CD3gamma deficiency (Q18553596)

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Human disease

• IMMUNODEFICIENCY 17
• immunodeficiency 17
• SCID-Like Immunodeficiency, T Cell-Partial, B Cell-Positive, Nk Cell-Positive
• CD3 deficiency
• IMD17
• Cd3-Gamma Deficiency
• IMMUNODEFICIENCY 17; IMD17
• Immunodeficiency type 17

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Language	Label	Description	Also known as
English	CD3gamma deficiency	Human disease	IMMUNODEFICIENCY 17 immunodeficiency 17 SCID-Like Immunodeficiency, T Cell-Partial, B Cell-Positive, Nk Cell-Positive CD3 deficiency IMD17 Cd3-Gamma Deficiency IMMUNODEFICIENCY 17; IMD17 Immunodeficiency type 17

Statements

instance of

rare disease

0 references

class of disease

0 references

subclass of

severe combined immunodeficiency

1 reference

stated in

Disease Ontology

retrieved

29 November 2020

Disease Ontology ID

DOID:0060018

non-severe combined immunodeficiency

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014276

autosomal recessive disease

2 references

stated in

Disease Ontology

retrieved

29 November 2020

Disease Ontology ID

DOID:0060018

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111973

T cell deficiency

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111973

genetic association

CD3G

4 references

stated in

UniProt

UniProt protein ID

P09693

retrieved

13 August 2019

stated in

Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor

stated in

ClinGen

retrieved

31 January 2022

reference URL

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ea83aa7-473b-4670-88dd-36b1abe277f8-2021-07-15T160000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000160654/MONDO_0014276

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060018

1 reference

stated in

Disease Ontology

retrieved

29 November 2020

Disease Ontology ID

DOID:0060018

http://identifiers.org/doid/DOID:0060018

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_169082

0 references

http://purl.obolibrary.org/obo/DOID_0111973

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111973

http://identifiers.org/doid/DOID:0111973

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

Disease Ontology ID

DOID:0060018

1 reference

stated in

Disease Ontology

retrieved

29 November 2020

Disease Ontology ID

DOID:0060018

DOID:0111973

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111973

GARD rare disease ID

9521

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014276

ICD-10-CM

D81.2

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014276

Mondo ID

MONDO_0014276

0 references

OMIM ID

615607

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014276

Orphanet ID

169082

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014276

UMLS CUI

C2025557

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014276

C3810107

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014276

UniProt disease ID

DI-04033

0 references

 

Sitelinks

Wikipedia(0 entries)

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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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