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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/606768
http://purl.bioontology.org/ontology/OMIM/606768
|
|---|---|
| Preferred Name | MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET |
| Synonyms |
DMAT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DMAT
|
|---|---|
| prefLabel | MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
|
| Gene Symbol |
DYSF
MMD1
LGMDR2
|
| Scope Statement | Rapidly progressive [MISCELLANEOUS]
Onset age 14-28 years [MISCELLANEOUS]
Caused by mutation in the dysferlin gene (DYSF, 603009.0002) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 2p13.3-p13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 606768
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1847532
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |