erythrocytosis, familial, 6
MONDO:0054801Mondo
Findings
No curated finding names erythrocytosis, familial, 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased circulating hemoglobin concentrationHPOHP:0001900
- 17 of 17 reported patients
- Increased hematocritHPOHP:0001899
- 17 of 17 reported patients
- PolycythemiaHPOHP:0001901
- 17 of 17 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HBBHGNC:4827
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: erythrocytosis, familial, 6
- Also called
- erythrocytosis 6