wood syndrome' + 'Wnt family member 7B' SubClassOf 'gene with protein product' + 'Wnt family member 7B' SubClassOf 'has_chromosomal location' value "22q13.31" Class: http://www.orpha.net/ORDO/Orphanet_646098 Label(s): Collagen VI-related congenital muscular dystrophy + 'Collagen VI-related congenital muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of collagen 6' + 'Collagen VI-related congenital muscular dystrophy' SubClassOf 'group of disorders' + 'Collagen VI-related congenital muscular dystrophy' SubClassOf 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_642671 Label(s): Familial hyperaldosteronism type IV + 'Familial hyperaldosteronism type IV' SubClassOf 'disorder' + 'Familial hyperaldosteronism type IV' SubClassOf 'part_of' some 'Familial hyperaldosteronism' + 'Familial hyperaldosteronism type IV' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_642691 Label(s): Fragile X-associated primary ovarian insufficiency + 'Fragile X-associated primary ovarian insufficiency' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' + 'Fragile X-associated primary ovarian insufficiency' SubClassOf 'disease' + 'Fragile X-associated primary ovarian insufficiency' SubClassOf 'part_of' some 'Genetic premature ovarian failure' + 'Fragile X-associated primary ovarian insufficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_650087 Label(s): Primary central precocious puberty in male + 'Primary central precocious puberty in male' SubClassOf 'part_of' some 'Central precocious puberty in male' + 'Primary central precocious puberty in male' SubClassOf 'disorder' + 'Primary central precocious puberty in male' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_650061 Label(s): AFG2 AAA ATPase homolog B + 'AFG2 AAA ATPase homolog B' SubClassOf 'has_chromosomal location' value "15q21.1" + 'AFG2 AAA ATPase homolog B' SubClassOf 'disease-causing germline mutation(s) in' some 'Rare autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'AFG2 AAA ATPase homolog B' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_645859 Label(s): Primary tuberculosis of the digestive system + 'Primary tuberculosis of the digestive system' SubClassOf 'part_of' some 'Rare gastroenterologic disease' + 'Primary tuberculosis of the digestive system' SubClassOf 'disease' + 'Primary tuberculosis of the digestive system' SubClassOf 'part_of' some 'Tuberculosis' + 'Primary tuberculosis of the digestive system' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_647676 Label(s): Multiple epiphyseal dysplasia type 7 + 'Multiple epiphyseal dysplasia type 7' SubClassOf 'disorder' + 'Multiple epiphyseal dysplasia type 7' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia type 7' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_645854 Label(s): Multifocal tuberculosis + 'Multifocal tuberculosis' SubClassOf 'disorder' + 'Multifocal tuberculosis' SubClassOf 'part_of' some 'Pituitary hormone deficiency secondary to a granulomatous disease' + 'Multifocal tuberculosis' SubClassOf 'disease' + 'Multifocal tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' Class: http://www.orpha.net/ORDO/Orphanet_650057 Label(s): gametogenetin + 'gametogenetin' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' + 'gametogenetin' SubClassOf 'gene with protein product' + 'gametogenetin' SubClassOf 'has_chromosomal location' value "19q13.2" Class: http://www.orpha.net/ORDO/Orphanet_650055 Label(s): C2 calcium dependent domain containing 6 + 'C2 calcium dependent domain containing 6' SubClassOf 'has_chromosomal location' value "2q33.1" + 'C2 calcium dependent domain containing 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' + 'C2 calcium dependent domain containing 6' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_650053 Label(s): zona pellucida binding protein + 'zona pellucida binding protein' SubClassOf 'has_chromosomal location' value "7p12.2" + 'zona pellucida binding protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' + 'zona pellucida binding protein' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_650051 Label(s): F-box protein 43 + 'F-box protein 43' SubClassOf 'has_chromosomal location' value "8q22.2" + 'F-box protein 43' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'F-box protein 43' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_645849 Label(s): Primary cutaneous tuberculosis + 'Primary cutaneous tuberculosis' SubClassOf 'disorder' + 'Primary cutaneous tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' + 'Primary cutaneous tuberculosis' SubClassOf 'disease' + 'Primary cutaneous tuberculosis' SubClassOf 'part_of' some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_650049 Label(s): Mov10 like RISC complex RNA helicase 1 + 'Mov10 like RISC complex RNA helicase 1' SubClassOf 'gene with protein product' + 'Mov10 like RISC complex RNA helicase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'Mov10 like RISC complex RNA helicase 1' SubClassOf 'has_chromosomal location' value "22q13.33" Class: http://www.orpha.net/ORDO/Orphanet_650047 Label(s): telomere repeat binding bouquet formation protein 2 + 'telomere repeat binding bouquet formation protein 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'telomere repeat binding bouquet formation protein 2' SubClassOf 'gene with protein product' + 'telomere repeat binding bouquet formation protein 2' SubClassOf 'has_chromosomal location' value "15q21.1" Class: http://www.orpha.net/ORDO/Orphanet_650045 Label(s): telomere repeat binding bouquet formation protein 1 + 'telomere repeat binding bouquet formation protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'telomere repeat binding bouquet formation protein 1' SubClassOf 'gene with protein product' + 'telomere repeat binding bouquet formation protein 1' SubClassOf 'has_chromosomal location' value "16q22.1" Class: http://www.orpha.net/ORDO/Orphanet_647681 Label(s): Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome + 'Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome' SubClassOf 'malformation syndrome' + 'Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome' SubClassOf 'disorder' + 'Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_645822 Label(s): Primary bone and joint tuberculosis + 'Primary bone and joint tuberculosis' SubClassOf 'part_of' some 'Rare bone disease' + 'Primary bone and joint tuberculosis' SubClassOf 'disease' + 'Primary bone and joint tuberculosis' SubClassOf 'disorder' + 'Primary bone and joint tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' Class: http://www.orpha.net/ORDO/Orphanet_648684 Label(s): Central retinal artery occlusion + 'Central retinal artery occlusion' SubClassOf 'disorder' + 'Central retinal artery occlusion' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Central retinal artery occlusion' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_648681 Label(s): Immune-mediated scleritis + 'Immune-mediated scleritis' SubClassOf 'part_of' some 'Rare scleritis' + 'Immune-mediated scleritis' SubClassOf 'disease' + 'Immune-mediated scleritis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_648675 Label(s): Idiopathic scleritis + 'Idiopathic scleritis' SubClassOf 'disease' + 'Idiopathic scleritis' SubClassOf 'part_of' some 'Rare scleritis' + 'Idiopathic scleritis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_648665 Label(s): Infectious scleritis + 'Infectious scleritis' SubClassOf 'disease' + 'Infectious scleritis' SubClassOf 'part_of' some 'Rare scleritis' + 'Infectious scleritis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_642976 Label(s): Perrault syndrome type 2 + 'Perrault syndrome type 2' SubClassOf 'part_of' some 'Perrault syndrome' + 'Perrault syndrome type 2' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_642965 Label(s): Autosomal recessive ataxia due to PEX2 deficiency + 'Autosomal recessive ataxia due to PEX2 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Autosomal recessive ataxia due to PEX2 deficiency' SubClassOf 'disorder' + 'Autosomal recessive ataxia due to PEX2 deficiency' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' + 'Autosomal recessive ataxia due to PEX2 deficiency' SubClassOf 'disease' + 'Autosomal recessive ataxia due to PEX2 deficiency' SubClassOf 'part_of' some 'Peroxisomal disease' Class: http://www.orpha.net/ORDO/Orphanet_642788 Label(s): Cushing syndrome due to cortisol-producing adrenocortical adenoma + 'Cushing syndrome due to cortisol-producing adrenocortical adenoma' SubClassOf 'disorder' + 'Cushing syndrome due to cortisol-producing adrenocortical adenoma' SubClassOf 'part_of' some 'Adrenal Cushing syndrome' + 'Cushing syndrome due to cortisol-producing adrenocortical adenoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_642954 Label(s): Autosomal recessive ataxia due to PEX16 deficiency + 'Autosomal recessive ataxia due to PEX16 deficiency' SubClassOf 'disease' + 'Autosomal recessive ataxia due to PEX16 deficiency' SubClassOf 'disorder' + 'Autosomal recessive ataxia due to PEX16 deficiency' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' + 'Autosomal recessive ataxia due to PEX16 deficiency' SubClassOf 'part_of' some 'Peroxisomal disease' + 'Autosomal recessive ataxia due to PEX16 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_642945 Label(s): Perrault syndrome type 1 + 'Perrault syndrome type 1' SubClassOf 'part_of' some 'Perrault syndrome' + 'Perrault syndrome type 1' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_645749 Label(s): Congenital esophageal stenosis + 'Congenital esophageal stenosis' SubClassOf 'Morphological anomaly' + 'Congenital esophageal stenosis' SubClassOf 'part_of' some 'Non-syndromic esophageal malformation' + 'Congenital esophageal stenosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_618944 Label(s): ATPase 13A3 + 'ATPase 13A3' SubClassOf 'gene with protein product' + 'ATPase 13A3' SubClassOf 'disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' + 'ATPase 13A3' SubClassOf 'has_chromosomal location' value "3q29" Class: http://www.orpha.net/ORDO/Orphanet_648581 Label(s): Digenic hemochromatosis + 'Digenic hemochromatosis' SubClassOf 'disorder' + 'Digenic hemochromatosis' SubClassOf 'disease' + 'Digenic hemochromatosis' SubClassOf 'part_of' some 'Rare hereditary hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_648562 Label(s): Ferroportin Disease + 'Ferroportin Disease' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' + 'Ferroportin Disease' SubClassOf 'disorder' + 'Ferroportin Disease' SubClassOf 'part_of' some 'Rare metabolic liver disease' + 'Ferroportin Disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_648559 Label(s): Rare scleritis + 'Rare scleritis' SubClassOf 'group of disorders' + 'Rare scleritis' SubClassOf 'Rare scleral disorder' Class: http://www.orpha.net/ORDO/Orphanet_643093 Label(s): membrane integral NOTCH2 associated receptor 2 + 'membrane integral NOTCH2 associated receptor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Rare autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'membrane integral NOTCH2 associated receptor 2' SubClassOf 'gene with protein product' + 'membrane integral NOTCH2 associated receptor 2' SubClassOf 'has_chromosomal location' value "5q23.3" Class: http://www.orpha.net/ORDO/Orphanet_645626 Label(s): Adermatopathic dermatomyositis + 'Adermatopathic dermatomyositis' SubClassOf 'subtype of a disorder' + 'Adermatopathic dermatomyositis' SubClassOf 'part_of' some 'Dermatomyositis' Class: http://www.orpha.net/ORDO/Orphanet_645617 Label(s): Amyopathic dermatomyositis + 'Amyopathic dermatomyositis' SubClassOf 'subtype of a disorder' + 'Amyopathic dermatomyositis' SubClassOf 'part_of' some 'Dermatomyositis' Class: http://www.orpha.net/ORDO/Orphanet_645613 Label(s): Classical dermatomyositis + 'Classical dermatomyositis' SubClassOf 'subtype of a disorder' + 'Classical dermatomyositis' SubClassOf 'part_of' some 'Dermatomyositis' Class: http://www.orpha.net/ORDO/Orphanet_585628 Label(s): H1.4 linker histone, cluster member + 'H1.4 linker histone, cluster member' SubClassOf 'gene with protein product' + 'H1.4 linker histone, cluster member' SubClassOf 'has_chromosomal location' value "6p22.2" + 'H1.4 linker histone, cluster member' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation' Class: http://www.orpha.net/ORDO/Orphanet_509080 Label(s): interleukin 6 cytokine family signal transducer + 'interleukin 6 cytokine family signal transducer' SubClassOf 'has_chromosomal location' value "5q11.2" + 'interleukin 6 cytokine family signal transducer' SubClassOf 'gene with protein product' + 'interleukin 6 cytokine family signal transducer' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Stüve-Wiedemann syndrome' + 'interleukin 6 cytokine family signal transducer' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome' + 'interleukin 6 cytokine family signal transducer' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_645793 Label(s): Spontaneous intestinal perforation + 'Spontaneous intestinal perforation' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Spontaneous intestinal perforation' SubClassOf 'disease' + 'Spontaneous intestinal perforation' SubClassOf 'disorder' + 'Spontaneous intestinal perforation' SubClassOf 'part_of' some 'Rare abdominal surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_470828 Label(s): phosphofurin acidic cluster sorting protein 2 + 'phosphofurin acidic cluster sorting protein 2' SubClassOf 'gene with protein product' + 'phosphofurin acidic cluster sorting protein 2' SubClassOf 'has_chromosomal location' value "14q32.33" + 'phosphofurin acidic cluster sorting protein 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_642763 Label(s): Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation + 'Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation' SubClassOf 'malformation syndrome' + 'Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_642747 Label(s): PUM1-related cerebellar ataxia + 'PUM1-related cerebellar ataxia' SubClassOf 'disease' + 'PUM1-related cerebellar ataxia' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia' + 'PUM1-related cerebellar ataxia' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_642737 Label(s): OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature + 'OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature' SubClassOf 'Referred to' some 'Spondyloepimetaphyseal dysplasia, Isidor-Toutain type' + 'OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_645807 Label(s): Primary tuberculous lymphadenitis + 'Primary tuberculous lymphadenitis' SubClassOf 'part_of' some 'Tuberculosis' + 'Primary tuberculous lymphadenitis' SubClassOf 'disorder' + 'Primary tuberculous lymphadenitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_645814 Label(s): Primary pulmonary tuberculosis + 'Primary pulmonary tuberculosis' SubClassOf 'disorder' + 'Primary pulmonary tuberculosis' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Primary pulmonary tuberculosis' SubClassOf 'disease' + 'Primary pulmonary tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' Class: http://www.orpha.net/ORDO/Orphanet_645874 Label(s): Primary genito-urinary tuberculosis + 'Primary genito-urinary tuberculosis' SubClassOf 'disease' + 'Primary genito-urinary tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' + 'Primary genito-urinary tuberculosis' SubClassOf 'disorder' + 'Primary genito-urinary tuberculosis' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' Class: http://www.orpha.net/ORDO/Orphanet_650040 Label(s): ciliogenesis associated TTC17 interacting protein + 'ciliogenesis associated TTC17 interacting protein' SubClassOf 'gene with protein product' + 'ciliogenesis associated TTC17 interacting protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'ciliogenesis associated TTC17 interacting protein' SubClassOf 'has_chromosomal location' value "2q35" Class: http://www.orpha.net/ORDO/Orphanet_650043 Label(s): ring finger protein 212 + 'ring finger protein 212' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'ring finger protein 212' SubClassOf 'has_chromosomal location' value "4p16.3" + 'ring finger protein 212' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_650059 Label(s): shortage in chiasmata 1 + 'shortage in chiasmata 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'shortage in chiasmata 1' SubClassOf 'has_chromosomal location' value "9q31.3" + 'shortage in chiasmata 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_650063 Label(s): Rare central precocious puberty + 'Rare central precocious puberty' SubClassOf 'group of disorders' + 'Rare central precocious puberty' SubClassOf 'Rare precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_650070 Label(s): Rare central precocious puberty in female + 'Rare central precocious puberty in female' SubClassOf 'Rare precocious puberty in female' + 'Rare central precocious puberty in female' SubClassOf 'group of disorders' + 'Rare central precocious puberty in female' SubClassOf 'Rare central precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_642675 Label(s): CHD8 overgrowth syndrome + 'CHD8 overgrowth syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CHD8 overgrowth syndrome' SubClassOf 'disorder' + 'CHD8 overgrowth syndrome' SubClassOf 'disease' + 'CHD8 overgrowth syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' + 'CHD8 overgrowth syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_647834 Label(s): SLC40A1-related hemochromatosis + 'SLC40A1-related hemochromatosis' SubClassOf 'disorder' + 'SLC40A1-related hemochromatosis' SubClassOf 'part_of' some 'Non-HFE-related hemochromatosis' + 'SLC40A1-related hemochromatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_650097 Label(s): Genetic central precocious puberty in male + 'Genetic central precocious puberty in male' SubClassOf 'part_of' some 'Genetic central precocious puberty' + 'Genetic central precocious puberty in male' SubClassOf 'subtype of a disorder' + 'Genetic central precocious puberty in male' SubClassOf 'part_of' some 'Primary central precocious puberty in male' Class: http://www.orpha.net/ORDO/Orphanet_648290 Label(s): vascular endothelial zinc finger 1 + 'vascular endothelial zinc finger 1' SubClassOf 'has_chromosomal location' value "17q22" + 'vascular endothelial zinc finger 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'vascular endothelial zinc finger 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_648287 Label(s): Rho guanine nucleotide exchange factor 38 + 'Rho guanine nucleotide exchange factor 38' SubClassOf 'gene with protein product' + 'Rho guanine nucleotide exchange factor 38' SubClassOf 'major susceptibility factor in' some 'Cleft lip/palate' + 'Rho guanine nucleotide exchange factor 38' SubClassOf 'has_chromosomal location' value "4q24" Class: http://www.orpha.net/ORDO/Orphanet_648282 Label(s): cordon-bleu WH2 repeat protein like 1 + 'cordon-bleu WH2 repeat protein like 1' SubClassOf 'has_chromosomal location' value "2q24.3" + 'cordon-bleu WH2 repeat protein like 1' SubClassOf 'major susceptibility factor in' some 'Cleft lip/palate' + 'cordon-bleu WH2 repeat protein like 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_645401 Label(s): True myeloschisis + 'True myeloschisis' SubClassOf 'part_of' some 'Myeloschisis' + 'True myeloschisis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_648250 Label(s): solute carrier family 32 member 1 + 'solute carrier family 32 member 1' SubClassOf 'has_chromosomal location' value "20q11.23" + 'solute carrier family 32 member 1' SubClassOf 'gene with protein product' + 'solute carrier family 32 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_648245 Label(s): centromere protein P + 'centromere protein P' SubClassOf 'has_chromosomal location' value "9q22.31" + 'centromere protein P' SubClassOf 'gene with protein product' + 'centromere protein P' SubClassOf 'disease-causing germline mutation(s) in' some 'Rare autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_648220 Label(s): nucleoporin 54 + 'nucleoporin 54' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial infantile bilateral striatal necrosis' + 'nucleoporin 54' SubClassOf 'gene with protein product' + 'nucleoporin 54' SubClassOf 'has_chromosomal location' value "4q21.1" Class: http://www.orpha.net/ORDO/Orphanet_648207 Label(s): armadillo repeat containing 12 + 'armadillo repeat containing 12' SubClassOf 'gene with protein product' + 'armadillo repeat containing 12' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' + 'armadillo repeat containing 12' SubClassOf 'has_chromosomal location' value "6p21.31" Class: http://www.orpha.net/ORDO/Orphanet_648204 Label(s): cilia and flagella associated protein 61 + 'cilia and flagella associated protein 61' SubClassOf 'has_chromosomal location' value "20p11.23" + 'cilia and flagella associated protein 61' SubClassOf 'gene with protein product' + 'cilia and flagella associated protein 61' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' Class: http://www.orpha.net/ORDO/Orphanet_648202 Label(s): A-kinase anchoring protein 3 + 'A-kinase anchoring protein 3' SubClassOf 'gene with protein product' + 'A-kinase anchoring protein 3' SubClassOf 'has_chromosomal location' value "12p13.32" + 'A-kinase anchoring protein 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' Class: http://www.orpha.net/ORDO/Orphanet_585405 Label(s): leiomodin 2 + 'leiomodin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'leiomodin 2' SubClassOf 'has_chromosomal location' value "7q31.32" + 'leiomodin 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_645398 Label(s): Myeloschisis + 'Myeloschisis' SubClassOf 'Morphological anomaly' + 'Myeloschisis' SubClassOf 'part_of' some 'Open spinal dysraphism' + 'Myeloschisis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_645393 Label(s): Hemi-myeloschisis + 'Hemi-myeloschisis' SubClassOf 'subtype of a disorder' + 'Hemi-myeloschisis' SubClassOf 'part_of' some 'Myeloschisis' Class: http://www.orpha.net/ORDO/Orphanet_645383 Label(s): True myelomeningocele + 'True myelomeningocele' SubClassOf 'part_of' some 'Open spinal dysraphism with a myelomeningocele' + 'True myelomeningocele' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_645367 Label(s): Conus spinal cord lipoma + 'Conus spinal cord lipoma' SubClassOf 'group of disorders' + 'Conus spinal cord lipoma' SubClassOf 'Dysraphic spinal cord lipoma' Class: http://www.orpha.net/ORDO/Orphanet_645362 Label(s): Dorsal spinal cord lipoma + 'Dorsal spinal cord lipoma' SubClassOf 'disorder' + 'Dorsal spinal cord lipoma' SubClassOf 'part_of' some 'Dysraphic spinal cord lipoma' + 'Dorsal spinal cord lipoma' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_645359 Label(s): Intramedullary non-dysraphic spinal cord lipoma + 'Intramedullary non-dysraphic spinal cord lipoma' SubClassOf 'Morphological anomaly' + 'Intramedullary non-dysraphic spinal cord lipoma' SubClassOf 'disorder' + 'Intramedullary non-dysraphic spinal cord lipoma' SubClassOf 'part_of' some 'Spinal cord lipoma' Class: http://www.orpha.net/ORDO/Orphanet_645354 Label(s): Saccular limited dorsal myeloschisis + 'Saccular limited dorsal myeloschisis' SubClassOf 'part_of' some 'Saccular spinal dysraphism with a stalk to the dome' + 'Saccular limited dorsal myeloschisis' SubClassOf 'disorder' + 'Saccular limited dorsal myeloschisis' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_645350 Label(s): Segmental arterial mediolysis + 'Segmental arterial mediolysis' SubClassOf 'disease' + 'Segmental arterial mediolysis' SubClassOf 'part_of' some 'Non-inflammatory vasculopathy' + 'Segmental arterial mediolysis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_645343 Label(s): Non-saccular limited dorsal myeloschisis + 'Non-saccular limited dorsal myeloschisis' SubClassOf 'Morphological anomaly' + 'Non-saccular limited dorsal myeloschisis' SubClassOf 'disorder' + 'Non-saccular limited dorsal myeloschisis' SubClassOf 'part_of' some 'Limited dorsal myeloschisis' Class: http://www.orpha.net/ORDO/Orphanet_645337 Label(s): Terminal myelocystocele + 'Terminal myelocystocele' SubClassOf 'part_of' some 'Myelocystocele' + 'Terminal myelocystocele' SubClassOf 'part_of' some 'Saccular spinal dysraphism with a stalk to the dome' + 'Terminal myelocystocele' SubClassOf 'disorder' + 'Terminal myelocystocele' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_645334 Label(s): Retained medullary cord + 'Retained medullary cord' SubClassOf 'Morphological anomaly' + 'Retained medullary cord' SubClassOf 'part_of' some 'Anomaly of the filum' + 'Retained medullary cord' SubClassOf 'part_of' some 'Dysraphism with stalk' + 'Retained medullary cord' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_645319 Label(s): Saccular spinal dysraphism with a stalk to the dome + 'Saccular spinal dysraphism with a stalk to the dome' SubClassOf 'Spinal dysraphism with a posterior meningocele' + 'Saccular spinal dysraphism with a stalk to the dome' SubClassOf 'Limited dorsal myeloschisis' + 'Saccular spinal dysraphism with a stalk to the dome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_648169 Label(s): dihydropyrimidinase like 2 + 'dihydropyrimidinase like 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'dihydropyrimidinase like 2' SubClassOf 'gene with protein product' + 'dihydropyrimidinase like 2' SubClassOf 'has_chromosomal location' value "8p21.2" Class: http://www.orpha.net/ORDO/Orphanet_648159 Label(s): ribosomal protein L10 like + 'ribosomal protein L10 like' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'ribosomal protein L10 like' SubClassOf 'has_chromosomal location' value "14q21.2" + 'ribosomal protein L10 like' SubClassOf 'gene with protein product' + 'ribosomal protein L10 like' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_649010 Label(s): Non-syndromic congenital bronchial atresia + 'Non-syndromic congenital bronchial atresia' SubClassOf 'disorder' + 'Non-syndromic congenital bronchial atresia' SubClassOf 'part_of' some 'Bronchial malformation' + 'Non-syndromic congenital bronchial atresia' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_159239 Label(s): bromodomain and WD repeat domain containing 3 + 'bromodomain and WD repeat domain containing 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'bromodomain and WD repeat domain containing 3' SubClassOf 'has_chromosomal location' value "Xq21.1" + 'bromodomain and WD repeat domain containing 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_645297 Label(s): Extramedullary conus spinal cord lipoma + 'Extramedullary conus spinal cord lipoma' SubClassOf 'disorder' + 'Extramedullary conus spinal cord lipoma' SubClassOf 'Morphological anomaly' + 'Extramedullary conus spinal cord lipoma' SubClassOf 'part_of' some 'Conus spinal cord lipoma' Class: http://www.orpha.net/ORDO/Orphanet_645291 Label(s): Transitional extramedullary conus spinal cord lipoma + 'Transitional extramedullary conus spinal cord lipoma' SubClassOf 'subtype of a disorder' + 'Transitional extramedullary conus spinal cord lipoma' SubClassOf 'part_of' some 'Extramedullary conus spinal cord lipoma' Class: http://www.orpha.net/ORDO/Orphanet_645285 Label(s): Chaotic conus spinal cord lipoma + 'Chaotic conus spinal cord lipoma' SubClassOf 'part_of' some 'Conus spinal cord lipoma' + 'Chaotic conus spinal cord lipoma' SubClassOf 'Morphological anomaly' + 'Chaotic conus spinal cord lipoma' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_645282 Label(s): Anomaly of the filum + 'Anomaly of the filum' SubClassOf 'Neural tube closure defect' + 'Anomaly of the filum' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_645276 Label(s): Spinal cord lipoma + 'Spinal cord lipoma' SubClassOf 'group of disorders' + 'Spinal cord lipoma' SubClassOf 'Neural tube closure defect' Class: http://www.orpha.net/ORDO/Orphanet_645273 Label(s): Dysraphic spinal cord lipoma + 'Dysraphic spinal cord lipoma' SubClassOf 'group of disorders' + 'Dysraphic spinal cord lipoma' SubClassOf 'Closed spinal dysraphism' + 'Dysraphic spinal cord lipoma' SubClassOf 'Spinal cord lipoma' Class: http://www.orpha.net/ORDO/Orphanet_645270 Label(s): Open spinal dysraphism with a posterior meningocele + 'Open spinal dysraphism with a posterior meningocele' SubClassOf 'Open spinal dysraphism' + 'Open spinal dysraphism with a posterior meningocele' SubClassOf 'Spinal dysraphism with a posterior meningocele' + 'Open spinal dysraphism with a posterior meningocele' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_645202 Label(s): Closed spinal dysraphism + 'Closed spinal dysraphism' SubClassOf 'Spina bifida and other spinal dysraphisms' + 'Closed spinal dysraphism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_594756 Label(s): Spi-1 proto-oncogene + 'Spi-1 proto-oncogene' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'Spi-1 proto-oncogene' SubClassOf 'gene with protein product' + 'Spi-1 proto-oncogene' SubClassOf 'has_chromosomal location' value "11p11.2" Class: http://www.orpha.net/ORDO/Orphanet_594702 Label(s): solute carrier family 39 member 7 + 'solute carrier family 39 member 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'solute carrier family 39 member 7' SubClassOf 'gene with protein product' + 'solute carrier family 39 member 7' SubClassOf 'has_chromosomal location' value "6p21.32" Class: http://www.orpha.net/ORDO/Orphanet_647823 Label(s): Idiopathic pregnancy-associated osteoporosis + 'Idiopathic pregnancy-associated osteoporosis' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Idiopathic pregnancy-associated osteoporosis' SubClassOf 'disorder' + 'Idiopathic pregnancy-associated osteoporosis' SubClassOf 'disease' + 'Idiopathic pregnancy-associated osteoporosis' SubClassOf 'part_of' some 'Rare bone disease' Class: http://www.orpha.net/ORDO/Orphanet_647815 Label(s): Keratoendotheliitis fugax hereditaria + 'Keratoendotheliitis fugax hereditaria' SubClassOf 'disorder' + 'Keratoendotheliitis fugax hereditaria' SubClassOf 'part_of' some 'Cryopyrin-associated periodic syndrome' + 'Keratoendotheliitis fugax hereditaria' SubClassOf 'part_of' some 'Rare disorder involving multiple structures of the eye' + 'Keratoendotheliitis fugax hereditaria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_647811 Label(s): Cardiac-urogenital syndrome + 'Cardiac-urogenital syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cardiac-urogenital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cardiac-urogenital syndrome' SubClassOf 'disease' + 'Cardiac-urogenital syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_647804 Label(s): Combined immunodeficiency due to FCHO1 deficiency + 'Combined immunodeficiency due to FCHO1 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to FCHO1 deficiency' SubClassOf 'disease' + 'Combined immunodeficiency due to FCHO1 deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_645196 Label(s): Limited dorsal myeloschisis + 'Limited dorsal myeloschisis' SubClassOf 'Dysraphism with stalk' + 'Limited dorsal myeloschisis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_645193 Label(s): Dysraphism with stalk + 'Dysraphism with stalk' SubClassOf 'Closed spinal dysraphism' + 'Dysraphism with stalk' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_645188 Label(s): Spinal dermal sinus + 'Spinal dermal sinus' SubClassOf 'part_of' some 'Dysraphism with stalk' + 'Spinal dermal sinus' SubClassOf 'disorder' + 'Spinal dermal sinus' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_321632 Label(s): chromodomain helicase DNA binding protein 8 + 'chromodomain helicase DNA binding protein 8' SubClassOf 'has_chromosomal location' value "14q11.2" + 'chromodomain helicase DNA binding protein 8' SubClassOf 'role in the phenotype of' some '14q11.2 microduplication syndrome' + 'chromodomain helicase DNA binding protein 8' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'CHD8 overgrowth syndrome' + 'chromodomain helicase DNA binding protein 8' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_647799 Label(s): MYT1L-related developmental delay-intellectual disability-obesity syndrome + 'MYT1L-related developmental delay-intellectual disability-obesity syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'MYT1L-related developmental delay-intellectual disability-obesity syndrome' SubClassOf 'disorder' + 'MYT1L-related developmental delay-intellectual disability-obesity syndrome' SubClassOf 'disease' + 'MYT1L-related developmental delay-intellectual disability-obesity syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' + 'MYT1L-related developmental delay-intellectual disability-obesity syndrome' SubClassOf 'part_of' some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_647788 Label(s): Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome + 'Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome' SubClassOf 'disorder' + 'Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_647782 Label(s): Isolated micronodular adrenocortical disease + 'Isolated micronodular adrenocortical disease' SubClassOf 'part_of' some 'Rare adrenocortical nodular disease with Cushing syndrome as a major feature' + 'Isolated micronodular adrenocortical disease' SubClassOf 'disorder' + 'Isolated micronodular adrenocortical disease' SubClassOf 'part_of' some 'Rare adrenocortical nodular disease' + 'Isolated micronodular adrenocortical disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_647758 Label(s): Adrenal Cushing syndrome + 'Adrenal Cushing syndrome' SubClassOf 'group of disorders' + 'Adrenal Cushing syndrome' SubClassOf 'Endogenous Cushing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_645300 Label(s): Lipomatous non-saccular limited dorsal myeloschisis + 'Lipomatous non-saccular limited dorsal myeloschisis' SubClassOf 'subtype of a disorder' + 'Lipomatous non-saccular limited dorsal myeloschisis' SubClassOf 'part_of' some 'Non-saccular limited dorsal myeloschisis' Class: http://www.orpha.net/ORDO/Orphanet_650077 Label(s): Genetic central precocious puberty in female + 'Genetic central precocious puberty in female' SubClassOf 'disease' + 'Genetic central precocious puberty in female' SubClassOf 'part_of' some 'Genetic central precocious puberty' + 'Genetic central precocious puberty in female' SubClassOf 'disorder' + 'Genetic central precocious puberty in female' SubClassOf 'part_of' some 'Rare central precocious puberty in female' Class: http://www.orpha.net/ORDO/Orphanet_647768 Label(s): Rare adrenocortical nodular disease with Cushing syndrome as a major feature + 'Rare adrenocortical nodular disease with Cushing syndrome as a major feature' SubClassOf 'group of disorders' + 'Rare adrenocortical nodular disease with Cushing syndrome as a major feature' SubClassOf 'Rare disease with adrenal Cushing syndrome as a major feature' ################ @Classes deleted from this version Class: http://www.orpha.net/ORDO/Orphanet_470756 Label(s): NADH:ubiquinone oxidoreductase subunit B8 + 'NADH:ubiquinone oxidoreductase subunit B8' SubClassOf 'has_chromosomal location' value "10q24.31" + 'NADH:ubiquinone oxidoreductase subunit B8' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'NADH:ubiquinone oxidoreductase subunit B8' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_201567 Label(s): translational activator of cytochrome c oxidase I + 'translational activator of cytochrome c oxidase I' SubClassOf 'gene with protein product' + 'translational activator of cytochrome c oxidase I' SubClassOf 'has_chromosomal location' value "17q23.3" + 'translational activator of cytochrome c oxidase I' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_426564 Label(s): enoyl-CoA hydratase, short chain 1 + 'enoyl-CoA hydratase, short chain 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'enoyl-CoA hydratase, short chain 1' SubClassOf 'has_chromosomal location' value "10q26.3" + 'enoyl-CoA hydratase, short chain 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_291742 Label(s): NADH:ubiquinone oxidoreductase subunit A9 + 'NADH:ubiquinone oxidoreductase subunit A9' SubClassOf 'has_chromosomal location' value "12p13.3" + 'NADH:ubiquinone oxidoreductase subunit A9' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH:ubiquinone oxidoreductase subunit A9' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_286575 Label(s): cytochrome P450 family 4 subfamily F member 2 + 'cytochrome P450 family 4 subfamily F member 2' SubClassOf 'has_chromosomal location' value "19p13.12" + 'cytochrome P450 family 4 subfamily F member 2' SubClassOf 'gene with protein product' + 'cytochrome P450 family 4 subfamily F member 2' SubClassOf 'biomarker tested in' some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_470608 Label(s): LIM zinc finger domain containing 2 + 'LIM zinc finger domain containing 2' SubClassOf 'gene with protein product' + 'LIM zinc finger domain containing 2' SubClassOf 'has_chromosomal location' value "2q14.3" + 'LIM zinc finger domain containing 2' SubClassOf 'disease-causing germline mutation(s) in' some 'LIMS2-related limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_365648 Label(s): bleomycin hydrolase + 'bleomycin hydrolase' SubClassOf 'gene with protein product' + 'bleomycin hydrolase' SubClassOf 'has_chromosomal location' value "17q11.2" + 'bleomycin hydrolase' SubClassOf 'biomarker tested in' some 'Prediction of resistance to bleomycine in the treatment of testicular cancer' Class: http://www.orpha.net/ORDO/Orphanet_437867 Label(s): NADH:ubiquinone oxidoreductase subunit A12 + 'NADH:ubiquinone oxidoreductase subunit A12' SubClassOf 'has_chromosomal location' value "12q22" + 'NADH:ubiquinone oxidoreductase subunit A12' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH:ubiquinone oxidoreductase subunit A12' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_138561 Label(s): methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Total spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Cervical spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'gene with protein product' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Total spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'has_chromosomal location' value "14q23.3" + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Lumbosacral spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'major susceptibility factor in' some 'Upper thoracic spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_205928 Label(s): decaprenyl diphosphate synthase subunit 2 + 'decaprenyl diphosphate synthase subunit 2' SubClassOf 'has_chromosomal location' value "6q21" + 'decaprenyl diphosphate synthase subunit 2' SubClassOf 'gene with protein product' + 'decaprenyl diphosphate synthase subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_265457 Label(s): NADH:ubiquinone oxidoreductase subunit A10 + 'NADH:ubiquinone oxidoreductase subunit A10' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH:ubiquinone oxidoreductase subunit A10' SubClassOf 'has_chromosomal location' value "2q37.3" + 'NADH:ubiquinone oxidoreductase subunit A10' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_470616 Label(s): lysyl oxidase like 3 + 'lysyl oxidase like 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' + 'lysyl oxidase like 3' SubClassOf 'has_chromosomal location' value "2p13.1" + 'lysyl oxidase like 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_160053 Label(s): apolipoprotein C3 + 'apolipoprotein C3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Cholesterol-ester transfer protein deficiency' + 'apolipoprotein C3' SubClassOf 'gene with protein product' + 'apolipoprotein C3' SubClassOf 'has_chromosomal location' value "11q23.3" Class: http://www.orpha.net/ORDO/Orphanet_407416 Label(s): interferon lambda 4 (gene/pseudogene) + 'interferon lambda 4 (gene/pseudogene)' SubClassOf 'gene with protein product' + 'interferon lambda 4 (gene/pseudogene)' SubClassOf 'biomarker tested in' some 'Prediction of response to antiviral treatment in hepatitis C' + 'interferon lambda 4 (gene/pseudogene)' SubClassOf 'has_chromosomal location' value "19q13.2" Class: http://www.orpha.net/ORDO/Orphanet_396654 Label(s): NDUFA4 mitochondrial complex associated + 'NDUFA4 mitochondrial complex associated' SubClassOf 'gene with protein product' + 'NDUFA4 mitochondrial complex associated' SubClassOf 'has_chromosomal location' value "7p21.3" + 'NDUFA4 mitochondrial complex associated' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_396650 Label(s): PET100 cytochrome c oxidase chaperone + 'PET100 cytochrome c oxidase chaperone' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Leigh syndrome with leukodystrophy' + 'PET100 cytochrome c oxidase chaperone' SubClassOf 'has_chromosomal location' value "19p13.2" + 'PET100 cytochrome c oxidase chaperone' SubClassOf 'gene with protein product'