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DOID DOID:2749
Name glycogen storage disease I
Definition 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.
http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I, http://en.wikipedia.org/wiki/Von_Gierke%27s_disease, http://www.ncbi.nlm.nih.gov/books/NBK1312/
Xrefs

CSP2005:1849-3779

ICD10CM:E74.01

MESH:D005953

MTHICD9_2006:271.0

NCI:C84733

OMIM:232200

OMIM:232220

OMIM:232240

SNOMEDCT_US_2018_03_01:7265005

UMLS_CUI:C0017920

Subsets

NCIthesaurus

Synonyms

deficiency of glucose-6-phosphatase [EXACT]

glycogen storage disease type I [EXACT]

Glycogen storage disease, type I [EXACT]

glycogenosis type I [EXACT]

von Gierke disease [EXACT]

von Gierke's disease [EXACT]

Relationships

is_a glycogen storage disease

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