Wolfram syndrome 1

Summary

DOID:0110629 - Wolfram syndrome 1

Disease Ontology Definition:An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1.

Synonyms: diabetes mellitus AND insipidus with optic atrophy AND deafness, DIDMOAD, WFS1

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

: wfs1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009101 - Wolfram syndrome 1

MONDO:0009101 - Wolfram syndrome 1

MIM:

MIM:222300 - WOLFRAM SYNDROME 1; WFS1

MIM:222300 - WOLFRAM SYNDROME 1; WFS1

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

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

Parent(s): autosomal recessive disease (is_a), Wolfram syndrome (is_a)