| Descriptor English: | Glycogen Storage Disease Type IIb | ||||
| Descriptor Spanish: |
Enfermedad por Depósito de Glucógeno de Tipo IIb
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| Descriptor Portuguese: | Doença de Depósito de Glicogênio Tipo IIb | ||||
| Descriptor French: | Glycogénose de type IIb | ||||
| Entry term(s): |
Antopol Disease Cardiomyopathies, Glycogen Storage Cardiomyopathy, Glycogen Storage Danon Disease Disease, Antopol Glycogen Storage Cardiomyopathies Glycogen Storage Cardiomyopathy Glycogen Storage Disease IIb Glycogen Storage Disease Limited to the Heart Glycogen Storage Disease Type 2B Lysosomal Glycogen Storage Disease with Normal Acid Maltase Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency Pseudoglycogenosis 2 Pseudoglycogenosis 2s Pseudoglycogenosis II Pseudoglycogenosis IIs Vacuolar Cardiomyopathy and Myopathy, X linked Vacuolar Cardiomyopathy and Myopathy, X-linked X Linked Vacuolar Cardiomyopathy and Myopathy X-Linked Vacuolar Cardiomyopathy and Myopathy |
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| Tree number(s): |
C10.597.606.360.455.562 C14.280.238.458 C16.320.322.201 C16.320.565.202.449.510 C18.452.648.202.449.510 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D052120 | ||||
| Scope note: | An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification 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: | 2006 |
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| History Note: | 2006 |
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| DeCS ID: | 50488 | ||||
| Unique ID: | D052120 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2006/01/01 | ||||
| Date of Entry: | 2005/06/30 | ||||
| Revision Date: | 2018/06/30 |
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Glycogen Storage Disease Type IIb
- Preferred
| Concept UI |
M0483279 |
| Scope note | An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2. |
| Preferred term | Glycogen Storage Disease Type IIb |
| Entry term(s) |
Antopol Disease Cardiomyopathies, Glycogen Storage Cardiomyopathy, Glycogen Storage Danon Disease Disease, Antopol Glycogen Storage Cardiomyopathies Glycogen Storage Cardiomyopathy Glycogen Storage Disease IIb Glycogen Storage Disease Limited to the Heart Glycogen Storage Disease Type 2B Lysosomal Glycogen Storage Disease with Normal Acid Maltase Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency Pseudoglycogenosis 2 Pseudoglycogenosis 2s Pseudoglycogenosis II Pseudoglycogenosis IIs Vacuolar Cardiomyopathy and Myopathy, X linked Vacuolar Cardiomyopathy and Myopathy, X-linked X Linked Vacuolar Cardiomyopathy and Myopathy X-Linked Vacuolar Cardiomyopathy and Myopathy |
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