- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: IEA. (OMIM:263400)
- Peripheral thrombosis (HP:0002641). Evidence: IEA. (OMIM:263400)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: IEA. (OMIM:263400)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/7. (PMID:12844285)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:23403324)
- Plethora (HP:0001050). Evidence: IEA. (OMIM:263400)
- Elevated circulating erythropoietin concentration (HP:0033644): Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. Evidence: PCS. Frequency: 7/9. (PMID:12844285;PMID:23403324)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 1/1. (PMID:23403324)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. (OMIM:263400)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:23403324)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 7/8. (PMID:12844285;PMID:23403324)
- Varicose veins (HP:0002619): Enlarged and tortuous veins. Evidence: IEA. (OMIM:263400)
- Increased circulating hemoglobin concentration (HP:0001900): Concentration of hemoglobin in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 9/9. (PMID:12844285;PMID:23403324)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12844285)
- Increased hematocrit (HP:0001899): An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. Evidence: PCS. Frequency: 7/7. (PMID:12844285)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: IEA. (OMIM:263400)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 1/1. (PMID:23403324)
- Increased red blood cell mass (HP:0001898): The presence of an increased mass of red blood cells in the circulation. Evidence: IEA. (OMIM:263400)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: IEA. (OMIM:263400)
These phenotypes are associated with the disease Chuvash polycythemia (OMIM:263400).