Metadata | |
---|---|
ID | DOID:0111013 |
Name | cone-rod dystrophy 3 |
Definition | A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. https://www.ncbi.nlm.nih.gov/pubmed/9466990 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
CORD3 [EXACT] |
Parent Relationships |
is_a cone-rod dystrophy |