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Summary Literature (0)
DOID:0110529 - autosomal recessive nonsyndromic deafness 84A


Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.

Synonyms: DFNB84A, autosomal recessive deafness 84A, autosomal recessive deafness 84A with vestibular dysfunction

Xenbase Genes : ptprq

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013249 - autosomal recessive nonsyndromic deafness 84A

OMIM:
OMIM:613391 - DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A

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)