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Metadata
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 GUCA1A on chromosome 6p21.1.
https://www.ncbi.nlm.nih.gov/pubmed/28125083, https://www.ncbi.nlm.nih.gov/pubmed/9425234
Xrefs

MESH:C566579

OMIM:602093

UMLS_CUI:C1838190

UMLS_CUI:C1865869

Parent Relationships

is_a cone-rod dystrophy

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