Autoimmune Lymphoproliferative Syndrome with Somatic FAS Mutation

Preferred Label : Autoimmune Lymphoproliferative Syndrome with Somatic FAS Mutation;

NCIt synonyms : ALPS with Somatic FAS Mutation;

NCIt definition : Autoimmune lymphoproliferative syndrome characterized by the presence of somatic FAS mutation.;

NCI Metathesaurus CUI : CL1915434;

Details

Origin ID

C201053;

UMLS CUI

C5856601;

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_has_abnormal_cell
- Reactive Lymphocyte [NCIt concept]
disease_has_molecular_abnormality
- FAS Gene Mutation [NCIt concept]
- Somatic FAS Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Lymphocyte [NCIt concept]
disease_mapped_to_gene
- FAS 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]

Keyword's position in hierarchy(ies) :

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