National Drug File - Reference Terminology

Last uploaded: July 6, 2018
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Preferred Name

Aspartylglucosaminuria [Disease/Finding]
Synonyms

AGA Deficiency

Aspartylglucosamidase Deficiency

Aspartylglucosaminuria

Aspartylglycosaminuria

Glycoasparaginase
ID

http://purl.bioontology.org/ontology/NDFRT/N0000181095
altLabel

AGA Deficiency

Aspartylglucosamidase Deficiency

Aspartylglucosaminuria

Aspartylglycosaminuria

Glycoasparaginase
cui

C0268225
MESH DEFINITION

A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.
MESH DUI

D054880
MeSH name

Aspartylglucosaminuria
MESH UI

M0508590
NDFRT kind

DISEASE_KIND
notation

N0000181095
NUI

N0000181095
prefLabel

Aspartylglucosaminuria [Disease/Finding]
tui

T047
subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000003414
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU014368 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10068220 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54954004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10068220 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D054880 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/E77.1 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/54954004 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10068220 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/208400 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D054880 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/613228 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10068220 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54954004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/208400 OMIM CUI
http://purl.bioontology.org/ontology/MESH/D054880 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-72500 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D054880 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E77.1 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/54954004 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/613228 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU014368 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10068220 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/C31y7 RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10068220 MDRGER CUI