About: glycogen storage disease I

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	glycogen storage disease nodeID://b50951138 nodeID://b50951139
label	glycogen storage disease I
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:2749
database_cross_reference	ICD10CM:E74.01 MESH:D005953 NCI:C84733 OMIM:232200 OMIM:232220 OMIM:232240 SNOMEDCT_US_2021_09_01:7265005 UMLS_CUI:C0017920
has_exact_synonym	Glycogen storage disease, type I (en) deficiency of glucose-6-phosphatase (en) glycogen storage disease type I (en) glycogenosis type I (en) von Gierke disease (en) von Gierke's disease (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50951140

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