glycogen storage disease

Term ID

DOID:2747

Synonyms

glycogenoses
glycogenosis

Definition

A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. (3)

References

ICD10CM:E74.0
ICD9CM:271.0
MESH:D006008
NCI:C61272
SNOMEDCT_US_2023_03_01:267498002
UMLS_CUI:C0017919

Ontology

Human Disease ( DOID:2747 )

Relationships

is a type of: glycogen metabolism disorder

glycogen metabolism disorder Show first 5 Terms
has subtype: glycogen storage disease I glycogen storage disease II glycogen storage disease III glycogen storage disease IV glycogen storage disease IX ... Show All 11 Terms

glycogen storage disease I glycogen storage disease II glycogen storage disease III glycogen storage disease IV glycogen storage disease IX glycogen storage disease V glycogen storage disease VI glycogen storage disease VII glycogen storage disease VIII glycogen storage disease XV lethal congenital glycogen storage disease of heart Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models