Phenotypes associated with the disease hereditary spherocytosis type 5 (OMIM:612690):
- Increased red cell osmotic fragility (HP:0005502). Evidence: PCS. (PMID:7803799)
- Spherocytosis (HP:0004444): The presence of erythrocytes that are sphere-shaped. Evidence: PCS. (PMID:7803799)
- Abnormal leukocyte count (HP:0011893): Number of leukocytes per volume of blood beyond normal limits. Evidence: PCS. Frequency: 0/1. (PMID:7803799)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. (PMID:7803799)
- 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:7803799)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:7803799)
- Abnormal platelet count (HP:0011873): Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. Evidence: PCS. Frequency: 0/1. (PMID:7803799)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:7803799)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: PCS. Frequency: 1/1. (PMID:7803799)