| 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 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
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 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Malignant Hyperthermia, Susceptibility To, 4 |
|
Malignant hyperthermia |
OMIM:600467 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:231393 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Nathalie Syndrome |
|
Arrhythmia, Cataract |
ORPHA:2663 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Sudden Infant Death Syndrome |
|
Malignant hyperthermia |
OMIM:272120 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Primary Familial Polycythemia |
|
Abnormal bleeding, Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Nathalie Syndrome |
|
Abnormal EKG, Cataract |
OMIM:255990 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
| Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Limbal stem cell deficiency... |
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 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| 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 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... |
OMIM:314050 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Cyclic Neutropenia |
|
Fever |
OMIM:162800 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Tempi Syndrome |
|
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia |
ORPHA:284227 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Macrophagic Myofasciitis |
|
Fever |
ORPHA:592 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Fever |
OMIM:614674 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... |
OMIM:615184 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis sicca, Punctat... |
OMIM:617388 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Gingival bleeding, Neutro... |
ORPHA:88 |
| Tuberculosis |
|
Fever |
ORPHA:3389 |
| Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
| Progressive Nodular Histiocytosis |
|
Fever |
ORPHA:158022 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
| Hyperthermia, Cutaneous, With Headaches And Nausea |
|
Fever |
OMIM:145590 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hyperten... |
ORPHA:1345 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Splenomegaly... |
ORPHA:398124 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpus... |
ORPHA:90041 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Limbal stem cell deficiency, Corneal neovascularization |
OMIM:615225 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascu... |
OMIM:278730 |
| Chronic Recurrent Multifocal Osteomyelitis 3 |
|
Fever |
OMIM:259680 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Fever, Periodic fever |
OMIM:617772 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Cornea... |
OMIM:158310 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Malignant hyperthermia |
OMIM:601887 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
| Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... |
ORPHA:39044 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Splenomegaly, Hepatosplenomegaly, Anemia, Subc... |
ORPHA:464329 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Cataract, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
| Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation |
ORPHA:158000 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever |
OMIM:619175 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... |
ORPHA:57777 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Vitreoretinochoroidopathy |
|
Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhage, Retinal neovascul... |
OMIM:193220 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia, Cataract, Anemia |
OMIM:606069 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa... |
OMIM:600376 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Livedoid Vasculopathy |
|
Pancytopenia, Telangiectasia of the skin, Leukocytosis, Hypertension, Ischemic stroke, Macular pu... |
ORPHA:542643 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ecchymosis, ... |
ORPHA:99827 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endothelium morphology,... |
ORPHA:209959 |
| Weill-Marchesani Syndrome |
|
Cataract, Ventricular septal defect, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aor... |
ORPHA:3449 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
| Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage, Subcapsular cataract |
OMIM:601813 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Cataract |
OMIM:615351 |
| Lujo Hemorrhagic Fever |
|
Shock, Excessive bleeding after a venipuncture, Myocarditis, Leukocytosis, Subconjunctival hemorr... |
ORPHA:319213 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
| Maternally-Inherited Diabetes And Deafness |
|
Cataract, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:225 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmen... |
OMIM:175780 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Fever |
OMIM:241120 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Petechiae, Epistaxis, Hematemesis, Leukocytosis, Capillary leak, Intracranial... |
ORPHA:340 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal bleeding, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
| Sengers Syndrome |
|
Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, Pulmonary arterial hypert... |
OMIM:212350 |
| Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Subcapsular cataract, Retinal neovascularization |
OMIM:133780 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Hypertrophic cardiomyopathy, Thromb... |
ORPHA:848 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out... |
OMIM:187300 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Multicentric Reticulohistiocytosis |
|
Fever |
ORPHA:139436 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... |
ORPHA:1329 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Eales Disease |
|
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Iris neovascularizat... |
ORPHA:40923 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Cataract, Reduced systolic function, Microcytic anemia |
OMIM:618805 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
| Kid Syndrome |
|
Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularizatio... |
ORPHA:477 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... |
ORPHA:860 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
| Marburg Hemorrhagic Fever |
|
Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal... |
ORPHA:99826 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Abnormal left ventricular function, Conjunctivitis, Ventricular ... |
ORPHA:36913 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Increased circulating free fatty a... |
ORPHA:26793 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... |
ORPHA:263297 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra... |
ORPHA:251274 |
| Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Cataract, Retinal neovascularization |
ORPHA:891 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Abnormal circulating insulin concentration, Increased... |
ORPHA:293964 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Arrhythmia, Thrombocyt... |
ORPHA:54057 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... |
OMIM:310300 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Anemia, Prolonged QTc interval, Thrombocytopenia |
ORPHA:231111 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Cardiomyopathy, Myofiber disarray, Cataract |
OMIM:301075 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Reduced hematocrit |
ORPHA:79126 |
| Retinoblastoma |
|
Hypopyon, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Vitreous hemorrhage, Leu... |
ORPHA:790 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Poems Syndrome |
|
Pericardial effusion, Thrombocytosis, Polycythemia, Pulmonary arterial hypertension |
ORPHA:2905 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Malignant hyperthermia |
OMIM:217150 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST ... |
OMIM:261740 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic a... |
ORPHA:35858 |
| Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
| Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Ventricular septal defect, Splenomegaly, Aplasia/Hypoplasia of the iri... |
ORPHA:290 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Splenomegaly, Prolonged prothrombin time, Corneal neovascularization, Corneal scarring |
ORPHA:404454 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypertensive crisis, Cataract, Splenomegaly, Hypoplasia of the thymu... |
ORPHA:567 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4 |
|
Fever |
OMIM:614212 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
| Ogden Syndrome |
|
Atrial septal defect, Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargeme... |
OMIM:300855 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Cln3 Disease |
|
Cataract, Vacuolated lymphocytes, T-wave inversion, Bradycardia, Left ventricular hypertrophy |
ORPHA:228346 |
| Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia, Petechiae |
OMIM:611490 |
| Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcu... |
OMIM:210250 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Howell-Jolly bodies, Abnormal cardiac ventricle morpho... |
ORPHA:85443 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
| Fumarase Deficiency |
|
Conjunctival icterus, Perimembranous ventricular septal defect, Polycythemia |
OMIM:606812 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy |
ORPHA:1177 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke |
OMIM:611773 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Hepatosplenomegaly, Developmental cataract, Telangiectas... |
ORPHA:93400 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Von Hippel-Lindau Syndrome |
|
Hypertension, Polycythemia |
OMIM:193300 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract, Tetralogy of Fallot |
ORPHA:1381 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
| Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Conjunctival hyperemia, Retinal hemorrhage, Su... |
ORPHA:509 |
| Atelis Syndrome 2 |
|
Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrhage, Developmental cataract, Pulmonic ste... |
OMIM:620185 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Portal hypertension, Splenomegaly, Prolonged prothrombin time, Hypertrophic cardiomyopathy, Polyc... |
ORPHA:309854 |
| Isolated Ectopia Lentis |
|
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Warburg-Cinotti Syndrome |
|
Limbal stem cell deficiency, Corneal neovascularization, Decreased corneal thickness, Symblepharon |
OMIM:618175 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Hypochromic mi... |
ORPHA:66634 |
| Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgi... |
OMIM:612561 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
| Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Conjunctival icterus, Increased mean corpuscular hemoglobin concen... |
OMIM:194380 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Fever, Recurrent fever |
OMIM:201910 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Splenomegaly, Brad... |
OMIM:613327 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Hypothermia, Goiter, Pituitary hypothyroidism, Umbil... |
ORPHA:90674 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophils, Splenomega... |
ORPHA:33226 |
| Immunodeficiency 32A |
|
Fever |
OMIM:614893 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Megaloblastic anemia, Cardiomyopathy, Thrombocytopenia |
OMIM:222300 |
| Spinocerebellar Ataxia Type 3 |
|
Abnormality of temperature regulation |
ORPHA:98757 |
| Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Cataract |
ORPHA:2238 |
| Retinoblastoma |
|
Vitreous hemorrhage, Leukemia, Leukocoria |
OMIM:180200 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... |
ORPHA:231625 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Bruising susceptibility, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Anem... |
ORPHA:324 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
| Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal heart mor... |
ORPHA:1666 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Harderoporphyria |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:618892 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Pfapa Syndrome |
|
Abnormality of temperature regulation |
ORPHA:42642 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Schistocytosis, Microangiopath... |
OMIM:274150 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Cataract, Anterior chamber flare, Vitreous hemorrhage, Normochromic anemia, Po... |
ORPHA:91500 |
| Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Low-to-normal blood pressure, Ir... |
ORPHA:358 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Cataract, Tricuspid regurgitation, Thrombocytopenia, Congestive hea... |
ORPHA:508542 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... |
OMIM:170390 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia,... |
OMIM:235400 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Increased circulating... |
ORPHA:71212 |
| Acute Radiation Syndrome |
|
Cataract, Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Hypertension, Recurrent corneal erosions, Opacification of the corneal stroma, Corneal... |
OMIM:308205 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... |
OMIM:616878 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... |
ORPHA:90673 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Alport Syndrome 2, Autosomal Recessive |
|
Hypertension, Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
| Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope, Anemia |
ORPHA:230 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Cataract, Conjunctivitis |
ORPHA:94089 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypothermia |
OMIM:245400 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
| Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
| Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Arrhythmia |
ORPHA:480864 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Granu... |
OMIM:608710 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Prolonged prothrombin time, Microangiop... |
ORPHA:2330 |
| Rift Valley Fever |
|
Abnormal bleeding, Hematemesis, Retinal hemorrhage, Anemia, Melena, Gingival bleeding, Thrombocyt... |
ORPHA:319251 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Abnormal bleeding, Leukocytosis, Conjunctivitis, Abnormality of neutrophi... |
ORPHA:2968 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis |
OMIM:232800 |
| Myelofibrosis |
|
Fever |
OMIM:254450 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Beckwith-Wiedemann Syndrome |
|
Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia, Cardiomegaly |
ORPHA:116 |
| Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... |
ORPHA:268 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... |
ORPHA:79102 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
| Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Juncti... |
OMIM:309801 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Developmental cataract, Intracranial hemorrhage, Astigmatism, Anemia |
ORPHA:86309 |
| Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism |
ORPHA:31 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia, Steatorrhea |
OMIM:269200 |
| Joubert Syndrome 35 |
|
Abnormality of temperature regulation |
OMIM:618161 |
| Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Cataract, Conjunctivitis |
ORPHA:79444 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Cataract, Band keratopathy, Hypertension, Conjunctivitis |
ORPHA:79443 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval |
OMIM:300352 |
| Incontinentia Pigmenti |
|
Cataract, Telangiectasia of the skin, Eosinophilia, Corneal opacity, Keratitis, Congestive heart ... |
ORPHA:464 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Asplenia, Abnormal pupil morphology, Hyphema, Microcornea, Ectopia pupill... |
ORPHA:261552 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension |
OMIM:620029 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Sple... |
OMIM:232300 |
| Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocyto... |
OMIM:618278 |
| Lead Poisoning |
|
Hypertension, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Abnormality of temperature regulation |
OMIM:619173 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia |
OMIM:614653 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia |
OMIM:618493 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy... |
OMIM:609049 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Bicuspid aortic valve, Developmental glaucoma, Tachycardia |
ORPHA:1772 |
| Abetalipoproteinemia |
|
Reticulocytosis, Acanthocytosis, Cardiomegaly, Congestive heart failure, Keratoconjunctivitis sic... |
ORPHA:14 |
| Incontinentia Pigmenti |
|
Cataract, Eosinophilia, Keratitis, Leukocytosis, Retinal hemorrhage |
OMIM:308300 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Cataract, Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Cataract, Cardiac conduction abnormality, Thrombocytopenia, Spleno... |
ORPHA:699 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Splenomegaly, Cardiomyopat... |
ORPHA:373 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Cockayne Syndrome Type 3 |
|
Cataract, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Microcornea, Cardiomyopathy, Ker... |
ORPHA:90324 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Hypertension, Microangiopat... |
ORPHA:90038 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal bleeding, Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombo... |
ORPHA:3261 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Hypothermia |
OMIM:618775 |
| Sympathetic Ophthalmia |
|
Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior synechiae of the anterior chamber... |
ORPHA:79098 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Hypo... |
ORPHA:293987 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia, Mydriasis |
ORPHA:2131 |
| 17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Keratitis, Splenomegaly, Myocarditis, Congestive heart failure, Hepat... |
ORPHA:3385 |
| Alexander Disease |
|
Diabetes mellitus, Hypothermia, Precocious puberty, Failure to thrive, Hypothyroidism |
ORPHA:58 |
| Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Keratoconjuncti... |
ORPHA:79277 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Hypothermia |
OMIM:618329 |
| Trichinellosis |
|
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Retinal hemorrhage |
ORPHA:863 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Hypothermia |
ORPHA:159 |
| Machado-Joseph Disease Type 1 |
|
Abnormality of temperature regulation |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Abnormality of temperature regulation |
ORPHA:276241 |
| Meningococcal Meningitis |
|
Hypothermia |
ORPHA:33475 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hypothermia |
OMIM:251880 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Machado-Joseph Disease Type 3 |
|
Abnormality of temperature regulation |
ORPHA:276244 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism, Failure to thrive, Hypothermia |
ORPHA:255210 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Neck pterygia, Hypertension,... |
ORPHA:99413 |
| Turner Syndrome |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Neck pterygia, Hypertension,... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Neck pterygia, Hypertension,... |
ORPHA:99228 |
| Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Neck pterygia, Hypertension,... |
ORPHA:99226 |
| Cockayne Syndrome |
|
Cataract, Band keratopathy, Splenomegaly, Retinal hemorrhage, Developmental cataract, Hypertensio... |
ORPHA:191 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Shortened QT interval, Melena, Hypertension, Increased circulating cortisol level, P... |
ORPHA:652 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia, Weight loss |
ORPHA:20 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Central adre... |
ORPHA:488632 |
| Congenital Enterovirus Infection |
|
Hypothermia |
ORPHA:292 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Flexion contracture, Hypothermia |
ORPHA:17 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... |
OMIM:601992 |
| Stuve-Wiedemann Syndrome 1 |
|
Fever, Abnormality of temperature regulation, Recurrent fever |
OMIM:601559 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormality of temperature regulation |
ORPHA:1334 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Shortened QT interval |
ORPHA:143 |
| Menkes Disease |
|
Inguinal hernia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, Chondrocalcinosis |
ORPHA:565 |
| Cockayne Syndrome Type 1 |
|
Abnormality of temperature regulation |
ORPHA:90321 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Hypothermia |
ORPHA:79282 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Flexion contracture, Hypothermia |
ORPHA:99027 |
| Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... |
ORPHA:198 |
| Ulnar-Mammary Syndrome |
|
Abnormality of temperature regulation |
ORPHA:3138 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormality of temperature regulation |
OMIM:209880 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia |
OMIM:241080 |
| Neuroleptic Malignant Syndrome |
|
Hypothermia |
ORPHA:94093 |
| Deeah Syndrome |
|
Abnormality of temperature regulation |
OMIM:619004 |
| Sarcoidosis |
|
Hyperthyroidism, Diabetes insipidus, Scarring, Hypothermia, Weight loss, Abnormality of the adren... |
ORPHA:797 |
| Acute Transverse Myelitis |
|
Fever, Abnormality of temperature regulation |
ORPHA:139417 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia |
ORPHA:3464 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothermia, Precocious puberty, Abnormality of the endocrine system, Abnormality of the anterior... |
ORPHA:438213 |
| Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli... |
ORPHA:51608 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of temperature regulation |
ORPHA:667 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Atypical scarring of skin, Fasciitis, Hypothermia, Corneal scarring |
ORPHA:642 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2273 |
