Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
Jump to:
Id http://purl.obolibrary.org/obo/DOID_0110630
http://purl.obolibrary.org/obo/DOID_0110630
Preferred Name

Wolfram syndrome 2
Definitions
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.
Synonyms
WFS2
Type http://www.w3.org/2002/07/owl#Class

All Properties

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.
alternative label
WFS2
preferred label
Wolfram syndrome 2
label
Wolfram syndrome 2
prefLabel
Wolfram syndrome 2
database_cross_reference
ICD10CM:E13.8
MESH:C565733
MIM:604928
notation
DOID:0110630
id
DOID:0110630
note
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.
has phenotype
has symptom
has material basis in
has_obo_namespace
disease_ontology
subClassOf
type
has exact synonym
WFS2
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display