immunodeficiency 26 (Q48989430)

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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

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Language	Label	Description	Also known as
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

Statements

instance of

rare disease

0 references

class of disease

0 references

subclass of

T-B- severe combined immunodeficiency

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014423

severe combined immunodeficiency

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111961

autosomal recessive disease

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111961

genetic association

PRKDC

3 references

stated in

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

stated in

ClinGen

retrieved

7 February 2022

reference URL

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

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

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

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

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

0 references

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

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111961

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

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

Disease Ontology ID

DOID:0111961

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111961

Google Knowledge Graph ID

/g/11hbbp_c44

0 references

ICD-10-CM

D81.1

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014423

Mondo ID

MONDO_0014423

0 references

OMIM ID

615966

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014423

Orphanet ID

317425

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014423

UMLS CUI

C4014833

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014423

C4274221

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

16 June 2023

UniProt disease ID

DI-04200

0 references

 

Sitelinks

Wikipedia(1 entry)

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• enwiki Immunodeficiency 26

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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