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Summary Literature (1)
DOID:0110558 - autosomal dominant nonsyndromic deafness 2A


Disease Ontology Definition:An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2.

Synonyms: DFNA2A, autosomal dominant deafness 2A

In OMIM:
OMIM:600101 - DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A

In Mondo Disease Ontology:
MONDO:0010817 - autosomal dominant nonsyndromic deafness 2A

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gjb3, kcnq4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant nonsyndromic deafness (is_a)