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DO Term : DICER1 syndrome [DOID:0081063] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Pleuro-pulmonary blastoma familial tumor susceptibility,
  • Pleuro-pulmonary blastoma familial tumor susceptibility syndrome,
  • 601200,
  • PPB familial tumor susceptibility syndrome,
  • Pleuropulmonary blastoma familial tumor susceptibility syndrome,
  • OMIM:601200,
  • ORDO:284343
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents