Wolfram syndrome 1

Term ID

DOID:0110629

Synonyms

• diabetes mellitus AND insipidus with optic atrophy AND deafness
• WFS1

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. https://www.ncbi.nlm.nih.gov/pubmed/21538838

References

• ICD10CM:E13.8
• OMIM:222300

Ontology

Human Disease   ( DOID:0110629 )