WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:2752 glycogen storage disease II Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
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1 Ontology

Name
Disease Ontology

11 Parents

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:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
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.
DOID:2752 glycogen storage disease II A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.

10 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:2747 DOID:2752
is_a DOID:0050737 DOID:2752
is_a DOID:2978 DOID:2752
is_a DOID:0050739 DOID:2752
is_a DOID:0050728 DOID:2752
is_a DOID:630 DOID:2752
is_a DOID:0014667 DOID:2752
is_a DOID:4 DOID:2752
is_a DOID:655 DOID:2752
is_a DOID:0050177 DOID:2752

10 Synonyms

Name Type
deficiency of glucoamylase synonym
deficiency of maltase synonym
Generalized glycogenosis synonym
Glycogen storage disease 2 synonym
glycogen storage disease type II synonym
Glycogen storage disease, type II synonym
Glycogenosis, type 2 synonym
Lysosomal alpha-1,4-glucosidase deficiency synonym
Pompe's disease synonym
acid maltase deficiency synonym