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hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0011071

The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes. [ http://www.ncbi.nlm.nih.gov/pubmed/28600339 https://clinicalgenome.org/affiliation/50034/ ]

Synonyms: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:71290 (OMIM:601399)
  • SCTID:725034002 (MONDO:equivalentTo)
  • MESH:C563324 (MONDO:equivalentTo)
  • GARD:10352 (Orphanet:71290)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://www.orpha.net/ORDO/Orphanet_71290

http://identifiers.org/snomedct/725034002

http://identifiers.org/mesh/C563324

has related synonym

familial platelet syndrome with predisposition to acute myelogenous leukaemia

thrombocytopenia, familial, with propensity to acute myelogenous leukaemia

familial thrombocytopenia with propensity to acute myelogenous leukaemia

id

MONDO:0011071

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011071