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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/253290
http://purl.bioontology.org/ontology/OMIM/253290
|
|---|---|
| Preferred Name | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE |
| Synonyms |
PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
LMPS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
LMPS
|
|---|---|
| prefLabel |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
| Gene Symbol |
ACHRG
CHRNG
|
| notation |
253290
|
| Scope Statement |
Caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene (CHRNG, 100730.0002) [MOLECULAR BASIS]
Lethal [MISCELLANEOUS]
Caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene (CHRND, 100720.0005) [MOLECULAR BASIS]
Caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1, muscle gene (CHRNA1, 100690.0013) [MOLECULAR BASIS]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
2q33-q34
|
| tui |
T047
|
| cui |
C1854678
|
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