Term Name: | cone-rod dystrophy 14 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080314] ( DOID:0080314 ) |