Metadata | |
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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 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
aspartylglucosaminidase deficiency [EXACT] aspartylglycosaminuria [EXACT] glycosylasparaginase deficiency [EXACT] |
Parent Relationships |