- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:262875)
- 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: IEA. (OMIM:262875)
- Intermittent claudication (HP:0004417): Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. Evidence: IEA. (OMIM:262875)
These phenotypes are associated with the disease platelet prostacyclin receptor defect (OMIM:262875).