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DICER1 syndrome
Disease Summary
Associated Targets ()
Mondo Description 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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
EFO:0009068
GARD:0010734
NCIT:C123317
Orphanet:284343
SCTID:702411003
UMLS:C3839822
UMLS:CN202862
UMLS:CN240512
MONDO:0017288
High level summary of knowledge for a disease, including descriptions and datasource references.