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 | |
Synonyms |
CORD12 [EXACT] |
Parent Relationships |
is_a cone-rod dystrophy |