| Metadata | |
|---|---|
| ID | DOID:0050461 |
| Name | aspartylglucosaminuria |
| 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. https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria |
| Xrefs |
SNOMEDCT_US_2023_03_01:54954004 |
| SKOS |
exactMatch MESH:D054880 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
aspartylglucosaminidase deficiency [EXACT] aspartylglycosaminuria [EXACT] glycosylasparaginase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |