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General Information
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| Term |
retinal cone dystrophy 3B |
ID (Ontology) |
DOID:0081022 (Human Disease) |
| 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. |
| Also Known As |
"cone dystrophy with supernormal rod responses" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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retinal cone dystrophy 3B | 1 | for disease ribbon | retinal cone dystrophy 3B | 1 | model of | retinal cone dystrophy 3B | 1 |
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Relationships