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glycogen storage disease II

^ 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 ]

Term info

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

gard_rare, ordo_disease, clingen

abbreviation
GSD2 [ OMIM:232300 MONDO:Lexical ]

closeMatch

http://identifiers.org/meddra/10053185

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://linkedlifedata.com/resource/umls/id/C1968741, http://linkedlifedata.com/resource/umls/id/C0017921, http://purl.obolibrary.org/obo/NCIT_C84734, http://identifiers.org/snomedct/274864009, http://purl.obolibrary.org/obo/Orphanet_365, http://purl.obolibrary.org/obo/DOID_2752

has exact synonym

Alpha-1,4-glucosidase acid deficiency, Pompe's disease, Pompe disease, 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, GAA deficiency, glycogen storage disease 2, acid maltase deficiency disease, Aglucosidase alfa, Alpha-1,4-glucosidase deficiency, GSD2, deficiency of lysosomal alpha-glucosidase

id

MONDO:0009290