JSON

aspartylglucosaminuria

Go to external page http://purl.obolibrary.org/obo/MONDO_0008830

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). [ Orphanet:93 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:208400 (Orphanet:93)
  • MESH:D054880 (Orphanet:93)
  • NCIT:C61273 (MONDO:equivalentTo)
  • ICD10:E77.1 (Orphanet:93)
  • Orphanet:93 (OMIM:208400)
  • GARD:0005854 (Orphanet-shared)
  • UMLS:C0268225 (Orphanet:93)
  • MedDRA:10068220 (Orphanet:93)
  • DOID:0050461 (MONDO:equivalentTo)
  • SCTID:54954004 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

exactMatch

http://purl.obolibrary.org/obo/NCIT_C61273

http://linkedlifedata.com/resource/umls/id/C0268225

http://identifiers.org/snomedct/54954004

http://identifiers.org/omim/208400

http://identifiers.org/mesh/D054880

http://www.orpha.net/ORDO/Orphanet_93

http://identifiers.org/mesh/C538402

http://linkedlifedata.com/resource/umls/id/C2931840

http://identifiers.org/meddra/10068220

http://purl.obolibrary.org/obo/DOID_0050461

has exact synonym

aspartylglucosaminuria

aspartylglucosaminidase deficiency

glycosylasparaginase deficiency

aspartylglycosaminuria

has related synonym

Aga deficiency

Glycoasparaginase

Aspartylglucosamidase (AGA) deficiency

AGU

id

MONDO:0008830