Online Mendelian Inheritance in Man - EPISODIC ATAXIA, TYPE 1 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	EPISODIC ATAXIA, TYPE 1
Synonyms	AEMK
ID	http://purl.bioontology.org/ontology/OMIM/160120
altLabel	AEMK AEM CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY ISAACS-MERTENS SYNDROME MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA MYOKYMIA 1 EPISODIC ATAXIA WITH MYOKYMIA EAM EA1 PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY ATAXIA, EPISODIC, WITH MYOKYMIA MYOKYMIA WITH PERIODIC ATAXIA
cui	C0242287 C1834559 C2674766 C1719788
Gene Locus	12p13
Gene Symbol	AEMK KCNA1 EA1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU021064 http://purl.bioontology.org/ontology/OMIM/MTHU003966 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU041363 http://purl.bioontology.org/ontology/OMIM/MTHU036965 http://purl.bioontology.org/ontology/OMIM/MTHU036959 http://purl.bioontology.org/ontology/OMIM/MTHU036961 http://purl.bioontology.org/ontology/OMIM/MTHU018247 http://purl.bioontology.org/ontology/OMIM/MTHU036963 http://purl.bioontology.org/ontology/OMIM/MTHU001001 http://purl.bioontology.org/ontology/OMIM/MTHU021063 http://purl.bioontology.org/ontology/OMIM/MTHU026515 http://purl.bioontology.org/ontology/OMIM/MTHU015056 http://purl.bioontology.org/ontology/OMIM/MTHU003127 http://purl.bioontology.org/ontology/OMIM/MTHU021065 http://purl.bioontology.org/ontology/OMIM/MTHU006416 http://purl.bioontology.org/ontology/OMIM/MTHU036958 http://purl.bioontology.org/ontology/OMIM/MTHU036964 http://purl.bioontology.org/ontology/OMIM/MTHU041364 http://purl.bioontology.org/ontology/OMIM/MTHU036960 http://purl.bioontology.org/ontology/OMIM/MTHU036348 http://purl.bioontology.org/ontology/OMIM/MTHU016932 http://purl.bioontology.org/ontology/OMIM/MTHU021066 http://purl.bioontology.org/ontology/OMIM/MTHU015610 http://purl.bioontology.org/ontology/OMIM/MTHU026516 http://purl.bioontology.org/ontology/OMIM/MTHU026514 http://purl.bioontology.org/ontology/OMIM/MTHU021068
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	160100 121020
notation	160120
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	EPISODIC ATAXIA, TYPE 1
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C567174	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D020386	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C563545	Medical Subject Headings	CUI
	http://purl.obolibrary.org/obo/DOID_0050989	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/MESH/C563278	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C563278	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/ICD10CM/G71.19	International Classification of Diseases, Version 10 - Clinical Modification	CUI