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. [ NCIT : C123317 ]
This is just here as a test because I lose it
Term information
database
cross reference
- SCTID:702411003 (MONDO:equivalentTo)
- UMLS:CN202862 (MONDO:equivalentTo)
- EFO:0009068 (MONDO:equivalentTo)
- UMLS:C3839822 (NCIT:C123317)
- GARD:0010734 (MONDO:equivalentTo)
- UMLS:CN240512 (MONDO:equivalentTo)
- ICD9:199.1 (MONDO:relatedTo)
- NCIT:C123317 (MONDO:equivalentTo)
- Orphanet:284343 (MONDO:equivalentTo)
Subsets
gard_rare, ordo_clinical_subtype
definition
- 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.
exactMatch
- http://identifiers.org/snomedct/702411003
- http://www.orpha.net/ORDO/Orphanet_284343
- http://purl.obolibrary.org/obo/NCIT_C123317
- http://linkedlifedata.com/resource/umls/id/CN240512
- http://linkedlifedata.com/resource/umls/id/CN202862
- http://linkedlifedata.com/resource/umls/id/C3839822
has exact synonym
- pleuropulmonary blastoma familial tumor susceptibility syndrome
- PPB familial tumor susceptibility syndrome
- DICER1 syndrome
- pleuro-pulmonary blastoma familial tumor susceptibility syndrome
- PPBFTDS
has related synonym
- DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
- DICER1-related pleuropulmonary blastoma
id
- MONDO:0017288
seeAlso
- https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome
Term relations
Subclass of: