Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/600965 http://purl.bioontology.org/ontology/OMIM/600965
Preferred Name	DEAFNESS, AUTOSOMAL DOMINANT 6
Synonyms	DFNA6 DEAFNESS, AUTOSOMAL DOMINANT 14 DFNA38 DEAFNESS, AUTOSOMAL DOMINANT 38 DFNA14
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNA6 DEAFNESS, AUTOSOMAL DOMINANT 14 DFNA38 DEAFNESS, AUTOSOMAL DOMINANT 38 DFNA14
prefLabel	DEAFNESS, AUTOSOMAL DOMINANT 6
Gene Symbol	DFNA6 DFNA38 WFS WFRS WFS1 CTRCT41 WFSL DFNA14 See more See less
Scope Statement	Caused by mutation in the wolframin ER transmembrane glycoprotein gene (WFS1, 606201) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU073625
tui	T047
Gene Locus	4p16.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600965
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1833021
Moved from	605957
OMIM Entry Type	3
OMIM MimType Value	pound

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