Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/600994 http://purl.bioontology.org/ontology/OMIM/600994
Preferred Name	DEAFNESS, AUTOSOMAL DOMINANT 5
Synonyms	DFNA5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNA5
prefLabel	DEAFNESS, AUTOSOMAL DOMINANT 5
Gene Symbol	DFNA5 GSDME
Scope Statement	Variable age of onset, ranging from 11 to 50 years [MISCELLANEOUS] Caused by mutation in the DFNA5 gene (608798.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU022565
tui	T047
Gene Locus	7p15
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600994
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1832932
Moved from	124800
OMIM Entry Type	3
OMIM MimType Value	pound

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