Metadata | |
---|---|
ID | DOID:0111025 |
Name | cone-rod dystrophy 19 |
Definition | A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. https://www.ncbi.nlm.nih.gov/pubmed/24791901 |
Xrefs | |
Synonyms |
CORD19 [EXACT] |
Parent Relationships |
is_a cone-rod dystrophy |