Osteopetrosis

Hodgkin’s Lymphoma

Neuroblastoma

Medulloblastoma
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Retinoblastoma
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Aplastic Anemia
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Congenital Dyserythropoietic Anemia
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Fanconi Anemia

Sickle Cell Disease
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Epstein–Barr Virus Susceptibility
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Tay–Sachs Disease

Acute Lymphoblastic Leukemia

Acute Myelogenous Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Lymphoblastic Leukemia

Acute Myelogenous Leukemia (AML)

Chronic Lymphocytic Leukemia (CLL)

Juvenile Chronic Myelogenous Leukemia (JCML)

Juvenile Myelomonocytic Leukemia (JMML)

Refractory Anemia (RA)

Refractory Anemia with Ringed Sideroblasts (RARS)

Refractory Anemia with Excess Blasts (RAEB)

Refractory Anemia with Excess Blasts in Transformation (RAEB-T)

Chronic Myelomonocytic Leukemia (CMML)

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Beta Thalassemia Major (Cooley’s Anemia)

Blackfan-Diamond Anemia

Pure Red Cell Aplasia

Amegakaryocytosis / Congenital Thrombocytopenia

Glanzmann Thrombasthenia

SCID with Adenosine Deaminase Deficiency (ADA-SCID)

SCID which is X-linked

SCID with absence of T & B Cells

SCID with absence of T Cells, Normal B Cells

Omenn Syndrome

Kostmann Syndrome

Ataxia–Telangiectasia

Bare Lymphocyte Syndrome

Common Variable Immunodeficiency

DiGeorge Syndrome

Leukocyte Adhesion Deficiency

Lymphoproliferative Disorders (LPD)

Wiskott–Aldrich Syndrome

Myeloproliferative Disorders

Acute Myelofibrosis

Agnogenic Myeloid Metaplasia (Myelofibrosis)

Polycythemia Vera

Essential Thrombocythemia

Chediak–Higashi Syndrome

Chronic Granulomatous Disease

Neutrophil Actin Deficiency

Reticular Dysgenesis

Multiple Myeloma

Plasma Cell Leukemia

Waldenstrom’s Macroglobulinemia

Cartilage–Hair Hypoplasia

Günther Disease (Congenital Erythropoietic Porphyria)
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Hermansky–Pudlak Syndrome

Pearson’s Syndrome

Shwachman–Diamond Syndrome

Systemic Mastocytosis

Mucopolysaccharidoses (MPS)

Hurler’s Syndrome (MPS–IH)

Scheie Syndrome (MPS–IS)

Hunter’s Syndrome (MPS–II)

Sanfilippo Syndrome (MPS–III)

Morquio Syndrome (MPS–IV)

Maroteaux–Lamy Syndrome (MPS–VI)

Sly Syndrome, Beta–Glucuronidase Deficiency (MPS–VII)

Mucolipidosis II (I–cell Disease)

Adrenoleukodystrophy (ALD) / Adrenomyeloneuropathy (AMN)

Krabbe Disease (Globoid Cell Leukodystrophy)

Metachromatic Leukodystrophy

Pelizaeus–Merzbacher Disease

Gaucher Disease

Niemann–Pick Disease

Sandhoff Disease

Wolman Disease

Lesch–Nyhan Syndrome