Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). [ Orphanet:93 ]
Term information
- 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)
ordo_disease
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
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
aspartylglucosaminuria
aspartylglucosaminidase deficiency
glycosylasparaginase deficiency
aspartylglycosaminuria