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Metadata
ID	DOID:0110630
Name	Wolfram syndrome 2
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
Xrefs	ICD10CM:E13.8 MESH:C565733 OMIM:604928
Synonyms	WFS2 [EXACT]
Parent Relationships	is_a Wolfram syndrome is_a autosomal recessive disease