Descriptor English: | Sarcoglycanopathies | ||||
Descriptor Spanish: |
Sarcoglicanopatías
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Descriptor Portuguese: | Sarcoglicanopatias | ||||
Descriptor French: | Sarcoglycanopathies | ||||
Entry term(s): |
Adhalinopathies Adhalinopathies, Primary Adhalinopathy, Primary Alpha Sarcoglycanopathies Alpha Sarcoglycanopathy Alpha-Sarcoglycanopathies Alpha-Sarcoglycanopathy Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2 Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 LGMD2D Limb Girdle Muscular Dystrophy, Type 2D Limb-Girdle Muscular Dystrophy, Type 2D Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2D Primary Adhalinopathies Primary Adhalinopathy Sarcoglycanopathy |
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Tree number(s): |
C05.651.534.500.280.500 C08.618.923 C10.668.491.175.500.149.500 C14.280.238.812 C16.320.577.280.500 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D058088 | ||||
Scope note: | 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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Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CN congenital CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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Public MeSH Note: | 2011 |
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History Note: | 2011 |
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DeCS ID: | 53951 | ||||
Unique ID: | D058088 | ||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
Date Established: | 2011/01/01 | ||||
Date of Entry: | 2010/06/25 | ||||
Revision Date: | 2013/07/08 |
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Sarcoglycanopathies
- Preferred
Alpha-Sarcoglycanopathies
- Narrower
Concept UI |
M0540771 |
Scope note | 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. |
Preferred term | Sarcoglycanopathies |
Entry term(s) |
Sarcoglycanopathy |
Concept UI |
M0540772 |
Scope note | Limb girdle muscular dystrophies due to mutations in the gene for the ALPHA-SARCOGLYCAN or deficiencies in alpha-sarcoglycan due to a mutation in another gene (secondary alpha-sarcoglycanopathy). |
Preferred term | Alpha-Sarcoglycanopathies |
Entry term(s) |
Adhalinopathies Adhalinopathies, Primary Adhalinopathy, Primary Alpha Sarcoglycanopathies Alpha Sarcoglycanopathy Alpha-Sarcoglycanopathy Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2 Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 LGMD2D Limb Girdle Muscular Dystrophy, Type 2D Limb-Girdle Muscular Dystrophy, Type 2D Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2D Primary Adhalinopathies Primary Adhalinopathy |
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