Hemoglobin D Disease |
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Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Diamond-Blackfan Anemia 3 |
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Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Intrinsic Factor Deficiency |
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Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
Hemoglobin E Disease |
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Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Diamond-Blackfan Anemia 8 |
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Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia |
OMIM:206100 |
Familial Pseudohyperkalemia |
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Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Dehydrated Hereditary Stomatocytosis |
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Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... |
ORPHA:98870 |
Bone Marrow Failure Syndrome 6 |
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Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Oslam Syndrome |
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Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Increased mean corpuscular volume, Dystonia, Megaloblastic anemia |
OMIM:277410 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Diamond-Blackfan Anemia 6 |
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Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Methylcobalamin Deficiency Type Cble |
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Vomiting, Pancytopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
Majeed Syndrome |
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Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... |
OMIM:609628 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly |
OMIM:615234 |
Diamond-Blackfan Anemia 7 |
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Esophagitis, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Immunodeficiency 96 |
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Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Shwachman-Diamond Syndrome |
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Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... |
ORPHA:811 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
OMIM:611590 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
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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Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
Blackfan-Diamond Anemia |
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Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Refractory Anemia With Excess Blasts |
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Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Thrombocytopenia, Anemia ... |
ORPHA:86839 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec... |
ORPHA:300298 |
Hyperekplexia 2 |
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Gastroesophageal reflux, Exaggerated startle response |
OMIM:614619 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Gastroesophageal reflux, Exaggerated startle response, Blepharospasm, Diarrhea, Limb dystonia, To... |
OMIM:608643 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Diarrhea, Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, ... |
OMIM:618278 |
Hyperekplexia 3 |
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Gastroesophageal reflux, Exaggerated startle response |
OMIM:614618 |
Beta-Thalassemia Intermedia |
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Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... |
ORPHA:231222 |
Dominant Beta-Thalassemia |
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Diarrhea, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentratio... |
ORPHA:231226 |
Beta-Thalassemia Major |
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Diarrhea, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular he... |
ORPHA:231214 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Stiff-Person Syndrome |
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Anemia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Gastroesophageal reflux, Exaggerated startle response |
OMIM:620114 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response, Vomiting |
OMIM:616881 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Gastroesophageal reflux, Exaggerated startle response |
OMIM:608800 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Castleman Disease |
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Decreased mean corpuscular volume, Thrombocytopenia, Intestinal obstruction, Anemia |
ORPHA:160 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Sandhoff Disease |
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Hepatosplenomegaly, Exaggerated startle response, Chronic diarrhea |
OMIM:268800 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Eisenmenger Syndrome |
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Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia |
ORPHA:97214 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Dysphagia |
OMIM:617301 |
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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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response |
OMIM:617864 |
Tay-Sachs Disease |
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Exaggerated startle response, Hepatosplenomegaly, Tremor, Laryngeal dystonia, Dysphagia, Dystonia |
ORPHA:845 |
Plaa-Associated Neurodevelopmental Disorder |
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Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Dysphagia |
OMIM:617527 |
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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Gastroesophageal reflux, Anemia, Exaggerated startle response, Constipation, Dysphagia, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Dysphagia |
OMIM:619522 |