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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619967
http://purl.bioontology.org/ontology/OMIM/619967
|
|---|---|
| Preferred Name | CONGENITAL MYOPATHY 11 |
| Synonyms |
MYOPATHY, CONGENITAL, NONPROGRESSIVE
MYONP
CMYO11
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MYOPATHY, CONGENITAL, NONPROGRESSIVE
MYONP
CMYO11
|
|---|---|
| prefLabel | CONGENITAL MYOPATHY 11
|
| Gene Symbol |
HACD1
CMYO11
PTPLA
|
| Scope Statement | Improvement of muscle weakness during childhood and young adulthood [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Caused by mutation in the 3-@hydroxyacyl-CoA dehydratase 1 gene (HACD1, 610467.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10p12.33
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619967
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3151531
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |