WormBase Tree Display for DO_term: DOID:0081022
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| DOID:0081022 | Name | retinal cone dystrophy 3B | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | cone dystrophy with supernormal rod responses | |||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0050795 | |||||
| DB_info | Database | OMIM | disease | 610356 | |
| Attribute_of | Gene_by_orthology | WBGene00007862 |
