Metadata | |
---|---|
ID | DOID:0110009 |
Name | achromatopsia 7 |
Definition | An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. https://www.ncbi.nlm.nih.gov/pubmed/26029869, https://www.ncbi.nlm.nih.gov/pubmed/26063662 |
Xrefs | |
Synonyms |
ACHM7 [EXACT] |
Parent Relationships |
is_a achromatopsia |