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DO Term : adenosine deaminase deficiency [DOID:5810] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
UMLS_CUI:C0268124,
ICD10CM:D81.30,
ADA,
OMIM:102700,
SNOMEDCT_US_2023_03_01:190999009,
GARD:5748,
102700,
NCI:C3962

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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