JSON

early-onset non-syndromic cataract

^ http://purl.obolibrary.org/obo/MONDO_0011060

Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected. [ Orphanet:91492 ]

Term info

database cross reference
  • UMLS:C1832423 (OMIM:601371)
  • OMIM:601371 (MONDO:equivalentTo)
  • Orphanet:91492 (OMIM:601371)
Subsets

ordo_disease

comment

Not in the OMIM series.

definition

Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_91492, http://linkedlifedata.com/resource/umls/id/C1832423, https://omim.org/entry/601371

has related synonym

nuclear sclerosis of the lens, cataract, age-related nuclear

id

MONDO:0011060