Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Anemia co-occurrent and due to chronic kidney disease stage 4 (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Estren-Dameshek anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
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. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Transient hypoplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Aplastic anemia with AIDS (acquired immunodeficiency syndrome) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Anaemia co-occurrent with human immunodeficiency virus infection |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Congenital dyserythropoietic anemia, type I |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Anemia co-occurrent and due to chronic kidney disease stage 5 (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Aplastic anemia due to drugs |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Congenital dyserythropoietic anemia, type III |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Aplastic anemia associated with pancreatitis (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Mycoplasmal anemia (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Congenital dyserythropoietic anemia, type II |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Anemia due to infection |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Unstable hemoglobin disease |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Aplastic anaemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
4 |
Pancytopenia caused by medication (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
4 |
Congenital hypoplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Congenital dyserythropoietic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
erhvervet pure red cell-aplasi |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Humoral immunologic aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Congenital anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Cellular immunologic aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Anaemia caused by zidovudine |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Aplastic anemia due to chronic disease |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
5 |
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Acquired aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
5 |
Idiopathic aplastic anaemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
5 |
Aplastic anemia associated with metabolic alteration (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
5 |
Immunologic aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
5 |
Secondary aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
5 |
Acquired red cell aplasia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Aplastic anaemia co-occurrent with human immunodeficiency virus infection |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
4 |
Chronic acquired pure red cell aplasia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Transient acquired pure red cell aplasia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Fanconi's anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Parvoviral aplastic crisis (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Aplastic anemia caused by antineoplastic agent |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
5 |
Antibody mediated acquired pure red cell aplasia caused by erythropoiesis stimulating agent (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Constitutional aplastic anemia with malformation |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
5 |
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Aplastic anemia due to infection |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Constitutional aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Anemia due to and following chemotherapy |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
A very rare secondary neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
A rare genetic haematologic and neurologic disease characterised by chronic Coombs-negative haemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
4 |
A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
5 |
A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Pancytopenia caused by immunosuppressant |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Hereditary elliptocytosis with transient poikilocytosis |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Hereditary elliptocytosis |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
8 |
Anemia due to chronic infectious disease (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Gamma delta beta thalassemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Atypical haemolytic uraemic syndrome |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
4 |
Primaquine sensitivity anaemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Megaloblastic anemia due to dihydrofolate reductase deficiency (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Hemolytic disease of fetus due to ABO immunization |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
5 |
Anemia due to chronic kidney disease stage 1 |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Thrombocytopenic purpura |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
7 |
Chronic idiopathic thrombocytopenic purpura |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
9 |
Posttransfusion purpura |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
6 |
Idiopatisk trombocytopenisk purpura |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
8 |
Post infectious thrombocytopenic purpura |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
6 |
Thrombocytopenic purpura due to defective platelet production (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
6 |
Thrombocytopenic purpura due to platelet consumption (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
6 |
Kongenit trombocytopenisk purpura |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
7 |
Thrombocytopenic purpura associated with metabolic disorder (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
7 |
Akut idiopatisk trombocytopenisk purpura |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
9 |
Haemolytic anaemia of pregnancy |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
6 |
Macrocytic anaemia of pregnancy |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Nutritional anaemia of pregnancy |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Autosomal dominant sideroblastic anemia (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Hemolytic anemia due to red cell enolase deficiency (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Haemoglobin Paksé disease |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Hemoglobin Seal Rock disease (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Drug-induced non autoimmune haemolytic anaemia |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
4 |
Iron deficiency anaemia due to coeliac disease |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Iron deficiency anemia due to increased requirement in adolescence (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Acquired iron deficiency anaemia due to increased requirement in infancy |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Iron deficiency anemia following gastrectomy (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Anemia caused by antineoplastic agent |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Pancytopenia caused by anticonvulsant |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Pancytopenia caused by antithyroid drug (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Anemia due to enzymopathy (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
2 |
Homozygous hereditary elliptocytosis (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |
Hereditary iron deficiency anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
1 |
Vitamin B12 deficiency anemia due to chronic atrophic gastritis (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Some |
3 |