Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619406 http://purl.bioontology.org/ontology/OMIM/619406
Preferred Name	HYPOKALEMIC TUBULOPATHY AND DEAFNESS
Synonyms	HKTD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HKTD
prefLabel	HYPOKALEMIC TUBULOPATHY AND DEAFNESS
Gene Symbol	KCNJ16 HKTD KIR5.1
Scope Statement	Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 16 gene (KCNJ16, 605722.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU019647 http://purl.bioontology.org/ontology/OMIM/MTHU003378 http://purl.bioontology.org/ontology/OMIM/MTHU036407 http://purl.bioontology.org/ontology/OMIM/MTHU074015 http://purl.bioontology.org/ontology/OMIM/MTHU001907 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU036658 http://purl.bioontology.org/ontology/OMIM/MTHU037106 http://purl.bioontology.org/ontology/OMIM/MTHU003374 http://purl.bioontology.org/ontology/OMIM/MTHU036873 See more See less
tui	T047
Gene Locus	17q25
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619406
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5543621
OMIM Entry Type	3
OMIM MimType Value	pound

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