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. [ https://clinicalgenome.org/affiliation/50034/ http://www.ncbi.nlm.nih.gov/pubmed/28600339 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C563324 (MONDO:equivalentTo)
  • UMLS:C1832388 (Orphanet:71290)
  • GARD:0010352 (Orphanet-shared)
  • Orphanet:71290 (OMIM:601399)
  • ICD10:D69.4 (Orphanet:71290)
  • SCTID:725034002 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

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.

exactMatch

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

http://linkedlifedata.com/resource/umls/id/C1832388

http://identifiers.org/snomedct/725034002

http://identifiers.org/mesh/C563324

id

MONDO:0011071