monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
Creative Commons Attribution 4.0 International
234 stars 53 forks source link

[Merge] DICER1 syndrome #6460

Closed nicolevasilevsky closed 1 year ago

nicolevasilevsky commented 1 year ago

MONDO:0017288 DICER1 syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter.

MONDO:0100216 DICER1-related tumor predisposition 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.

ClinGen request, emailed with Sheng-An

related to #5779

nicolevasilevsky commented 1 year ago

note- this term should not be in the inherited disease susceptibility branch