Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
gptkb:ADA-SCID
|
| gptkbp:affects |
immune system
|
| gptkbp:category |
immunodeficiency
inborn error of metabolism |
| gptkbp:causedBy |
mutations in the ADA gene
|
| gptkbp:characterizedBy |
gptkb:lymphopenia
immunodeficiency recurrent infections |
| gptkbp:diagnosedBy |
genetic testing
immunological assays |
| gptkbp:firstDescribed |
1972
|
| gptkbp:fullName |
gptkb:Adenosine_Deaminase_Severe_Combined_Immunodeficiency
|
| https://www.w3.org/2000/01/rdf-schema#label |
ADA-SCID
|
| gptkbp:ICD-10_code |
D81.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
102700
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:bubble_boy_disease
|
| gptkbp:riskFactor |
life-threatening infections
|
| gptkbp:symptom |
gptkb:pneumonia
failure to thrive oral thrush chronic diarrhea |
| gptkbp:treatment |
gene therapy
enzyme replacement therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Ashanti_DeSilva
gptkb:Strimvelis |
| gptkbp:bfsLayer |
6
|