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Term:
glycogen storage disease VI (DOID:2754)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
liver disease +     
Alcoholic Liver Diseases +   
alpha 1-antitrypsin deficiency  
alveolar echinococcosis  
Budd-Chiari syndrome +   
capillariasis 
Carnitine Palmitoyltransferase II Deficiency, Infantile  
clonorchiasis  
COACH syndrome  
congenital disorder of glycosylation It  
Cyanosis and Hepatic Disease 
cystic echinococcosis  
Danon disease  
fatty liver disease +   
Focal Nodular Hyperplasia 
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  
A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity.
glycogen storage disease VII  
glycogen storage disease VIII 
Glycogen Storage Disease XI  
Glycogen Storage Disease XII  
Glycogen Storage Disease XIII  
glycogen storage disease XV  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
GSD IV, Nonprogressive Hepatic 
Hepatic Insufficiency +   
Hepatic Porphyrias +   
hepatic tuberculosis 
hepatic vascular disease +   
hepatitis +   
Hepatomegaly +   
hepatopulmonary syndrome  
hepatorenal syndrome  
INTERSTITIAL LUNG AND LIVER DISEASE  
intrahepatic cholestasis +   
lethal congenital glycogen storage disease of heart  
Liver Abscess +   
liver carcinoma in situ 
liver cirrhosis +   
Liver Fibrocystic Disease and Polydactyly 
liver inflammatory pseudotumor 
Liver Injury +   
Liver Neoplasms +   
mitochondrial DNA depletion syndrome 6  
opisthorchiasis  
paragonimiasis 
Parasitic Liver Diseases +   
peliosis hepatis  
Phosphoenolpyruvate Carboxykinase Deficiency +   
polycystic echinococcosis 
polycystic liver disease +   
Polyglucosan Body Disease, Adult Form  
Polyglucosan Body Myopathy 1 with or without Immunodeficiency  
Polyglucosan Body Myopathy 2  
portal hypertension +   
Pseudo-TORCH Syndrome 2  
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
renal-hepatic-pancreatic dysplasia +   
Retinohepatoendocrinologic Syndrome 
toxocariasis +   
Trichohepatoneurodevelopmental Syndrome  
tyrosinemia type II  
visceral leishmaniasis  
Wilson disease +   
Zellweger syndrome +   

Synonyms
Exact Synonyms: GSD VI ;   GSD6 ;   Glycogenosis 6 ;   Glycogenosis Type VI ;   Glycogenosis VI ;   Hepatic Glycogen Phosphorylase Deficiency ;   Her Disease ;   Hers Disease ;   Liver Phosphorylase Deficiency Syndrome ;   PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER ;   glycogen storage disease type VI ;   hepatophosphorylase deficiency glycogenosis
Primary IDs: MESH:D006013 ;   RDO:0005683
Alternate IDs: OMIM:232700
Xrefs: NCI:C126875 ;   ORDO:369
Definition Sources: http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI "DO", http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract "DO", MESH:D006013

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