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Polycythemia, primary familial and congenital MeSH Supplementary Concept Data 2024


MeSH Supplementary
Polycythemia, primary familial and congenital
Unique ID
C536842
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536842
Entry Term(s)
Benign Familial Polycythemia
Congenital Erythrocytosis
ECYT1 familial erythrocytosis-1
Erythrocytosis autosomal dominant benign
Erythrocytosis familial, 1
Erythrocytosis, Autosomal Dominant Benign
Erythrocytosis, Familial, 1
Familial Erythrocytosis
Familial Polycythemia
Familial erythrocytosis, 1
Hereditary Erythrocytosis
Primary Familial Polycythemia
Registry Number
0
Heading Mapped to
Polycythemia / *congenital
Frequency
38
Note
A hereditary form of polycythemia (increased red blood cell mass) that is characterized by hypersensitivity of erythroid cells to ERYTHROPOIETIN. It is caused by mutations in the ERYTHROPOIETIN RECEPTOR (EPOR) gene. OMIM: 133100
Date of Entry
2010/08/25
Revision Date
2019/06/20
Polycythemia, primary familial and congenital Preferred
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