Human Diseases

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 Immune system diseases
 Nervous system diseases
 Cardiovascular diseases
   Cardiac diseases
   Vascular diseases
   Hematologic diseases
     H00228  Thalassemia
     H01752  ATR-X syndrome
     H00229  Sickle cell anemia
     H00230  Hereditary spherocytosis
     H00231  Hereditary elliptocytosis
     H00232  Hereditary stomatocytosis
     H00219  Hemophilia [PATH:hsa04610 hsa04512 hsa04640]
     H01254  Congenital prothrombin deficiency [PATH:hsa04610]
     H00220  Factor V deficiency [PATH:hsa04610]
     H00221  Combined deficiency of factors V and VIII [PATH:hsa04141]
     H00222  Afibrinogenemia [PATH:hsa04610]
     H00223  Inherited thrombophilia [PATH:hsa04610]
     H01740  Macrothrombocytopenia [PATH:hsa04151 hsa04510 hsa04611 hsa04810]
     H00224  Bernard-Soulier syndrome [PATH:hsa04512 hsa04640]
     H00233  MYH9-related disease [PATH:hsa04530 hsa04810]
     H02051  May-Hegglin anomaly [PATH:hsa04530 hsa04810]
     H02052  Sebastian syndrome
     H02053  Fechtner syndrome [PATH:hsa04530 hsa04810]
     H00226  Glanzmann thrombasthenia [PATH:hsa04512 hsa04510]
     H00225  Thrombotic thrombocytopenic purpura
     H00227  Congenital amegakaryocytic thrombocytopenia [PATH:hsa04060]
     H00234  Pelger-Huet anomaly
     H00235  Methemoglobinemia [PATH:hsa00520]
     H00236  Congenital polycythemia
     H00237  Diamond-Blackfan anemia [PATH:hsa03010]
     H00238  Fanconi anemia [PATH:hsa03460]
     H00490  Diaphyseal dysplasia with anemia [PATH:hsa00590]
     H00578  Epstein syndrome [PATH:hsa04530 hsa04810]
     H00664  Anemia due to disorders of glycolytic enzymes [PATH:hsa00010]
     H00668  Anemia due to disorders of glutathione metabolism [PATH:hsa00480 hsa00030]
     H02312  Glutathione synthetase deficiency [PATH:hsa00480 hsa04216]
     H00674  Anemia due to disorders of nucleotide metabolism [PATH:hsa00230 hsa00240]
     H00917  Congenital dyserythropoietic anemias (CDAs) [PATH:hsa04141]
     H02256  Factor VII deficiency [PATH:hsa04610]
     H02257  Factor X deficiency [PATH:hsa04610]
     H00938  Factor XI deficiency [PATH:hsa04610]
     H00941  Factor XII deficiency [PATH:hsa04610]
     H00945  Factor XIII deficiency [PATH:hsa04610]
     H02259  Stormorken syndrome [PATH:hsa04020 hsa04611]
     H00978  Thrombocytopenia (THC) [PATH:hsa04530]
     H00982  Sideroblastic anemia
     H00983  Alpha-2-plasmin inhibitor (a2-PI) deficiency [PATH:hsa04610]
     H00920  Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [PATH:hsa00190 hsa01100]
     H00995  Combined deficiency of vitamin K-dependent clotting factors [PATH:hsa00130]
     H01013  Adult i phenotype [PATH:hsa00601]
     H01031  Orthostatic intolerance [PATH:hsa04721]
     H01053  Paroxysmal nocturnal hemoglobinuria [PATH:hsa00563]
     H01078  Fletcher factor deficiency [PATH:hsa04610]
     H01096  Pyruvate kinase deficiency [PATH:hsa00010 hsa00230 hsa00620]
     H01106  Plasminogen activator inhibitor type 1 deficiency [PATH:hsa04115 hsa04610]
     H01125  Hereditary pyropoikilocytosis
     H01132  Aplastic anemia [PATH:hsa04380 hsa04612]
     H01145  Atransferrinemia [PATH:hsa04978]
     H01162  Scott syndrome
     H01183  Thiamine-responsive megaloblastic anemia
     H01196  Hypochromic microcytic anemia [PATH:hsa04142 hsa04978]
     H01206  Plasminogen deficiency [PATH:hsa04080 hsa04610]
     H01214  Rh-null hemolytic anemia (RHN)
     H01235  Bleeding disorder platelet-type
     H01252  Hereditary folate malabsorption [PATH:hsa04977 hsa04978]
     H01277  Vitamin B12 deficiency anaemia [PATH:hsa04977]
     H01278  Iron-refractory iron deficiency anemia
     H01303  Hypercatabolic hypoproteinemia [PATH:hsa04612]
     H01381  Antithrombin III deficiency [PATH:hsa04610]
     H01434  Atypical hemolytic uremic syndrome [PATH:hsa04610]
     H01481  Myelodysplastic syndrome [PATH:hsa03040 hsa04550]
     H01484  5q- syndrome [PATH:hsa03010]
     H01580  Vitamin C deficiency
     H01584  IgA vasculitis
     H01585  Autoimmune hemolytic anemia
     H01586  Acquired pure red cell aplasia
     H01587  Disseminated intravascular coagulation
     H01697  Antiphospholipid syndrome
     H01720  Southeast Asian ovalocytosis
     H01759  Autoimmune hemorrhaphilia XIII/13
     H01938  Hypermanganesemia with dystonia
     H01978  Dehydrated hereditary stomatocytosis
     H01979  Overhydrated hereditary stomatocytosis
     H02001  Familial pseudohyperkalemia
     H02002  Cryohydrocytosis
     H02092  von Willebrand disease [PATH:hsa04610 hsa04611]
     H02093  Platelet-type von Willebrand disease [PATH:hsa04611]
     H02097  Gray platelet syndrome
   Hypertensive diseases
 Respiratory diseases
 Endocrine and metabolic diseases
 Digestive system diseases
 Urinary system diseases
 Reproductive system diseases
 Musculoskeletal diseases
 Skin diseases
 Congenital disorders of metabolism
 Congenital malformations
 Other congenital disorders
 Other diseases

Last updated: February 25, 2021

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