{"orpha":522548,"name":"Syndromic genetic cataract","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-522548/","orphanet_url":"https://www.orpha.net/en/disease/detail/522548","names":{"fr":{"name":"Cataracte génétique syndromique"},"de":{"name":"Syndromale genetisch bedingte Katarakt"},"es":{"name":"Catarata genética sindrómica"},"it":{"name":"Cataratta genetica sindromica"},"nl":{"name":"Syndromaal genetisch cataract"},"pt":{"name":"Catarata genética sindromática"},"pl":{"name":"Zespół zaćmy uwarunkowanej genetycznie"},"cs":{"name":"Syndromická genetická katarakta"},"uk":{"name":"Синдромальна генетично обумовлена катаракта"},"zh":{"name":"综合征性遗传性白内障"},"tr":{"name":"Sendromik genetik katarakt"}},"xrefs":[{"source":"UMLS","code":"C5681418","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522546,"name":"Rare genetic disorder with lens opacification","classifications":[156]}],"children":[{"orpha":2310,"name":"Absence deformity of leg-cataract syndrome","type":"Malformation syndrome"},{"orpha":974,"name":"Adams-Oliver syndrome","type":"Malformation syndrome"},{"orpha":3137,"name":"Alpha-N-acetylgalactosaminidase deficiency","type":"Disease"},{"orpha":64,"name":"Alström syndrome","type":"Disease"},{"orpha":1068,"name":"Aniridia-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":3453,"name":"Autoimmune polyendocrinopathy type 1","type":"Disease"},{"orpha":447753,"name":"Autosomal dominant spastic paraplegia type 9A","type":"Disease"},{"orpha":1170,"name":"Autosomal recessive cerebelloparenchymal disorder type 3","type":"Disease"},{"orpha":1366,"name":"Autosomal recessive palmoplantar keratoderma and congenital alopecia","type":"Disease"},{"orpha":1272,"name":"Aymé-Gripp syndrome","type":"Malformation syndrome"},{"orpha":464738,"name":"Basel-Vanagaite-Smirin-Yosef syndrome","type":"Malformation syndrome"},{"orpha":1239,"name":"Behr syndrome","type":"Malformation syndrome"},{"orpha":90340,"name":"Blau syndrome","type":"Disease"},{"orpha":50945,"name":"Blomstrand lethal chondrodysplasia","type":"Malformation syndrome"},{"orpha":1458,"name":"CODAS syndrome","type":"Malformation syndrome"},{"orpha":1345,"name":"Cardiomyopathy-cataract-hip spine disease syndrome","type":"Disease"},{"orpha":1373,"name":"Cataract-aberrant oral frenula-growth delay syndrome","type":"Malformation syndrome"},{"orpha":1368,"name":"Cataract-ataxia-deafness syndrome","type":"Disease"},{"orpha":314993,"name":"Cataract-congenital heart disease-neural tube defect syndrome","type":"Malformation syndrome"},{"orpha":1383,"name":"Cataract-deafness-hypogonadism syndrome","type":"Malformation syndrome"},{"orpha":436174,"name":"Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome","type":"Disease"},{"orpha":1375,"name":"Cataract-hypertrichosis-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":1387,"name":"Cataract-intellectual disability-hypogonadism syndrome","type":"Malformation syndrome"},{"orpha":1377,"name":"Cataract-microcornea syndrome","type":"Malformation syndrome"},{"orpha":1380,"name":"Cataract-nephropathy-encephalopathy syndrome","type":"Malformation syndrome"},{"orpha":98642,"name":"Chromosomal anomaly with cataract","type":"Category"},{"orpha":93267,"name":"Cloverleaf skull-multiple congenital anomalies syndrome","type":"Malformation syndrome"},{"orpha":3233,"name":"Cochleosaccular degeneration-cataract syndrome","type":"Malformation syndrome"},{"orpha":289499,"name":"Congenital cataract microcornea with corneal opacity","type":"Malformation syndrome"},{"orpha":162,"name":"Congenital cataract-anterior segment dysgenesis syndrome","type":"Malformation syndrome"},{"orpha":300313,"name":"Congenital cataract-hearing loss-severe developmental delay syndrome","type":"Disease"},{"orpha":1369,"name":"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome","type":"Disease"},{"orpha":330054,"name":"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome","type":"Disease"},{"orpha":521432,"name":"Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome","type":"Disease"},{"orpha":48431,"name":"Congenital cataracts-facial dysmorphism-neuropathy syndrome","type":"Malformation syndrome"},{"orpha":662184,"name":"Congenital muscular dystrophy-cataract-intellectual disability syndrome","type":"Disease"},{"orpha":1875,"name":"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome","type":"Disease"},{"orpha":2772,"name":"Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome","type":"Malformation syndrome"},{"orpha":98650,"name":"Craniofacial anomaly with cataract","type":"Category"},{"orpha":50814,"name":"Craniolenticulosutural dysplasia","type":"Malformation syndrome"},{"orpha":2674,"name":"Cyprus facial-neuromusculoskeletal syndrome","type":"Malformation syndrome"},{"orpha":1563,"name":"Dahlberg-Borer-Newcomer syndrome","type":"Malformation syndrome"},{"orpha":85321,"name":"Deafness-intellectual disability syndrome, Martin-Probst type","type":"Malformation syndrome"},{"orpha":3231,"name":"Deafness-onychodystrophy syndrome","type":"Clinical group"},{"orpha":98649,"name":"Dentocutaneous disease with cataract","type":"Category"},{"orpha":79107,"name":"Developmental malformations-deafness-dystonia syndrome","type":"Malformation syndrome"},{"orpha":1884,"name":"Ectopia lentis-chorioretinal dystrophy-myopia syndrome","type":"Disease"},{"orpha":35125,"name":"Epidermal nevus syndrome","type":"Disease"},{"orpha":317,"name":"Erythrokeratodermia variabilis","type":"Disease"},{"orpha":2238,"name":"Familial isolated hypoparathyroidism","type":"Disease"},{"orpha":2047,"name":"Flynn-Aird syndrome","type":"Disease"},{"orpha":2253,"name":"Foveal hypoplasia-presenile cataract syndrome","type":"Disease"},{"orpha":637,"name":"Full NF2-related schwannomatosis","type":"Disease"},{"orpha":726677,"name":"Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome","type":"Malformation syndrome"},{"orpha":2115,"name":"Harrod syndrome","type":"Malformation syndrome"},{"orpha":163,"name":"Hereditary hyperferritinemia-cataract syndrome","type":"Disease"},{"orpha":1839,"name":"Hereditary mucoepithelial dysplasia","type":"Malformation syndrome"},{"orpha":189,"name":"Hidrotic ectodermal dysplasia","type":"Disease"},{"orpha":1397,"name":"Hydrocephaly-cerebellar agenesis syndrome","type":"Malformation syndrome"},{"orpha":2410,"name":"Hypergonadotropic hypogonadism-cataract syndrome","type":"Malformation syndrome"},{"orpha":85163,"name":"Hypomyelination-congenital cataract syndrome","type":"Malformation syndrome"},{"orpha":2250,"name":"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome","type":"Disease"},{"orpha":2278,"name":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome","type":"Malformation syndrome"},{"orpha":3173,"name":"Infantile spasms-broad thumbs syndrome","type":"Disease"},{"orpha":3042,"name":"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome","type":"Malformation syndrome"},{"orpha":250923,"name":"Isolated aniridia","type":"Morphological anomaly"},{"orpha":247794,"name":"Juvenile cataract-microcornea-renal glucosuria syndrome","type":"Disease"},{"orpha":65,"name":"Leber congenital amaurosis","type":"Disease"},{"orpha":478049,"name":"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome","type":"Disease"},{"orpha":33001,"name":"Lymphedema-distichiasis syndrome","type":"Malformation syndrome"},{"orpha":263347,"name":"MRCS syndrome","type":"Disease"},{"orpha":2457,"name":"Mandibuloacral dysplasia","type":"Malformation syndrome"},{"orpha":559,"name":"Marinesco-Sjögren syndrome","type":"Disease"},{"orpha":560,"name":"Marshall syndrome","type":"Malformation syndrome"},{"orpha":564,"name":"Meckel syndrome","type":"Malformation syndrome"},{"orpha":98644,"name":"Metabolic disease with cataract","type":"Category"},{"orpha":2510,"name":"Micro syndrome","type":"Malformation syndrome"},{"orpha":85172,"name":"Microcephalic osteodysplastic dysplasia, Saul-Wilson type","type":"Disease"},{"orpha":2643,"name":"Microcephalic primordial dwarfism, Toriello type","type":"Malformation syndrome"},{"orpha":3433,"name":"Microcephaly-brachydactyly-kyphoscoliosis syndrome","type":"Malformation syndrome"},{"orpha":488168,"name":"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome","type":"Malformation syndrome"},{"orpha":2528,"name":"Microcephaly-microcornea syndrome, Seemanova type","type":"Malformation syndrome"},{"orpha":139471,"name":"Microphthalmia with brain and digit anomalies","type":"Malformation syndrome"},{"orpha":2551,"name":"Microspherophakia-metaphyseal dysplasia syndrome","type":"Malformation syndrome"},{"orpha":98648,"name":"Musculoskeletal disease with cataract","type":"Category"},{"orpha":2663,"name":"Nathalie syndrome","type":"Malformation syndrome"},{"orpha":649,"name":"Norrie disease","type":"Malformation syndrome"},{"orpha":2714,"name":"Oculo-palato-cerebral syndrome","type":"Malformation syndrome"},{"orpha":2719,"name":"Oculocerebral hypopigmentation syndrome, Cross type","type":"Malformation syndrome"},{"orpha":2720,"name":"Oculocerebral hypopigmentation syndrome, Preus type","type":"Malformation syndrome"},{"orpha":2710,"name":"Oculodentodigital dysplasia","type":"Malformation syndrome"},{"orpha":2712,"name":"Oculofaciocardiodental syndrome","type":"Malformation syndrome"},{"orpha":557003,"name":"Oculoskeletodental syndrome","type":"Disease"},{"orpha":2788,"name":"Osteoporosis-pseudoglioma syndrome","type":"Disease"},{"orpha":91495,"name":"Persistent hyperplastic primary vitreous","type":"Disease"},{"orpha":2969,"name":"Proteus-like syndrome","type":"Clinical subtype"},{"orpha":606,"name":"Proximal myotonic myopathy","type":"Disease"},{"orpha":98646,"name":"Renal disease with cataract","type":"Category"},{"orpha":3085,"name":"Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome","type":"Malformation syndrome"},{"orpha":729761,"name":"Sandestig-Stefanova syndrome","type":"Malformation syndrome"},{"orpha":2036,"name":"Scalp-ear-nipple syndrome","type":"Malformation syndrome"},{"orpha":800,"name":"Schwartz-Jampel syndrome","type":"Disease"},{"orpha":500545,"name":"Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract","type":"Disease"},{"orpha":3167,"name":"Siegler-Brewer-Carey syndrome","type":"Malformation syndrome"},{"orpha":821,"name":"Sotos syndrome","type":"Disease"},{"orpha":2572,"name":"Spastic ataxia-corneal dystrophy syndrome","type":"Disease"},{"orpha":85194,"name":"Spondylo-ocular syndrome","type":"Malformation syndrome"},{"orpha":3301,"name":"Tetraamelia-multiple malformations syndrome","type":"Malformation syndrome"},{"orpha":1264,"name":"Tricho-retino-dento-digital syndrome","type":"Malformation syndrome"},{"orpha":33364,"name":"Trichothiodystrophy","type":"Disease"},{"orpha":2489,"name":"Upper limb defect-eye and ear abnormalities syndrome","type":"Malformation syndrome"},{"orpha":1493,"name":"Vici syndrome","type":"Malformation syndrome"},{"orpha":893,"name":"WAGR syndrome","type":"Malformation syndrome"},{"orpha":902,"name":"Werner syndrome","type":"Disease"},{"orpha":85276,"name":"X-linked intellectual disability, Armfield type","type":"Malformation syndrome"},{"orpha":163937,"name":"X-linked intellectual disability, Najm type","type":"Disease"},{"orpha":792,"name":"X-linked retinoschisis","type":"Malformation syndrome"},{"orpha":910,"name":"Xeroderma pigmentosum","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}