Blood/lymphatic system

The circulatory and lymphatic systems are the body's transport system. They carry nutrients and other important molecules to cells and carry away waste. When these systems do not function properly, the body is more susceptible to illness and infection.

• A-alphalipoprotein Neuropathy see Tangier disease
• A-T see ataxia-telangiectasia
• Aase-Smith syndrome II see Diamond-Blackfan anemia
• Aase syndrome see Diamond-Blackfan anemia
• abetalipoproteinemia
• acanthocytosis see abetalipoproteinemia
• acanthocytosis with neurologic disorder see chorea-acanthocytosis
• aceruloplasminemia
• acute promyelocytic leukemia
• afibrinogenemia see congenital afibrinogenemia
• agnogenic myeloid metaplasia see primary myelofibrosis
• aHUS see atypical hemolytic-uremic syndrome
• alpha High Density Lipoprotein Deficiency Disease see Tangier disease
• alpha thalassemia
• alpha thalassemia X-linked intellectual disability syndrome
• AML M3 see acute promyelocytic leukemia
• Analphalipoproteinemia see Tangier disease
• Anemia, Dyserythropoietic, Congenital see congenital dyserythropoietic anemia
• Anemia, hereditary sideroblastic see X-linked sideroblastic anemia
• Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia
• angiohemophilia see von Willebrand disease
• ANH1 see X-linked sideroblastic anemia
• anti-phospholipid syndrome see antiphospholipid syndrome
• antiphospholipid syndrome
• Antithrombin III Deficiency see hereditary antithrombin deficiency
• APC resistance, Leiden type see factor V Leiden thrombophilia
• APL see acute promyelocytic leukemia
• Apolipoprotein B deficiency see abetalipoproteinemia
• Arakawa syndrome 1 see glutamate formiminotransferase deficiency
• ataxia-telangiectasia
• ATM see ataxia-telangiectasia
• ATR-X syndrome see alpha thalassemia X-linked intellectual disability syndrome
• ATRX syndrome see alpha thalassemia X-linked intellectual disability syndrome
• atypical hemolytic-uremic syndrome
• atypical Philadelphia-negative chronic myeloid leukemia see PDGFRB-associated chronic eosinophilic leukemia
• autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• autosomal dominant MYH9 spectrum disorders see MYH9-related disorder
• basal ganglia disease, adult-onset see neuroferritinopathy
• Bassen-Kornzweig Syndrome see abetalipoproteinemia
• BDA see Diamond-Blackfan anemia
• BDS see Diamond-Blackfan anemia
• benign familial polycythemia see familial erythrocytosis
• Benign paroxysmal peritonitis see familial Mediterranean fever
• beta-sitosterolemia see sitosterolemia
• beta thalassemia
• Betalipoprotein Deficiency Disease see abetalipoproteinemia
• Blackfan Diamond anemia see Diamond-Blackfan anemia
• Blackfan-Diamond disease see Diamond-Blackfan anemia
• Blackfan-Diamond syndrome see Diamond-Blackfan anemia
• blue baby syndrome see methemoglobinemia, beta-globin type
• C1 esterase inhibitor deficiency see hereditary angioedema
• C1 inhibitor deficiency see hereditary angioedema
• CCM see cerebral cavernous malformation
• CDA see congenital dyserythropoietic anemia
• CEBPA-dependent familial acute myeloid leukemia see familial acute myeloid leukemia with mutated CEBPA
• central nervous system cavernous hemangioma see cerebral cavernous malformation
• cerebral cavernous malformation
• Cerebroside Lipidosis Syndrome see Gaucher disease
• CHAC see chorea-acanthocytosis
• Cholesterol thesaurismosis see Tangier disease
• chorea-acanthocytosis
• chromosome 1q21.1 deletion syndrome, 200-KB see thrombocytopenia-absent radius syndrome
• chronic congenital agenerative anemia see Diamond-Blackfan anemia
• chronic eosinophilic leukemia see PDGFRA-associated chronic eosinophilic leukemia
• chronic idiopathic myelofibrosis see primary myelofibrosis
• chronic myelomonocytic leukemia see PDGFRB-associated chronic eosinophilic leukemia
• chronic myeloproliferative disorder with eosinophilia see PDGFRB-associated chronic eosinophilic leukemia
• chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis see Majeed syndrome
• CIT see citrullinemia
• citrullinemia
• clonal eosinophilia with chronic myeloproliferative disorder see PDGFRB-associated chronic eosinophilic leukemia
• congenital afibrinogenemia
• Congenital Antithrombin III Deficiency see hereditary antithrombin deficiency
• Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
• congenital dyserythropoietic anemia
• congenital erythrocytosis see familial erythrocytosis
• congenital erythroid hypoplastic anemia see Diamond-Blackfan anemia
• congenital familial lymphedema see Milroy disease
• Congenital folate malabsorption see hereditary folate malabsorption
• congenital hypoplastic anemia of Blackfan and Diamond see Diamond-Blackfan anemia
• congenital methemoglobinemia see methemoglobinemia, beta-globin type
• congenital pure red cell anemia see Diamond-Blackfan anemia
• congenital pure red cell aplasia see Diamond-Blackfan anemia
• Congenital sideroblastic anaemia see X-linked sideroblastic anemia
• congenital spherocytic hemolytic anemia see hereditary spherocytosis
• congenital spherocytosis see hereditary spherocytosis
• cyclic neutropenia
• DBA see Diamond-Blackfan anemia
• Deficiency of glucose-6-phosphate dehydrogenase see glucose-6-phosphate dehydrogenase deficiency
• Deficiency of glutathione synthase see glutathione synthetase deficiency
• Deficiency of glutathione synthetase see glutathione synthetase deficiency
• 11q deletion disorder see Jacobsen syndrome
• 11q- deletion syndrome see Jacobsen syndrome
• 11q23 deletion disorder see Jacobsen syndrome
• Diamond-Blackfan anemia
• Duncan disease see X-linked lymphoproliferative disease
• dyserythropoietic anemia and thrombocytopenia
• dyskeratosis congenita
• dysprothrombinemia see prothrombin deficiency
• dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome
• EME see ethylmalonic encephalopathy
• Encephalopathy, petechiae, and ethylmalonic aciduria see ethylmalonic encephalopathy
• EPEMA syndrome see ethylmalonic encephalopathy
• Epstein-Barr virus-induced lymphoproliferative disease in males see X-linked lymphoproliferative disease
• erythroblastic anemia see beta thalassemia
• erythrogenesis imperfecta see Diamond-Blackfan anemia
• Erythroid 5-aminolevulinate synthase deficiency see X-linked sideroblastic anemia
• essential thrombocythemia
• ethylmalonic encephalopathy
• FA see Fanconi anemia
• Factor II Deficiency see prothrombin deficiency
• factor V deficiency
• factor V Leiden thrombophilia
• familial acute myeloid leukemia with mutated CEBPA
• familial afibrinogenemia see congenital afibrinogenemia
• familial apoceruloplasmin deficiency see aceruloplasminemia
• familial cavernous hemangioma see cerebral cavernous malformation
• familial cavernous malformation see cerebral cavernous malformation
• familial cerebral cavernous angioma see cerebral cavernous malformation
• familial cerebral cavernous malformation see cerebral cavernous malformation
• familial erythrocytosis
• familial fatal Epstein-Barr infection see X-linked lymphoproliferative disease
• Familial High Density Lipoprotein Deficiency Disease see Tangier disease
• Familial Hypoalphalipoproteinemia see Tangier disease
• familial Mediterranean fever
• Familial Thrombotic Thrombocytopenia Purpura see thrombotic thrombocytopenic purpura
• familial Turner syndrome see Noonan syndrome
• familial veno-occlusive disease with immunodeficiency see hepatic veno-occlusive disease with immunodeficiency
• Fanconi anemia
• Female Pseudo-Turner Syndrome see Noonan syndrome
• ferritin-related neurodegeneration see neuroferritinopathy
• FIGLU-uria see glutamate formiminotransferase deficiency
• FMF see familial Mediterranean fever
• Folic acid transport defect see hereditary folate malabsorption
• formiminoglutamic aciduria see glutamate formiminotransferase deficiency
• formiminotransferase deficiency see glutamate formiminotransferase deficiency
• G6PD Deficiency see glucose-6-phosphate dehydrogenase deficiency
• G6PDD see glucose-6-phosphate dehydrogenase deficiency
• GATA1-related cytopenia see dyserythropoietic anemia and thrombocytopenia
• GATA1-related X-linked cytopenia see dyserythropoietic anemia and thrombocytopenia
• Gaucher disease
• GD see Gaucher disease
• Glucocerebrosidase deficiency see Gaucher disease
• Glucocerebrosidosis see Gaucher disease
• glucose-6-phosphate dehydrogenase deficiency
• Glucosyl cerebroside lipidosis see Gaucher disease
• Glucosylceramidase deficiency see Gaucher disease
• Glucosylceramide beta-glucosidase deficiency see Gaucher disease
• Glucosylceramide lipidosis see Gaucher disease
• glutamate formiminotransferase deficiency
• glutathione synthetase deficiency
• HAE see hereditary angioedema
• HANAC see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• HANE see hereditary angioedema
• Hashimoto-Pritzger disease see Langerhans cell histiocytosis
• HbS disease see sickle cell disease
• HDL Lipoprotein Deficiency Disease see Tangier disease
• hemoglobin M disease see methemoglobinemia, beta-globin type
• Hemoglobin S Disease see sickle cell disease
• Hemoglobinuria, Paroxysmal see paroxysmal nocturnal hemoglobinuria
• hemophilia
• hepatic cirrhosis, dystonia, polycythaemia, and hypermanganesaemia see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• hepatic veno-occlusive disease with immunodeficiency
• hereditary angioedema
• hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• hereditary antithrombin deficiency
• hereditary ceruloplasmin deficiency see aceruloplasminemia
• hereditary erythrocytosis see familial erythrocytosis
• hereditary ferritinopathy see neuroferritinopathy
• hereditary folate malabsorption
• hereditary hemorrhagic telangiectasia
• Hereditary iron-loading anemia see X-linked sideroblastic anemia
• hereditary lymphedema type I see Milroy disease
• Hereditary Periodic Fever Syndromes see familial Mediterranean fever
• Hereditary resistance to activated protein C see factor V Leiden thrombophilia
• hereditary spherocytosis
• hereditary thrombophilia due to protein C deficiency see protein C deficiency
• hereditary thrombophilia due to protein S deficiency see protein S deficiency
• Hermansky-Pudlak syndrome
• HHT see hereditary hemorrhagic telangiectasia
• histiocytosis X see Langerhans cell histiocytosis
• HMDPC see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• Hoyeraal-Hreidarsson syndrome see dyskeratosis congenita
• HPS see Hermansky-Pudlak syndrome
• HS see hereditary spherocytosis
• Hughes syndrome see antiphospholipid syndrome
• hypermanganesemia with dystonia, polycythemia, and cirrhosis
• hyperprothrombinemia see prothrombin thrombophilia
• hypoceruloplasminemia see aceruloplasminemia
• hypoplastic congenital anemia see Diamond-Blackfan anemia
• Hypoprothrombinemia see prothrombin deficiency
• idiopathic myelofibrosis see primary myelofibrosis
• IMD2 see Wiskott-Aldrich syndrome
• immunodeficiency 2 see Wiskott-Aldrich syndrome
• inherited erythroblastopenia see Diamond-Blackfan anemia
• intracerebral cavernous hemangioma see cerebral cavernous malformation
• Jacobsen syndrome
• Kawasaki disease
• KD see Kawasaki disease
• Kerasin histiocytosis see Gaucher disease
• Kerasin lipoidosis see Gaucher disease
• Kerasin thesaurismosis see Gaucher disease
• labile factor deficiency see factor V deficiency
• LAM see lymphangioleiomyomatosis
• Langerhans cell histiocytosis
• LCH see Langerhans cell histiocytosis
• leukemia, acute promyelocytic see acute promyelocytic leukemia
• Lipoid histiocytosis (kerasin type) see Gaucher disease
• Lipoprotein Deficiency Disease, HDL, Familial see Tangier disease
• Louis-Bar syndrome see ataxia-telangiectasia
• lymphangioleiomyomatosis
• lymphangiomyomatosis see lymphangioleiomyomatosis
• lymphedema-distichiasis syndrome
• lymphedema praecox see Meige lymphedema
• lymphedema with distichiasis see lymphedema-distichiasis syndrome
• 3MGA see 3-methylglutaconic aciduria
• M3 ANLL see acute promyelocytic leukemia
• Majeed syndrome
• Male Turner Syndrome see Noonan syndrome
• Marchiafava-Micheli Syndrome see paroxysmal nocturnal hemoglobinuria
• McLeod neuroacanthocytosis syndrome
• mediterranean anemia see beta thalassemia
• Mediterranean Fever, Familial see familial Mediterranean fever
• MEF see familial Mediterranean fever
• Meige lymphedema
• methemoglobinemia, beta-globin type
• 3-methylglutaconic aciduria
• Microangiopathic hemolytic anemia see thrombotic thrombocytopenic purpura
• microcytemia, beta type see beta thalassemia
• Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
• Milroy disease
• Moschkowitz Disease see thrombotic thrombocytopenic purpura
• mucocutaneous lymph node syndrome see Kawasaki disease
• myelofibrosis with myeloid metaplasia see primary myelofibrosis
• myeloid leukemia, acute, M3 see acute promyelocytic leukemia
• myeloid metaplasia see primary myelofibrosis
• MYH9-related disorder
• MYH9RD see MYH9-related disorder
• neuroferritinopathy
• non-Shiga-like toxin-associated HUS see atypical hemolytic-uremic syndrome
• non-Stx-HUS see atypical hemolytic-uremic syndrome
• nonenteropathic HUS see atypical hemolytic-uremic syndrome
• Nonne-Milroy lymphedema see Milroy disease
• Noonan syndrome
• Osler-Rendu Disease see hereditary hemorrhagic telangiectasia
• Osler-Rendu-Weber disease see hereditary hemorrhagic telangiectasia
• Osler-Vaquez disease see polycythemia vera
• Osler's disease see hereditary hemorrhagic telangiectasia
• Owren disease see factor V deficiency
• 5-oxoprolinemia see glutathione synthetase deficiency
• 5-oxoprolinuria see glutathione synthetase deficiency
• parahemophilia see factor V deficiency
• parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• paroxysmal nocturnal hemoglobinuria
• PDGFRA-associated chronic eosinophilic leukemia
• PDGFRB-associated chronic eosinophilic leukemia
• Pearson marrow-pancreas syndrome
• Periodic Disease see familial Mediterranean fever
• periodic neutropenia see cyclic neutropenia
• Periodic peritonitis see familial Mediterranean fever
• PGK deficiency see phosphoglycerate kinase deficiency
• PGK1 deficiency see phosphoglycerate kinase deficiency
• phosphoglycerate kinase deficiency
• phytosterolaemia see sitosterolemia
• phytosterolemia see sitosterolemia
• PK deficiency see pyruvate kinase deficiency
• PKD see pyruvate kinase deficiency
• plant sterol storage disease see sitosterolemia
• polycythemia vera
• primary eosinophilia with chronic myeloproliferative disorder see PDGFRB-associated chronic eosinophilic leukemia
• primary familial polycythemia see familial erythrocytosis
• primary myelofibrosis
• primary polycythemia see polycythemia vera
• primary thrombocythemia see essential thrombocythemia
• primary thrombocytosis see essential thrombocythemia
• proaccelerin deficiency see factor V deficiency
• PROC deficiency see protein C deficiency
• protein C deficiency
• protein S deficiency
• prothrombin deficiency
• prothrombin thrombophilia
• PRV see polycythemia vera
• pseudo-Ullrich-Turner syndrome see Noonan syndrome
• pure hereditary red cell aplasia see Diamond-Blackfan anemia
• Purpura, Thrombotic Thrombocytopenic see thrombotic thrombocytopenic purpura
• Purtilo syndrome see X-linked lymphoproliferative disease
• PV see polycythemia vera
• pyroglutamic acidemia see glutathione synthetase deficiency
• pyroglutamic aciduria see glutathione synthetase deficiency
• pyruvate kinase deficiency
• radial aplasia-amegakaryocytic thrombocytopenia see thrombocytopenia-absent radius syndrome
• radial aplasia-thrombocytopenia syndrome see thrombocytopenia-absent radius syndrome
• Recurrent polyserositis see familial Mediterranean fever
• Reimann periodic disease see familial Mediterranean fever
• Rendu-Osler-Weber see hereditary hemorrhagic telangiectasia
• Rogers syndrome see thiamine-responsive megaloblastic anemia syndrome
• SCD see sickle cell disease
• SCIDX1 see X-linked severe combined immunodeficiency
• severe susceptibility to EBV infection see X-linked lymphoproliferative disease
• severe susceptibility to infectious mononucleosis see X-linked lymphoproliferative disease
• sickle cell disease
• Sickling disorder due to hemoglobin S see sickle cell disease
• Siegal-Cattan-Mamou disease see familial Mediterranean fever
• sitosterolaemia see sitosterolemia
• sitosterolemia
• spherocytic anemia see hereditary spherocytosis
• spherocytosis, type 1 see hereditary spherocytosis
• systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
• Tangier disease
• TAR syndrome see thrombocytopenia-absent radius syndrome
• telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
• 11q terminal deletion disorder see Jacobsen syndrome
• thalassemia, beta type see beta thalassemia
• thiamine-responsive megaloblastic anemia syndrome
• thrombocytopenia 1 see X-linked thrombocytopenia
• thrombocytopenia-absent radius syndrome
• thrombotic thrombocytopenic purpura
• TRMA see thiamine-responsive megaloblastic anemia syndrome
• TTP see thrombotic thrombocytopenic purpura
• Turner-like syndrome see Noonan syndrome
• Turner syndrome in female with X chromosome see Noonan syndrome
• Turner's phenotype, karyotype normal see Noonan syndrome
• Ullrich-Noonan syndrome see Noonan syndrome
• vascular pseudohemophilia see von Willebrand disease
• veno-occlusive disease and immunodeficiency syndrome see hepatic veno-occlusive disease with immunodeficiency
• VODI see hepatic veno-occlusive disease with immunodeficiency
• von Willebrand disease
• Weber-Osler see hereditary hemorrhagic telangiectasia
• Wiskott-Aldrich syndrome
• Wiskott syndrome see Wiskott-Aldrich syndrome
• Wolff Periodic Disease see familial Mediterranean fever
• X chromosome-linked sideroblastic anemia see X-linked sideroblastic anemia
• X-linked alpha-thalassemia/mental retardation syndrome see alpha thalassemia X-linked intellectual disability syndrome
• X-linked lymphoproliferative disease
• X-linked macrothrombocytopenia see dyserythropoietic anemia and thrombocytopenia
• X-linked severe combined immunodeficiency
• X-linked sideroblastic anemia
• X-linked sideroblastic anemia and ataxia
• X-linked thrombocytopenia
• X-SCID see X-linked severe combined immunodeficiency
• XLMR-hypotonic face syndrome see alpha thalassemia X-linked intellectual disability syndrome
• XLP see X-linked lymphoproliferative disease
• XLSA see X-linked sideroblastic anemia
• XLSA/A see X-linked sideroblastic anemia and ataxia
• XLT see X-linked thrombocytopenia
• XSCID see X-linked severe combined immunodeficiency
• Zinsser-Cole-Engman syndrome see dyskeratosis congenita