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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: EFO:0009147;   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 Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:9245985 PMID:10187774 PMID:12114496 PMID:14684682 PMID:15880681 More... NCBI chrNW_004936512:9,364,551...9,379,131
Ensembl chrNW_004936512:9,364,149...9,379,431
JBrowse link
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
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
OMIM
ClinVar
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chrNW_004936530:2,217,713...2,224,070 JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chrNW_004936542:3,405,084...3,412,104 JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:14722525 PMID:16199547 PMID:18060736 PMID:19776401 PMID:24033266 More... NCBI chrNW_004936503:4,362,573...4,575,307
Ensembl chrNW_004936503:4,363,926...4,574,932
JBrowse link
G Jak3 Janus kinase 3 ISO 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: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chrNW_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048
JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129
JBrowse link
G Rag1 recombination activating 1 ISO 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
ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10891452 PMID:11121059 More... NCBI chrNW_004936533:1,817,135...1,827,393
Ensembl chrNW_004936533:1,817,135...1,827,393
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6774
      disease of metabolism 6774
        inherited metabolic disorder 5208
          purine-pyrimidine metabolic disorder 189
            adenosine deaminase deficiency 7
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      Immune & Inflammatory Diseases 4714
        immune system disease 4102
          lymphatic system disease 1511
            lymphoproliferative syndrome 939
              agammaglobulinemia 282
                adenosine deaminase deficiency 7
paths to the root