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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615351
http://purl.bioontology.org/ontology/OMIM/615351
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|---|---|
| Preferred Name | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 |
| Synonyms |
MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
MDDGB14
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
MDDGB14
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|---|---|
| prefLabel | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14
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| Gene Symbol |
KIAA1851
MDDGC14
LGMDR19
GMPPB
MDDGB14
MDDGA14
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| Scope Statement | Onset at birth or in early infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Caused by mutation in the GDP-mannose pyrophosphorylase B gene (GMPPB, 615320.0004) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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|
| tui | T047
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| Gene Locus | 3p21.31
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 615351
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3809221
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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 |