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Leber congenital amaurosis 1

^ http://purl.obolibrary.org/obo/MONDO_0008764

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • GARD:0000635 (MONDO:equivalentTo)
  • DOID:0110078 (MONDO:equivalentTo)
  • OMIM:204000 (MONDO:equivalentTo)
  • ICD10CM:H35.5 (MONDO:relatedTo)
abbreviation
CRB [ GARD:0000635 ]

abbreviation
LCA [ OMIM:204000 ]

abbreviation
LCA1 [ MONDO:Lexical DOID:0110078 OMIM:204000 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.

exactMatch

https://omim.org/entry/204000, http://purl.obolibrary.org/obo/DOID_0110078

has exact synonym

GUCY2D Leber congenital amaurosis, amaurosis congenita of Leber I, Leber congenital amaurosis caused by mutation in GUCY2D, LCA1, Leber congenital amaurosis 1, Leber congenital amaurosis type 1

has related synonym

amaurosis congenita of Leber, type 1, CRB, retinal blindness, congenital, amaurosis congenita of Leber 1, LCA

id

MONDO:0008764