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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620793
http://purl.bioontology.org/ontology/OMIM/620793
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 29 |
| Synonyms |
LGMDR29
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | LGMDR29
|
|---|---|
| prefLabel | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 29
|
| Gene Symbol |
LGMDR29
RNUT1
SNUPN
|
| Scope Statement | Caused by mutation in the snurportin 1 gene (SNUPN, 607902.0001) [MOLECULAR BASIS]
Respiratory insufficiency may require nocturnal or mechanical ventilation [MISCELLANEOUS]
Onset in first decade [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q24.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620793
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5935611
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |