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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618484
http://purl.bioontology.org/ontology/OMIM/618484
|
|---|---|
| Preferred Name | ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE |
| Synonyms |
AMCM
ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE
AMC3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AMCM
ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE
AMC3
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|---|---|
| prefLabel | ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE
|
| Gene Symbol |
AMC3
KIAA0796
EDMD4
KIAA1756
SCAR8
KIAA1262
SYNE1
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| Scope Statement | Onset in utero [MISCELLANEOUS]
Caused by mutation in the spectrin repeat-containing nuclear envelope protein 1 gene (SYNE1, 608441.0011) [MOLECULAR BASIS]
Three unrelated families have been reported (last curated July 2019) [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6q25
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618484
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193121
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |