Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Acute Erythroid Leukemia |
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Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ... |
ORPHA:318 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... |
OMIM:616871 |
Refractory Anemia |
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Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product... |
ORPHA:98826 |
Primary Myelofibrosis |
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Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Bone Marrow Failure Syndrome 1 |
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Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myelodysplasia |
OMIM:614675 |
Unclassified Myelodysplastic Syndrome |
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Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... |
ORPHA:98827 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
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Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia |
OMIM:614743 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Beta-Thalassemia Intermedia |
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Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Bone Marrow Failure Syndrome 2 |
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Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Fanconi Anemia, Complementation Group T |
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Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, De... |
OMIM:617021 |
Hereditary Spherocytosis |
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Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Osteopetrosis, Autosomal Recessive 2 |
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Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Aplastic Anemia |
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Aplastic anemia, Bone marrow hypocellularity |
OMIM:609135 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Bone Marrow Failure Syndrome 6 |
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Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Amed Syndrome, Digenic |
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Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc... |
OMIM:619151 |
Beta-Thalassemia Major |
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Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Fanconi Anemia, Complementation Group D1 |
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Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity |
OMIM:605724 |
Nut Midline Carcinoma |
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Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Neur... |
ORPHA:443167 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
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Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellu... |
OMIM:614742 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
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Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma of the tongue |
OMIM:613988 |
Osteopetrosis, Autosomal Recessive 5 |
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Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
Osteopetrosis, Autosomal Recessive 3 |
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Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Deafness-Lymphedema-Leukemia Syndrome |
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Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Fanconi Anemia, Complementation Group V |
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Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Acute Panmyelosis With Myelofibrosis |
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Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Refractory Anemia With Excess Blasts |
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Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... |
ORPHA:86839 |
Classic Hodgkin Lymphoma |
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Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity |
ORPHA:391 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Pancytopenia, Myelodysplasia, Bone marrow hypocellularity, Abnormally low T cell receptor excisio... |
OMIM:619767 |
Bone Marrow Failure Syndrome 4 |
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Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:618116 |
Ghosal Hematodiaphyseal Dysplasia |
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Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
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Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He... |
ORPHA:210136 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
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Bone marrow hypocellularity |
OMIM:618674 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Isovaleric Acidemia |
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Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
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Pancytopenia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnormally low ... |
OMIM:617341 |
Fgfr2-Related Bent Bone Dysplasia |
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Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Griscelli Syndrome |
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Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Myelodysplasia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular... |
OMIM:127550 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... |
ORPHA:3261 |
Fanconi Anemia, Complementation Group J |
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Bone marrow hypocellularity |
OMIM:609054 |
Felty Syndrome |
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Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutr... |
ORPHA:47612 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Hoyeraal-Hreidarsson Syndrome |
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Abnormal leukocyte morphology, Anemia, Neoplasm, Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:3322 |
Familial Adenomatous Polyposis 1 |
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Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Adult-Onset Still Disease |
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Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... |
ORPHA:829 |
Tarp Syndrome |
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Extramedullary hematopoiesis |
ORPHA:2886 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
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Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:616553 |
Gardner Syndrome |
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Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Leukopenia, Bone marrow hypocellularity |
OMIM:615190 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
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Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow h... |
ORPHA:508542 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop... |
OMIM:613989 |
Diamond-Blackfan Anemia 11 |
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Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Pgm3-Cdg |
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Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Familial Adenomatous Polyposis |
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Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Fanconi Anemia, Complementation Group R |
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Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Schimke Immuno-Osseous Dysplasia |
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Non-Hodgkin lymphoma, Lymphoproliferative disorder, Thrombocytopenia, Decreased proportion of nai... |
ORPHA:1830 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Osteopetrosis, Autosomal Dominant 2 |
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Bone marrow hypocellularity |
OMIM:166600 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Fanconi Anemia, Complementation Group C |
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Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227645 |
Fanconi Anemia, Complementation Group Q |
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Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
Mucopolysaccharidosis-Plus Syndrome |
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Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Macrovesicular hepatic steatosis, Bone marrow hyp... |
OMIM:617303 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal h... |
OMIM:615688 |
3-Methylglutaconic Aciduria Type 7 |
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Elevated hepatic transaminase, Bone marrow hypocellularity, Infection associated neutropenia, Neu... |
ORPHA:445038 |
Legionnaires Disease |
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Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia |
ORPHA:549 |
Dyskeratosis Congenita, X-Linked |
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Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodg... |
OMIM:305000 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613990 |
Dyskeratosis Congenita |
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Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal... |
ORPHA:1775 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
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Bone marrow hypocellularity |
OMIM:616353 |
Fanconi Anemia, Complementation Group D2 |
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Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227646 |
Fanconi Anemia, Complementation Group F |
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Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:603467 |
Mccune-Albright Syndrome |
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Pancytopenia, Cutaneous myxoma, Hepatitis, Cholestasis, Breast carcinoma, Hepatocellular adenoma,... |
ORPHA:562 |
Pearson Syndrome |
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Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Splenomegaly, Macrono... |
ORPHA:699 |
Revesz Syndrome |
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Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
Camurati-Engelmann Disease |
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Bone marrow hypocellularity, Anemia |
OMIM:131300 |
Osteopetrosis With Renal Tubular Acidosis |
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Hepatomegaly, Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Thro... |
ORPHA:2785 |
Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Anemia |
OMIM:614083 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... |
ORPHA:2968 |