ZFIN Human Disease: Wolfram syndrome 2

OBO ID: DOID:0110630

Term Name:	Wolfram syndrome 2		Search Ontology:
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:	ICD10CM:E13.8 MESH:C565733 OMIM:604928
Ontology:	Human Disease ( DOID:0110630 )

Relationships

is a type of:	autosomal recessive disease Wolfram syndrome autosomal recessive disease Wolfram syndrome Show first 5 Terms
inverse disjoint_from:	Wolfram syndrome 1 Wolfram syndrome 1 Show first 5 Terms

OTHER Wolfram syndrome 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CISD2	cisd2	Wolfram syndrome 2	604928

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None