An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

Synonyms:

Aspartylglucosaminidase deficiency

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93
hasDbXref
  • MeSH:D054880
  • UMLS:C2931840
  • OMIM:208400
  • UMLS:C0268225
  • MedDRA:10068220
  • ICD-10:E77.1
  • MeSH:C538402
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409946
has birth prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409976
  • http://www.orpha.net/ORDO/Orphanet_409977
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
notation
  • ORPHA:93
part of
  • http://www.orpha.net/ORDO/Orphanet_225681
  • http://www.orpha.net/ORDO/Orphanet_93448
  • http://www.orpha.net/ORDO/Orphanet_611314
  • http://www.orpha.net/ORDO/Orphanet_79215
  • http://www.orpha.net/ORDO/Orphanet_68385
present in
  • http://www.orpha.net/ORDO/Orphanet_410204
  • http://www.orpha.net/ORDO/Orphanet_409991
  • http://www.orpha.net/ORDO/Orphanet_410006
  • http://www.orpha.net/ORDO/Orphanet_410065

Term relations