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
  • MedDRA:10053185 (Orphanet:365/e)
  • Orphanet:365 (OMIM:232300)
  • ICD10CM:E74.0 (Orphanet:365/ntbt)
  • GARD:0002503 (MONDO:equivalentTo)
  • UMLS:C1968741 (MONDO:equivalentTo)
  • UMLS:C0017921 (Orphanet:365/e)
  • GARD:0005714 (MONDO:equivalentTo)
  • OMIM:232300 (Orphanet:365/e)
  • DOID:2752 (MONDO:equivalentTo)
  • SCTID:274864009 (MONDO:equivalentTo)
  • NCIT:C84734 (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
  • https://omim.org/entry/232300
  • http://www.orpha.net/ORDO/Orphanet_365
  • http://linkedlifedata.com/resource/umls/id/C1968741
  • http://linkedlifedata.com/resource/umls/id/C0017921
  • http://identifiers.org/snomedct/274864009
  • http://purl.obolibrary.org/obo/NCIT_C84734
  • http://purl.obolibrary.org/obo/DOID_2752
has exact synonym
  • Pompe's disease
  • Pompe disease
  • Alpha-1,4-glucosidase acid deficiency
  • deficiency of maltase
  • GSD type 2
  • glycogen storage disease, type II
  • glycogen storage disease caused by mutation in GAA
  • GAA glycogen storage disease
  • glycogenosis type 2
  • glycogenosis type II
  • GSD type II
  • glycogen storage disease type II
  • glycogen storage disease type 2
  • lysosomal alpha-1,4-glucosidase deficiency
  • generalized glycogenosis
  • glycogenosis due to acid maltase deficiency
  • acid maltase deficiency
  • glycogenosis, type 2
  • deficiency of glucoamylase
  • glycogen storage disease II
  • GSD due to acid maltase deficiency
has related synonym
  • deficiency of alpha-glucosidase
  • glycogen storage disease due to acid maltase deficiency
  • Cardiomegalia Glycogenica diffusa
  • GSD 2
  • glucosidase acid-1,4-alpha deficiency
  • glycogenosis, generalized, Cardiac form
  • GSD II
  • glycogen storage disease 2
  • GAA deficiency
  • acid maltase deficiency disease
  • Aglucosidase alfa
  • Alpha-1,4-glucosidase deficiency
  • GSD2
  • deficiency of lysosomal alpha-glucosidase
id
  • MONDO:0009290