| HPO |
HP:0001878 |
Hemolytic anemia |
"A type of anemia caused by premature destruction of red blood cells (hemolysis)." [HPO:probinson] |
Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. |
HP:0011895 |
| HPO |
HP:0001879 |
Abnormal eosinophil morphology |
"An abnormal count or structure of eosinophils." [HPO:probinson, PMID:23154224] |
Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged. |
HP:0001911 |
| HPO |
HP:0001880 |
Eosinophilia |
"Increased count of eosinophils in the blood." [HPO:sdoelken] |
— |
HP:0001974, HP:0020064 |
| HPO |
HP:0001881 |
Abnormal leukocyte morphology |
"An abnormality of leukocytes." [HPO:probinson] |
Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. |
HP:0001871, HP:0010987 |
| HPO |
HP:0001882 |
Leukopenia |
"An abnormal decreased number of leukocytes in the blood." [HPO:probinson] |
— |
HP:0011893 |
| HPO |
HP:0001883 |
Talipes |
"A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus." [HPO:sdoelken] |
Talipes means (a deformity of) foot and ankle. There are four types of talipes.\n1) Talipes equinovarus - the foot is pointing inwards and down (the most common form)\n2) Talipes equinovalgus - where the foot points outwards and down\n3) Talipes calcaneovarus - where the foot points inwards and up\n4) Talipes calcaneovalgus - where the foot points inwards and down. |
HP:0005656 |
| HPO |
HP:0001884 |
Talipes calcaneovalgus |
"Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg." [HPO:curators] |
— |
HP:0001883 |
| HPO |
HP:0001885 |
Short 2nd toe |
"Underdevelopment (hypoplasia) of the second toe." [HPO:probinson] |
— |
HP:0001831 |
| HPO |
HP:0001886 |
Foot osteomyelitis |
"An infection of bone of the foot." [] |
— |
HP:0001760, HP:0002754 |
| HPO |
HP:0001888 |
Lymphopenia |
"A reduced number of lymphocytes in the blood." [HPO:probinson] |
— |
HP:0040088 |
| HPO |
HP:0001889 |
Megaloblastic anemia |
"Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)." [HPO:probinson] |
Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. |
HP:0001972 |
| HPO |
HP:0001890 |
Autoimmune hemolytic anemia |
"An autoimmune form of hemolytic anemia." [HPO:probinson] |
— |
HP:0001878, HP:0002960 |
| HPO |
HP:0001891 |
Iron deficiency anemia |
— |
— |
HP:0001931 |
| HPO |
HP:0001892 |
Abnormal bleeding |
"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects." [HPO:probinson] |
This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. |
HP:0001871 |
| HPO |
HP:0001894 |
Thrombocytosis |
"Increased numbers of platelets in the peripheral blood." [HPO:probinson] |
Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. |
HP:0011873 |
| HPO |
HP:0001895 |
Normochromic anemia |
— |
— |
HP:0010972 |
| HPO |
HP:0001896 |
Reticulocytopenia |
"A reduced number of reticulocytes in the peripheral blood." [HPO:probinson] |
— |
HP:0004312 |
| HPO |
HP:0001897 |
Normocytic anemia |
"A kind of anemia in which the volume of the red blood cells is normal." [HPO:probinson] |
In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults). |
HP:0010972 |
| HPO |
HP:0001898 |
Increased red blood cell mass |
"The presence of an increased mass of red blood cells in the circulation." [HPO:probinson] |
— |
HP:0001901 |
| HPO |
HP:0001899 |
Increased hematocrit |
"An elevation above the normal ratio of the volume of red blood cells to the total volume of blood." [HPO:probinson] |
— |
HP:0031850 |
| HPO |
HP:0001900 |
Increased hemoglobin |
— |
— |
HP:0001901 |
| HPO |
HP:0001901 |
Polycythemia |
"Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal." [HPO:probinson] |
— |
HP:0001877 |
| HPO |
HP:0001902 |
Giant platelets |
"Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998)." [HPO:probinson] |
This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly. |
HP:0011877 |
| HPO |
HP:0001903 |
Anemia |
"A reduction in erythrocytes volume or hemoglobin concentration." [HPO:probinson] |
Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. |
HP:0001877 |
| HPO |
HP:0001904 |
Neutropenia in presence of anti-neutropil antibodies |
"A type of neutropenia that is observed in the presence of granulocyte-specific antibodies." [HPO:probinson, PMID:25642312] |
The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction. |
HP:0001875, HP:0002960 |