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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609285
http://purl.bioontology.org/ontology/OMIM/609285
|
|---|---|
| Preferred Name | CONGENITAL MYOPATHY 23 |
| Synonyms |
CAP MYOPATHY 2, FORMERLY
NEM4
NEMALINE MYOPATHY 4
CAPM2, FORMERLY
CMYO23
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CAP MYOPATHY 2, FORMERLY
NEM4
NEMALINE MYOPATHY 4
CAPM2, FORMERLY
CMYO23
|
|---|---|
| prefLabel | CONGENITAL MYOPATHY 23
|
| Gene Symbol |
DA1
TMSB
AMCD1
TPM2
DA2B4
CMYO23
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|
| Scope Statement | Childhood onset (range birth to 12 years) [MISCELLANEOUS]
Caused by mutation in the tropomyosin 2 gene (TPM2, 190990.0002) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Genetic heterogeneity (see 161800) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9p13.2-p13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 609285
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1836447
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |