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Summary Literature (0)
DOID:0110008 - achromatopsia 3

Disease Ontology Definition:An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.

Synonyms: ACHM1, ACHM3, Pingelapese blindness, RMCH1, rod monochromacy 1, rod monochromatism 1

Xenbase Genes : cngb3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009875 - achromatopsia 3

MIM:
MIM:262300 - ACHROMATOPSIA 3; ACHM3

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)