Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
Synonyms	HOKPP2
ID	http://purl.bioontology.org/ontology/OMIM/613345
altLabel	HOKPP2
cui	C2750061
Gene Locus	17q23.1-q25.3
Gene Symbol	CMS16 SCN4A HOKPP2 HYPP NAC1A
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU027355 http://purl.bioontology.org/ontology/OMIM/MTHU016270 http://purl.bioontology.org/ontology/OMIM/MTHU016285 http://purl.bioontology.org/ontology/OMIM/MTHU016275 http://purl.bioontology.org/ontology/OMIM/MTHU016279 http://purl.bioontology.org/ontology/OMIM/MTHU016273 http://purl.bioontology.org/ontology/OMIM/MTHU016277 http://purl.bioontology.org/ontology/OMIM/MTHU016280 http://purl.bioontology.org/ontology/OMIM/MTHU030352 http://purl.bioontology.org/ontology/OMIM/MTHU016278 http://purl.bioontology.org/ontology/OMIM/MTHU001833 http://purl.bioontology.org/ontology/OMIM/MTHU016276 http://purl.bioontology.org/ontology/OMIM/MTHU016286 http://purl.bioontology.org/ontology/OMIM/MTHU016271 http://purl.bioontology.org/ontology/OMIM/MTHU016274 http://purl.bioontology.org/ontology/OMIM/MTHU016272 http://purl.bioontology.org/ontology/OMIM/MTHU016284 http://purl.bioontology.org/ontology/OMIM/MTHU016257
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613345
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C567635	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C567635	Medical Subject Headings	LOOM