Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	HYPERKALEMIC PERIODIC PARALYSIS
Synonyms	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
ID	http://purl.bioontology.org/ontology/OMIM/170500
altLabel	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE GAMSTORP DISEASE HYPP ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA
cui	C1868433 C0238357
Gene Locus	17q23.1-q25.3
Gene Symbol	CMS16 SCN4A HOKPP2 HYPP NAC1A
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU016267 http://purl.bioontology.org/ontology/OMIM/MTHU016263 http://purl.bioontology.org/ontology/OMIM/MTHU016261 http://purl.bioontology.org/ontology/OMIM/MTHU027369 http://purl.bioontology.org/ontology/OMIM/MTHU016265 http://purl.bioontology.org/ontology/OMIM/MTHU016260 http://purl.bioontology.org/ontology/OMIM/MTHU001560 http://purl.bioontology.org/ontology/OMIM/MTHU027356 http://purl.bioontology.org/ontology/OMIM/MTHU016258 http://purl.bioontology.org/ontology/OMIM/MTHU016264 http://purl.bioontology.org/ontology/OMIM/MTHU016268 http://purl.bioontology.org/ontology/OMIM/MTHU016262 http://purl.bioontology.org/ontology/OMIM/MTHU027370 http://purl.bioontology.org/ontology/OMIM/MTHU016259 http://purl.bioontology.org/ontology/OMIM/MTHU016257 http://purl.bioontology.org/ontology/OMIM/MTHU027357
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	170500
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPERKALEMIC PERIODIC PARALYSIS
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D020513	Medical Subject Headings	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123429	National Cancer Institute Thesaurus	LOOM
http://purl.obolibrary.org/obo/DOID_14451	Human Disease Ontology 123	LOOM
http://purl.bmicc.cn/ontology/ICD11CN/8C74.11	International Classification of Diseases, 11th Edition, China	LOOM
http://purl.bioontology.org/ontology/ICD10CM/G72.3	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/C566809	Medical Subject Headings	CUI