Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Diamond-Blackfan Anemia 3 |
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Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin E Disease |
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Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Intrinsic Factor Deficiency |
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Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
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 |
Dehydrated Hereditary Stomatocytosis 2 |
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Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
Thrombocytopenia 5 |
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Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Hemoglobin H Disease |
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HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
Delta-Beta-Thalassemia |
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Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Diamond-Blackfan Anemia 8 |
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Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Acetophenetidin Sensitivity |
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Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:206100 |
Familial Pseudohyperkalemia |
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Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Bone Marrow Failure Syndrome 6 |
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Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
Overhydrated Hereditary Stomatocytosis |
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Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
Dehydrated Hereditary Stomatocytosis |
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Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Oslam Syndrome |
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Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Congenital Amegakaryocytic Thrombocytopenia |
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Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Elliptocytosis 3 |
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Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume |
OMIM:617948 |
Overhydrated Hereditary Stomatocytosis |
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Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia |
OMIM:185000 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... |
OMIM:617021 |
Diamond-Blackfan Anemia 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
Cyanosis, Transient Neonatal |
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Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Sickle Cell Anemia |
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Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... |
OMIM:616860 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul... |
OMIM:615234 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Increased mean corpuscular volume, Megaloblastic anemia, Dystonia |
OMIM:277410 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
Majeed Syndrome |
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Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... |
OMIM:609628 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia |
ORPHA:2169 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
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Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly |
OMIM:620367 |
Immunodeficiency 96 |
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Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... |
OMIM:617052 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
Diamond-Blackfan Anemia 7 |
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Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612562 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... |
OMIM:127550 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Polycythemia, Tremor, Opisthotonus, Methemoglobinemia |
OMIM:250800 |
Refractory Anemia With Excess Blasts |
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Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec... |
ORPHA:300298 |
Shwachman-Diamond Syndrome |
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Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... |
ORPHA:811 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Beta-Thalassemia Intermedia |
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Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... |
ORPHA:231222 |
Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia |
ORPHA:848 |
Hereditary Methemoglobinemia |
|
Athetosis, Limb dystonia, Methemoglobinemia |
ORPHA:621 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... |
ORPHA:231214 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Dystonia... |
OMIM:618278 |
Stiff-Person Syndrome |
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Opisthotonus, Anemia, Exaggerated startle response |
OMIM:184850 |
Ziegler-Huang Syndrome |
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Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Castleman Disease |
|
Thrombocytopenia, Anemia, Decreased mean corpuscular volume |
ORPHA:160 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... |
OMIM:608643 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:97214 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Sandhoff Disease |
|
Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Thrombocytopenia, Exaggerated startle response |
OMIM:620423 |
Tay-Sachs Disease |
|
Tremor, Laryngeal dystonia, Dystonia, Exaggerated startle response |
ORPHA:845 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Alkaptonuria |
|
Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Anemia, Exaggerated startle response |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |