loading...| Preferred Name |
aspartylglucosaminuria |
| Synonyms |
aspartylglycosaminuria |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050461 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:54954004 NCI:C61273 OMIM:208400 GARD:5854 MESH:D054880 ICD10CM:E77.1 UMLS_CUI:C0268225 |
| definition |
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. |
| disease has basis in | |
| has exact match |
MESH:D054880 |
| has exact synonym |
aspartylglycosaminuria aspartylglucosaminidase deficiency glycosylasparaginase deficiency |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050461 |
| in_subset | |
| label |
aspartylglucosaminuria |
| notation |
DOID:0050461 |
| prefLabel |
aspartylglucosaminuria |
| subClassOf |