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)
  • GARD:0002503 (MONDO:equivalentTo)
  • SCTID:274864009 (MONDO:equivalentTo)
  • ICD10:E74.02 (DOID:2752)
  • GARD:0005714 (Orphanet-shared)
  • DOID:2752 (MONDO:equivalentTo)
  • ICD10:E74.0 (Orphanet:365)
  • NCIT:C84734 (MONDO:equivalentTo)
  • OMIM:232300 (Orphanet:365)
  • UMLS:C0017921 (Orphanet:365)
  • UMLS:C1968741 (MONDO:equivalentTo)
  • Orphanet:365 (OMIM:232300)
Subsets

gard_rare, ordo_disease, clingen

closeMatch

http://identifiers.org/snomedct/267424007

http://identifiers.org/snomedct/76219003

http://identifiers.org/snomedct/237968007

http://linkedlifedata.com/resource/umls/id/C2931347

http://identifiers.org/snomedct/237967002

http://identifiers.org/snomedct/124462004

http://identifiers.org/snomedct/190741002

http://identifiers.org/snomedct/124454007

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/mesh/D006009

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://identifiers.org/omim/232300

http://purl.obolibrary.org/obo/DOID_2752

http://identifiers.org/meddra/10053185

has exact synonym

Alpha-1,4-glucosidase acid deficiency

Pompe disease

Pompe's 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

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