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immunodeficiency 19
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.
Uniprot Description An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype.
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.
DOID:0060016
OMIM:615617
UMLS:C3810147
MONDO:0014280
High level summary of knowledge for a disease, including descriptions and datasource references.