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Disease Ontology Browser
DICER1 syndrome (DOID:0081063)
Alliance: disease page
Synonyms: Pleuro-pulmonary blastoma familial tumor susceptibility; Pleuro-pulmonary blastoma familial tumor susceptibility syndrome; Pleuropulmonary blastoma familial tumor susceptibility syndrome; PPB familial tumor susceptibility syndrome
Alt IDs: OMIM:601200, ORDO:284343
Definition: A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory