Metadata | |
---|---|
ID | DOID:0111015 |
Name | Newfoundland cone-rod dystrophy |
Definition | A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. https://www.ncbi.nlm.nih.gov/pubmed/11868161 |
Xrefs | |
Synonyms |
NFRCD [EXACT] |
Parent Relationships |
is_a cone-rod dystrophy |