Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Aspartylglucosaminuria
Synonyms	Deficiencies, AGA
Definitions	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.
ID	http://purl.bioontology.org/ontology/MESH/D054880
altLabel	Deficiencies, AGA Deficiencies, Aspartylglucosamidase AGA Deficiencies Deficiency, Glycoasparaginase Aspartylglycosaminurias Deficiency, Aspartylglucosamidase Deficiency, AGA Glycoasparaginase Deficiency Deficiencies, Glycoasparaginase AGA Deficiency Aspartylglucosamidase Deficiency Glycoasparaginase Deficiencies Aspartylglucosamidase Deficiencies Aspartylglycosaminuria Aspartylglucosaminurias
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0268225
DC	1
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.
DX	20090101
HN	2009
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	2009
Mapped from	http://purl.bioontology.org/ontology/MESH/C538402
MDA	20080708
MMR	20180614
MN	C16.320.565.595.100 C18.452.648.595.100
notation	D054880
prefLabel	Aspartylglucosaminuria
TERMUI	T710290 T840926 T000942663 T843519 T695228
TH	OMIM (2013) NLM (2009) NLM (2008) NLM (2019) GHR (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D016464

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10068220	MDRGER	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/NDFRT/N0000181095	NDFRT	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.obolibrary.org/obo/MONDO_0008830	EFO	LOOM
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
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://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://purl.obolibrary.org/obo/MONDO_0008830	DOVES	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