autosomal recessive nonsyndromic deafness 49

Summary

DOID:0110506 - autosomal recessive nonsyndromic deafness 49

Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13.

Synonyms: DFNB49, autosomal recessive deafness 49,

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

: marveld2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012420 - autosomal recessive nonsyndromic hearing loss 49

MONDO:0012420 - autosomal recessive nonsyndromic hearing loss 49

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)