Thrombocytopenia 5

Preferred Label : Thrombocytopenia 5;

Symbol : THC5;

CISMeF acronym : THC5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytopenia, autosomal dominant, 5; Thrombocytopenia 5 with increased susceptibility to malignancy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ETS variant gene 6 (ETV, 600618.0003);

Neoplasia : Increased susceptibility to hematologic malignancies;

Prefixed ID : #616216;

Details

Origin ID

616216;

UMLS CUI

C4015537;

Genes related to phenotype
- Ets variant transcription factor 6 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Neutropenia [HPO term]
- Petechiae [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Familial platelet disorder with associated myeloid malignancy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thrombocytopenia 5 [NCIt concept]

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