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DICER1-related tumor predisposition

Go to external page http://purl.obolibrary.org/obo/MONDO_0100216

Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described. [ http://www.ncbi.nlm.nih.gov/pubmed/21266384 https://clinicalgenome.org/affiliation/50050/ http://www.ncbi.nlm.nih.gov/pubmed/24761742 http://www.ncbi.nlm.nih.gov/pubmed/34599283 https://clinicalgenome.org/affiliation/40023/ ]

Synonyms: pleuro-pulmonary blastoma familial tumour susceptibility syndrome PPBFTDS pleuropulmonary blastoma familial tumor susceptibility syndrome pleuro-pulmonary blastoma familial tumor susceptibility syndrome PPB familial tumor susceptibility syndrome DICER1 syndrome PPB familial tumour susceptibility syndrome pleuropulmonary blastoma familial tumour susceptibility syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0081063 (MONDO:equivalentTo)
  • UMLS:C3839822 (MONDO:equivalentTo)
  • NCIT:C123317 (MONDO:equivalentTo)
  • ICD9:199.1 (MONDO:relatedTo)
  • Orphanet:284343 (MONDO:equivalentTo)
  • GARD:10734 (MONDO:GARD)
  • MEDGEN:825667 (MONDO:equivalentTo)
  • SCTID:702411003 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, rare, orphanet_rare, clingen

UK spelling synonym
pleuropulmonary blastoma familial tumour susceptibility syndrome

ClinGen label
DICER1 syndrome [ GARD:0010734 Orphanet:284343 NCIT:C123317 ]

UK spelling synonym
PPB familial tumour susceptibility syndrome

abbreviation
PPBFTDS [ Orphanet:284343 ]

UK spelling synonym
pleuro-pulmonary blastoma familial tumour susceptibility syndrome

creator

https://orcid.org/0000-0001-5208-3432

exactMatch

http://linkedlifedata.com/resource/umls/id/C3839822

http://identifiers.org/medgen/825667

http://www.orpha.net/ORDO/Orphanet_284343

http://purl.obolibrary.org/obo/DOID_0081063

http://identifiers.org/snomedct/702411003

http://purl.obolibrary.org/obo/NCIT_C123317

has related synonym

DICER1-related pleuropulmonary blastoma cancer predisposition syndrome

DICER1-related pleuropulmonary blastoma

id

MONDO:0100216

seeAlso

https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome

term tracker item

https://github.com/monarch-initiative/mondo/issues/6460

https://github.com/monarch-initiative/mondo/issues/5779