Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
glycogen storage disease I (DOID:2749)
Annotations: Rat: (34) Mouse: (34) Human: (34) Chinchilla: (34) Bonobo: (34) Dog: (34) Squirrel: (33) Pig: (34)
Parent Terms Term With Siblings Child Terms
congenital disorder of glycosylation It  
Danon disease  
Glycogen Storage Disease 0, Liver  
Glycogen Storage Disease 0, Muscle  
glycogen storage disease I +   
A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. (DO)
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  
glycogen storage disease VIII 
Glycogen Storage Disease XI  
Glycogen Storage Disease XII  
Glycogen Storage Disease XIII  
glycogen storage disease XV  
lethal congenital glycogen storage disease of heart  
Polyglucosan Body Disease, Adult Form  
Polyglucosan Body Myopathy 1 with or without Immunodeficiency  
Polyglucosan Body Myopathy 2  

Synonyms
Exact Synonyms: Gierke disease ;   Gierke's disease ;   Gierkes disease ;   Glucose 6 Phosphatase Deficiency ;   Glucose-6-Phosphatase Deficiencies ;   Glucosephosphatase Deficiencies ;   Glucosephosphatase Deficiency ;   Glycogenosis 1 ;   deficiency of glucose-6-phosphatase ;   glycogen storage disease 1 (GSD I) ;   glycogen storage disease type I ;   glycogenosis type I ;   hepatorenal glycogen storage disease ;   von Gierke Disease ;   von Gierke's Disease ;   von Gierkes disease
Primary IDs: MESH:D005953
Xrefs: ICD10CM:E74.01 ;   NCI:C84733
Definition Sources: http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I "DO", http://en.wikipedia.org/wiki/Von_Gierke%27s_disease "DO", http://www.ncbi.nlm.nih.gov/books/NBK1312/ "DO"

paths to the root

NHLBI Logo

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