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
  • ICD10CM:E74.0 (Orphanet:206583/ntbt)
  • GARD:0000108 (MONDO:equivalentTo)
  • MESH:C564878 (MONDO:equivalentTo)
  • Orphanet:206583 (OMIM:263570)
  • SCTID:721099001 (MONDO:equivalentTo)
  • OMIM:263570 (Orphanet:206583/e)
Subsets

gard_rare, ordo_clinical_subtype

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://identifiers.org/snomedct/721099001
  • http://www.orpha.net/ORDO/Orphanet_206583
  • https://omim.org/entry/263570
excluded from qc check
  • http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
has related synonym
  • APBN
  • polyglucosan body disease, adult form
  • polyglucosan body neuropathy, adult form
  • polyglucosan body disease, adult
id
  • MONDO:0009897
seeAlso
  • https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult