Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit. [ Orphanet:34587 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:419097006 (MONDO:equivalentTo)
  • ICD10:E74.0 (Orphanet:34587)
  • MESH:D052120 (MONDO:equivalentTo)
  • OMIM:300257 (Orphanet:34587)
  • UMLS:C0878677 (Orphanet:34587)
  • DOID:0050437 (MONDO:equivalentTo)
  • ICD9:759.89 (i2s)
  • GARD:0009730 (MONDO:equivalentTo)
  • NCIT:C84735 (MONDO:equivalentTo)
  • Orphanet:34587 (OMIM:300257)
  • EFO:1001333 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

exactMatch

http://identifiers.org/snomedct/419097006

http://purl.obolibrary.org/obo/DOID_0050437

http://linkedlifedata.com/resource/umls/id/C0878677

http://purl.obolibrary.org/obo/NCIT_C84735

http://www.orpha.net/ORDO/Orphanet_34587

http://identifiers.org/mesh/D052120

http://identifiers.org/omim/300257

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0009290

has exact synonym

ANTOPOL disease

glycogen storage disease type IIb

LAMP2 lysosomal glycogen storage disease

lysosomal glycogen storage disease caused by mutation in LAMP2

lysosomal glycogen storage disease with normal acid maltase activity

GSD due to LAMP-2 deficiency

Danon disease

glycogenosis due to LAMP-2 deficiency

pseudoglycogenosis II

has related synonym

glycogen storage disease due to LAMP-2 deficiency

lysosomal glycogen storage disease without acid maltase deficiency (formerly)

glycogen storage cardiomyopathy

GSD IIb, formerly

pseudoglycogenosis 2

glycogen storage disease limited to the heart

X-linked vacuolar cardiomyopathy and myopathy

GSD IIb

lysosomal glycogen storage disease without acid maltase deficiency, formerly

vacuolar cardiomyopathy and myopathy X-linked

Antopol disease

vacuolar cardiomyopathy and myopathy, X-linked

glycogen storage disease type 2b (formerly)

lysosomal glycogen storage disease without acid maltase deficiency

GSD2B (formerly)

glycogen storage disease IIb

id

MONDO:0010281

seeAlso

https://rarediseases.info.nih.gov/diseases/9730/danon-disease