- Concept UI
- M0009475
- Scope Note
- An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
- Terms
-
Glycogen Storage Disease Type VII
Preferred Term
Term UI
T018289
Date01/01/1999
LexicalTag
NON
ThesaurusID
NLM (1975)
-
Glycogenosis 7
Term UI
T018290
Date05/31/1988
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Deficiency, Muscle Phosphofructokinase
Term UI
T018291
Date05/31/1988
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Muscle Phosphofructokinase Deficiency
Term UI
T018292
Date05/31/1988
LexicalTag
NON
ThesaurusID
-
Tarui's Disease
Term UI
T018293
Date05/31/1988
LexicalTag
EPO
ThesaurusID
UNK (19XX)
-
Tarui Disease
Term UI
T018294
Date05/31/1988
LexicalTag
EPO
ThesaurusID
-
Pfkm Deficiency
Term UI
T811586
Date11/15/2011
LexicalTag
ABX
ThesaurusID
OMIM (2013)
-
GSD VII
Term UI
T824489
Date06/21/2012
LexicalTag
ABB
ThesaurusID
OMIM (2013)
-
Glycogen Storage Disease VII
Term UI
T824490
Date06/21/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)