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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616052
http://purl.bioontology.org/ontology/OMIM/616052
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 |
| Synonyms |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U
MDDGC7
LGMDR20
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 20
LGMD2U
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U
MDDGC7
LGMDR20
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 20
LGMD2U
|
|---|---|
| prefLabel | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
| Gene Symbol |
CRPPA
MDDGA7
MDDGC7
ISPD
LGMDR20
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Caused by mutation in the CDP-L-ribitol pyrophosphorylase A gene (CRPPA, 614641.0014) [MOLECULAR BASIS]
Lower limbs more severely affected [MISCELLANEOUS]
Two unrelated families have been reported (last curated October 2014) [MISCELLANEOUS]
Onset in childhood [MISCELLANEOUS]
Loss of independent ambulation due to muscle weakness in adulthood [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 7p21.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 616052
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5190987
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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 |