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Summary Literature (1)
DOID:0110475 - autosomal recessive nonsyndromic deafness 1A


Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.

Synonyms: DFNB1A, autosomal recessive deafness 1A

Xenbase Genes : gjb3, gjb2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009076 - autosomal recessive nonsyndromic hearing loss 1A

OMIM:
OMIM:220290 - DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

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

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