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Primary Familial Polycythemia Due To Epo Receptor Mutation (MONDO:0007572)

Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.

Overview

Category

musculoskeletal system disorder

immune system disorder

hematologic disorder

Ontology ID

MONDO:0007572

Internal:8950

Synonyms

EPOR familial polycythemia

PFCP

congenital erythrocytosis due to erythropoietin receptor mutation

congenital polycythemia due to erythropoietin receptor mutation

erythrocytosis, familial, 1

erythrocytosis, familial, type 1

erythrocytosis, somatic

familial erythrocytosis

familial erythrocytosis type 1

familial erythrocytosis, 1

familial polycythemia caused by mutation in EPOR

primary congenital erythrocytosis

primary familial and congenital polycythemia

ECYT1

autosomal dominant benign erythrocytosis

erythrocytosis autosomal dominant benign

erythrocytosis, autosomal dominant benign

polycythemia, primary familial and congenital

primary familial polycythemia

Mapped terms

DOID:0060652

GARD:0009843

ICD9:289.6

MEDGEN:1641215

OMIM:133100

Orphanet:90042

SCTID:17342003

UMLS:C4551637

icd11.foundation:962836252

Child terms

Unknown children.

Results

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