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BioAssay Ontology
Last uploaded:
January 17, 2025
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| Preferred Name | aspartylglucosaminuria | |
| Synonyms |
aspartylglycosaminuria aspartylglucosaminidase deficiency glycosylasparaginase deficiency |
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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. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050461 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| has cross-reference |
OMIM:208400 ICD10CM:E77.1 SNOMEDCT_US_2020_03_01:54954004 UMLS_CUI:C0268225 MESH:D054880 GARD:5854 NCI:C61273
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| has exact match |
MESH:D054880
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| has exact synonym |
aspartylglycosaminuria aspartylglucosaminidase deficiency glycosylasparaginase deficiency
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| has_obo_namespace |
disease_ontology
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|
| id |
DOID:0050461
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| imported from | ||
| in_subset | ||
| label |
aspartylglucosaminuria
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|
| notation |
DOID:0050461
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|
| prefLabel |
aspartylglucosaminuria
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|
| textual 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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| subClassOf |
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