Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Anemia due to blood loss (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Hypochromic microcytic anemia with iron overload (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Hemolytic anemia caused by Bartonella |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Hemolytic anemia due to babesiosis |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Mycoplasmal anemia (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Hemolytic anemia due to infection |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Anemia due to infection |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Haemolytic anaemia caused by Clostridium welchii |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
2 |
Oroya fever |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
2 |
Hemolytic anemia due to malaria |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Anemia following acute postoperative blood loss (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Anaemia co-occurrent and due to chronic kidney disease stage 3 |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Anaemia co-occurrent with human immunodeficiency virus infection |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Anaemia caused by zidovudine |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
4 |
Aplastic anaemia co-occurrent with human immunodeficiency virus infection |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Acquired hemolytic anemia co-occurrent with human immunodeficiency virus infection (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Antibody mediated acquired pure red cell aplasia caused by erythropoiesis stimulating agent (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
4 |
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
4 |
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Anemia co-occurrent and due to chronic kidney disease stage 4 (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
2 |
Anemia co-occurrent and due to chronic kidney disease stage 5 (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
2 |
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
4 |
Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
5 |
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
4 |
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
5 |
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
6 |
Megaloblastic anemia due to folate deficiency due to increased requirement (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
5 |
Megaloblastic anemia due to folate deficiency in pregnancy and lactation (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
5 |
Megaloblastic anemia due to folate deficiency in prematurity (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
5 |
Hemolytic disease of newborn co-occurrent and due to ABO immunization (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Thrombocytopenia with congenital dyserythropoietic anemia is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
4 |
Polycythemia neonatorum due to inherited disorder of erythropoietin production (disorder) |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
2 |
Polycythemia neonatorum following blood transfusion (disorder) |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
6 |
Haemolytic uraemic syndrome with either a family history of haemolytic uraemic syndrome or a genetic mutation known to cause haemolytic uraemic syndrome, or both. |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder) |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
4 |
Iron deficiency anemia due to blood loss (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Acquired iron deficiency anemia due to decreased absorption (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Secondary autoimmune haemolytic anaemia co-occurrent and due to systemic lupus erythematosus |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Secondary autoimmune hemolytic anemia co-occurrent and due to chronic inflammatory disease (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Secondary autoimmune hemolytic anemia co-occurrent and due to lymphoproliferative disorder |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Secondary autoimmune hemolytic anemia co-occurrent and due to rheumatic disorder (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Secondary autoimmune hemolytic anemia co-occurrent and due to ulcerative colitis (disorder) |
Finding site |
False |
Erythrocyte (cell) |
Inferred relationship |
Some |
|
Hemoglobin M disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Thalassemia intermedia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
A severe form of alpha-thalassemia that is mostly lethal and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
A>gamma< beta^+^ HPFH AND beta^0^ thalassaemia in cis |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hemoglobin D trait |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
beta^+^ Thalassemia, normal Hb A>2<, type 2 |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Delta beta thalassemia (disorder) |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Sickle cell trait |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Delta thalassaemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hereditary persistence of fetal hemoglobin thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Unstable hemoglobin disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Heterozygous thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Double heterozygous sickling disorder |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Epsilon gamma delta beta thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hemoglobin E disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Sickle cell-hemoglobin D disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Homozygous beta thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Beta zero thalassemia deletion type |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
HPFH unlinked to beta-globulin gene cluster |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Sickle cell-hemoglobin C disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Alpha plus thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Sickle cell-thalassemia disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
4 |
HPFH A gamma beta^+^ thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hemoglobin E trait |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Sickle cell-hemoglobin E disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Thalassemia with other hemoglobinopathy |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Beta plus thalassemia normal hemoglobin A>2< type 1 silent (disorder) |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hemoglobin H disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hemoglobin C disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Hereditary persistence of fetal hemoglobin delta beta plus thalassemia (disorder) |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hereditary persistence of fetal hemoglobin, nondeletion type (disorder) |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hereditary persistence of fetal hemoglobin G gamma beta plus thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Thalassemia-hemoglobin C disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Delta zero thalassemia (disorder) |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Beta thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Alpha zero thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hemoglobin D disease |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Alpha thalassemia (disorder) |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hb Lepore thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Epsilon gamma delta beta^0^ thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Thalassemia major |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Hemoglobin C trait |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
1 |
Delta beta zero thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Beta plus thalassemia |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Thalassemia syndrome |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
Alpha plus thalassemia non deletion type (disorder) |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |
HPFH deletion type |
Finding site |
True |
Erythrocyte (cell) |
Inferred relationship |
Some |
3 |