Preferred Label : Perforin Deficiency;
NCIt definition : A condition of decreased or absent presence of perforin. Deficiency of this protein
is associated with T-cell lymphoblastic lymphoma, aplastic anemia, hemophagocytic
lymphohistiocytosis familial type 2, autoimmune lymphoproliferative syndrome and other
lymphoproliferative disorders, including various forms of lymphoma.;
NCI Metathesaurus CUI : CL504865;
Origin ID : C126292;
UMLS CUI : C4288409;
Currated CISMeF NLP mapping
- Semantic type(s)
- disease_mapped_to_gene
