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Metadata
ID DOID:0110016
Name Leber congenital amaurosis 2
Definition A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.
https://www.ncbi.nlm.nih.gov/pubmed/9326927
Xrefs

ICD10CM:H35.5

OMIM:204100

Synonyms

amaurosis congenita of Leber II [EXACT]

LCA2 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal recessive disease

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