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
Term information
- UMLS:C4015537 (MONDO:ncbi_mim2gene_medline)
- OMIM:616216 (MONDO:equivalentTo)
rare, nord_rare, clingen
THC5
thrombocytopenia 5 with increased susceptibility to malignancy
thrombocytopenia, autosomal dominant, 5