About: glycogen storage disease VI

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

Xref MGI.

Attributes	Values
type	Class
subClassOf	glycogen storage disease
label	glycogen storage disease VI
comment	Xref MGI.
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:2754
database_cross_reference	ICD10CM:E74.09 MESH:D006013 NCI:C126875 OMIM:232700 ORDO:369 SNOMEDCT_US_2021_09_01:29291001 UMLS_CUI:C0017925
has_exact_synonym	Hers' disease (en) glycogen storage disease type VI (en) hepatic glycogen phosphorylase deficiency (en) hepatophosphorylase deficiency glycogenosis (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50951147

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