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DO Term Detail DO ID: DOID:2752

Disease Ontology Information
DO ID	DOID:2752
Alter ID
Name	glycogen storage disease II
Name Space
Definition	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. [url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II]
Comment	OMIM mapping confirmed by DO. [SN].
Created By
Creation Date
IS A	DOID:2747
IS OBSOLETE
IS TRANSITIVE
Synonym	Generalized glycogenosis (disorder) EXACT [SNOMEDCT_2005_07_31:267424007] Glycogen storage disease, type II (disorder) EXACT [SNOMEDCT_2005_07_31:274864009] Glycogenosis, type 2 EXACT [SNOMEDCT_2005_07_31:190741002] Lysosomal alpha-1,4-glucosidase deficiency (disorder) EXACT [SNOMEDCT_2005_07_31:237967002] Pompe's disease EXACT [SNOMEDCT_2005_07_31:237968007] acid maltase deficiency EXACT [CSP2005:1849-3836] deficiency of glucoamylase EXACT [SNOMEDCT_2005_07_31:124454007] deficiency of maltase EXACT [SNOMEDCT_2005_07_31:124462004] glycogen storage disease type II EXACT []
Subset
Relationship
Xref	ICD10CM:E74.02 MSH:D006009 NCI:C84734 OMIM: 232300 SNOMEDCT_US_2016_03_01:124454007 SNOMEDCT_US_2016_03_01:124462004 SNOMEDCT_US_2016_03_01:190741002 SNOMEDCT_US_2016_03_01:237967002 SNOMEDCT_US_2016_03_01:237968007 SNOMEDCT_US_2016_03_01:267424007 SNOMEDCT_US_2016_03_01:76219003 UMLS_CUI:C0017921
Associated with this Disease Ontology and this descendants	Organism Species Resources Count Strain / DNA Human and animal cells 3 / 0 Yeast 3 / 3

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