Cell Culture Ontology

Last uploaded: July 23, 2014

Preferred Name	aspartylglucosaminuria
Synonyms	Aga deficiency Glycoasparaginase Aspartylglucosamidase (AGA) deficiency AGU Aspartylglycosaminuria aspartylglucosaminidase deficiency aspartylglucosaminuria aspartylglycosaminuria glycosylasparaginase 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
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0008830
database_cross_reference	UMLS:C0268225 MedDRA:10068220 NANDO:2200555 OMIM:208400 SCTID:54954004 MEDGEN:78649 NANDO:1200133 Orphanet:93 NCIT:C61273 icd11.foundation:2143470200 DOID:0050461 MESH:D054880 GARD:5854 NORD:813
definition	Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
has_exact_synonym	Aspartylglycosaminuria aspartylglucosaminidase deficiency aspartylglucosaminuria aspartylglycosaminuria glycosylasparaginase deficiency
has_related_synonym	Aga deficiency Glycoasparaginase Aspartylglucosamidase (AGA) deficiency AGU
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4948
id	MONDO:0008830
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label	aspartylglucosaminuria
notation	MONDO:0008830
preferred label	aspartylglucosaminuria
prefLabel	aspartylglucosaminuria
skos_closeMatch	http://identifiers.org/meddra/10068220
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 http://purl.obolibrary.org/obo/DOID_0050461 https://omim.org/entry/208400
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019251 http://purl.obolibrary.org/obo/MONDO_0800088

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008830	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008830	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008830	EFO	SAME_URI
http://purl.obolibrary.org/obo/MP_0011516	MP	LOOM
http://purl.obolibrary.org/obo/DOID_0050461	DOID	LOOM
http://www.orpha.net/ORDO/Orphanet_93	ORDO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050461	NATPRO	LOOM
http://nanbyodata.jp/ontology/NANDO_2200555	NANDO	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://nanbyodata.jp/ontology/NANDO_1200133	NANDO	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
rgo:13272	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	DDSS	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://purl.obolibrary.org/obo/MONDO_0008830	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008830	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0008830	EFO	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