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ZIRC
OBO ID: DOID:0110332
Term Name: Leber congenital amaurosis 4 Search Ontology:
Synonyms:
  • LCA4
Definition: A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and has material basis in mutation in the AIPL1 gene on chromosome 17p13.https://www.ncbi.nlm.nih.gov/pubmed/10615133
References:
Ontology: Human Disease   (DOID:0110332)
OTHER Leber congenital amaurosis 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AIPL1 Retinitis pigmentosa, juvenile 604393
Cone-rod dystrophy 604393
Leber congenital amaurosis 4 604393
ZEBRAFISH MODELS
Fish Conditions Citations
aipl2oki6/oki6 standard conditions Iribarne et al., 2017
PHENOTYPE No data available

CITATIONS (1)