OBO ID: DOID:0110330
Term Name: Leber congenital amaurosis 13 Search Ontology:
Synonyms:
  • LCA13
Definition: A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. https://www.ncbi.nlm.nih.gov/pubmed/15258582
References:
Ontology: Human Disease   (DOID:0110330)
OTHER Leber congenital amaurosis 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RDH11 Leber congenital amaurosis 13 612712
RDH12 Leber congenital amaurosis 13 612712
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None