Online Mendelian Inheritance in Man - CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1
Synonyms	MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
ID	http://purl.bioontology.org/ontology/OMIM/100690
altLabel	MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL CHRNA MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT CHRNA1 ACHRA MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
cui	C4084823 C1413401 C4225405 C1854678
Gene Locus	2q24-q32
Gene Symbol	CMS1A CMS1B ACHRD CHRNA1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/100690.0004 http://purl.bioontology.org/ontology/OMIM/100690.0013 http://purl.bioontology.org/ontology/OMIM/100690.0011 http://purl.bioontology.org/ontology/OMIM/100690.0012 http://purl.bioontology.org/ontology/OMIM/100690.0006 http://purl.bioontology.org/ontology/OMIM/100690.0005 http://purl.bioontology.org/ontology/OMIM/100690.0010 http://purl.bioontology.org/ontology/OMIM/100690.0002 http://purl.bioontology.org/ontology/OMIM/100690.0001 http://purl.bioontology.org/ontology/OMIM/100690.0003 http://purl.bioontology.org/ontology/OMIM/100690.0014 http://purl.bioontology.org/ontology/OMIM/100690.0015 http://purl.bioontology.org/ontology/OMIM/100690.0007 http://purl.bioontology.org/ontology/OMIM/100690.0008 http://purl.bioontology.org/ontology/OMIM/100690.0016 http://purl.bioontology.org/ontology/OMIM/100690.0009
MIMTYPEMEANING	Gene with known sequence
notation	100690
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1
tui	T028 T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537377	Medical Subject Headings	CUI