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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:adenosine deaminase deficiency
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Accession:DOID:5810 term browser browse the term
Definition: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
 primary_id: MESH:C531816
 alt_id: OMIM:102700
 xref: GARD:5748;   ICD10CM:D81.30;   NCI:C3962
For additional species annotation, visit the Alliance of Genome Resources.



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adenosine deaminase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO 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 OMIM
ClinVar
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 More... NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Nutritional and Metabolic Diseases 6747
      disease of metabolism 6747
        inherited metabolic disorder 4659
          purine-pyrimidine metabolic disorder 68
            adenosine deaminase deficiency 4
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Immune & Inflammatory Diseases 5154
        immune system disease 4479
          lymphatic system disease 1478
            lymphoproliferative syndrome 889
              agammaglobulinemia 234
                adenosine deaminase deficiency 4
paths to the root