loading...| Preferred Name |
aspartylglucosaminuria |
|
| Synonyms |
Aspartylglycosaminuria aspartylglucosaminidase deficiency aspartylglucosaminuria aspartylglycosaminuria glycosylasparaginase deficiency Aga deficiency Glycoasparaginase Aspartylglucosamidase (AGA) deficiency AGU |
|
| Definitions |
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008830 |
|
| closeMatch | ||
| database_cross_reference |
UMLS:C0268225 MedDRA:10068220 NANDO:2200555 OMIM:208400 SCTID:54954004 NANDO:1200133 Orphanet:93 NCIT:C61273 DOID:0050461 MESH:D054880 GARD:5854 NORD:813 |
|
| definition |
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_93 http://linkedlifedata.com/resource/umls/id/C0268225 http://identifiers.org/snomedct/54954004 http://purl.obolibrary.org/obo/NCIT_C61273 http://identifiers.org/mesh/D054880 |
|
| has_exact_synonym |
Aspartylglycosaminuria aspartylglucosaminidase deficiency aspartylglucosaminuria aspartylglycosaminuria glycosylasparaginase deficiency |
|
| has_related_synonym |
Aga deficiency Glycoasparaginase Aspartylglucosamidase (AGA) deficiency AGU |
|
| IAO_0000233 | ||
| id |
MONDO:0008830 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
aspartylglucosaminuria |
|
| notation |
MONDO:0008830 |
|
| prefLabel |
aspartylglucosaminuria |
|
| subClassOf |