Search Ontology:
Human Disease

Leber congenital amaurosis 2

Term ID
DOID:0110016
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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