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aspartylglucosaminuria

^ 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 ]

Term info

database cross reference
  • UMLS:C0268225 (Orphanet:93/e)
  • GARD:0005854 (MONDO:equivalentTo)
  • MedDRA:10068220 (Orphanet:93/e)
  • OMIM:208400 (Orphanet:93/e)
  • SCTID:54954004 (MONDO:equivalentTo)
  • Orphanet:93 (OMIM:208400)
  • DOID:0050461 (MONDO:equivalentTo)
  • NCIT:C61273 (MONDO:equivalentTo)
  • MESH:D054880 (Orphanet:93/e)
Subsets

ordo_disease

abbreviation
AGU [ MONDO:Lexical OMIM:208400 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

closeMatch

http://identifiers.org/meddra/10068220

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://purl.obolibrary.org/obo/Orphanet_93, http://identifiers.org/snomedct/54954004, http://identifiers.org/mesh/D054880, http://purl.obolibrary.org/obo/DOID_0050461, https://omim.org/entry/208400

has exact synonym

aspartylglucosaminuria, aspartylglucosaminidase deficiency, glycosylasparaginase deficiency, aspartylglycosaminuria

has related synonym

Aga deficiency, Glycoasparaginase, Aspartylglucosamidase (AGA) deficiency, AGU

id

MONDO:0008830