Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
Hemoglobin E Disease |
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Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Intrinsic Factor Deficiency |
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Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Thrombocytopenia 5 |
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B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Familial Pseudohyperkalemia |
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Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Diamond-Blackfan Anemia 6 |
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Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Stomatocytosis, Increased mean cor... |
OMIM:185000 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Oslam Syndrome |
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Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:613839 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatomegaly, Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, ... |
OMIM:616860 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Majeed Syndrome |
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Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Megaloblastic anemia, Increased mean corpuscular volume, Dystonia |
OMIM:277410 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi... |
OMIM:617052 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... |
OMIM:612562 |
Methylcobalamin Deficiency Type Cble |
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Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Refractory Anemia With Excess Blasts |
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Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
16Q24.3 Microdeletion Syndrome |
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Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Increased mean corpusc... |
ORPHA:261250 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Immunodeficiency 96 |
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Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Beta-Thalassemia Intermedia |
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Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Beta-Thalassemia Major |
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Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Sickle Cell Disease |
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Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Ret... |
OMIM:603903 |
Sandhoff Disease, Infantile Form |
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Cherry red spot of the macula, Exaggerated startle response, Mitral valve prolapse, Hepatosplenom... |
ORPHA:309155 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Eisenmenger Syndrome |
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Hepatomegaly, Ventricular septal defect, Hypochromic microcytic anemia, Aortopulmonary window, Ab... |
ORPHA:97214 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Gm2 Gangliosidosis, Ab Variant |
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Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Retinal detachment, Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Myocardi... |
OMIM:253800 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Sandhoff Disease |
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Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of ... |
OMIM:268800 |
Stiff-Person Syndrome |
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Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Castleman Disease |
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Restrictive cardiomyopathy, Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
Tay-Sachs Disease |
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Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Atrial septal defect, Exaggerated startle response, Patent foramen ovale |
OMIM:620327 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response, Optic atrophy |
OMIM:616881 |
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 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Tay-Sachs Disease |
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Exaggerated startle response, Tremor, Optic atrophy, Hepatosplenomegaly, Dystonia, Cherry red spo... |
ORPHA:845 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Dystonia, Cherry red spot of th... |
ORPHA:79255 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Optic atrophy |
OMIM:617301 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response, Optic atrophy |
OMIM:617281 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:615574 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Optic atrophy |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect... |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Atrial septal defect, Exaggerated startle response, Ventricular septal defect |
OMIM:619522 |