Metadata | |
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ID | DOID:0080314 |
Name | cone-rod dystrophy 14 |
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. https://www.ncbi.nlm.nih.gov/pubmed/28125083, https://www.ncbi.nlm.nih.gov/pubmed/9425234 |
Xrefs | |
Parent Relationships |
is_a cone-rod dystrophy |