Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. [ Orphanet:206583 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E74.0 (Orphanet:206583)
  • Orphanet:206583 (OMIM:263570)
  • MESH:C564878 (MONDO:equivalentTo)
  • GARD:0000108 (MONDO:equivalentTo)
  • OMIM:263570 (Orphanet:206583)
  • SCTID:721099001 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

abbreviation
APBD [ Orphanet:206583 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C1849722

definition

Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

exactMatch

http://identifiers.org/mesh/C564878

http://www.orpha.net/ORDO/Orphanet_206583

http://identifiers.org/omim/263570

http://identifiers.org/snomedct/721099001

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

has related synonym

polyglucosan body neuropathy, adult form

APBN

polyglucosan body disease, adult form

polyglucosan body disease, adult

id

MONDO:0009897

seeAlso

https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult