Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ASPARTYLGLUCOSAMINURIA
Synonyms

ASPARTYLGLUCOSAMINIDASE DEFICIENCY
ID

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

ASPARTYLGLUCOSAMINIDASE DEFICIENCY

ASPARTYLGLYCOSAMINURIA

GLYCOSYLASPARAGINASE DEFICIENCY

AGU

GLYCOASPARAGINASE

AGA DEFICIENCY
cui

C0268225

C2931840
Gene Locus

4q32-q33
Gene Symbol

AGA
Has manifestation

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU014374

http://purl.bioontology.org/ontology/OMIM/MTHU014372

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU014373

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU058310

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU014375

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
notation

208400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ASPARTYLGLUCOSAMINURIA
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E77.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C538402 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D054880 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D054880 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0050461 Human Disease Ontology 123 LOOM