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glycogen storage disease II

Go to external page http://purl.obolibrary.org/obo/MONDO_0009290

Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal. [ Orphanet : 365 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:232300 (Orphanet:365/e)
  • MedDRA:10053185 (Orphanet:365/e)
  • UMLS:C1968741 (MONDO:equivalentTo)
  • Orphanet:365 (OMIM:232300)
  • NCIT:C84734 (MONDO:equivalentTo)
  • DOID:2752 (MONDO:equivalentTo)
  • GARD:0005714 (MONDO:equivalentTo)
  • SCTID:274864009 (MONDO:equivalentTo)
  • UMLS:C0017921 (Orphanet:365/e)
  • GARD:0002503 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, clingen

abbreviation
GSD2 [ MONDO : Lexical https://omim.org/entry/232300 ]
closeMatch
  • http://identifiers.org/meddra/10053185
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
  • Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.
exactMatch
  • http://identifiers.org/snomedct/274864009
  • http://purl.obolibrary.org/obo/DOID_2752
  • http://purl.obolibrary.org/obo/NCIT_C84734
  • http://linkedlifedata.com/resource/umls/id/C0017921
  • http://linkedlifedata.com/resource/umls/id/C1968741
  • https://omim.org/entry/232300
  • http://www.orpha.net/ORDO/Orphanet_365
has exact synonym
  • generalized glycogenosis
  • glycogen storage disease type II
  • glycogenosis due to acid maltase deficiency
  • lysosomal alpha-1,4-glucosidase deficiency
  • deficiency of glucoamylase
  • acid maltase deficiency
  • glycogenosis, type 2
  • GSD type 2
  • GSD type II
  • glycogenosis type II
  • Alpha-1,4-glucosidase acid deficiency
  • glycogen storage disease caused by mutation in GAA
  • Pompe's disease
  • Pompe disease
  • deficiency of maltase
  • glycogenosis type 2
  • glycogen storage disease, type II
  • GSD due to acid maltase deficiency
  • glycogen storage disease type 2
  • glycogen storage disease II
  • GAA glycogen storage disease
has related synonym
  • glycogenosis, generalized, Cardiac form
  • GSD2
  • glucosidase acid-1,4-alpha deficiency
  • GAA deficiency
  • Alpha-1,4-glucosidase deficiency
  • Cardiomegalia Glycogenica diffusa
  • deficiency of alpha-glucosidase
  • glycogen storage disease due to acid maltase deficiency
  • glycogen storage disease 2
  • deficiency of lysosomal alpha-glucosidase
  • Aglucosidase alfa
  • GSD II
  • GSD 2
  • acid maltase deficiency disease
id
  • MONDO:0009290