CDC73-Related Neoplastic Syndrome

Preferred Label : CDC73-Related Neoplastic Syndrome;

NCIt definition : A group of autosomal dominant-inherited disorders caused by mutation(s) in the CDC73 gene, encoding parafibromin. These disorders are associated with hyperparathyroidism secondary to parathyroid neoplasms.;

NCI Metathesaurus CUI : CL1647853;

Détails

Origin ID

C178382;

UMLS CUI

C5554996;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_excludes_molecular_abnormality
- CASR Gene Mutation [NCIt concept]
- MEN1 Gene Mutation [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- CDC73 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- CDC73 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDC73 Gene [NCIt concept]
- CDC73 wt Allele [NCIt concept]
related_to_genetic_biomarker
- CDC73 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients