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Summary Literature (0)
DOID:0110509 - autosomal recessive nonsyndromic deafness 53


Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.

Synonyms: DFNB53, autosomal recessive deafness 53

Xenbase Genes : col11a2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012333 - autosomal recessive nonsyndromic deafness 53

OMIM:
OMIM:609706 - DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53

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)