Disease Browser
Parent Node: Cataract (D002386) Parent Node: Genetic Diseases, X-Linked (D040181) Parent Node: Microphthalmos (D008850) ..Starting node .. Cataract, congenital, with microcornea or slight microphthalmia (C535338) Child Nodes:
Sister Nodes: ..Adams Nance syndrome (C538224) ..Anophthalmia with pulmonary hypoplasia (C537768) ..Arhinia, choanal atresia, and microphthalmia (C537429) ..Aughton syndrome (C538269) ..Behrens Baumann Dust syndrome (C537670) ..Cataract, congenital, with microcornea or slight microphthalmia (C535338) ..Coloboma, cleft lip/palate and mental retardation syndrome (C535971) ..Duker Weiss Siber syndrome (C535719) ..FRONTONASAL DYSPLASIA 3 (OMIM:613456) ..Ghose Sachdev Kumar syndrome (C537803) ..GOMBO syndrome (C537284) ..Hittner Hirsch Kreh syndrome (C538323) ..Holoprosencephaly 10 (C567278) ..Kaplowitz Bodurtha syndrome (C536893) ..Macrosomia with lethal microphthalmia (C537830) ..Microcephaly microphthalmos blindness (C537541) ..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686) ..Microcornea corectopia macular hypoplasia (C537551) ..Microgastria limb reduction defect (C537554) ..Microphthalmia and mental deficiency (C537462) ..Microphthalmia associated with colobomatous cyst (C537463) ..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370) ..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884) ..Microphthalmia, Cataracts, and Iris Abnormalities (C566448) ..Microphthalmia, Isolated 1 (C565377) ..Microphthalmia, Isolated 2 (C566446) ..Microphthalmia, Isolated 3 (C567025) ..Microphthalmia, Isolated 4 (C567757) ..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040) ..MICROPHTHALMIA, ISOLATED 6 (OMIM:613517) ..MICROPHTHALMIA, ISOLATED 7 (OMIM:613704) ..Microphthalmia, Isolated, with Cataract 1 (C563582) ..Microphthalmia, Isolated, with Cataract 2 (C565876) ..Microphthalmia, Isolated, with Cataract 3 (C564452) ..Microphthalmia, Isolated, with Cataract 4 (C566480) ..Microphthalmia, Isolated, with Coloboma 1 (C564531) ..Microphthalmia, Isolated, with Coloboma 2 (C565300) ..Microphthalmia, Isolated, with Coloboma 3 (C566447) ..Microphthalmia, Isolated, with Coloboma 4 (C565378) ..Microphthalmia, Isolated, with Coloboma 5 (C566899) ..MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703) ..Microphthalmia, Isolated, With Corectopia (C563581) ..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024) ..Microphthalmia, syndromic 1 (C537464) ..Microphthalmia, Syndromic 10 (C566985) ..Microphthalmia, syndromic 2 (C537465) ..Microphthalmia, Syndromic 3 (C565948) ..Microphthalmia, Syndromic 4 (C564457) ..Microphthalmia, Syndromic 5 (C566441) ..Microphthalmia, Syndromic 6 (C566440) ..Microphthalmia, syndromic 7 (C537466) ..Nanophthalmos 1 (C563983) ..Nanophthalmos 2 (C563700) ..Nanophthalmos 3 (C567498) ..Oculodentoosseous dysplasia recessive (C537733) ..Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880) ..Thomas Jewett Raines syndrome (C536513) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 1836
Name: Cataract, congenital, with microcornea or slight microphthalmia
Definition:
Alternative IDs: OMIM:302200
ParentIDs: MESH:D002386|MESH:D008850|MESH:D040181
TreeNumbers: C11.250.566/C535338 |C11.510.245/C535338 |C16.131.384.666/C535338 |C16.320.322/C535338
Synonyms: CATARACT 40 |CATARACT 40 WITH OR WITHOUT MICROCORNEA |Cataract, Congenital Total |Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes |Cataract congenital X-linked |Cataract, Congenital, X-Linked |Cataract, total congenital |Cataract,
Slim Mappings: Congenital abnormality|Eye disease|Genetic disease (inborn)
Reference:
MedGen: C535338
MeSH: C535338
OMIM: 302200 ; Genes: NHS ; Phenotypes Disease Causing ClinVar Variants