Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Intrinsic Factor Deficiency |
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Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... |
OMIM:616959 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Retinal dysplasia, Gonadal dysgenesis |
OMIM:615041 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Diamond-Blackfan Anemia 3 |
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Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Hemoglobin E Disease |
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Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Thrombocytopenia 5 |
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Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Diamond-Blackfan Anemia 8 |
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Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Dehydrated Hereditary Stomatocytosis |
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Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Retinoschisis 1, X-Linked, Juvenile |
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Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Exudative Vitreoretinopathy 7 |
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Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Squamou... |
OMIM:618849 |
X-Linked Retinal Dysplasia |
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Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
Exudative Vitreoretinopathy 3 |
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Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
Congenital Dyserythropoietic Anemia Type Iii |
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Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilo... |
ORPHA:98870 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia |
OMIM:613839 |
Familial Pseudohyperkalemia |
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Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
Familial Drusen |
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Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
Overhydrated Hereditary Stomatocytosis |
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Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Diamond-Blackfan Anemia 6 |
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Bifid uvula, Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, C... |
OMIM:612561 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
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Increased mean corpuscular volume, Splenomegaly, Gastric varix, Thrombocytopenia, Esophageal varix |
OMIM:620367 |
Bone Marrow Failure Syndrome 3 |
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Pancreatic steatosis, Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglob... |
OMIM:617052 |
Oslam Syndrome |
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Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Abetalipoproteinemia |
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Acanthocytosis, Retinopathy, Retinal degeneration, Ataxia, Fat malabsorption |
OMIM:200100 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... |
OMIM:615234 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Megaloblastic anemia, Lethargy, Spastic ataxia, Increased mean corpuscular volume |
OMIM:277410 |
Sickle Cell Anemia |
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Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... |
ORPHA:232 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
Methylcobalamin Deficiency Type Cble |
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Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Lethargy, Neutropenia |
ORPHA:2169 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia, High palate, Dysphagia, Opti... |
ORPHA:261250 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hepatosplenomegaly, Reticulocytosis, Lethargy, Decreased mean corpuscular volume, Hemolytic anemia |
OMIM:611590 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... |
OMIM:616860 |
Diamond-Blackfan Anemia |
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Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Retinitis Pigmentosa 13 |
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Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Refractory Anemia With Excess Blasts |
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Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... |
ORPHA:86839 |
Diamond-Blackfan Anemia 7 |
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Increased mean corpuscular volume, Esophagitis, Macrocytic anemia, Neutropenia, Cleft palate |
OMIM:612562 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Th... |
OMIM:127550 |
Majeed Syndrome |
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Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Aplastic anemia, Pancreatic hypoplasia, Leukemia, Increased mean corpuscular v... |
ORPHA:811 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Hypogonadism, Azoospermia, Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Aniso... |
ORPHA:300298 |
Immunodeficiency 96 |
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Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Beta-Thalassemia Intermedia |
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Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase... |
ORPHA:231222 |
Trichothiodystrophy 6, Nonphotosensitive |
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Increased HbA2 hemoglobin, Broad-based gait, Decreased mean corpuscular volume |
OMIM:616943 |
Diamond-Blackfan Anemia 1 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Reese Retinal Dysplasia |
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Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Dominant Beta-Thalassemia |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
Beta-Thalassemia Major |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
Castleman Disease |
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Intestinal obstruction, Abnormality of the gastrointestinal tract, Thrombocytopenia, Anemia, Decr... |
ORPHA:160 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
Eisenmenger Syndrome |
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Lethargy, Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |