Disease association ontology term - MONDO:0100216 - DICER1-related tumor predisposition
Term summary
- ID
- MONDO:0100216
- Name
- DICER1-related tumor predisposition
- Ontology or CV name
- Disease association
- Definition
- Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.
