Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
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Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... |
OMIM:206000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Decreased mean corpuscular volume, Anemia, Hypochromia |
OMIM:205950 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Decreased mean corpuscular volume, Anemia, Hypochromia |
OMIM:206100 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Diamond-Blackfan Anemia 3 |
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Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... |
OMIM:610629 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... |
OMIM:619041 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... |
OMIM:616689 |
Intrinsic Factor Deficiency |
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Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:261000 |
Hemoglobin E Disease |
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Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Sickle Cell Anemia |
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Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... |
ORPHA:232 |
Diamond-Blackfan Anemia 8 |
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Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Familial Pseudohyperkalemia |
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Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis |
ORPHA:90044 |
Dehydrated Hereditary Stomatocytosis |
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Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... |
ORPHA:3202 |
Overhydrated Hereditary Stomatocytosis |
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Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... |
ORPHA:3203 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Poikilocytosis, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:615234 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anisocytosis, Anemia, Increased mean corpuscular volume, Melena, Abnormal erythrocyte morphology,... |
ORPHA:98870 |
Bone Marrow Failure Syndrome 6 |
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Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Oslam Syndrome |
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Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Increased mean corpuscular volume, Megaloblastic anemia, Dystonia |
OMIM:277410 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612561 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Decreased mean cor... |
OMIM:616860 |
Methylcobalamin Deficiency Type Cble |
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Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia, Vomiting |
ORPHA:2169 |
Majeed Syndrome |
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Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Diamond-Blackfan Anemia 7 |
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Neutropenia, Esophagitis, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612562 |
Shwachman-Diamond Syndrome |
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Pancytopenia, Exocrine pancreatic insufficiency, Leukopenia, Normocytic anemia, Leukemia, Impaire... |
ORPHA:811 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume |
OMIM:611590 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Thrombocytopenia, Dysphagia |
ORPHA:261250 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis |
OMIM:616959 |
Blackfan-Diamond Anemia |
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Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... |
ORPHA:124 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Hepatosplenomegaly, Anemia, Anisopoikilocytosis, Dysplastic erythropoesis, Reticulocytopenia, Dec... |
ORPHA:300298 |
Refractory Anemia With Excess Blasts |
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Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemia of inadequate prod... |
ORPHA:86839 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Dystonia, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic ane... |
OMIM:618278 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Dominant Beta-Thalassemia |
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Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... |
ORPHA:231226 |
Beta-Thalassemia Major |
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Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Hypochromi... |
ORPHA:231214 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Beta-Thalassemia Intermedia |
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Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Erythroid hyperplasia,... |
ORPHA:231222 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Oculogyric crisis, Constipation, Blepharospasm, Gastroesophageal reflux, Athetosis, Limb dystonia... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Stiff-Person Syndrome |
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Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Castleman Disease |
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Decreased mean corpuscular volume, Anemia, Intestinal obstruction, Thrombocytopenia |
ORPHA:160 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
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 |
Sandhoff Disease |
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Hepatosplenomegaly, Chronic diarrhea, Exaggerated startle response |
OMIM:268800 |
Eisenmenger Syndrome |
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Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Glycine Encephalopathy With Normal Serum Glycine |
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Dysphagia, Exaggerated startle response |
OMIM:617301 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Exaggerated startle response |
ORPHA:438216 |
Tay-Sachs Disease |
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Dystonia, Laryngeal dystonia, Dysphagia, Exaggerated startle response, Tremor |
ORPHA:845 |
Plaa-Associated Neurodevelopmental Disorder |
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Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response |
ORPHA:521426 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Dysphagia, Exaggerated startle response |
OMIM:617527 |
Gm1 Gangliosidosis Type 1 |
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Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Dystonia, Constipation, Gastroesophageal reflux, Anemia, Dysphagia, Exaggerated startle response |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Dysphagia, Exaggerated startle response |
OMIM:619522 |