Details of Disease

General Information of Disease (ID: DISOIGHH)

Disease Name Familial polycythemia
Synonyms primary polycythemia; hereditary polycythemia (disease); familial polycythemia; erythrocytosis, familial
Definition Polycythemia that occurs in groups of related individuals.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS8B6VW: Polycythemia
DISOIGHH: Familial polycythemia
Disease Identifiers
MONDO ID
MONDO_0001115
UMLS CUI
C0152264
MedGen ID
57520
SNOMED CT ID
17342003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EPAS1 TTWPA54 Strong Genetic Variation [1]
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References

1 EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.Hematology. 2016 Dec;21(10):619-622. doi: 10.1080/10245332.2016.1192394. Epub 2016 Jun 13.