Id http://purl.bioontology.org/ontology/CSP/1849-3779
http://purl.bioontology.org/ontology/CSP/1849-3779
Preferred Name

glycogen storage disease type I
Definitions
autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production; accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly; increased concentrations of lactic acid and hyperlipidemia appear in the plasma; clinical gout often appears in early childhood.
Synonyms
hepatorenal glycogen storage disease
von Gierke's disease
hepatorenal glycogenosis
glycogenosis type I
glucose 6 phosphatase deficiency
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production; accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly; increased concentrations of lactic acid and hyperlipidemia appear in the plasma; clinical gout often appears in early childhood.
altLabel
hepatorenal glycogen storage disease
von Gierke's disease
hepatorenal glycogenosis
glycogenosis type I
glucose 6 phosphatase deficiency
prefLabel
glycogen storage disease type I
type
tui
T047
notation
1849-3779
Semantic type UMLS property
DID
1849-3779
cui
C0017920
Inverse of RB
subClassOf
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