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Mondo Disease Ontology
Preferred Name | aspartylglucosaminuria | |
Synonyms |
Aga deficiency AGU Glycoasparaginase Aspartylglucosamidase (AGA) deficiency aspartylglycosaminuria aspartylglucosaminuria Aspartylglycosaminuria 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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curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008830 |
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database_cross_reference |
OMIM:208400 SCTID:54954004 icd11.foundation:2143470200 GARD:5854 NCIT:C61273 Orphanet:93 UMLS:C0268225 MEDGEN:78649 NANDO:2200555 MedDRA:10068220 NANDO:1200133 MESH:D054880 NORD:813 DOID:0050461
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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 Aspartylglycosaminuria glycosylasparaginase deficiency aspartylglucosaminidase deficiency
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has_related_synonym |
Aga deficiency AGU Glycoasparaginase Aspartylglucosamidase (AGA) deficiency
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IAO_0000233 | ||
id |
MONDO:0008830
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
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label |
aspartylglucosaminuria
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notation |
MONDO:0008830
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prefLabel |
aspartylglucosaminuria
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skos_closeMatch | ||
skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_93 http://identifiers.org/medgen/78649 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2143470200 http://linkedlifedata.com/resource/umls/id/C0268225 http://identifiers.org/snomedct/54954004 http://purl.obolibrary.org/obo/NCIT_C61273 http://identifiers.org/mesh/D054880 |
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subClassOf |
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