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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Achondroplasia and Swiss Type Agammaglobulinemia 
adenine phosphoribosyltransferase deficiency  
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)
Adenosine Monophosphate Deaminase Deficiency +   
adenylosuccinase lyase deficiency  
agammaglobulinemia 1  
agammaglobulinemia 10  
agammaglobulinemia 2  
agammaglobulinemia 3  
agammaglobulinemia 4  
agammaglobulinemia 5  
agammaglobulinemia 6  
agammaglobulinemia 7  
Agammaglobulinemia 8 +   
agammaglobulinemia 9  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agammaglobulinemia, non-Bruton type 
Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant 
autosomal recessive osteopetrosis 7  
Beta-Ureidopropionase Deficiency  
CD3delta deficiency 
CD3epsilon deficiency  
CD3gamma deficiency 
CD3zeta deficiency 
CD45 deficiency 
common variable immunodeficiency +   
coronin-1A deficiency  
dihydropyrimidine dehydrogenase deficiency +   
Frenkel Russe Syndrome 
Good syndrome 
gout +   
HLA Class 1 Deficiency 
immunodeficiency 10  
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA  
immunodeficiency 11A  
immunodeficiency 15B  
immunodeficiency 19  
immunodeficiency 22  
immunodeficiency 24  
immunodeficiency 26  
immunodeficiency 48  
immunodeficiency 59  
immunodeficiency 9  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
interleukin-7 receptor alpha deficiency 
isolated growth hormone deficiency type III  
janus kinase-3 deficiency 
Lesch-Nyhan syndrome +   
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
MHC class I deficiency  
MHC class II deficiency  
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Omenn syndrome  
orotic aciduria  
Orotic Aciduria II 
Phosphoribosylpyrophosphate Synthetase Deficiency 
phosphoribosylpyrophosphate synthetase superactivity  
Pseudouridinuria and Mental Defect 
purine nucleoside phosphorylase deficiency  
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  
thiopurine S-methyltransferase deficiency +   
transient hypogammaglobulinemia +  
X-linked agammaglobulinemia +   
X-Linked Hypogammaglobulinemia  
X-linked severe combined immunodeficiency  
xanthinuria +   

Synonyms
Exact Synonyms: 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 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: EFO:0009147 ;   GARD:5748 ;   ICD10CM:D81.30 ;   NCI:C3962
Definition Sources: http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/2166947/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/2783588/ "DO" "DO"

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