- 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.
- Terms
-
Glycogen Storage Disease Type IIb
Preferred Term
Term UI
T636551
Date04/13/2005
LexicalTag
NON
ThesaurusID
-
Danon Disease
Term UI
T636552
Date04/13/2005
LexicalTag
EPO
ThesaurusID
-
Vacuolar Cardiomyopathy and Myopathy, X-linked
Term UI
T636553
Date04/13/2005
LexicalTag
NON
ThesaurusID
-
Glycogen Storage Disease IIb
Term UI
T636554
Date04/13/2005
LexicalTag
NON
ThesaurusID
-
X-Linked Vacuolar Cardiomyopathy and Myopathy
Term UI
T636555
Date04/13/2005
LexicalTag
NON
ThesaurusID
-
Pseudoglycogenosis 2
Term UI
T740450
Date02/24/2009
LexicalTag
NON
ThesaurusID
-
Glycogen Storage Cardiomyopathy
Term UI
T750966
Date05/12/2009
LexicalTag
NON
ThesaurusID
-
Glycogen Storage Disease Type 2B
Term UI
T753147
Date06/22/2009
LexicalTag
NON
ThesaurusID
-
Antopol Disease
Term UI
T781447
Date12/01/2010
LexicalTag
EPO
ThesaurusID
-
Lysosomal Glycogen Storage Disease with Normal Acid Maltase
Term UI
T841247
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Glycogen Storage Disease Limited to the Heart
Term UI
T781448
Date12/01/2010
LexicalTag
NON
ThesaurusID
-
Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency
Term UI
T781449
Date12/01/2010
LexicalTag
NON
ThesaurusID
-
Pseudoglycogenosis II
Term UI
T824567
Date06/22/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)