Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemolytic anemia due to adenylate kinase deficiency (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anemia co-occurrent and due to chronic kidney disease stage 4 (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Estren-Dameshek anaemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Transient hypoplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aplastic anemia with AIDS (acquired immunodeficiency syndrome) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Anemia co-occurrent with human immunodeficiency virus infection (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dyserythropoietic anemia, type I |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anemia co-occurrent and due to chronic kidney disease stage 5 (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aplastic anaemia due to drugs |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital dyserythropoietic anaemia, type III |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aplastic anemia associated with pancreatitis (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mycoplasmal anemia (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital dyserythropoietic anemia type IV (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital dyserythropoietic anemia, type II |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anemia due to infection |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Unstable hemoglobin disease |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aplastic anaemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pancytopenia caused by medication |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital hypoplastic anaemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital dyserythropoietic anaemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pure red cell aplasia, acquired |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Humoral immunologic aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cellular immunologic aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Anemia caused by zidovudine (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Aplastic anemia due to chronic disease |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
WT limb blood syndrome (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired aplastic anemia (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Idiopathic aplastic anaemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Aplastic anemia associated with metabolic alteration (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Immunologic aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Secondary aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Acquired red cell aplasia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aplastic anaemia co-occurrent with human immunodeficiency virus infection |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Chronic acquired pure red cell aplasia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adult pure red cell aplasia (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Transient acquired pure red cell aplasia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Fanconi's anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Parvoviral aplastic crisis |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Aplastic anemia caused by antineoplastic agent |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Antibody mediated acquired pure red cell aplasia caused by erythropoiesis stimulating agent (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Constitutional aplastic anemia with malformation |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Revesz syndrome (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aplastic anaemia due to infection |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Constitutional aplastic anaemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ataxia pancytopenia syndrome (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Anemia due to and following chemotherapy |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary cryohydrocytosis with normal stomatin |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
2 |
Neonatal autoimmune hemolytic anemia (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary CD59 deficiency |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pancytopenia due to IKZF1 mutations |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
5 |
Hereditary isolated aplastic anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pancytopenia caused by immunosuppressant |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary cryohydrocytosis with reduced stomatin |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary elliptocytosis with transient poikilocytosis (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hereditary elliptocytosis |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Anaemia due to chronic infectious disease |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Gamma delta beta thalassemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atypical haemolytic uraemic syndrome |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Primaquine sensitivity anaemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Megaloblastic anemia due to dihydrofolate reductase deficiency (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hemolytic disease of fetus due to ABO immunization |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Anaemia due to chronic kidney disease stage 1 |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thrombocytopenic purpura |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Chronic idiopathic thrombocytopenic purpura |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Posttransfusion purpura (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
purpura thrombopénique idiopathique |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Post infectious thrombocytopenic purpura |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Thrombocytopenic purpura due to defective platelet production (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Thrombocytopenic purpura due to platelet consumption (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
purpura thrombopénique congénital |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Thrombocytopenic purpura associated with metabolic disorder (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
purpura thrombopénique aigu idiopathique |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Haemolytic anaemia of pregnancy |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Macrocytic anaemia of pregnancy |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nutritional anemia of pregnancy (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant sideroblastic anemia (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemolytic anemia due to red cell enolase deficiency (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Haemoglobin Paksé disease |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemoglobin Seal Rock disease (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Non autoimmune hemolytic anemia caused by drug (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Iron deficiency anaemia due to coeliac disease |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Iron deficiency anemia due to increased requirement in adolescence |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Iron deficiency anemia due to increased requirement in infancy |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Iron deficiency anemia following gastrectomy (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Anemia caused by antineoplastic agent |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pancytopenia caused by anticonvulsant |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pancytopenia caused by antithyroid drug (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anemia due to enzymopathy (disorder) |
Interprets |
False |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Homozygous hereditary elliptocytosis (disorder) |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hereditary iron deficiency anemia |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vitamin B12 deficiency anemia due to chronic atrophic gastritis |
Interprets |
True |
Measurement of total haemoglobin concentration |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |