Visualize Submit Comment
Metadata
ID DOID:0111019
Name cone-rod dystrophy 12
Definition A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15.
https://pubmed.ncbi.nlm.nih.gov/35947379/, https://www.ncbi.nlm.nih.gov/pubmed/18654668, https://www.ncbi.nlm.nih.gov/pubmed/24474277
Xrefs

MESH:C567206

MIM:612657

Synonyms

CORD12 [EXACT]

Parent Relationships

is_a cone-rod dystrophy

Add an item to the term tracker