Hereditary Gastrointestinal Stromal Tumor

Preferred Label : Hereditary Gastrointestinal Stromal Tumor;

NCIt synonyms : Familial GIST; Familial GIST Syndrome;

NCIt related terms : Familial Gastrointestinal Stromal Tumor;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the KIT or PDGFRA genes, encoding mast/stem cell growth factor receptor Kit and platelet derived growth factor receptor alpha respectively. The condition is characterized by the occurrence of multiple gastrointestinal stromal tumors (GIST).;

NCI Metathesaurus CUI : CL1642916;

Details

Origin ID

C176906;

UMLS CUI

C2674636;

Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_associated_disease
- Gastrointestinal Stromal Tumor [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- KIT Gene [NCIt concept]
- PDGFRA Gene [NCIt concept]
disease_may_have_molecular_abnormality
- KIT Gene Mutation [NCIt concept]
- PDGFRA Gene Mutation [NCIt concept]
pathogenesis_of_disease_involves_gene
- KIT Gene [NCIt concept]
- KIT wt Allele [NCIt concept]
- PDGFRA Gene [NCIt concept]
- PDGFRA wt Allele [NCIt concept]
related_to_genetic_biomarker
- KIT Gene [NCIt concept]
- PDGFRA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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