FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term cone-rod dystrophy 14 ID (Ontology) DOID:0080314 (Human Disease)
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.
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 cone-rod dystrophy 14       2
 for disease ribbon | cone-rod dystrophy 14       2
 model of | cone-rod dystrophy 14       2
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monogenic disease_____
retinal degeneration__|
                      cone-rod dystrophy
                       |__cone-rod dystrophy 14  2 rec.
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MESH:C566579
MIM:602093
UMLS_CUI:C1838190
UMLS_CUI:C1865869