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Summary Literature (2)
DOID:0110498 - autosomal recessive nonsyndromic deafness 4


Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22.

Synonyms: DFNB4, autosomal recessive deafness 4 with enlarged vestibular aqueduct

Xenbase Genes : foxi1, slc26a4.3, kcnj10, slc26a4.1, slc26a4.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010933 - autosomal recessive nonsyndromic hearing loss 4

OMIM:
OMIM:600791 - DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4

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)