FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Wolfram syndrome 1
Synonyms
Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_0110629

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Wolfram syndrome 1

prefixIRI

DOID:0110629

prefLabel

Wolfram syndrome 1

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_10632

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