Phenotypes associated with the disease erythrocytosis, familial, 3 (OMIM:609820):
- Increased circulating hemoglobin concentration (HP:0001900): Concentration of hemoglobin in the blood circulation above the upper limit of normal. Evidence: IEA. (OMIM:609820)
- Increased hematocrit (HP:0001899): An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. Evidence: IEA. (OMIM:609820)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:609820)
- Increased red blood cell mass (HP:0001898): The presence of an increased mass of red blood cells in the circulation. Evidence: IEA. (OMIM:609820)