Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620384 http://purl.bioontology.org/ontology/OMIM/620384
Preferred Name	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2
Synonyms	AUNA2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AUNA2
prefLabel	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2
Gene Symbol	ATP11A HLD24 ATPIH DFNA84 ATPIS AUNA2 See more See less
Scope Statement	One large German family has been reported (last curated May 2023) [MISCELLANEOUS] Onset in second decade [MISCELLANEOUS] Caused by mutation in the ATPase, phospholipid transporting, 11A gene (ATP11A, 605868.0004) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU077224 http://purl.bioontology.org/ontology/OMIM/MTHU077225 http://purl.bioontology.org/ontology/OMIM/MTHU077223 http://purl.bioontology.org/ontology/OMIM/MTHU075347 http://purl.bioontology.org/ontology/OMIM/MTHU001056
tui	T047
Gene Locus	13q34
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620384
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5830542
OMIM Entry Type	3
OMIM MimType Value	pound

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