Aspartylglucosaminuria
Disease ID: disease_node_11987
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| Dbxref | GARD:5854, ICD10CM:E77.1, MESH:D054880, MIM:208400, NCI:C61273, SNOMEDCT_US_2023_03_01:54954004, UMLS_CUI:C0268225 |
|---|---|
| Subclassof | DOID_3211 |
| Data Source | DOID, MESH |
| Synonyms | aspartylglucosaminidase deficiency, aspartylglycosaminuria, glycosylasparaginase deficiency |
| Mesh Id | D054880 |
| Mesh Label | Aspartylglucosaminuria |
| Mesh Subclassof | D016464 |
| Doid Label | aspartylglucosaminuria |
| Doid Description | A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_11987 |
| Doid Id | DOID_0050461 |
| Disease Has Basis In | SO_0001537 |
| Label | Aspartylglucosaminuria |
- Outgoing r'ship
SUBCLASS_OFto/from Lysosomal Storage Diseases(ID:disease_node_8717) (Disease)