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Term:
adenosine deaminase deficiency (DOID:5810)
Annotations: Rat: (3) Mouse: (3) Human: (4) Chinchilla: (2) Bonobo: (3) Dog: (3) Squirrel: (2) Pig: (3)
Parent Terms Term With Siblings Child Terms
Achondroplasia and Swiss Type Agammaglobulinemia 
adenosine deaminase deficiency  
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)
Agammaglobulinemia 1, Autosomal Recessive  
Agammaglobulinemia 2, Autosomal Recessive  
Agammaglobulinemia 3, Autosomal Recessive  
agammaglobulinemia 4  
agammaglobulinemia 5  
Agammaglobulinemia 6, Autosomal Recessive  
Agammaglobulinemia 7, Autosomal Recessive  
Agammaglobulinemia 8, Autosomal Dominant  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agammaglobulinemia, non-Bruton type  
Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant 
autosomal recessive osteopetrosis 7  
CD3delta deficiency 
CD3epsilon deficiency 
CD3gamma deficiency 
CD3zeta deficiency 
CD45 deficiency 
Combined Cellular and Humoral Immune Defects with Granulomas  
common variable immunodeficiency +   
coronin-1A deficiency  
Frenkel Russe Syndrome 
Good syndrome 
HLA Class 1 Deficiency 
immunodeficiency 10  
immunodeficiency 11A  
immunodeficiency 15B  
immunodeficiency 19  
immunodeficiency 22  
immunodeficiency 24  
immunodeficiency 26  
immunodeficiency 48  
immunodeficiency 59  
immunodeficiency 9  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
interleukin-7 receptor alpha deficiency 
isolated growth hormone deficiency type III  
janus kinase-3 deficiency  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
MHC class I deficiency  
MHC class II deficiency  
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Omenn syndrome  
recombinase activating gene 1 deficiency 
recombinase activating gene 2 deficiency  
reticular dysgenesis  
Reticuloendotheliosis, X-Linked 
Say Barber Miller Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
severe combined immunodeficiency with sensitivity to ionizing radiation  
Severe Combined Immunodeficiency, Atypical 
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations  
transient hypogammaglobulinemia +  
X-linked agammaglobulinemia +   
X-Linked Hypogammaglobulinemia  
X-linked severe combined immunodeficiency  

Synonyms
Exact Synonyms: 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, 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 ADA deficiency ;   severe combined immunodeficiency due to adenosine deaminase deficiency ;   severe combined immunodeficiency, alymphocytotic type
Narrow Synonyms: 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 IDs: MESH:C531816
Alternate IDs: OMIM:102700
Xrefs: GARD:5748 ;   ICD10CM:D81.30 ;   NCI:C3962
Definition Sources: http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.