(Q7250189)

English

properdin deficiency

human disease

Properdin Deficiency, Type 3
Properdin P Factor Deficiency
Properdin Deficiency, Type 2
PROPERDIN DEFICIENCY, X-LINKED
Complement Factor Properdin Deficiency
PROPERDIN DEFICIENCY, X-LINKED; CFPD
CFPD
Properdin Deficiency, Type 1
X-linked properdin deficiency

In more languages

Statements

0 references

class of disease

0 references

complement deficiency

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

immunodeficiency due to a complement regulatory deficiency

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

X-linked recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

2 references

Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000126759/Orphanet_2966

based on heuristic

inferred from an Open Targets association score over 0.7

279.8

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_2966

0 references

http://purl.obolibrary.org/obo/DOID_0111768

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111768

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

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

GARD rare disease ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

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

Properdin deficiency

0 references

Sitelinks

Wikipedia(3 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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