Search Ontology:
Human Disease

Wolfram syndrome 2

Term ID
DOID:0110630
Synonyms
  • WFS2
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. https://www.ncbi.nlm.nih.gov/pubmed/25056293
References
Ontology
Human Disease   ( DOID:0110630 )
Relationships
is a type of
inverse disjoint_from
Other Pages
Genes Involved
Zebrafish Models