Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

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
notation	619406
Scope Statement	Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 16 gene (KCNJ16, 605722.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
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
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	17q25
tui	T047
cui	C5543621

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