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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620389
http://purl.bioontology.org/ontology/OMIM/620389
|
|---|---|
| Preferred Name | NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT |
| Synonyms |
NEM5C
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEM5C
|
|---|---|
| prefLabel | NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT
|
| Gene Symbol |
NEM5
ANM
TNNT1
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Intrafamilial variability [MISCELLANEOUS]
Onset infancy has been reported (in 1 family) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Caused by mutation in the troponin T1, skeletal, slow gene (TNNT1, 191041.0010) [MOLECULAR BASIS]
Earlier onset shows a more severe disease course [MISCELLANEOUS]
Variable expressivity [MISCELLANEOUS]
Patients remain ambulatory into late adulthood [MISCELLANEOUS]
Onset of symptoms in the first or second decade [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19q13.4
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620389
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830549
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |