OBO ID: DOID:0081022 |
Term Name: | retinal cone dystrophy 3B | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0081022 ) |
OTHER retinal cone dystrophy 3B PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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