Metadata | |
---|---|
ID | DOID:0111022 |
Name | cone-rod dystrophy 16 |
Definition | A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/26865426 |
Xrefs | |
Synonyms |
CORD16 [EXACT] retinal dystrophy with early macular involvement [EXACT] |
Parent Relationships |
is_a cone-rod dystrophy |