(Q7249599)

English

prolidase deficiency

medical condition

PROLIDASE DEFICIENCY
Hyperimidodipeptiduria

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

congenital disorder of amino acid metabolism

0 references

developmental anomaly of metabolic origin

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndromic lymphedema

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic syndromic intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic skin vascular disorder

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

metabolic skin disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

inborn disorder of peptide metabolism

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

amino acid metabolic disorder

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

health specialty

medical genetics

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000124299/MONDO_0008221

based on heuristic

inferred from an Open Targets association score over 0.7

NCI Thesaurus ID

C85029

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_742

0 references

http://purl.obolibrary.org/obo/DOID_0111540

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111540

1 reference

Identifiers.org

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

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

C16.131.077.735

0 references

C16.131.831.720

0 references

C16.320.565.100.794

0 references

C16.320.850.746

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Prolidase_deficiency&oldid=892727101

GARD rare disease ID

0 references

Genetics Home Reference Conditions ID

prolidase-deficiency

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

0 references

ICD-11 ID (MMS)

5C50.F0

subject named as

Prolidase deficiency

0 references

Microsoft Academic ID

0 references

0 references

mapping relation type

2 references

imported from Wikimedia project

English Wikipedia

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

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

UniProt disease ID

0 references

WikiProjectMed ID

Prolidase deficiency

0 references

Sitelinks

Wikipedia(2 entries)

bswiki Nedostatak prolidaze
enwiki Prolidase deficiency

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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