Phenotypes associated with the disease Hereditary spherocytosis (ORPHA:822):
- Increased red cell osmotic fragility (HP:0005502). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:822)
- 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: Frequent (HP:0040282). (ORPHA:822)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Spherocytosis (HP:0004444): The presence of erythrocytes that are sphere-shaped. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Spontaneous hemolytic crises (HP:0005525). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Hypofibrinogenemia (HP:0011900): Decreased concentration of fibrinogen in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Increased mean corpuscular hemoglobin concentration (HP:0025548): An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Hypercoagulability (HP:0100724): An abnormality of coagulation associated with an increased risk of thrombosis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:822)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:822)
- Restrictive cardiomyopathy (HP:0001723): Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:822)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:822)
- Extramedullary hematopoiesis (HP:0001978): The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:822)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:822)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:822)
- Chills (HP:0025143): A sudden sensation of feeling cold. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:822)
- Maculopapular exanthema (HP:0040186): A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:822)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:822)
- Gout (HP:0001997): Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:822)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:822)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:822)