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Leber congenital amaurosis 2

^ http://purl.obolibrary.org/obo/MONDO_0008765

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • GARD:0000636 (MONDO:equivalentTo)
  • OMIM:204100 (MONDO:equivalentTo)
  • DOID:0110016 (MONDO:equivalentTo)
  • UMLS:C1859844 (OMIM:204100)
  • ICD10CM:H35.5 (MONDO:relatedTo)
  • MESH:C536601 (MONDO:equivalentTo)
Subsets

gard_rare

abbreviation
LCA2 [ OMIM:204100 MONDO:Lexical DOID:0110016 ]

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 RPE65 gene.

exactMatch

http://identifiers.org/mesh/C536601, http://linkedlifedata.com/resource/umls/id/C1859844, https://omim.org/entry/204100, http://purl.obolibrary.org/obo/DOID_0110016

has exact synonym

Leber congenital amaurosis type 2, Leber congenital amaurosis caused by mutation in RPE65, amaurosis congenita of Leber II, LCA2, Leber congenital amaurosis 2, RPE65 Leber congenital amaurosis

has related synonym

amaurosis congenita of Leber, type 2, amaurosis congenita of Leber 2

id

MONDO:0008765

seeAlso

https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2