FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term glycogen storage disease VI ID (Ontology) DOID:2754 (Human Disease)
Definition 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.
Also Known As "Glycogen storage disease 6" ; "glycogen storage disease type VI" ; "hepatic glycogen phosphorylase deficiency" (for all, see Synonyms field below)
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 Genes
 glycogen storage disease VI       1
 for disease ribbon | glycogen storage disease VI       1
 model of | glycogen storage disease VI       1
Spanning Tree (Parents/Children)
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glycogen metabolism disorder
 |__glycogen storage disease_____
autosomal genetic disease        |
 |__autosomal recessive disease__|
                                 glycogen storage disease VI  1 rec.
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Is a autosomal recessive disease
glycogen storage disease
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Synonyms
  • "Glycogen storage disease 6" EXACT
    "glycogen storage disease type VI" EXACT
    "hepatic glycogen phosphorylase deficiency" EXACT
    "hepatophosphorylase deficiency glycogenosis" EXACT
    "Hers' disease" EXACT
Secondary IDs
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ICD10CM:E74.09
MESH:D006013
MIM:232700
NCI:C126875
ORDO:369
SNOMEDCT_US_2023_03_01:29291001
UMLS_CUI:C0017925