OBO ID: DOID:0110215
Term Name: Leber congenital amaurosis 5 Search Ontology:
Synonyms:
  • LCA5
Definition: A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. https://www.ncbi.nlm.nih.gov/pubmed/17546029
References:
Ontology: Human Disease   (DOID:0110215)
OTHER Leber congenital amaurosis 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LCA5 Leber congenital amaurosis 5 604537
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None