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

GSD due to LAMP-2 deficiency

lysosomal glycogen storage disease with normal acid maltase activity

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

X-linked vacuolar cardiomyopathy and myopathy

glycogen storage disease limited to the heart

GSD IIb

lysosomal glycogen storage disease without acid maltase deficiency, formerly

Antopol disease

vacuolar cardiomyopathy and myopathy X-linked

glycogen storage disease type 2b (formerly)

vacuolar cardiomyopathy and myopathy, X-linked

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