ACTUALIZACIÓN MÉDICO-CONTINUADA EN GENÉTICA APLICADA ► Blood/lymphatic system - Genetics Home Reference [NUEVO CAPÍTULO MÉDICO 2016]

Blood/lymphatic system - Genetics Home Reference

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.

• 5-oxoprolinemia see glutathione synthetase deficiency
• 5-oxoprolinuria see glutathione synthetase deficiency
• 5q minus syndrome
• 8p11 myeloproliferative syndrome
• 11q deletion disorder see Jacobsen syndrome
• 11q deletion syndrome see Jacobsen syndrome
• 11q terminal deletion disorder see Jacobsen syndrome
• 11q23 deletion disorder see Jacobsen syndrome
• 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 febrile mucocutaneous lymph node syndrome see Kawasaki disease
• acute myelogenous leukemia with normal karyotype see cytogenetically normal acute myeloid leukemia
• acute promyelocytic leukemia
• ADA2 deficiency see adenosine deaminase 2 deficiency
• adenosine deaminase 2 deficiency
• 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, hypochromic microcytic, with defect in iron metabolism see iron-refractory iron deficiency 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
• autosomal recessive congenital methemoglobinemia
• basal ganglia disease, adult-onset see neuroferritinopathy
• Bassen-Kornzweig Syndrome see abetalipoproteinemia
• BDA see Diamond-Blackfan anemia
• BDPLT4 see gray platelet syndrome
• 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
• bleeding disorder, platelet-type, 4 see gray platelet syndrome
• blue baby syndrome see methemoglobinemia, beta-globin type
• C1 esterase inhibitor deficiency see hereditary angioedema
• C1 inhibitor deficiency see hereditary angioedema
• CBF acute myeloid leukemia see core binding factor acute myeloid leukemia
• CBF-AML see core binding factor acute myeloid leukemia
• 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
• childhood-onset polyarteritis nodosa see adenosine deaminase 2 deficiency
• Cholesterol thesaurismosis see Tangier disease
• chorea-acanthocytosis
• choreoacanthocytosis see chorea-acanthocytosis
• chromosome 1q21.1 deletion syndrome, 200-KB see thrombocytopenia-absent radius syndrome
• chromosome 5q deletion syndrome see 5q minus syndrome
• chronic congenital agenerative anemia see Diamond-Blackfan anemia
• chronic familial methemoglobin reductase deficiency see autosomal recessive congenital methemoglobinemia
• 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
• classic distal renal tubular acidosis see SLC4A1-associated distal renal tubular acidosis
• clonal eosinophilia with chronic myeloproliferative disorder see PDGFRB-associated chronic eosinophilic leukemia
• clopidogrel resistance
• CN-AML see cytogenetically normal acute myeloid leukemia
• complete LCAT deficiency
• congenital afibrinogenemia
• Congenital Antithrombin III Deficiency see hereditary antithrombin deficiency
• Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
• congenital defect of folate absorption see hereditary folate malabsorption
• 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 methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency see autosomal recessive congenital methemoglobinemia
• congenital NADH-methemoglobin reductase deficiency see autosomal recessive congenital methemoglobinemia
• congenital prekallikrein deficiency see prekallikrein deficiency
• 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
• congenital Stuart factor deficiency see factor X deficiency
• core binding factor acute myeloid leukemia
• coumadin sensitivity see warfarin sensitivity
• coumarin resistance see warfarin resistance
• cyclic neutropenia
• CYP2C19-related poor drug metabolism see clopidogrel resistance
• cytochrome b5 reductase deficiency see autosomal recessive congenital methemoglobinemia
• cytogenetically normal acute myeloid leukemia
• DADA2 see adenosine deaminase 2 deficiency
• DBA see Diamond-Blackfan anemia
• defect of enterocyte intrinsic factor receptor see Imerslund-Gräsbeck syndrome
• deficiency, Laki-Lorand factor see factor XIII deficiency
• deficiency of ADA2 see adenosine deaminase 2 deficiency
• deficiency of cytochrome-b5 reductase see autosomal recessive congenital methemoglobinemia
• deficiency of factor XIII see factor XIII deficiency
• deficiency of ferroxidase see aceruloplasminemia
• 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
• deficiency of glycoprotein complex IIb-IIIa see Glanzmann thrombasthenia
• deficiency of phosphotriose isomerase see triosephosphate isomerase deficiency
• deficiency of platelet fibrinogen receptor see Glanzmann thrombasthenia
• deficient alpha granule syndrome see gray platelet syndrome
• Diamond-Blackfan anemia
• diaphorase deficiency see autosomal recessive congenital methemoglobinemia
• diaphyseal dysplasia associated with anemia see Ghosal hematodiaphyseal dysplasia
• distichiasis-lymphedema syndrome see lymphedema-distichiasis syndrome
• 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 seehypermanganesemia 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
• enterocyte cobalamin malabsorption see Imerslund-Gräsbeck syndrome
• eosinophil peroxidase deficiency
• EPEMA syndrome see ethylmalonic encephalopathy
• Epstein-Barr virus-induced lymphoproliferative disease in males see X-linked lymphoproliferative disease
• EPXD see eosinophil peroxidase deficiency
• 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
• F10 deficiency see factor X deficiency
• FA see Fanconi anemia
• factor II deficiency see prothrombin deficiency
• factor V deficiency
• factor V Leiden thrombophilia
• factor X deficiency
• factor XIII deficiency
• 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 LCAT deficiency see complete LCAT deficiency
• familial lecithin-cholesterol acyltransferase deficiency see complete LCAT deficiency
• 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
• fibrin stabilizing factor deficiency see factor XIII deficiency
• FIGLU-uria see glutamate formiminotransferase deficiency
• FLD see complete LCAT deficiency
• Fletcher factor deficiency see prekallikrein deficiency
• Fletcher trait see prekallikrein 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
• GATA-1-related thrombocytopenia with dyserythropoiesis see dyserythropoietic anemia and thrombocytopenia
• GATA1-related cytopenia see dyserythropoietic anemia and thrombocytopenia
• GATA1-related X-linked cytopenia see dyserythropoietic anemia and thrombocytopenia
• Gaucher disease
• GD see Gaucher disease
• generalized lymphatic dysplasia see Hennekam syndrome
• GHDD see Ghosal hematodiaphyseal dysplasia
• Ghosal hematodiaphyseal dysplasia
• Glanzmann thrombasthenia
• glucocerebrosidase deficiency see Gaucher disease
• glucocerebrosidosis see Gaucher disease
• glucose-6-phosphate dehydrogenase deficiency
• glucose phosphate isomerase 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
• glycoprotein IIb/IIIa defect see Glanzmann thrombasthenia
• GPI deficiency see glucose phosphate isomerase deficiency
• GPS see gray platelet syndrome
• gray platelet syndrome
• grey platelet syndrome see gray platelet syndrome
• 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
• Hennekam syndrome
• 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 hemorrhagic thrombasthenia see Glanzmann thrombasthenia
• Hereditary iron-loading anemia see X-linked sideroblastic anemia
• hereditary lymphedema II see Meige disease
• hereditary lymphedema type I see Milroy disease
• hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency seetriosephosphate isomerase deficiency
• Hereditary resistance to activated protein C see factor V Leiden thrombophilia
• hereditary spherocytosis
• hereditary thrombasthenia see Glanzmann thrombasthenia
• 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-lymphadenopathy plus syndrome
• histiocytosis X see Langerhans cell histiocytosis
• HMDPC see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• 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
• hypochromic microcytic anemia with iron overload
• hypoplastic congenital anemia see Diamond-Blackfan anemia
• hypoprothrombinemia see prothrombin deficiency
• idiopathic myelofibrosis see primary myelofibrosis
• IMD2 see Wiskott-Aldrich syndrome
• Imerslund-Gräsbeck syndrome
• immunodeficiency 2 see Wiskott-Aldrich syndrome
• inherited erythroblastopenia see Diamond-Blackfan anemia
• intestinal lymphagiectasia-lymphedema-mental retardation syndrome see Hennekam syndrome
• intracerebral cavernous hemangioma see cerebral cavernous malformation
• IRIDA see iron-refractory iron deficiency anemia
• iron-handling disorder, hereditary see iron-refractory iron deficiency anemia
• iron-refractory iron deficiency anemia
• Jacobsen syndrome
• juvenile pernicious anemia with proteinuria due to selective intestinal malabsorption of vitamin B12 seeImerslund-Gräsbeck 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
• late-onset lymphedema see Meige disease
• LCAT deficiency see complete LCAT deficiency
• LCH see Langerhans cell histiocytosis
• lecithin acyltransferase deficiency see complete LCAT deficiency
• lecithin:cholesterol acyltransferase deficiency see complete LCAT deficiency
• leukemia, acute promyelocytic see acute promyelocytic leukemia
• lipoid histiocytosis (kerasin type) see Gaucher disease
• Lipoprotein Deficiency Disease, HDL, Familial see Tangier disease
• LMPH2 see Meige disease
• Louis-Bar syndrome see ataxia-telangiectasia
• lymphangioleiomyomatosis
• lymphangiomyomatosis see lymphangioleiomyomatosis
• lymphedema-distichiasis syndrome
• lymphedema-lymphangiectasia-intellectual disability syndrome see Hennekam syndrome
• lymphedema praecox see Meige disease
• lymphedema with distichiasis see lymphedema-distichiasis syndrome
• M-CM see megalencephaly-capillary malformation syndrome
• M3 ANLL see acute promyelocytic leukemia
• macrocephaly-capillary malformation syndrome see megalencephaly-capillary malformation syndrome
• macrocephaly cutis marmorata telangiectatica congenita see megalencephaly-capillary malformation syndrome
• macroglobulinemia of Waldenstrom see Waldenström macroglobulinemia
• Majeed syndrome
• Male Turner Syndrome see Noonan syndrome
• Marchiafava-Micheli Syndrome see paroxysmal nocturnal hemoglobinuria
• MCAP see megalencephaly-capillary malformation syndrome
• McLeod neuroacanthocytosis syndrome
• MCMTC see megalencephaly-capillary malformation syndrome
• Mediterranean anemia see beta thalassemia
• MEF see familial Mediterranean fever
• megalencephaly-capillary malformation syndrome
• megalencephaly cutis marmorata telangiectatica congenita see megalencephaly-capillary malformation syndrome
• megaloblastic anemia 1 see Imerslund-Gräsbeck syndrome
• Meige disease
• methemoglobinemia, beta-globin type
• methylmalonic acidemia with homocystinuria
• MIC-CAP syndrome see microcephaly-capillary malformation syndrome
• Microangiopathic hemolytic anemia see thrombotic thrombocytopenic purpura
• microcephaly-capillary malformation syndrome
• microcytemia, beta type see beta thalassemia
• microcytic anemia and hepatic iron overload see hypochromic microcytic anemia with iron overload
• microcytic anemia with liver iron overload see hypochromic microcytic anemia with iron overload
• Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
• Milroy disease
• Moschkowitz Disease see thrombotic thrombocytopenic purpura
• mucocutaneous lymph node syndrome see Kawasaki disease
• myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality see 5q minus syndrome
• myelodysplastic syndrome with 5q deletion see 5q minus syndrome
• myelofibrosis with myeloid metaplasia see primary myelofibrosis
• myeloid and lymphoid neoplasms with FGFR1 abnormalities see 8p11 myeloproliferative syndrome
• myeloid leukemia, acute, M3 see acute promyelocytic leukemia
• myeloid metaplasia see primary myelofibrosis
• MYH9-related disorder
• MYH9RD see MYH9-related disorder
• NADH-CYB5R deficiency see autosomal recessive congenital methemoglobinemia
• NADH-cytochrome b5 reductase deficiency see autosomal recessive congenital methemoglobinemia
• NBIA3 see neuroferritinopathy
• neurodegeneration with brain iron accumulation 3 see neuroferritinopathy
• neuroferritinopathy
• NK-AML see cytogenetically normal acute myeloid leukemia
• 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
• nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency see glucose phosphate isomerase deficiency
• Noonan syndrome
• normal karyotype acute myeloid leukemia see cytogenetically normal acute myeloid leukemia
• Norum disease see complete LCAT deficiency
• Osler hemorrhagic telangiectasia syndrome see hereditary hemorrhagic telangiectasia
• 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
• parahemophilia see factor V deficiency
• parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease seehypermanganesemia with dystonia, polycythemia, and cirrhosis
• paroxysmal nocturnal hemoglobinuria
• PDGFRA-associated chronic eosinophilic leukemia
• PDGFRB-associated chronic eosinophilic leukemia
• Pearson marrow-pancreas syndrome
• periodic neutropenia see cyclic neutropenia
• peroxidase and phospholipid deficiency in eosinophils see eosinophil peroxidase deficiency
• 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
• PKK deficiency see prekallikrein deficiency
• plant sterol storage disease see sitosterolemia
• platelet alpha granule deficiency see gray platelet syndrome
• platelet fibrinogen receptor deficiency see Glanzmann thrombasthenia
• platelet granule defect see gray platelet syndrome
• polycythemia vera
• poor metabolism of clopidogrel see clopidogrel resistance
• poor metabolism of coumarin see warfarin resistance
• poor metabolism of thiopurines see thiopurine S-methyltransferase deficiency
• prekallikrein deficiency
• Presentey anomaly see eosinophil peroxidase deficiency
• 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
• refractory macrocytic anemia due to 5q deletion see 5q minus syndrome
• Reimann periodic disease see familial Mediterranean fever
• renal tubular acidosis type I see SLC4A1-associated distal renal tubular acidosis
• Rendu-Osler-Weber see hereditary hemorrhagic telangiectasia
• resistance to clopidogrel see clopidogrel resistance
• Rogers syndrome see thiamine-responsive megaloblastic anemia syndrome
• RTA, classic type see SLC4A1-associated distal renal tubular acidosis
• 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
• SLC4A1-associated distal renal tubular acidosis
• SLC29A3 disorder see histiocytosis-lymphadenopathy plus syndrome
• SLC29A3 spectrum disorder see histiocytosis-lymphadenopathy plus syndrome
• Sneddon syndrome see adenosine deaminase 2 deficiency
• spherocytic anemia see hereditary spherocytosis
• spherocytosis, type 1 see hereditary spherocytosis
• stem cell leukemia/lymphoma see 8p11 myeloproliferative syndrome
• Stormorken syndrome
• Stuart-Prower factor deficiency see factor X deficiency
• systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
• Tangier disease
• TAR syndrome see thrombocytopenia-absent radius syndrome
• TC deficiency see transcobalamin deficiency
• TC II deficiency see transcobalamin deficiency
• TCN2 deficiency see transcobalamin deficiency
• telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
• thalassemia, beta type see beta thalassemia
• thiamine-responsive megaloblastic anemia syndrome
• thiopurine S-methyltransferase deficiency
• thrombocytopathy, asplenia, and miosis see Stormorken syndrome
• thrombocytopenia 1 see X-linked thrombocytopenia
• thrombocytopenia-absent radius syndrome
• thrombotic thrombocytopenic purpura
• TPI deficiency see triosephosphate isomerase deficiency
• TPID see triosephosphate isomerase deficiency
• TPMT deficiency see thiopurine S-methyltransferase deficiency
• transcobalamin deficiency
• triose phosphate isomerase deficiency see triosephosphate isomerase deficiency
• triosephosphate isomerase deficiency
• 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
• vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA mutase and homocysteine:methyltetrahydrofolate methyltransferase see methylmalonic acidemia with homocystinuria
• vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA mutase and methionine synthase activities see methylmalonic acidemia with homocystinuria
• VODI see hepatic veno-occlusive disease with immunodeficiency
• von Willebrand disease
• Waldenström macroglobulinemia
• warfarin resistance
• warfarin sensitivity
• Weber-Osler see hereditary hemorrhagic telangiectasia
• Wiskott-Aldrich syndrome
• Wiskott syndrome see Wiskott-Aldrich syndrome
• WM see Waldenström macroglobulinemia
• 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