Hemoglobin D Disease |
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Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin H Disease |
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Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Reticuloendotheliosis, X-Linked |
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Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:312500 |
Delta-Beta-Thalassemia |
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Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin E Disease |
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Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Acetophenetidin Sensitivity |
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Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Alpha-Thalassemia |
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Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Congenital Amegakaryocytic Thrombocytopenia |
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Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Methemoglobinemia And Ambiguous Genitalia |
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Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Male pseudohermap... |
OMIM:250790 |
Erythrocytosis, Familial, 3 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Polycythemia Vera |
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Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 4 |
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Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Kimura Disease |
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Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia |
ORPHA:482 |
Sickle Cell Anemia |
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Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Erythrocytosis, Familial, 1 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Diamond-Blackfan Anemia 3 |
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Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Beta-Thalassemia |
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Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcy... |
ORPHA:848 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Absent tonsils, Genital ulcers, Aplasia of the thymus, Lymph node hypoplasia |
OMIM:602450 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Bone Marrow Failure Syndrome 6 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Sternum, Premature Obliteration Of Sutures Of |
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Short sternum, Cryptorchidism |
OMIM:184800 |
Shwachman-Diamond Syndrome 1 |
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Irregular ossification at anterior rib ends, Proximal femoral metaphyseal irregularity, Anterior ... |
OMIM:260400 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Neutrophilia, Abnorm... |
ORPHA:54251 |
Erythrocytosis, Familial, 2 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Leukocyte Adhesion Deficiency, Type Iii |
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Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomegaly, Extramedu... |
OMIM:612840 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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Hypospadias, Microcytic anemia, Short toe, Cryptorchidism, HbH hemoglobin |
ORPHA:98791 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Polycythemia, Methemoglobinemia |
OMIM:250800 |
Beta-Thalassemia Intermedia |
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Leukocytosis, Hypoparathyroidism, Erythroid hyperplasia, Cholelithiasis, Persistence of hemoglobi... |
ORPHA:231222 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Persistence of hemoglo... |
OMIM:612561 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Radial deviation ... |
OMIM:141750 |
Purine Nucleoside Phosphorylase Deficiency |
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Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasi... |
OMIM:613179 |
Dominant Beta-Thalassemia |
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Hypoparathyroidism, Hypochromic microcytic anemia, Bowing of the long bones, Persistence of hemog... |
ORPHA:231226 |
Beta-Thalassemia Major |
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Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microcytic anemia, Bowing of the long bones,... |
ORPHA:231214 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
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Reduced beta/alpha synthesis ratio |
OMIM:609057 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Absent tonsils, Decreased proportion of naive T cells, Lymph node hypoplasia, Decreased proportio... |
ORPHA:276 |
Tempi Syndrome |
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Polycythemia, Increased hematocrit |
ORPHA:284227 |
Multiple Synostoses Syndrome 1 |
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Tarsal synostosis, Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Proximal s... |
OMIM:186500 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Tapered finger, R... |
OMIM:301040 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Abnormality of the male genitalia, Anemia, Abnormal hemoglobin, Ambiguous genitalia, Male pseudoh... |
ORPHA:847 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Blackfan-Diamond Anemia |
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Hypospadias, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased ... |
ORPHA:124 |
Thymoma |
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Prostate neoplasm, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Aplastic anemia |
ORPHA:99867 |
Agammaglobulinemia, X-Linked |
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Epididymitis, Prostatitis, Lymph node hypoplasia |
OMIM:300755 |
Meige Disease |
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Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Duodenal Neuroendocrine Tumor |
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Lymphadenopathy, Iron deficiency anemia, Insulinoma, Increased hematocrit, Elevated circulating g... |
ORPHA:100076 |
Lead Poisoning |
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Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol... |
ORPHA:330015 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Gaisböck Syndrome |
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Increased hematocrit, Elevated plasma cell count, Increased red blood cell count, Increased mean ... |
ORPHA:90041 |
Coffin-Lowry Syndrome |
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Tapered finger, Bifid sternum, Narrow iliac wing, Uterine prolapse, Short metacarpal, Drumstick t... |
OMIM:303600 |