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.
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A-alphalipoprotein Neuropathy see Tangier disease
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A-T see ataxia-telangiectasia
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abetalipoproteinemia
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acanthocytosis see abetalipoproteinemia
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acanthocytosis with neurologic disorder see chorea-acanthocytosis
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aceruloplasminemia
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Aldrich Syndrome see Wiskott-Aldrich syndrome
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alpha High Density Lipoprotein Deficiency Disease see Tangier disease
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Analphalipoproteinemia see Tangier disease
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Anemia, hereditary sideroblastic see X-linked sideroblastic anemia
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Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia
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Angiohemophilia see von Willebrand disease
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ANH1 see X-linked sideroblastic anemia
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APC resistance, Leiden type see factor V Leiden thrombophilia
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Apolipoprotein B deficiency see abetalipoproteinemia
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ataxia-telangiectasia
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ATM see ataxia-telangiectasia
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basal ganglia disease, adult-onset see neuroferritinopathy
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Bassen-Kornzweig Syndrome see abetalipoproteinemia
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Benign paroxysmal peritonitis see familial Mediterranean fever
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beta thalassemia
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Betalipoprotein Deficiency Disease see abetalipoproteinemia
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blue baby syndrome see methemoglobinemia, beta-globin type
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C1 esterase inhibitor deficiency see hereditary angioedema
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C1 inhibitor deficiency see hereditary angioedema
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Central Nervous System Cavernous Hemangioma see cerebral cavernous malformation
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cerebral cavernous malformation
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Cerebroside Lipidosis Syndrome see Gaucher disease
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CHAC see chorea-acanthocytosis
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Cholesterol thesaurismosis see Tangier disease
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chorea-acanthocytosis
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Choreoacanthocytosis see chorea-acanthocytosis
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chromosome 1q21.1 deletion syndrome, 200-KB see thrombocytopenia-absent radius syndrome
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CIT see citrullinemia
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citrullinemia
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Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
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Congenital familial lymphedema see Milroy disease
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Congenital folate malabsorption see hereditary folate malabsorption
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congenital methemoglobinemia see methemoglobinemia, beta-globin type
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Congenital sideroblastic anaemia see X-linked sideroblastic anemia
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Deficiency of glucose-6-phosphate dehydrogenase see glucose-6-phosphate dehydrogenase deficiency
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Deficiency of glutathione synthase see glutathione synthetase deficiency
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Deficiency of glutathione synthetase see glutathione synthetase deficiency
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dysprothrombinemia see prothrombin deficiency
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eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome
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EME see ethylmalonic encephalopathy
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Encephalopathy, petechiae, and ethylmalonic aciduria see ethylmalonic encephalopathy
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EPEMA syndrome see ethylmalonic encephalopathy
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Erythroblastic Anemia see beta thalassemia
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Erythroid 5-aminolevulinate synthase deficiency see X-linked sideroblastic anemia
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ethylmalonic encephalopathy
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Factor II Deficiency see prothrombin deficiency
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factor V Leiden thrombophilia
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familial apoceruloplasmin deficiency see aceruloplasminemia
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Familial Cavernous Hemangioma see cerebral cavernous malformation
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Familial Cavernous Malformation see cerebral cavernous malformation
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Familial Cerebral Cavernous Angioma see cerebral cavernous malformation
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Familial Cerebral Cavernous Malformation see cerebral cavernous malformation
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Familial High Density Lipoprotein Deficiency Disease see Tangier disease
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Familial Hypoalphalipoproteinemia see Tangier disease
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Familial hypobetalipoproteinemia see abetalipoproteinemia
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familial Mediterranean fever
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Familial Thrombotic Thrombocytopenia Purpura see thrombotic thrombocytopenic purpura
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familial Turner syndrome see Noonan syndrome
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familial veno-occlusive disease with immunodeficiency see hepatic veno-occlusive disease with immunodeficiency
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Female Pseudo-Turner Syndrome see Noonan syndrome
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ferritin-related neurodegeneration see neuroferritinopathy
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FMF see familial Mediterranean fever
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Folic acid transport defect see hereditary folate malabsorption
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G6PD Deficiency see glucose-6-phosphate dehydrogenase deficiency
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G6PDD see glucose-6-phosphate dehydrogenase deficiency
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Gaucher disease
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GD see Gaucher disease
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Glucocerebrosidase deficiency see Gaucher disease
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Glucocerebrosidosis see Gaucher disease
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glucose-6-phosphate dehydrogenase deficiency
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Glucosyl cerebroside lipidosis see Gaucher disease
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Glucosylceramidase deficiency see Gaucher disease
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Glucosylceramide beta-glucosidase deficiency see Gaucher disease
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Glucosylceramide lipidosis see Gaucher disease
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glutathione synthetase deficiency
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HAE see hereditary angioedema
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HANE see hereditary angioedema
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HbS disease see sickle cell disease
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HDL Lipoprotein Deficiency Disease see Tangier disease
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hemoglobin M disease see methemoglobinemia, beta-globin type
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Hemoglobin S Disease see sickle cell disease
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Hemoglobinuria, Paroxysmal see paroxysmal nocturnal hemoglobinuria
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hemophilia
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hepatic veno-occlusive disease with immunodeficiency
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hereditary angioedema
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hereditary ceruloplasmin deficiency see aceruloplasminemia
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hereditary ferritinopathy see neuroferritinopathy
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hereditary folate malabsorption
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hereditary hemorrhagic telangiectasia
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Hereditary iron-loading anemia see X-linked sideroblastic anemia
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Hereditary lymphedema type I see Milroy disease
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Hereditary Periodic Fever Syndromes see familial Mediterranean fever
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Hereditary resistance to activated protein C see factor V Leiden thrombophilia
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HHT see hereditary hemorrhagic telangiectasia
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hyperprothrombinemia see prothrombin thrombophilia
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hypoceruloplasminemia see aceruloplasminemia
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Hypoprothrombinemia see prothrombin deficiency
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IMD2 see Wiskott-Aldrich syndrome
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immunodeficiency 2 see Wiskott-Aldrich syndrome
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Intracerebral Cavernous Hemangioma see cerebral cavernous malformation
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Kerasin histiocytosis see Gaucher disease
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Kerasin lipoidosis see Gaucher disease
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Kerasin thesaurismosis see Gaucher disease
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Lipoid histiocytosis (kerasin type) see Gaucher disease
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Lipoprotein Deficiency Disease, HDL, Familial see Tangier disease
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Louis-Bar syndrome see ataxia-telangiectasia
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lymphedema-distichiasis syndrome
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lymphedema with distichiasis see lymphedema-distichiasis syndrome
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3MGA see 3-methylglutaconic aciduria
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Male Turner Syndrome see Noonan syndrome
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Marchiafava-Micheli Syndrome see paroxysmal nocturnal hemoglobinuria
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McLeod neuroacanthocytosis syndrome
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Mediterranean Anemia see beta thalassemia
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Mediterranean Fever, Familial see familial Mediterranean fever
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MEF see familial Mediterranean fever
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methemoglobinemia, beta-globin type
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3-methylglutaconic aciduria
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Microangiopathic hemolytic anemia see thrombotic thrombocytopenic purpura
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Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
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Milroy disease
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Moschkowitz Disease see thrombotic thrombocytopenic purpura
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Neuroacanthocytosis see chorea-acanthocytosis
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neuroferritinopathy
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Nonne-Milroy lymphedema see Milroy disease
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Noonan syndrome
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Osler-Rendu Disease see hereditary hemorrhagic telangiectasia
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Osler-Rendu-Weber disease see hereditary hemorrhagic telangiectasia
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Osler's disease see hereditary hemorrhagic telangiectasia
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5-oxoprolinemia see glutathione synthetase deficiency
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5-oxoprolinuria see glutathione synthetase deficiency
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paroxysmal nocturnal hemoglobinuria
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Periodic Disease see familial Mediterranean fever
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Periodic peritonitis see familial Mediterranean fever
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prothrombin deficiency
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prothrombin thrombophilia
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pseudo-Ullrich-Turner syndrome see Noonan syndrome
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Purpura, Thrombotic Thrombocytopenic see thrombotic thrombocytopenic purpura
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pyroglutamic acidemia see glutathione synthetase deficiency
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pyroglutamic aciduria see glutathione synthetase deficiency
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radial aplasia-amegakaryocytic thrombocytopenia see thrombocytopenia-absent radius syndrome
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Radial aplasia-thrombocytopenia syndrome see thrombocytopenia-absent radius syndrome
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Recurrent polyserositis see familial Mediterranean fever
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Reimann periodic disease see familial Mediterranean fever
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Rendu-Osler-Weber see hereditary hemorrhagic telangiectasia
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Rogers syndrome see thiamine-responsive megaloblastic anemia syndrome
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SCD see sickle cell disease
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SCIDX1 see X-linked severe combined immunodeficiency
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sickle cell disease
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Sickling disorder due to hemoglobin S see sickle cell disease
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Siegal-Cattan-Mamou disease see familial Mediterranean fever
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systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
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Tangier disease
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TAR syndrome see thrombocytopenia-absent radius syndrome
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Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
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thalassemia, beta type see beta thalassemia
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thiamine-responsive megaloblastic anemia syndrome
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thrombocytopenia-absent radius syndrome
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thrombotic thrombocytopenic purpura
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TRMA see thiamine-responsive megaloblastic anemia syndrome
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TTP see thrombotic thrombocytopenic purpura
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Turner-like syndrome see Noonan syndrome
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Turner syndrome in female with X chromosome see Noonan syndrome
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Turner's phenotype, karyotype normal see Noonan syndrome
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Ullrich-Noonan syndrome see Noonan syndrome
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veno-occlusive disease and immunodeficiency syndrome see hepatic veno-occlusive disease with immunodeficiency
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VODI see hepatic veno-occlusive disease with immunodeficiency
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von Willebrand disease
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Weber-Osler see hereditary hemorrhagic telangiectasia
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Wiskott-Aldrich syndrome
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Wolff Periodic Disease see familial Mediterranean fever
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X chromosome-linked sideroblastic anemia see X-linked sideroblastic anemia
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X-linked severe combined immunodeficiency
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X-linked sideroblastic anemia
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X-linked sideroblastic anemia and ataxia
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X-SCID see X-linked severe combined immunodeficiency
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XLSA see X-linked sideroblastic anemia
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XLSA/A see X-linked sideroblastic anemia and ataxia
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XSCID see X-linked severe combined immunodeficiency