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Human Disease
cone-rod dystrophy 14
- Term ID
- DOID:0080314
- Synonyms
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- Definition
- A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. (2)
- References
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- MESH:C566579
- MIM:602093
- UMLS_CUI:C1838190
- UMLS_CUI:C1865869
- Ontology
- Human Disease ( DOID:0080314 )
- is a type of
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Genes Involved
Zebrafish Models