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Summary Literature (0)
DOID:0110009 - achromatopsia 7

Disease Ontology Definition:An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.

Synonyms: ACHM7

Xenbase Genes : atf6

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014677 - distal interphalangeal joint of digit 2


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): achromatopsia (is_a), autosomal recessive disease (is_a)