Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Gluthathione peroxidase deficiency |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Combined phagocytic defect |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Langerhans cell histiocytosis, disseminated (clinical) |
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 |
|
Langerhans cell histiocytosis, unifocal, bone |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
primær amyloidose af letkædetype |
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 |
|
African Burkitt's lymphoma |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Iron absorption measurement (procedure) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
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 |
|
Hemolytic disease of fetus OR newborn due to isoimmunization |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
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 |
|
March hemoglobinuria |
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 |
|
Progressive systemic mastocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Heparin-induced thrombocytopenia with thrombosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Isotope study for red blood cell sequestration |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Isotope study for red blood cell sequestration |
Procedure site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
2 |
Isotope study for red blood cell survival with sequestration (procedure) |
Procedure site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
2 |
Isotope study for red blood cell survival with sequestration (procedure) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Chronic granulomatous disease |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Abnormal platelet production |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Blood group A |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Blood group B |
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 |
|
Hemoglobin finding |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Red blood cell finding |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Red blood cell inclusions (finding) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Howell Jolly bodies (finding) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Pappenheimer bodies (finding) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Heinz bodies (finding) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Haemoglobin H inclusions |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Red blood cell population finding |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Dimorphic red blood cell population |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Elliptocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Dacrocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Pyknocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Helmet cell |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Sputnik cells (finding) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Bite cells (finding) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Echinocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Acanthocytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Spur cell |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Rytiocytose |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Microspherocytes seen |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Puddle cells (finding) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Normochromic red blood cells |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
White blood cell finding |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Neutrophil abnormality |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Hypersegmentation |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Pseudo-Pelger-Huet form |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Ring-form neutrophil |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Macropolycytosis |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
May-Hegglins anomali |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Alius-Grignaschi anomaly |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Cytoplasmic vacuolation |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Drumstick nuclear appendage |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Lymphocyte abnormality |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Plasmacytoid lymphocytes (finding) |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Giant granulation |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Reversed differential |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
White blood cell chromosome abnormality |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Platelet finding |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Intrinsic coagulation pathway finding |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Extrinsic coagulation pathway finding |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Fibrinogen screening finding |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
fund vedr. fibrinolytisk system |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Thrombotic tendency observations |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Blood transfusion finding |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Blood group A2B |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Rh negative Du positive |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
CDE genotype |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
CDe genotype |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
CdE genotype |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Cde genotype |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
cDE genotype |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
cDe genotype |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
cdE genotype |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
cde genotype |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|
Kell antigen type |
Finding site |
False |
Haematopoietic system structure |
Inferred relationship |
Some |
|