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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | aspartylglucosaminuria | |
| Synonyms |
Aga deficiency AGU Glycoasparaginase Aspartylglucosamidase (AGA) deficiency aspartylglycosaminuria aspartylglucosaminuria glycosylasparaginase deficiency aspartylglucosaminidase deficiency |
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| Definitions |
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008830 |
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| altLabel |
Aga deficiency AGU Glycoasparaginase Aspartylglucosamidase (AGA) deficiency aspartylglycosaminuria aspartylglucosaminuria glycosylasparaginase deficiency aspartylglucosaminidase deficiency
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|
| definition |
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
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| has_exact_synonym |
aspartylglycosaminuria aspartylglucosaminuria glycosylasparaginase deficiency aspartylglucosaminidase deficiency
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| has_related_synonym |
Aga deficiency AGU Glycoasparaginase Aspartylglucosamidase (AGA) deficiency
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| IAO_0000233 | ||
| label |
aspartylglucosaminuria
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| prefixIRI |
MONDO:0008830
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| prefLabel |
aspartylglucosaminuria
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| textual definition |
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
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| subClassOf |
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