Phenotypes associated with the disease Thrombocytopenia with congenital dyserythropoietic anemia (ORPHA:67044):
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67044)
- Hypochromic anemia (HP:0001931): A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67044)
- Poikilocytosis (HP:0004447): The presence of abnormally shaped erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67044)
- Anemia of inadequate production (HP:0010972): A kind of anemia characterized by inadequate production of erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67044)
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67044)
- Abnormal megakaryocyte morphology (HP:0012143): Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67044)
- Abnormality of multiple cell lineages in the bone marrow (HP:0012145). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67044)
- Macrothrombocytopenia (HP:0040185). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67044)
- Abnormal circulating lactate dehydrogenase concentration (HP:0045040): A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67044)