(Q1055374)

English

adenosine deaminase deficiency

A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.

ADA

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Statements

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class of disease

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severe combined immunodeficiency

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Disease Ontology

15 May 2019

Disease Ontology ID

health specialty

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genetic association

2 references

One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity

Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.

on focus list of Wikimedia project

WikiProject Medicine

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NCI Thesaurus ID

C3962

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Disease Ontology

15 May 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_5810

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

http://identifiers.org/doid/DOID:5810

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

Identifiers

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Disease Ontology ID

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

Encyclopædia Britannica Online ID

topic/adenosine-deaminase-deficiency

subject named as

adenosine deaminase deficiency

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1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

Genetics Home Reference Conditions ID

adenosine-deaminase-deficiency

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1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

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1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

https://web.archive.org/web/20220125070108/https://docs.openalex.org/download-snapshot/snapshot-data-format

25 January 2022

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

WikiProjectMed ID

Adenosine deaminase deficiency

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Sitelinks

Wikipedia(10 entries)

arwiki عوز نازعة أمين الأدينوزين
azwiki ADA sindiromu
bswiki Nedostatak adenozin-deaminaze
dewiki Hereditärer Adenosindesaminase-Mangel
enwiki Adenosine deaminase deficiency
eswiki Inmunodeficiencia combinada grave por déficit de adenosina desaminasa
frwiki Déficit immunitaire combiné sévère par déficit en adénosine désaminase
itwiki Deficit di adenosina deaminasi
plwiki Niedobór deaminazy adenozynowej
zhwiki 腺苷脱氨酶缺乏症

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