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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | aspartylglucosaminuria | |
| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050461 |
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| 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.
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| imported from | ||
| label |
aspartylglucosaminuria
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| prefixIRI |
DOID:0050461
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| prefLabel |
aspartylglucosaminuria
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| subClassOf |
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