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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/602771
http://purl.bioontology.org/ontology/OMIM/602771
|
|---|---|
| Preferred Name | CONGENITAL MYOPATHY 3 WITH RIGID SPINE |
| Synonyms |
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY
MDRS1
MULTICORE MYOPATHY, SEVERE CLASSIC FORM, FORMERLY
MULTIMINICORE DISEASE, SEVERE CLASSIC FORM, FORMERLY
RSMD1
RSS
RIGID SPINE SYNDROME
DESMIN-RELATED MYOPATHY WITH MALLORY BODIES, FORMERLY
MYOPATHY, SEPN1-RELATED
MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE, FORMERLY
RIGID SPINE MUSCULAR DYSTROPHY 1
CMYO3
MINICORE MYOPATHY, SEVERE CLASSIC FORM, FORMERLY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY
MDRS1
MULTICORE MYOPATHY, SEVERE CLASSIC FORM, FORMERLY
MULTIMINICORE DISEASE, SEVERE CLASSIC FORM, FORMERLY
RSMD1
RSS
RIGID SPINE SYNDROME
DESMIN-RELATED MYOPATHY WITH MALLORY BODIES, FORMERLY
MYOPATHY, SEPN1-RELATED
MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE, FORMERLY
RIGID SPINE MUSCULAR DYSTROPHY 1
CMYO3
MINICORE MYOPATHY, SEVERE CLASSIC FORM, FORMERLY
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|---|---|
| prefLabel | CONGENITAL MYOPATHY 3 WITH RIGID SPINE
|
| Gene Symbol |
SEPN1
CMYO3
SELENON
SELN
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| Scope Statement | Childhood onset has been reported [MISCELLANEOUS]
Nonprogressive or slowly progressive [MISCELLANEOUS]
Death before adulthood due to respiratory failure (in some patients) [MISCELLANEOUS]
Onset usually in infancy [MISCELLANEOUS]
Most patients remain ambulatory [MISCELLANEOUS]
Caused by mutation in the selenoprotein N gene (SELENON, 606210.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 1p36-p35
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 602771
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0410180
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| Moved from | 253850
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |