glycogen storage disease type iib

Preferred Label : glycogen storage disease type iib;

MeSH definition : 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.;

MeSH synonym : vacuolar cardiomyopathy and myopathy, x-linked; cardiomyopathy, glycogen storage; glycogen storage disease type 2B; glycogen storage cardiomyopathy; cardiomyopathies, glycogen storage; glycogen storage cardiomyopathies; glycogen storage disease iib; x-linked vacuolar cardiomyopathy and myopathy; danon disease; lysosomal glycogen storage disease without acid maltase deficiency; pseudoglycogenosis 2; pseudoglycogenosis 2s; antopol disease; disease, antopol; glycogen storage disease limited to the heart; pseudoglycogenosis II; pseudoglycogenosis IIs; vacuolar cardiomyopathy and myopathy, X linked; X linked vacuolar cardiomyopathy and myopathy; lysosomal glycogen storage disease with normal acid maltase;

CISMeF synonym : disease, danon; storage cardiomyopathy, glycogen;

Wikipedia link : https://en.wikipedia.org/wiki/Glycogen storage disease type iib;

Details

Origin ID

D052120;

UMLS CUI

C0878677;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Danon disease [MedDRA LLT]
- Danon disease [DO Concept]
- Danon disease [Disease (Nov.)]
- Danon disease [ICD-11 More detail]
- Danon disease [OMIM Phenotype]
- Glycogen Storage Disease Type IIb [NCIt concept]
- Glycogen storage disease due to LAMP-2 deficiency [ORDO Disease]
- Glycogen storage disease due to LAMP-2 deficiency [ICD-11 More detail]
- Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) [SNOMED CT concept]
DO Cross reference
- Danon disease [DO Concept]
Has phenotype(s) (HPO)
- Abnormality of cardiac conduction [HPO term]
- Diffuse muscle atrophy [HPO term]
- EMG shows myopathic changes [HPO term]
- Subnormal visual acuity [HPO term]
Manual NTBT mappings (CISMeF)
- Disorder of lysosomal amino acid transport [ORDO Disease]
- Glycogen storage disease with hypertrophic cardiomyopathy [ORDO Disease]
- Muscular glycogenosis [ORDO Disease]
- Syndromic neurometabolic disease with X-linked intellectual disability [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Lysosomal-Associated membrane protein 2 [MeSH Descriptor]
Record concept(s)
- glycogen storage disease type IIb [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Danon disease [OMIM Phenotype]
- Danon disease [MedDRA LLT]
- Danon disease [DO Concept]
- Danon disease [Disease (Nov.)]
- Danon disease [ICD-11 More detail]
- Glycogen Storage Disease Type IIb [NCIt concept]
- Glycogen storage disease due to LAMP-2 deficiency [ORDO Disease]
- Glycogen storage disease due to LAMP-2 deficiency [ICD-11 More detail]
- Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) [SNOMED CT concept]

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