Genetic Predisposition to Myofibromatosis

Preferred Label : Genetic Predisposition to Myofibromatosis;

NCIt definition : An inherited condition caused by mutation(s) in the NOTCH3 or PDGFRB genes, encoding neurogenic locus notch homolog protein 3 and platelet-derived growth factor receptor beta, respectively. The condition is characterized by an increased risk of developing myofibroma.;

NCI Metathesaurus CUI : CL1662289;

Details

Origin ID

C179470;

UMLS CUI

C5555716;

Semantic type(s)
- Finding [UMLS semantic type]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
related_to_genetic_biomarker
- NOTCH3 Gene [NCIt concept]
- PDGFRB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients