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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/600334
http://purl.bioontology.org/ontology/OMIM/600334
|
|---|---|
| Preferred Name | TIBIAL MUSCULAR DYSTROPHY, TARDIVE |
| Synonyms |
TARDIVE TIBIAL MUSCULAR DYSTROPHY
TMD
UDD MYOPATHY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
TARDIVE TIBIAL MUSCULAR DYSTROPHY
TMD
UDD MYOPATHY
|
|---|---|
| prefLabel | TIBIAL MUSCULAR DYSTROPHY, TARDIVE
|
| Gene Symbol |
CMYO5
LGMDR10
TMD
MPRM
HMERF
CMD1G
TTN
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|
| Scope Statement | Cardiomyopathy is not a feature [MISCELLANEOUS]
Caused by heterozygous mutation in the titin gene (TTN, 188840.0004) [MOLECULAR BASIS]
Incomplete penetrance [MISCELLANEOUS]
Slow progression without marked disability [MISCELLANEOUS]
Adult onset (after age 35 years) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 600334
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1838244
C1450052
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |