Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hereditary elliptocytosis with transient poikilocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Blood group deletion syndrome |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Abnormal cation transport syndrome |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
alfa/beta-lipoproteinæmi |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Non-malignant white cell disorder |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
X-bundet hypogammaglobulinæmi |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
T-cell lymphocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Chronic benign granulocytopenia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Chronic benign neutropenia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Metabolic neutropenia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Autoimmune neutropenia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Corticosteroid-induced neutrophilia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Monocytoid disorder |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Lymphocytoid disorder |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Chemotactic disorder |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
CR3-receptor-mangel |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Specific granule deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Myeloperoxidase deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Alders anomali |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Hereditary hypersegmentation |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Hemolytic erythrophagocytic syndrome |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Haemophagocytic lymphohistiocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Inherited platelet disorder |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Platelet membrane defect |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Glycoprotein Ia defect |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Glycoprotein Ib defect |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
von Willebrands sygdom, trombocyttype |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Dense body defect |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Thromboxane generation defect |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Cyclooxygenase deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Thromboxane synthetase deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Giant platelet syndrome |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Acquired platelet disorder |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Amegakaryocytic thrombocytopenia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Megakaryocytic thrombocytopenia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
May-Hegglins anomali |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Epsteins syndrom |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
1 |
Montreal platelet syndrome (disorder) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Mediterranean thrombocytopenia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
metabolisk trombocytopenisk purpura |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Immunbetinget trombocytopenisk purpura |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Embolic purpura |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
4 |
Reactive thrombocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Post-splenectomy thrombocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Post-splenectomy leukocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Leukocyte adhesion deficiency - type 1 |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Leucocyte adhesion deficiency - type 2 |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Defective phagocytic cell killing |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Leukocyte glucose-6-phosphate dehydrogenase deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Neutrophil lactoferrin deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Neutrophil secondary granule deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. Transmission is autosomal recessive. |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Gluthathione peroxidase deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Combined phagocytic defect |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Pearson's syndrome |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
A rare lipoprotein metabolism disorder characterised clinically by corneal opacities and sometimes renal failure and haemolytic anaemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterised by corneal opacities, anaemia and renal insufficiency and Fish-eye disease characterised by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyses the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations. |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
A form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterised clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. The disease is very rare. Corneal opacities are progressive and are observed from an early age (adolescence or young adulthood) and sometimes result in visual impairment. These lesions are generally more severe than in complete LCAT deficiency and form a mosaic pattern of small dot-like grey-white opacities. Signs of atherosclerosis have only been reported in rare cases although patients have low HDL cholesterol levels. In patients with this disorder, alpha-LCAT activity is abolished, but beta-LCAT activity is preserved. Impaired enzyme function is thought to result in deposition of lipids in the cornea. The disease follows an autosomal recessive pattern of inheritance. |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Gammopathy |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Basophilic hyperplasia (disorder) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Eosinophilic panniculitis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Eosinophilic cellulitis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Toxic oil syndrome |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
African Burkitt's lymphoma |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
1 |
akatalasæmi |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Chédiak-Higashi syndrome |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Hemolytic uremic syndrome |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
1 |
Hemolytic disease of the newborn due to non-ABO, non-Rh isoimmunization |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Anemia due to infection |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Congenital atransferrinaemia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Beta zero thalassemia non deletion type (disorder) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
anæmi forårsaget af ukendte eller multiple mekanismer |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Anemia due to copper deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Anemia due to membrane defect |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Acquired stomatocytosis (disorder) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Anemia due to enzyme deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
hereditær non-sfærocytisk hæmolytisk anæmi forårsaget af aldolase A-mangel |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Anemia caused by physical agent (disorder) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
hæmolytisk anæmi associeret med reumatisk sygdom |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Leukocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Reticular dysgenesis (disorder) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Neutropenia associated with autoimmune disease |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Heparin-induced thrombocytopenia with thrombosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Familial neutropenia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Chronic idiopathic neutropenia (disorder) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Lymphoproliferative disorder following transplantation |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
angioendoteliomatose |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
2 |
Benign cephalic histiocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Hereditary acanthocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
monoklonal paraproteinæmi |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Kongenit trombocytopenisk purpura |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Beta thalassaemia trait |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
pseudo-von Willebrands sygdom |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Anemia due to niacin deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Anemia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Relative anemia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Malignant lymphoma - lymphocytic, intermediate differentiation |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
1 |
Idiopathic sideroblastic anemia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Autoimmune neonatal thrombocytopenia |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Neutropenia of the small for gestational age baby |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|