RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
ADA; ADA deficiency; ADA-SCID; Bubble boy disease; Delayed-Late-Onset Adenosine Deaminase Deficiency; SCID Due to ADA Deficiency, Delayed Onset; SCID Due to ADA Deficiency, Early-Onset; SCID due to ADA deficiency; SCID1; adenosine deaminase deficient severe combined immunodeficiency; adenosine deaminase-deficient severe combined immunodeficiency disease; agammaglobulinemia, Swiss type; severe combined immunodeficiency due to ADA deficiency; severe combined immunodeficiency due to adenosine deaminase deficiency; severe combined immunodeficiency, alymphocytotic type; severe combined immunodeficiency, autosomal recessive, T-cell-negative, B-cell-negative, NK-cell-negative, due to adenosine deaminase deficiency
narrow_synonym:
PARTIAL ADA DEFICIENCY; SCID DUE TO ADA DEFICIENCY, EARLY-ONSET SCID DUE TO ADA DEFICIENCY, DELAYED ONSET; SCID DUE TO ADA DEFICIENCY, LATE-ONSET; partial adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency CTD Direct Evidence: marker/mechanism OMIM:102700
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
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