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severe combined immunodeficiency due to DNA-PKcs deficiency
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
Uniprot Description A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions.
Mondo Term and Equivalent IDs
MONDO:0014423: severe combined immunodeficiency due to DNA-PKcs deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615966
Orphanet:317425
SCTID:716871006
UMLS:C4014833
MONDO:0014423
High level summary of knowledge for a disease, including descriptions and datasource references.