Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: thrombocytopenia caused by mutation in ETV6 thrombocytopenia type 5 thrombocytopenia 5 ETV6 thrombocytopenia

This is just here as a test because I lose it

Term information

database cross reference
Subsets

rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6928

exactMatch

https://omim.org/entry/616216

http://linkedlifedata.com/resource/umls/id/C4015537

has related synonym

THC5

thrombocytopenia 5 with increased susceptibility to malignancy

thrombocytopenia, autosomal dominant, 5

id

MONDO:0014536

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014536