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DO Term : glycogen storage disease VI [DOID:2754] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
NCI:C126875,
232700,
Hers' disease,
glycogen storage disease type VI,
OMIM:232700,
ORDO:369,
ICD10CM:E74.09,
UMLS_CUI:C0017925,
Glycogen storage disease 6,
hepatophosphorylase deficiency glycogenosis,
MESH:D006013,
hepatic glycogen phosphorylase deficiency,
SNOMEDCT_US_2023_03_01:29291001

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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