Visualize Submit Comment
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

OMIM:616517

Synonyms

ACHM7 [EXACT]

Parent Relationships

is_a achromatopsia

is_a autosomal recessive disease

Add an item to the term tracker