DICER1-related tumor predisposition
http://purl.obolibrary.org/obo/MONDO_0100216
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. [ https://clinicalgenome.org/affiliation/50050/ PMID:21266384 PMID:24761742 https://clinicalgenome.org/affiliation/40023/ PMID:34599283 ]
Term info
https://github.com/monarch-initiative/mondo/issues/5779
http://orcid.org/0000-0001-5208-3432
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.
MONDO:0100216