| Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
| Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever |
ORPHA:183713 |
| Familial Cold Autoinflammatory Syndrome 4 |
|
Fever |
OMIM:616115 |
| Anhidrosis, Isolated, With Normal Sweat Glands |
|
Heat intolerance |
OMIM:106190 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever |
ORPHA:319600 |
| Neuropathy, Hereditary Thermosensitive |
|
Fever |
OMIM:602107 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... |
OMIM:263300 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
| Sudden Infant Death Syndrome |
|
Malignant hyperthermia |
OMIM:272120 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Malignant Hyperthermia, Susceptibility To, 4 |
|
Malignant hyperthermia |
OMIM:600467 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Nathalie Syndrome |
|
Cataract, Arrhythmia |
ORPHA:2663 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
| Primary Familial Polycythemia |
|
Epistaxis, Abnormal bleeding, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Nathalie Syndrome |
|
Cataract, Abnormal EKG |
OMIM:255990 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
| Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
| Pontiac Fever |
|
Fever |
ORPHA:99748 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Petechiae, Bruising susceptibility, Reticulocytosis, Epistaxis, I... |
OMIM:314050 |
| Cyclic Neutropenia |
|
Fever |
OMIM:162800 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Tempi Syndrome |
|
Increased hematocrit, Telangiectasia, Intracranial hemorrhage, Polycythemia |
ORPHA:284227 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Macrophagic Myofasciitis |
|
Fever |
ORPHA:592 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Thrombocytopenia, Acute ... |
ORPHA:231401 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Cataract, Ventricular ta... |
OMIM:615184 |
| Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
| Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Au... |
OMIM:617388 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Gingival blee... |
ORPHA:88 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Tuberculosis |
|
Fever |
ORPHA:3389 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Posterior retinal neovascularization, Vitreous hemorrhage |
OMIM:193235 |
| Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Progressive Nodular Histiocytosis |
|
Fever |
ORPHA:158022 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Fever |
OMIM:614674 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Cataract... |
ORPHA:1345 |
| Hyperthermia, Cutaneous, With Headaches And Nausea |
|
Fever |
OMIM:145590 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abn... |
ORPHA:85451 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG |
OMIM:300376 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
| Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
| Retinal Capillary Malformation |
|
Hyphema, Vitreous hemorrhage |
ORPHA:71213 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
| Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Heart block, Abnorma... |
ORPHA:398124 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis |
OMIM:237800 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Limbal stem cell deficiency, Corneal neovascularization |
OMIM:615225 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Telangiectasia, Keratoconjunctivitis sicca, Corneal neovascularization, Cataract,... |
OMIM:278730 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Chronic Recurrent Multifocal Osteomyelitis |
|
Fever |
OMIM:259680 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Fever, Periodic fever |
OMIM:617772 |
| Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hypertriglyceridemia, Increased red blood ce... |
ORPHA:90041 |
| Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Corneal neovascularization, Cataract, Eosinophilia, Opacification of the co... |
OMIM:158310 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
| Duodenal Neuroendocrine Tumor |
|
Hypotension, Increased hematocrit, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palp... |
ORPHA:100076 |
| Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... |
OMIM:221900 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| Kaposiform Lymphangiomatosis |
|
Anemia, Epidural hemorrhage, Abnormal spleen morphology, Abnormal bleeding, Bruising susceptibili... |
ORPHA:464329 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Normochromic microcytic anemia, Dilated cardiomyopathy, Congestive heart fa... |
OMIM:610198 |
| Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior ... |
ORPHA:39044 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Thrombocytopenia, Cataract, Cardiomyopathy |
ORPHA:67048 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ante... |
ORPHA:91495 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... |
ORPHA:1055 |
| Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
| Juvenile Xanthogranuloma |
|
Hyphema, Asymmetry of iris pigmentation, Iritis, Myeloproliferative disorder |
ORPHA:158000 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Vasculitis in the skin, Decreased mean platelet volume, Thrombocytopenia, Subconju... |
OMIM:617718 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Petechiae, Bruising susceptibility, Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemi... |
OMIM:300367 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever |
OMIM:619175 |
| Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... |
OMIM:613507 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Pulverulent cataract, Developmental cataract, Microcornea, Retinal neovascul... |
OMIM:193220 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Anemia, Cataract, Arrhythmia |
OMIM:606069 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... |
OMIM:601005 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... |
OMIM:600376 |
| Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... |
ORPHA:99827 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Weill-Marchesani Syndrome |
|
Ventricular septal defect, Ectopia lentis, Cataract, Mitral regurgitation, Aortic valve stenosis,... |
ORPHA:3449 |
| Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage, Subcapsular cataract |
OMIM:601813 |
| Livedoid Vasculopathy |
|
Macular purpura, Anemia, Ischemic stroke, Hypertension, Polycythemia, Ecchymosis, Pancytopenia, L... |
ORPHA:542643 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal heart morphology, Corneal opacity, Persistent ... |
ORPHA:1067 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Cataract, Left ventricular noncompaction |
OMIM:617228 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... |
OMIM:616201 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Cataract, Prolonged QT interval |
OMIM:615351 |
| Phacoanaphylactic Uveitis |
|
Retinal arteritis, Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae o... |
ORPHA:209959 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Purpura, Lymphopenia, Ecchymosis, Shock, Leukocytosis, Exce... |
ORPHA:319213 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Diffuse al... |
ORPHA:464321 |
| Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... |
ORPHA:90065 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hemolytic anemia, Hypoplasia of the iri... |
OMIM:175780 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Anemia, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, ... |
ORPHA:340 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Cataract, Arrhythmia |
ORPHA:225 |
| Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... |
ORPHA:75565 |
| Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Fever |
OMIM:241120 |
| Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Acute myeloid leukemia, Abnormal mean corpuscular volume, Abnormal bleeding, ... |
ORPHA:86839 |
| Congenital Aortic Valve Stenosis |
|
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... |
ORPHA:3093 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Cardiomegal... |
ORPHA:1329 |
| Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:224100 |
| Exudative Vitreoretinopathy 1 |
|
Retinal neovascularization, Vitreous hemorrhage, Subcapsular cataract |
OMIM:133780 |
| Beta-Thalassemia |
|
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcy... |
ORPHA:848 |
| Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
| Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
| Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Hyperaldosteronism, Ven... |
ORPHA:37553 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Subarac... |
OMIM:187300 |
| Multicentric Reticulohistiocytosis |
|
Fever |
ORPHA:139436 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
| Eales Disease |
|
Vitreous hemorrhage, Iris neovascularization, Ischemic stroke, Transient ischemic attack, Periphe... |
ORPHA:40923 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Left ventricular hypertrophy, Prolonged QTc interval |
OMIM:619040 |
| Kid Syndrome |
|
Conjunctivitis, Corneal erosion, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Punctat... |
ORPHA:477 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Reticulocytosis, Shock, Pericarditis, Capillary leak, Neutrophilia in presence of in... |
ORPHA:99826 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... |
OMIM:614022 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:612653 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Dextrotransposition of the great arteries, Left ventricular outflow tract obstruction, Ventricula... |
ORPHA:860 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Cataract, Dilated cardiomyopathy, Microcytic anemia |
OMIM:618805 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial... |
ORPHA:251274 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular septal hypertro... |
ORPHA:263297 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Increased circulating free fatty acid level, Ventricular septal defect, Per... |
ORPHA:26793 |
| Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Ventricular arrhythmia, Cataract, Prolonged QT interval, Abnormal left ventricula... |
ORPHA:36913 |
| Familial Exudative Vitreoretinopathy |
|
Retinal neovascularization, Macular telangiectasia, Cataract, Vitreous hemorrhage |
ORPHA:891 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Increased circulating free fatty acid level, Abnormal circulating insu... |
ORPHA:293964 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Pericardial effusion, Pericarditis, Thrombocytopenia, Prolonged QTc interval |
ORPHA:231111 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Myocardial infarction, Arrhythmia, Thrombocyt... |
ORPHA:54057 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir... |
OMIM:310300 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Cataract, Cardiomyopathy |
OMIM:301075 |
| Retinoblastoma |
|
Vitreous hemorrhage, Leukocoria, Subretinal pigment epithelium hemorrhage, Heterochromia iridis, ... |
ORPHA:790 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, Pericardial effusion, ST segment depression, Congestive heart fail... |
OMIM:261740 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... |
ORPHA:99106 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever |
OMIM:601887 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Reduced hematocrit, Hypertension |
ORPHA:79126 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Thrombocytosis, Polycythemia, Pericardial effusion |
ORPHA:2905 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Malignant hyperthermia |
OMIM:217150 |
| Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
| Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Cataract... |
ORPHA:290 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal scarring, Splenomegaly, Prolonged prothrombin time, Corneal neovascularization |
ORPHA:404454 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal bleeding, Abnormal hemoglobin concentration, ... |
ORPHA:35858 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Hypertension, Myocardial infarction, Abnormal left ventricular function, Palpitatio... |
ORPHA:892 |
| Hepatocellular Carcinoma |
|
Hypotension, Anemia, Polycythemia, Internal hemorrhage, Thrombocytopenia, Thrombocytosis, Portal ... |
ORPHA:88673 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4 |
|
Fever |
OMIM:614212 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Posterior embryotoxon, Purpura, Corneal neovascularization, Hypertensiv... |
ORPHA:567 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic a... |
OMIM:235700 |
| Peroxisome Biogenesis Disorder 9B |
|
Cataract, Cardiomyopathy |
OMIM:614879 |
| Halothane Hepatitis |
|
Fever |
OMIM:234350 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:182900 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
| Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185000 |
| Ogden Syndrome |
|
Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Patent foramen... |
OMIM:300855 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
| Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Reduced left ventricular ejection fraction, Abnormal EKG, Monoclonal... |
ORPHA:85443 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f... |
ORPHA:2457 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| Sitosterolemia 1 |
|
Stomatocytosis, Anemia, Corneal arcus, Abnormal bleeding, Reticulocytosis, Episodic hemolytic ane... |
OMIM:210250 |
| Fumarase Deficiency |
|
Polycythemia |
OMIM:606812 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
| Cln3 Disease |
|
T-wave inversion, Left ventricular hypertrophy, Cataract, Bradycardia, Vacuolated lymphocytes |
ORPHA:228346 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon |
OMIM:611773 |
| Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG, Developmental cataract, Hepatosplenomegaly, Cataract, Corneal opaci... |
ORPHA:93400 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Abnormal EKG |
ORPHA:1177 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... |
OMIM:255160 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
| Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
| Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Arrhythmia, Thrombocytopenia... |
ORPHA:509 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... |
ORPHA:71275 |
| Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Hypertension |
OMIM:193300 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Large for gestationa... |
ORPHA:226313 |
| Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae |
ORPHA:1885 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Portal hypertension, Splen... |
ORPHA:309854 |
| Warburg-Cinotti Syndrome |
|
Decreased corneal thickness, Symblepharon, Limbal stem cell deficiency, Corneal neovascularization |
OMIM:618175 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
| Dilated Cardiomyopathy With Ataxia |
|
Normochromic microcytic anemia, Dilated cardiomyopathy, Hypochromic microcytic anemia, Prolonged ... |
ORPHA:66634 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Abnormal anterior eye segment morphology, Intraretinal hemorrhage |
ORPHA:411527 |
| Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
| Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Corneal neovascula... |
ORPHA:2363 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... |
OMIM:612561 |
| Refsum Disease, Classic |
|
Congestive heart failure, Cataract, Arrhythmia, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis |
OMIM:232800 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
| Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Co... |
OMIM:194380 |
| Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenome... |
ORPHA:231222 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Fever, Recurrent fever |
OMIM:201910 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hemolytic ane... |
OMIM:266200 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Prolonged QT interval, Hypertriglyceridemia, Bradycardia, Tachycardia, Atrial fibri... |
OMIM:613327 |
| Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, Abnormality o... |
ORPHA:33226 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:300653 |
| Immunodeficiency 32A |
|
Fever |
OMIM:614893 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Sideroblastic anemia, Cataract, Thrombocytopenia, Cardiomyopathy |
OMIM:222300 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P... |
ORPHA:288 |
| Isolated Aniridia |
|
Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Vasculi... |
OMIM:192315 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... |
ORPHA:90674 |
| Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Hypothermia, Goiter, Thyroid dysgenesis, Umbilical hernia |
ORPHA:226292 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... |
OMIM:264800 |
| Retinoblastoma |
|
Leukocoria, Vitreous hemorrhage, Leukemia |
OMIM:180200 |
| Familial Isolated Hypoparathyroidism |
|
Cataract, Arrhythmia |
ORPHA:2238 |
| Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Mydriasis, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia... |
ORPHA:90068 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cor... |
ORPHA:231625 |
| Spinocerebellar Ataxia Type 3 |
|
Abnormality of temperature regulation |
ORPHA:98757 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:310200 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
OMIM:611590 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia, Bruising susceptibility |
ORPHA:98791 |
| Dextrocardia |
|
Abnormal EKG, T-wave inversion, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, ... |
ORPHA:1666 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
| Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... |
ORPHA:980 |
| Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
| Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Extramedullary hematopoiesis, Decreased mean corpuscular hem... |
ORPHA:231226 |
| Harderoporphyria |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:618892 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Beta-Thalassemia Major |
|
Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
| Fabry Disease |
|
Angina pectoris, Hypertrophic cardiomyopathy, Hyperlipidemia, Corneal dystrophy, Transient ischem... |
ORPHA:324 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| Pfapa Syndrome |
|
Abnormality of temperature regulation |
ORPHA:42642 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Bidirectional ventricular ectopy,... |
OMIM:170390 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... |
ORPHA:508542 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Microangiopathic hemolytic anemia, Reticulocytosis, Myocardial infarct... |
OMIM:274150 |
| Gitelman Syndrome |
|
Abnormal T-wave, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-to-normal blood ... |
ORPHA:358 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Prolonged QT interval, Increased circulating free fatty acid level, ... |
ORPHA:71212 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypertension, Corneal neovascularization, Keratitis, Opacification of the corneal stroma, Recurre... |
OMIM:308205 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Schistocytosis, Hyperlipidemia,... |
OMIM:235400 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Lens subluxation, Cataract, Microphakia |
ORPHA:171844 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachycardia, Prolong... |
OMIM:616878 |
| Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Reduced hematocrit, Anterior chamber flare, Normocytic anemia, Posterior syn... |
ORPHA:91500 |
| Alport Syndrome 2, Autosomal Recessive |
|
Hypertension, Cataract, Anterior lenticonus, Corneal erosion |
OMIM:203780 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Abnormal EKG, Syncope, Orthostatic hypotension, Orthostatic syncope |
ORPHA:230 |
| Granulomatosis With Polyangiitis |
|
Conjunctivitis, Retinal hemorrhage, Granulomatosis, Diffuse alveolar hemorrhage, Localized pulmon... |
OMIM:608710 |
| Leukocyte Adhesion Deficiency |
|
Conjunctivitis, Acute myeloid leukemia, Impaired neutrophil chemotaxis, Abnormal bleeding, Polycy... |
ORPHA:2968 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
| Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Abnormal radioactive... |
ORPHA:226316 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Pseudohypoparathyroidism Type 1B |
|
Conjunctivitis, Cataract, Prolonged QT interval |
ORPHA:94089 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypothermia |
OMIM:245400 |
| Ethylene Glycol Poisoning |
|
Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Tachycardia, A... |
ORPHA:31826 |
| Rift Valley Fever |
|
Retinal hemorrhage, Anemia, Abnormal bleeding, Gingival bleeding, Hematemesis, Thrombocytopenia, ... |
ORPHA:319251 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage |
OMIM:177850 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Astigmatism, Persistence of hemoglobin F |
OMIM:619769 |
| Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
| Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma |
OMIM:216820 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Arrhythmia, Prolonged QT interval, Abnormal EKG |
ORPHA:480864 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Prolo... |
ORPHA:2330 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Myelofibrosis |
|
Fever |
OMIM:254450 |
| Pseudoxanthoma Elasticum |
|
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Bruising s... |
ORPHA:758 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Hypothermia, Joint contracture |
OMIM:614498 |
| Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Cardiomegaly... |
ORPHA:268 |
| Beckwith-Wiedemann Syndrome |
|
