Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619081 http://purl.bioontology.org/ontology/OMIM/619081
Preferred Name	DEAFNESS, AUTOSOMAL DOMINANT 78
Synonyms	DFNA78
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNA78
prefLabel	DEAFNESS, AUTOSOMAL DOMINANT 78
Gene Symbol	KILQS NKCC1 SLC12A2
Scope Statement	Caused by mutation in the solute carrier family 12 (sodium/potassium/chloride transporter), member 2 gene (SLC12A2, 600840.0004) [MOLECULAR BASIS] Prelingual onset [MISCELLANEOUS] De novo mutation (in some patients) [MISCELLANEOUS] Motor delay resolves with age and may be due to vestibular dysfunction [MISCELLANEOUS] Congenital onset [MISCELLANEOUS] Non-syndromic disorder [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003302 http://purl.bioontology.org/ontology/OMIM/MTHU054659 http://purl.bioontology.org/ontology/OMIM/MTHU050211
tui	T047
Gene Locus	5q23.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619081
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5436768
OMIM Entry Type	3
OMIM MimType Value	pound

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