Terminology Service for NFDI4Health
glycogen storage disease VI
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http://purl.obolibrary.org/obo/DOID_2754
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. [ http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007636 ]
Term info
Label
glycogen storage disease VI
Synonyms
- Hers' disease
- glycogen storage disease type VI
- hepatic glycogen phosphorylase deficiency
- hepatophosphorylase deficiency glycogenosis
Subsets
DO_rare_slim, NCIthesaurus
comment
Xref MGI.
has obo namespace
disease_ontology
id
DOID:2754