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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/100720
http://purl.bioontology.org/ontology/OMIM/100720
|
|---|---|
| Preferred Name | CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE |
| Synonyms |
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
CHRND
ACHRD
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
CHRND
ACHRD
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT
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|
|---|---|
| prefLabel |
CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE
|
| Gene Symbol |
CHRND
CMS3B
CMS3A
SCCMS
CMS3C
ACHRD
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|
| notation |
100720
|
| Has allelic variant |
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|
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
2q33-q34
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| Phenotype of |
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|
| tui |
T047
T028
|
| cui |
C4225370
C1413411
C1854678
C4225371
C4225372
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