OBO ID: DOID:0081022
Term Name: retinal cone dystrophy 3B Search Ontology:
Synonyms:
  • cone dystrophy with supernormal rod responses
Definition: A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. https://pubmed.ncbi.nlm.nih.gov/15722315/
References:
Ontology: Human Disease   (DOID:0081022)
OTHER retinal cone dystrophy 3B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNV2 Retinal cone dystrophy 3B 610356
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None