Germline CASP8 Gene Mutation

Preferred Label : Germline CASP8 Gene Mutation;

NCIt synonyms : Germline Caspase 8 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the CASP8 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL1915459;

Details

Origin ID

C201062;

UMLS CUI

C5856610;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation [NCIt concept]
molecular_abnormality_involves_gene
- CASP8 Gene [NCIt concept]

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