aspartylglucosaminuria (Q4412533)

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disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues

ASPARTYLGLUCOSAMINIDASE DEFICIENCY
GLYCOSYLASPARAGINASE DEFICIENCY
aspartylglycosaminuria
Glycoasparaginase
Aga Deficiency
ASPARTYLGLUCOSAMINURIA; AGU
ASPARTYLGLUCOSAMINURIA
AGU

Language	Label	Description	Also known as
English	aspartylglucosaminuria	disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues	ASPARTYLGLUCOSAMINIDASE DEFICIENCY GLYCOSYLASPARAGINASE DEFICIENCY aspartylglycosaminuria Glycoasparaginase Aga Deficiency ASPARTYLGLUCOSAMINURIA; AGU ASPARTYLGLUCOSAMINURIA AGU

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

lysosomal storage disease

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

lysosomal disease with epilepsy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare genetic epilepsy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

neurometabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

oligosaccharidosis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

lysosomal storage disease with skeletal involvement

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare genetic developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic disease

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

health specialty

medical genetics

0 references

0 references

genetic association

4 references

UniProt protein ID

13 August 2019

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease

Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000038002/MONDO_0008830

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C61273

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_0050461

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0050461

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://purl.obolibrary.org/obo/HP_0012068

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

http://www.orpha.net/ORDO/Orphanet_93

0 references

Identifiers

National Library of Israel J9U ID

987007295758405171

1 reference

National Library of Israel Names and Subjects Authority File

Library of Congress authority ID

1 reference

https://github.com/JohnMarkOckerbloom/ftl/blob/master/data/wikimap

3 April 2019

MeSH descriptor ID

mapping relation type

subject named as

Aspartylglucosaminuria

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

C16.320.565.595.100

0 references

C18.452.648.595.100

0 references

PatientsLikeMe condition ID

aspartylglucosaminuria

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

GARD rare disease ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

Genetics Home Reference Conditions ID

aspartylglucosaminuria

0 references

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

0 references

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

UniProt disease ID

0 references

WikiProjectMed ID

Aspartylglucosaminuria

0 references

subject named as

aspartyyliglukosaminuria

aspartylglukosaminuri

aspartylglucosaminuria

1 reference

YSO-Wikidata mapping project

28 January 2022

Sitelinks

Wikipedia(9 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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