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Erythrocytosis, familial, 3

MONDO:0012353

Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.

Also known as: EGLN1 familial polycythemia, erythrocytosis, familial, 3, erythrocytosis, familial, type 3, familial polycythemia caused by mutation in EGLN1, ECYT3

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Hematologic disorder (172) Immune system disorder (150) Bone marrow disorder (18) Human disease (15) Polycythemia (9) Skeletal system disorder (4) Disease of genetic or genomic mechanism (2)
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  • Breath test could replace needles for blood disorder diagnosis

    Diagnosis Completed

    This study tested a non-invasive breathing technique (CO-rebreathing) to measure red blood cell mass in people with polycythemia, a condition with too many red blood cells. The goal was to see if it works as well as the standard radioactive test. Sixty adults took part, and the r…

    Sponsor: Centre Hospitalier Universitaire, Amiens • Aim: Diagnosis

    Last updated Jun 26, 2026 19:07 UTC

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