Wolfram syndrome 2

Summary

DOID:0110630 - Wolfram syndrome 2

Disease Ontology Definition:An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24.

Synonyms: WFS2

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

: cisd2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011502 - Wolfram syndrome 2

MONDO:0011502 - Wolfram syndrome 2

MIM:

MIM:604928 - WOLFRAM SYNDROME 2; WFS2

MIM:604928 - WOLFRAM SYNDROME 2; WFS2

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)