Thrombocythemia 2

Preferred Label : Thrombocythemia 2;

Symbol : THCYT2;

CISMeF acronym : THCYT2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Caused by mutation in the myeloproliferative leukemia virus oncogene (MPL, 159530.0009);

Prefixed ID : #601977;

Details

Origin ID

601977;

UMLS CUI

C3275998;

Automatic exact mappings (from CISMeF team)
- Familial thrombocytosis [ORDO Disease]
- MPL wt Allele [NCIt concept]
DO Cross reference
- essential thrombocythemia [DO Concept]
Genes related to phenotype
- Mpl protooncogene, thrombopoietin receptor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Increased megakaryocyte count [HPO term]
- Somatic mutation [HPO term]
- Thrombocytosis [HPO term]
ORDO concept(s)
- Essential thrombocythemia [ORDO Disease]
- Familial thrombocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Essential thrombocythemia [ORDO Disease]

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