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Term:
glycogen storage disease VII (DOID:11721)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Alpha-B Crystallinopathy with Cataract 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Bassoe Syndrome 
Becker muscular dystrophy +   
congenital disorder of glycosylation It  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy +   
Danon disease  
distal myopathy +   
Duchenne muscular dystrophy +   
Emery-Dreifuss muscular dystrophy +   
facioscapulohumeral muscular dystrophy +   
Glycogen Storage Disease 0, Liver  
Glycogen Storage Disease 0, Muscle  
glycogen storage disease I +   
glycogen storage disease II +   
glycogen storage disease III +   
glycogen storage disease IV +   
glycogen storage disease IX +   
glycogen storage disease V  
glycogen storage disease VI  
glycogen storage disease VII  
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.
glycogen storage disease VIII 
Glycogen Storage Disease XII  
Glycogen Storage Disease XIII  
glycogen storage disease XV  
Lactate Dehydrogenase Deficiency Type A  
lethal congenital glycogen storage disease of heart  
limb-girdle muscular dystrophy +   
Liver Glycogenosis, X-Linked, Type II 
Muscular Dystrophy, Animal +   
Muscular Dystrophy, Barnes Type 
Muscular Dystrophy, Cardiac Type 
Muscular Dystrophy, Mabry Type 
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 
Myofibrillar Myopathy, ZASP-Related  
Myopathy with Abnormal Lipid Metabolism  
MYOPATHY, SCAPULOHUMEROPERONEAL  
myotonic disease +   
oculopharyngeal muscular dystrophy +   
Oculopharyngodistal Myopathy 
Polyglucosan Body Disease, Adult Form  
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY  
POLYGLUCOSAN BODY MYOPATHY 2  
Progressive Muscular Dystrophy, Pectorodorsal 
rigid spine muscular dystrophy 1  
scapuloperoneal myopathy +   
Vacuolar Neuromyopathy 

Synonyms
Exact Synonyms: GSD VII ;   GSD7 ;   Glycogenosis 7 ;   Muscle Phosphofructokinase Deficiencies ;   Muscle Phosphofructokinase Deficiency ;   Pfkm Deficiencies ;   Pfkm Deficiency ;   Tarui Disease ;   Tarui's Disease ;   Taruis Disease ;   glycogen storage disease type VII ;   phosphofructokinase myopathy
Primary IDs: MESH:D006014 ;   RDO:0005684
Alternate IDs: OMIA:000421 ;   OMIM:232800
Xrefs: NCI:C118437
Definition Sources: MESH:D006014

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.