Phenotypes associated with the disease Rh deficiency syndrome (ORPHA:71275):
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:71275)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:71275)
- Increased red cell osmotic fragility (HP:0005502). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:71275)
- Decreased circulating haptoglobin concentration (HP:0020181): The concentration of haptoglobin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:71275)
- Positive direct antiglobulin test (HP:0032366): A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:71275)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:71275)
- Spherocytosis (HP:0004444): The presence of erythrocytes that are sphere-shaped. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:71275)
- Stomatocytosis (HP:0004446): The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:71275)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:71275)
- Hypochromia (HP:0032231): A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:71275)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71275)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71275)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71275)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71275)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71275)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71275)
- Miscarriage (HP:0005268): A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71275)
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71275)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71275)
- Macrocytic anemia (HP:0001972): A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:71275)