Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Jump to:
Preferred Name

ASPARTYLGLUCOSAMINURIA
Synonyms

GLYCOASPARAGINASE

ASPARTYLGLUCOSAMINIDASE DEFICIENCY

AGA DEFICIENCY

ASPARTYLGLYCOSAMINURIA

GLYCOSYLASPARAGINASE DEFICIENCY

AGU
ID

http://purl.bioontology.org/ontology/OMIM/208400
altLabel

GLYCOASPARAGINASE

ASPARTYLGLUCOSAMINIDASE DEFICIENCY

AGA DEFICIENCY

ASPARTYLGLYCOSAMINURIA

GLYCOSYLASPARAGINASE DEFICIENCY

AGU
cui

C0268225

C2931840
Gene Locus

4q32-q33
Gene Symbol

AGA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001048

http://purl.bioontology.org/ontology/OMIM/MTHU001686

http://purl.bioontology.org/ontology/OMIM/MTHU007956

http://purl.bioontology.org/ontology/OMIM/MTHU014364

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU008142

http://purl.bioontology.org/ontology/OMIM/MTHU000068

http://purl.bioontology.org/ontology/OMIM/MTHU014362

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU002014

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU002002

http://purl.bioontology.org/ontology/OMIM/MTHU014365

http://purl.bioontology.org/ontology/OMIM/MTHU014370

http://purl.bioontology.org/ontology/OMIM/MTHU004747

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU014363

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU005751

http://purl.bioontology.org/ontology/OMIM/MTHU010294

http://purl.bioontology.org/ontology/OMIM/MTHU001349

http://purl.bioontology.org/ontology/OMIM/MTHU036367

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU011227

http://purl.bioontology.org/ontology/OMIM/MTHU036588

http://purl.bioontology.org/ontology/OMIM/MTHU014367

http://purl.bioontology.org/ontology/OMIM/MTHU009825

http://purl.bioontology.org/ontology/OMIM/MTHU014366

http://purl.bioontology.org/ontology/OMIM/MTHU000268

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU014361

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU001062

http://purl.bioontology.org/ontology/OMIM/MTHU014368

http://purl.bioontology.org/ontology/OMIM/MTHU003860

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU014369

http://purl.bioontology.org/ontology/OMIM/MTHU036937

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU036364

http://purl.bioontology.org/ontology/OMIM/MTHU001853
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

208400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ASPARTYLGLUCOSAMINURIA
Scope Statement

98% of Finnish cases due to one mutation [MISCELLANEOUS]

Onset of symptoms 2-6 years of age [MISCELLANEOUS]

Increased frequency in the Finnish population [MISCELLANEOUS]

Caused by mutation in the aspartylglucosaminidase gene (AGA, 613228.0001) [MOLECULAR BASIS]

Carrier frequency in Finland 1/40 [MISCELLANEOUS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRFRE/10068220 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/C538402 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54954004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181095 NDFRT 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/MEDDRA/10068220 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/C31y7 RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10068220 MDRGER CUI
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/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://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 CCONT 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