(Q48989430)

English

immunodeficiency 26

medical condition

IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26
IMD26
severe combined immunodeficiency due to DNA-PKcs deficiency
SCID due to DNA-PKcs deficiency
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

In more languages

Statements

0 references

class of disease

0 references

T-B- severe combined immunodeficiency

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

severe combined immunodeficiency

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

3 references

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

7 February 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fff25ca1-bbe5-47d3-b672-4b675a9fa6f7-2022-02-01T151658.605Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000253729/MONDO_0014423

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_317425

0 references

http://purl.obolibrary.org/obo/DOID_0111961

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111961

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

Google Knowledge Graph ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

Wikipedia(1 entry)

enwiki Immunodeficiency 26

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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