01
ANO5
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Sarcoglycanopathies
- Standard Disease Name
- sarcoglycanopathies
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D058088
- OMIM ID
- No data
- UMLS ID
- C2936331
- HPO ID
- No data
Description and Extensions
- Description
- MSH2017_2016_08_12:Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
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