Medical Subject Headings / 医学主题词表

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Preferred Name

Aspartylglucosaminuria
Synonyms

Aspartylglycosaminuria
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

Aspartylglycosaminuria

Aspartylglucosamidase Deficiencies

AGA Deficiencies

Deficiencies, Glycoasparaginase

AGA Deficiency

Aspartylglucosamidase Deficiency

Deficiencies, Aspartylglucosamidase

Deficiencies, AGA

Glycoasparaginase Deficiency

Deficiency, AGA

Aspartylglycosaminurias

Deficiency, Aspartylglucosamidase

Deficiency, Glycoasparaginase

Glycoasparaginase Deficiencies

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/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Machine permutation

2009
Mapped from

http://purl.bioontology.org/ontology/MESH/C538402
MDA

20080708
MMR

20180614
MN

C18.452.648.595.100

C16.320.565.595.100
notation

D054880
prefLabel

Aspartylglucosaminuria
TERMUI

T710290

T840926

T695228

T000942663

T843519
TH

NLM (2008)

NLM (2009)

ORD (2010)

OMIM (2013)

NLM (2019)

GHR (2014)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D016464
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http://purl.bioontology.org/ontology/ICD10CM/E77.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://www.orpha.net/ORDO/Orphanet_93 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/613228 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.obolibrary.org/obo/DOID_0050461 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050461 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/208400 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/208400 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/HP_0012068 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU014368 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/MTHU014368 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM