OBO ID: DOID:0110329
Term Name: Leber congenital amaurosis 6 Search Ontology:
Synonyms:
  • LCA6
Definition: A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. https://www.ncbi.nlm.nih.gov/pubmed/11283794
References:
Ontology: Human Disease   (DOID:0110329)
OTHER Leber congenital amaurosis 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RPGRIP1 Leber congenital amaurosis 6 613826
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None