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ONTOLOGY REPORT - ANNOTATIONS


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;   Adenosine deaminase-deficient severe combined immunodeficiency disease;   Agammaglobulinemia, Swiss type;   Bubble boy disease;   Delayed-Late-Onset Adenosine Deaminase Deficiency;   SCID Due to ADA Deficiency;   SCID Due to ADA Deficiency, Delayed Onset;   SCID Due to ADA Deficiency, Early-Onset;   SCID1;   SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY;   Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency;   adenosine deaminase deficient severe combined immunodeficiency;   severe combined immunodeficiency due to adenosine deaminase deficiency;   severe combined immunodeficiency, alymphocytotic type
 narrow_synonym: ADENOSINE DEAMINASE DEFICIENCY, PARTIAL;   PARTIAL ADA DEFICIENCY;   SCID DUE TO ADA DEFICIENCY, EARLY-ONSET SCID DUE TO ADA DEFICIENCY, DELAYED ONSET;   SCID DUE TO ADA DEFICIENCY, LATE-ONSET
 primary_id: MESH:C531816
 alt_id: OMIM:102700;   RDO:0000218
 xref: GARD:5748;   ICD10CM:D81.3;   NCI:C3962
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adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:7240710
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      primary immunodeficiency disease 957
        agammaglobulinemia 55
          adenosine deaminase deficiency 2
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            X-linked monogenic disease 857
              combined T cell and B cell immunodeficiency 66
                severe combined immunodeficiency 51
                  adenosine deaminase deficiency 2
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