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glycogen storage disease due to acid maltase deficiency, late-onset

^ http://purl.obolibrary.org/obo/MONDO_0018485

Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. [ Orphanet:420429 ]

Term info

database cross reference
  • UMLS:C0342753 (MONDO:equivalentTo)
  • SCTID:722343009 (MONDO:equivalentTo)
  • UMLS:C3888925 (Orphanet:420429)
  • Orphanet:420429 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

definition

Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.

exactMatch

http://identifiers.org/snomedct/722343009, http://linkedlifedata.com/resource/umls/id/C3888925, http://purl.obolibrary.org/obo/Orphanet_420429, http://linkedlifedata.com/resource/umls/id/C0342753

has exact synonym

Pompe disease, late-onset, Alpha-1,4-glucosidase acid deficiency, late onset, Pompe disease, late onset, GSD type II, late onset, glycogen storage disease type II, late-onset, glycogenosis type 2, late onset, GSD type II, late-onset, GSD type 2, late-onset, glycogen storage disease type II, late onset, GSD type 2, late onset, Alpha-1,4-glucosidase acid deficiency, late-onset, glycogenosis type 2, late-onset, GSD due to acid maltase deficiency, late onset, GSD due to acid maltase deficiency, late-onset, glycogenosis type II, late-onset, glycogen storage disease type 2, late-onset, glycogen storage disease type 2, late onset, glycogenosis type II, late onset

id

MONDO:0018485

Term relations