Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE
Synonyms

CHRNG

ACETYLCHOLINE RECEPTOR, MUSCLE, GAMMA SUBUNIT

ACHRG

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE

ESCOBAR SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/100730

altLabel

CHRNG

ACETYLCHOLINE RECEPTOR, MUSCLE, GAMMA SUBUNIT

ACHRG

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE

ESCOBAR SYNDROME

cui

C1854678

C1413413

C0265261

Gene Locus

2q33-q34

Gene Symbol

ACHRG

CHRNG

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/100730.0007

http://purl.bioontology.org/ontology/OMIM/100730.0003

http://purl.bioontology.org/ontology/OMIM/100730.0002

http://purl.bioontology.org/ontology/OMIM/100730.0001

http://purl.bioontology.org/ontology/OMIM/100730.0004

http://purl.bioontology.org/ontology/OMIM/100730.0008

http://purl.bioontology.org/ontology/OMIM/100730.0009

http://purl.bioontology.org/ontology/OMIM/100730.0006

http://purl.bioontology.org/ontology/OMIM/100730.0005

MIMTYPEMEANING

Gene with known sequence

notation

100730

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE

tui

T047

T019

T028

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