- Refractory anemia with ringed sideroblasts (HP:0004828): A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:75564)
- Anemia of inadequate production (HP:0010972): A kind of anemia characterized by inadequate production of erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:75564)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75564)
- Normochromic anemia (HP:0001895). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75564)
- Normocytic anemia (HP:0001897): A kind of anemia in which the volume of the red blood cells is normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75564)
- Erythroid hyperplasia (HP:0012132): Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75564)
- Megaloblastic erythroid hyperplasia (HP:0200143). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75564)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75564)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75564)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75564)
- Hypochromic anemia (HP:0001931): A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75564)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75564)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75564)
- Hyposegmentation of neutrophil nuclei (HP:0011447): Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75564)
- Dysplastic granulopoesis (HP:0012136). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75564)
- Abnormal number of granulocyte precursors (HP:0012137). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75564)
- 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: Occasional (HP:0040283). (ORPHA:75564)
- Chronic infection (HP:0031035): Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75564)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75564)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75564)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75564)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75564)
- Thrombocytosis (HP:0001894): Increased numbers of platelets in the peripheral blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75564)
- Decreased total granulocyte count (HP:0001913): Abnormal decrease of absolute number of granulocytes in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75564)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75564)
- Acute myeloid leukemia (HP:0004808): A form of leukemia characterized by overproduction of an early myeloid cell. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75564)
- Increased megakaryocyte count (HP:0005513): Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75564)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75564)
These phenotypes are associated with the disease Acquired idiopathic sideroblastic anemia (ORPHA:75564).