Cone-Rod Dystrophy 12

Preferred Label : Cone-Rod Dystrophy 12;

NCIt synonyms : CORD12;

NCIt definition : An inherited condition caused by mutations in the PROM1 gene, encoding prominin-1. It is characterized by a progressive reduction in color vision and loss of visual acuity.;

Details

Origin ID

C212886;

Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Eye [NCIt concept]
- Retina [NCIt concept]
disease_mapped_to_gene
- PROM1 Gene [NCIt concept]

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