Search Ontology:
Human Disease
aspartylglucosaminuria
- Term ID
- DOID:0050461
- Synonyms
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- aspartylglucosaminidase deficiency
- aspartylglycosaminuria
- glycosylasparaginase deficiency
- 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
- References
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- GARD:5854
- ICD10CM:E77.1
- MESH:D054880
- Ontology
- Human Disease ( DOID:0050461 )
- is a type of
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