Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Placental Insufficiency |
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Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord blood vessel morphology, Abnorma... |
ORPHA:439167 |
Myeloproliferative Syndrome, Transient |
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Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Thrombocytopenia 2 |
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Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Iron Overload In Africa |
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Elevated transferrin saturation |
OMIM:601195 |
Acute Myelomonocytic Leukemia |
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Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
X-Linked Sideroblastic Anemia |
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Abnormality of iron homeostasis, Anemia, Pallor, Splenomegaly |
ORPHA:75563 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Eosinophilia, Familial |
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Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Hemochromatosis, Type 3 |
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Increased circulating ferritin concentration, Lymphopenia, Purpura, Increased serum iron, Neutrop... |
OMIM:604250 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Small placenta |
ORPHA:73272 |
Silver-Russell Syndrome Due To A Point Mutation |
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Small placenta, Oligohydramnios |
ORPHA:397590 |
Immunodeficiency 69 |
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Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Beta-Thalassemia |
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Abnormal hemoglobin, Splenomegaly, Pallor, Abnormality of iron homeostasis, Microcytic anemia, Sk... |
ORPHA:848 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Polyhydramnios, Umbilical hernia, Large placenta |
ORPHA:254534 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Gracile Syndrome |
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Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron |
OMIM:603358 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Hyperbilirubinemia, Pallor, Anisocytosis, Poikilocytosis, Incr... |
ORPHA:98870 |
Juvenile Temporal Arteritis |
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Eosinophilia, Leukocytosis |
ORPHA:26137 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Hemochromatosis, Type 2B |
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Increased circulating ferritin concentration, Splenomegaly, Increased serum iron, Anemia, Elevate... |
OMIM:613313 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis |
OMIM:618795 |
Chronic Myeloid Leukemia |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Fetal Akinesia Deformation Sequence 1 |
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Fetal akinesia sequence, Short umbilical cord, Small placenta, Polyhydramnios, Stillbirth, Premat... |
OMIM:208150 |
Hemochromatosis Type 2 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Beta-Thalassemia Intermedia |
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Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Polycythemia Vera |
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Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Irida Syndrome |
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Pallor, Decreased circulating copper concentration |
ORPHA:209981 |
Hemochromatosis, Neonatal |
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Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron |
OMIM:231100 |
Primary Myelofibrosis |
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Petechiae, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepatosplenomegaly, ... |
ORPHA:824 |
Neu-Laxova Syndrome 1 |
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Short umbilical cord, Hydranencephaly, Small placenta, Polyhydramnios, Spina bifida, Stillbirth, ... |
OMIM:256520 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
Sickle Cell Anemia |
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Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Decreased mean corpuscular volume, Pallor, Anisocytosis, Decreased serum iron, Poikilocytosis, El... |
OMIM:616959 |
Refractory Anemia With Excess Blasts |
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Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, A... |
ORPHA:86839 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... |
OMIM:616278 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Restrictive Dermopathy |
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Short umbilical cord, Small placenta, Polyhydramnios, Premature delivery because of cervical insu... |
ORPHA:1662 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Polyhydramnios, Umbilical hernia, Large placenta |
ORPHA:254528 |
Leukocyte Adhesion Deficiency, Type Iii |
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Petechiae, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Greenberg Dysplasia |
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Echogenic fetal bowel, Hydrops fetalis, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios... |
OMIM:215140 |
Psoriasis 14, Pustular |
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Erythema, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
OMIM:614204 |
Aceruloplasminemia |
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Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Kagami-Ogata Syndrome |
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Polyhydramnios, Premature birth, Large placenta |
ORPHA:254519 |
Mosaic Trisomy 16 |
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Single umbilical artery, Preeclampsia, Maternal diabetes, Premature birth, Large placenta |
ORPHA:1708 |
Trichohepatoenteric Syndrome 1 |
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Pulmonic stenosis, Abnormalities of placenta or umbilical cord, Polyhydramnios, Aortic regurgitat... |
OMIM:222470 |
Gracile Syndrome |
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Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... |
ORPHA:53693 |
Dominant Beta-Thalassemia |
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Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Hypermanganesemia With Dystonia 1 |
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Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirub... |
OMIM:613280 |
Beta-Thalassemia Major |
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Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Restrictive Dermopathy 1 |
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Premature rupture of membranes, Short umbilical cord, Neonatal death, Spontaneous chorioamniotic ... |
OMIM:275210 |
Colchicine Poisoning |
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Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... |
ORPHA:31824 |
Meckel Syndrome, Type 1 |
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Single umbilical artery, Anencephaly, Oligohydramnios, Occipital encephalocele, Breech presentati... |
OMIM:249000 |
Leukocyte Adhesion Deficiency, Type I |
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Skin ulcer, Elevated circulating C-reactive protein concentration, Rectal abscess, Leukocytosis |
OMIM:116920 |
Hereditary Chronic Pancreatitis |
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Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:676 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:465508 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hypertrophic cardiomyopathy, Polyhydramnios, Spinal dysraphism, Pulmonary arterial hypertension, ... |
ORPHA:96334 |
Beckwith-Wiedemann Syndrome |
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Subchorionic septal cyst, Polyhydramnios, Umbilical hernia, Hypertrophic cardiomyopathy, Prematur... |
ORPHA:116 |
Urachal Cyst |
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Erythema, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:488 |
Syndromic Diarrhea |
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Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Dry skin, Increased mean platelet volume, Th... |
ORPHA:84064 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Decreased circulating ferritin concentration, Splenomegaly, Polycythemia, Abnormal transferrin sa... |
ORPHA:309854 |
Paroxysmal Nocturnal Hemoglobinuria |
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Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De... |
ORPHA:447 |
Lethal Congenital Contracture Syndrome 10 |
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Oligohydramnios, Hydrops fetalis, Fetal akinesia sequence |
OMIM:617022 |
Nevus Comedonicus Syndrome |
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Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
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Pulmonic stenosis |
OMIM:614262 |
Nevus Comedonicus |
|
|
OMIM:617025 |