Search Ontology:
Human Disease
Wolfram syndrome 1
- Term ID
- DOID:0110629
- Synonyms
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- 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
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- ICD10CM:E13.8
- MIM:222300
- Ontology
- Human Disease ( DOID:0110629 )
- is a type of
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- disjoint_from
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Genes Involved
Zebrafish Models