Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

aspartylglucosaminuria
Synonyms

aspartylglycosaminuria

aspartylglucosaminuria

glycosylasparaginase deficiency

aspartylglucosaminidase deficiency

Aga deficiency

AGU

Glycoasparaginase

Aspartylglucosamidase (AGA) deficiency
Definitions

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
ID

http://purl.obolibrary.org/obo/MONDO_0008830
has_exact_synonym

aspartylglycosaminuria

aspartylglucosaminuria

glycosylasparaginase deficiency

aspartylglucosaminidase deficiency
has_related_synonym

Aga deficiency

AGU

Glycoasparaginase

Aspartylglucosamidase (AGA) deficiency
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948
label

aspartylglucosaminuria
prefixIRI

MONDO:0008830
prefLabel

aspartylglucosaminuria
textual definition

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019251

http://purl.obolibrary.org/obo/MONDO_0800088
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http://purl.obolibrary.org/obo/MONDO_0008830 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008830 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008830 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200555 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200133 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 DOID LOOM
http://purl.obolibrary.org/obo/MP_0011516 MP LOOM
rgo:13272 GAMUTS LOOM
rgo:13272 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0050461 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 DOID LOOM
http://purl.obolibrary.org/obo/HP_0012068 HP LOOM
http://purl.obolibrary.org/obo/MP_0011516 MP LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_93 ORDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050461 NATPRO LOOM
http://identifiers.org/omim/208400 REXO LOOM
http://identifiers.org/omim/208400 GEXO LOOM
http://identifiers.org/omim/208400 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/54954004 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCTV2/C31y700 RCTV2 LOOM
http://purl.bioontology.org/ontology/OMIM/208400 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/D054880 MESH LOOM
http://id.nlm.nih.gov/mesh/D054880 MDM LOOM
http://www.gamuts.net/entity#aspartylglucosaminuria GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D6-72500 SNMI LOOM
http://www.limics.org/hrdo/rdfns#pat_id_5 HRDO LOOM
http://purl.jp/bio/4/id/200906071764804008 IOBC LOOM
http://purl.org/skeletome/bonedysplasia#Aspartylglucosaminuria BDO LOOM
http://purl.obolibrary.org/obo/OMIM_208400 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050461 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050461 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0026074 OMIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU014368 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054880 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068220 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/C31y7 RCD LOOM
http://purl.obolibrary.org/obo/HP_0012068 HP LOOM
http://purl.obolibrary.org/obo/HP_0012068 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0011516 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0011516 CHIRO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15068 DERMLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268225 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.100 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085274 PMAPP-PMO LOOM