Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation

Preferred Label : Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation;

NCIt synonyms : ALPS with Germline CASP8 Mutation;

NCIt definition : Autoimmune lymphoproliferative syndrome characterized by the presence of germline CASP8 mutation.;

NCI Metathesaurus CUI : CL1915436;

Détails

Origin ID

C201055;

UMLS CUI

C5856603;

Disease may have findings
- Hepatomegaly [NCIt concept]
- Interleukin-10 Overexpression [NCIt concept]
- Lymphadenopathy [NCIt concept]
- Splenomegaly [NCIt concept]
- Thrombocytopenia [NCIt concept]
Has associated anatomic sites
- Immune System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_excludes_molecular_abnormality
- FAS Gene Mutation [NCIt concept]
disease_has_abnormal_cell
- Reactive Lymphocyte [NCIt concept]
disease_has_molecular_abnormality
- Germline CASP8 Gene Mutation [NCIt concept]
- Germline Variation [NCIt concept]
disease_has_normal_cell_origin
- Lymphocyte [NCIt concept]
disease_mapped_to_gene
- CASP8 Gene [NCIt concept]
disease_may_have_abnormal_cell
- Atypical Lymphocyte [NCIt concept]
disease_may_have_associated_disease
- Anemia [NCIt concept]
- Autoimmune Disease [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome-Related Lymphoma [NCIt concept]
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
- Rosai-Dorfman-Destombes Disease [NCIt concept]
pathogenesis_of_disease_involves_gene
- CASP8 Gene [NCIt concept]
- CASP8 wt Allele [NCIt concept]
- CASP8*1 Allele [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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