OBO ID: DOID:0110016
Term Name: Leber congenital amaurosis 2 Search Ontology:
Synonyms:
  • amaurosis congenita of Leber II
  • LCA2
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
References:
Ontology: Human Disease   (DOID:0110016)
OTHER Leber congenital amaurosis 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RPE65 Leber congenital amaurosis 2 204100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None