WormMine: DiseaseOntology DOID:2747 glycogen storage disease Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:2978	carbohydrate metabolic disorder	An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
DOID:2747	glycogen storage disease	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.
DOID:0050728	glycogen metabolism disorder	A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.

Name	Type
glycogenoses	synonym
glycogenosis	synonym

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