Hemoglobin E-Beta-Thalassemia Syndrome |
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Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin D Disease |
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Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Hemoglobin-Delta locus |
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Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
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 |
Hemoglobin H Disease |
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Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Delta-Beta-Thalassemia |
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Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
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Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hemoglobin E Disease |
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Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612926 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612922 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612925 |
Drug-Induced Lupus Erythematosus |
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Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Increased blood urea nitrogen, Schistocytosis, Tremor, Elevated circulating creatinine concentrat... |
OMIM:274150 |
Cyanosis, Transient Neonatal |
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Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Azotemia, Familial |
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Azotemia |
OMIM:109160 |
Diamond-Blackfan Anemia 3 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Sickle Cell Anemia |
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Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
Alpha-Thalassemia |
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Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Beta-Thalassemia |
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Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Interstitial Nephritis, Karyomegalic |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Erythrocytosis, Familial, 6 |
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Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Dehydrated Hereditary Stomatocytosis |
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Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... |
ORPHA:3202 |
Erythrocytosis, Familial, 5 |
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Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Beta-Thalassemia |
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Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... |
ORPHA:848 |
Erythrocytosis, Familial, 4 |
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Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Erythrocytosis, Familial, 7 |
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Polycythemia, Increased hematocrit |
OMIM:617981 |
Polycythemia Vera |
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Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Dopamine Beta-Hydroxylase Deficiency |
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Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Hereditary Methemoglobinemia |
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Methemoglobinemia, Limb dystonia, Athetosis |
ORPHA:621 |
Paroxysmal Nocturnal Hemoglobinuria |
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Increased blood urea nitrogen, Anemia, Leukopenia, Abnormal erythrocyte enzyme level, Decreased s... |
ORPHA:447 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Erythrocytosis, Familial, 8 |
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Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
Uremic Pruritus |
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Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Cockayne Syndrome Type 1 |
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Tremor, Anemia, Increased blood urea nitrogen |
ORPHA:90321 |
Hypermanganesemia With Dystonia 1 |
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Polycythemia, Tremor, Hypermanganesemia, Unconjugated hyperbilirubinemia, Increased total iron bi... |
OMIM:613280 |
Hereditary Renal Hypouricemia |
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Increased blood urea nitrogen, Hypouricemia |
ORPHA:94088 |
Orthostatic Hypotension 1 |
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Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
46,Xy Sex Reversal 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Beta-Thalassemia Intermedia |
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Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Diamond-Blackfan Anemia 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Stiff-Person Syndrome |
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Anemia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Dominant Beta-Thalassemia |
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Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Beta-Thalassemia Major |
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Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Shwachman-Diamond Syndrome 1 |
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Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
Blackfan-Diamond Anemia |
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Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
Lead Poisoning |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo... |
ORPHA:330015 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Thymoma |
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Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |
Goodpasture Syndrome |
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Anemia, Increased blood urea nitrogen |
OMIM:233450 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:301040 |
Tay-Sachs Disease |
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Exaggerated startle response, Laryngeal dystonia, Increased serum beta-hexosaminidase, Tremor, Dy... |
ORPHA:845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Elevated circulating creatine kinase concentration, Exaggerated startle response |
OMIM:253800 |
Sandhoff Disease |
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Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Exaggerated startle response |
ORPHA:438216 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Gm1 Gangliosidosis Type 1 |
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Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
Plaa-Associated Neurodevelopmental Disorder |
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Dystonia, Exaggerated startle response |
ORPHA:521426 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Anemia, Exaggerated startle response, Dystonia, Decreased serum iron |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |