Dicer1 Syndrome
Disease ID: disease_node_20090
Connections displayed (default: 10).
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| Dbxref | MIM:601200, ORDO:284343 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | PPB familial tumor susceptibility syndrome, Pleuro-pulmonary blastoma familial tumor susceptibility, Pleuro-pulmonary blastoma familial tumor susceptibility syndrome, Pleuropulmonary blastoma familial tumor susceptibility syndrome |
| Doid Label | DICER1 syndrome |
| Doid 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20090 |
| Doid Id | DOID_0081063 |
| Label | Dicer1 Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)