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loading...| Preferred Name |
Aspartylglucosaminuria [Disease/Finding] |
|
| Synonyms |
AGA Deficiency |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181095 |
|
| altLabel |
AGA Deficiency Aspartylglucosamidase Deficiency Aspartylglucosaminuria Aspartylglycosaminuria Glycoasparaginase |
|
| cui |
C0268225 |
|
| MESH DEFINITION |
A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES. |
|
| MESH DUI |
D054880 |
|
| MeSH name |
Aspartylglucosaminuria |
|
| MESH UI |
M0508590 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000181095 |
|
| NUI |
N0000181095 |
|
| prefLabel |
Aspartylglucosaminuria [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |
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