Germline FAS Gene Mutation

Preferred Label : Germline FAS Gene Mutation;

NCIt synonyms : Germline TNFRSF6 Gene Mutation; Germline TNF Receptor Superfamily Member 6 Gene Mutation; Germline Fas Cell Surface Death Receptor Gene Mutation; Germline CD95 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the FAS gene that originates in the gametes.;

NCI Metathesaurus CUI : CL1915175;

Details

Origin ID

C200919;

UMLS CUI

C5856467;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Autoimmune Lymphoproliferative Syndrome with Germline FAS Mutation [NCIt concept]
molecular_abnormality_involves_gene
- FAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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