autosomal recessive nonsyndromic deafness 84A

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ptprq

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013249 - autosomal recessive nonsyndromic hearing loss 84A

MONDO:0013249 - autosomal recessive nonsyndromic hearing loss 84A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive nonsyndromic deafness (is_a)