Metadata | |
---|---|
ID | DOID:0111026 |
Name | cone-rod dystrophy 20 |
Definition | A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/24945461, https://www.ncbi.nlm.nih.gov/pubmed/25018096 |
Xrefs | |
Synonyms |
CORD20 [EXACT] |
Parent Relationships |
is_a cone-rod dystrophy |