Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
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Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Hemoglobin D Disease |
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Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Retinal Dysplasia, Primary |
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Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Hemoglobin E Disease |
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Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Intrinsic Factor Deficiency |
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Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Diamond-Blackfan Anemia 3 |
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Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Stargardt Disease 1 |
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Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Sickle Cell Anemia |
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Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Dehydrated Hereditary Stomatocytosis |
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Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Familial Pseudohyperkalemia |
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Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Optic disc pallor, Photoreceptor layer loss on macular OCT, Anemia, Retinal pigment epithelial at... |
OMIM:616959 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... |
OMIM:612561 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Retinoschisis 1, X-Linked, Juvenile |
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Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Bone Marrow Failure Syndrome 6 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Exudative Vitreoretinopathy 3 |
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Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
Oslam Syndrome |
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Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatomegaly, Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Aniso... |
OMIM:616860 |
Familial Drusen |
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Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Majeed Syndrome |
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Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
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Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Ventricular septal defect, Neutropenia, Increased mean corpuscular volume, Tet... |
OMIM:612562 |
Methylcobalamin Deficiency Type Cble |
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Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
ORPHA:2169 |
16Q24.3 Microdeletion Syndrome |
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Dilated cardiomyopathy, Ventricular septal defect, Increased mean corpuscular volume, Optic nerve... |
ORPHA:261250 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume |
OMIM:611590 |
Hypobetalipoproteinemia, Familial, 1 |
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Acanthocytosis, Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Refractory Anemia With Excess Blasts |
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Leukocytosis, Retinal hemorrhage, Abnormal mean corpuscular volume, Acute myeloid leukemia, Throm... |
ORPHA:86839 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytos... |
OMIM:618278 |
Exudative Vitreoretinopathy 2, X-Linked |
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Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Blackfan-Diamond Anemia |
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Thrombocytosis, Ventricular septal defect, Elevated red cell adenosine deaminase level, Neutropen... |
ORPHA:124 |
Shwachman-Diamond Syndrome |
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Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... |
ORPHA:811 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Anisopoikilocytosis, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticulocytopenia, Dec... |
ORPHA:300298 |
Beta-Thalassemia Intermedia |
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Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hep... |
ORPHA:231222 |
Beta-Thalassemia Major |
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Dilated cardiomyopathy, Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenom... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
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Dilated cardiomyopathy, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly,... |
ORPHA:231226 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
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 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Eisenmenger Syndrome |
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Hepatomegaly, Ventricular septal defect, Bacterial endocarditis, Increased mean corpuscular volum... |
ORPHA:97214 |
Sickle Cell Anemia |
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Leukocytosis, Hepatomegaly, Cardiomegaly, Splenomegaly, Retinopathy, Increased red cell sickling ... |
OMIM:603903 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Cardiomegaly, Anemia |
OMIM:618838 |
Castleman Disease |
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Thrombocytopenia, Decreased mean corpuscular volume, Anemia, Restrictive cardiomyopathy |
ORPHA:160 |
Attrv122I Amyloidosis |
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Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... |
ORPHA:85451 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia, Exaggerated startle response, Pulmonic ... |
OMIM:253800 |
Sandhoff Disease |
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Hepatomegaly, Cherry red spot of the macula, Cardiomegaly, Exaggerated startle response, Hepatosp... |
OMIM:268800 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Tay-Sachs Disease |
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Exaggerated startle response, Cherry red spot of the macula |
OMIM:272800 |
Stiff-Person Syndrome |
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Anemia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309246 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
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 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Heterotaxy, Visceral, 1, X-Linked |
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Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... |
OMIM:306955 |
Aorta Coarctation |
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Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Cherry red spot of the macula |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
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Optic atrophy, Exaggerated startle response |
OMIM:617301 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response |
OMIM:272750 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Tay-Sachs Disease |
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Tremor, Optic atrophy, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:845 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Limb tremor, Exaggerated startle response |
OMIM:608643 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Optic atrophy, Exaggerated startle response |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
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Optic atrophy, Exaggerated startle response |
ORPHA:521426 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response |
ORPHA:438216 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Optic disc pallor, Abnormal heart morphology, A... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Ventricular septal defect, Atrial septal defect, Exaggerated startle response |
OMIM:619522 |