autosomal recessive nonsyndromic deafness 48

Summary

DOID:0110505 - autosomal recessive nonsyndromic deafness 48

Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25.

Synonyms: autosomal recessive deafness 48, DFNB48

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

: cib2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012273 - periampullary region of duodenum

MONDO:0012273 - periampullary region of duodenum

MIM:

MIM:609439 - DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48

MIM:609439 - DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48

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)