Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Left Isomerism, Atrioventricular canal defect, Un... |
OMIM:618300 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Chronic lung disease, Cough, Recurrent lower respiratory tract inf... |
OMIM:618254 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Scimitar Syndrome |
|
Respiratory distress, Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous retu... |
ORPHA:185 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... |
ORPHA:99050 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... |
OMIM:613255 |
Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Chronic rhinitis, Dextrocardia, Situs inversus totalis, Rhinorrhea, Bronchiectasis, Rig... |
OMIM:617577 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... |
ORPHA:860 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... |
OMIM:605376 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Tricuspid regurgitation, P... |
ORPHA:2414 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... |
ORPHA:980 |
Meacham Syndrome |
|
Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Cardiac total ano... |
OMIM:608978 |
Cardiac Lipidosis, Familial |
|
Death in infancy, Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Hydrops Fetalis |
|
Miscarriage, Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion,... |
ORPHA:1041 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Death in middle age, Increased left ventricular end-diastolic volume, Con... |
OMIM:613286 |
Primary Effusion Lymphoma |
|
Dyspnea, Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bun... |
OMIM:115197 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Nephrosialidosis |
|
Death in childhood, Ascites, Pericardial effusion, Bone-marrow foam cells |
OMIM:256150 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Stroke, Pleural effusion |
OMIM:602248 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Ciliary dy... |
OMIM:611884 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death i... |
OMIM:253300 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Situs inversus totalis, Dextrocard... |
OMIM:615482 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal cardiovascular system physiolog... |
ORPHA:50251 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Situs i... |
OMIM:615067 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... |
ORPHA:1686 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction, Cardiogenic shock, Dilated cardiomyopathy, ... |
OMIM:613642 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... |
OMIM:618654 |
Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... |
OMIM:600884 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... |
ORPHA:2041 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Abnormality of skin pigmentation |
OMIM:237450 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... |
OMIM:617478 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... |
OMIM:618280 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... |
ORPHA:95430 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... |
OMIM:615355 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Alopecia, Hypogonadotropic hypogonadism, Arrhythmia, H... |
OMIM:235200 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... |
ORPHA:199241 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect, Lymphopenia, Neutropenia |
OMIM:614868 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... |
ORPHA:79126 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Hypertrichosis, Stroke, Anomalous branches of internal carotid artery, Sacr... |
ORPHA:363705 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Dextrocardia |
|
Congenital malformation of the great arteries, Abnormal lung lobation, Situs inversus totalis, De... |
ORPHA:1666 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Right bundle branch block, Scapuloperoneal amyotrophy, Muscle fiber hya... |
OMIM:255160 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Melanocytic nevus, Anemia, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Ciliary Dyskinesia, Primary, 38 |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Bronchiectasis, Neonatal respirat... |
OMIM:618063 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops feta... |
OMIM:617300 |
Loeffler Endocarditis |
|
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... |
ORPHA:75566 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Aortic Arch Interruption |
|
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... |
ORPHA:2299 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... |
OMIM:605676 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Wild Type Attr Amyloidosis |
|
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... |
ORPHA:330001 |
Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Peripheral arteriovenous fistula, Respiratory insufficiency, Hydrops fetali... |
ORPHA:90308 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... |
OMIM:237800 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Chronic sinusi... |
OMIM:614679 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... |
OMIM:614470 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal jugular vein morphology, Reduced left ventricular ejection fraction, Holosystolic murmur... |
ORPHA:1677 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pedal ed... |
ORPHA:615 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:612877 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Secundum atrial septal defect, Tachypnea, Pneumothorax, Dextrocardia, Abnormal hem... |
ORPHA:2257 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Tachycardia... |
ORPHA:3426 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... |
ORPHA:99105 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... |
ORPHA:99095 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Abnormal left ventricular function, Supraventricular tachycardia, Sudden cardiac death, Muscular ... |
ORPHA:300751 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Respiratory f... |
ORPHA:563 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... |
OMIM:618052 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Ciliary Dyskinesia, Primary, 22 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:615444 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Unilateral vertebral artery hypoplasia, Spina bifida occulta, Situs inversus to... |
OMIM:613686 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Pulmo... |
ORPHA:2326 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent... |
OMIM:106700 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Overriding aorta, Hydrops fetalis, Ventricular septal defect, Lymphedema, P... |
OMIM:601927 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Respiratory failure, Ab... |
ORPHA:244 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Alveolar cap... |
OMIM:265380 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Cough, Angioedema, Restrictive ventilatory defect, Emphysema, Pleural effusio... |
ORPHA:36412 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic st... |
OMIM:601186 |
Abcd Syndrome |
|
Polycythemia, Neonatal death, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked ... |
OMIM:600501 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... |
OMIM:606763 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Desminopathy |
|
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Concentric hypertr... |
ORPHA:98909 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Cough, Situs inversus totalis, Dextrocardia, Abdominal situs inversus, Chronic sinusitis, Decreas... |
OMIM:619607 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... |
ORPHA:555874 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Hearing impairment, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... |
OMIM:614954 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Hypogonadotropic hypogonadism, Facial palsy, Ventricular s... |
OMIM:147770 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Arrhythmia, Myocarditis, Cough, Hypotension, Pedal edema, Rhinorrhea, Pleural ef... |
ORPHA:188 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Supracardiac total anomalous pulmonary venous connection, Apneic episodes i... |
ORPHA:99125 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:137667 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Secundum atrial septal defect, Cerebral hemorrhage, Respirat... |
OMIM:617397 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Pleural empyema, Constrictive pericarditis, Cough, Pleural effus... |
ORPHA:67 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Abnormal bone structure, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Frontal hirsutism |
OMIM:129850 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Right axis deviation, Macroglo... |
OMIM:232300 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Sparse eyebrow, Pulmonic stenosis, Left ventricular hypert... |
OMIM:616564 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... |
OMIM:620010 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... |
ORPHA:99106 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Respiratory insufficiency, Bilateral lung agenesis, Neonatal ... |
OMIM:601612 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure |
OMIM:618234 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Death in... |
OMIM:613759 |
Pericardial Effusion, Chronic |
|
Retinal arteriolar tortuosity, Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Poland Syndrome |
|
Hypoplasia of latissimus dorsi muscle, Unilateral absence of pectoralis major muscle, Absence of ... |
OMIM:173800 |
Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpit... |
ORPHA:2038 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac a... |
ORPHA:49827 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Hypertrophic cardiomyopathy, Hydrops fetalis, Ventricular septal defect, Pol... |
OMIM:616897 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Scedosporiosis |
|
Sinusitis, Pleural empyema, Endocarditis, Cough, Pleuritis, Bronchitis, Pneumonia, Abnormal respi... |
ORPHA:449280 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Abnormal pericardium morphology, Myocardial infarction, Abnormal myoc... |
ORPHA:679 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Dou... |
OMIM:306955 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... |
OMIM:619924 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... |
ORPHA:1329 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Cerebral atrophy, Joint contracture of the h... |
OMIM:179613 |
Infantile Sialic Acid Storage Disease |
|
Fair hair, Vacuolated lymphocytes, Splenomegaly, Hypopigmentation of the skin, Osteopenia, Conjug... |
OMIM:269920 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ciliary Dyskinesia, Primary, 14 |
|
Bronchiectasis, Chronic bronchitis, Heterotaxy, Wheezing, Cough, Situs inversus totalis, Ciliary ... |
OMIM:613807 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... |
ORPHA:1120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Left ventricular hypertrophy, Ventricular hypertrophy, Congestive heart failure, Bradycardia |
OMIM:619048 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Facial pa... |
OMIM:612387 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Hyperpigmentation o... |
OMIM:618892 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Central sleep apnea, Hypopigmentation of hair, Muscle weakness, Stroke-like episode, Hypertrophic... |
ORPHA:70472 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Respirator... |
ORPHA:1880 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Respiratory insufficiency, Hydrops fetalis, Ventricular septal defect, Olig... |
ORPHA:1909 |
Poems Syndrome |
|
Hypertrichosis, Leukonychia, Pulmonary arterial hypertension, Erectile dysfunction, Hyperpigmenta... |
ORPHA:2905 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Polyhydramnios, Atrial septal defect, Astrocytosis |
OMIM:611087 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Sandhoff Disease |
|
Cherry red spot of the macula, Muscle weakness, Recurrent respiratory infections, Congestive hear... |
ORPHA:796 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital... |
ORPHA:2847 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Congestive heart failure |
OMIM:301021 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia |
OMIM:221950 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... |
OMIM:616866 |
Catel-Manzke Syndrome |
|
Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Umbilical hernia, O... |
OMIM:616145 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Atrial septal defect, Nonimmune hydrops fetalis, Polyhy... |
OMIM:616843 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Congenital Enterovirus Infection |
|
Respiratory distress, Hydrops fetalis, Myocarditis, Hypotension, Polyhydramnios, Cardiomyopathy, ... |
ORPHA:292 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Pericarditis, Pleural effusion |
ORPHA:85414 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Camptodactyly of finger, Patent ductus arteriosus |
ORPHA:2863 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Stroke, Systol... |
ORPHA:99103 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... |
ORPHA:99094 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Congenital, generalized hypertri... |
OMIM:239850 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Pulmonary edema, Left ventricular hypertrophy, Left... |
ORPHA:57777 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Alopecia totalis, Hyperventilation, Bradycardia, Muscle weakness, Pers... |
OMIM:618775 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Atrial septal defect, Tachycardia, Arrhythmia, Exercise... |
ORPHA:26793 |
Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Muscle weakness, External ophthalmoplegia, Hypertension, Hypertrophic cardiomyopathy,... |
ORPHA:225 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... |
ORPHA:3202 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Thoraco-Abdominal Enteric Duplication |
|
Respiratory insufficiency, Camptodactyly of finger, Dextrocardia, Meningocele, Abnormal tricuspid... |
ORPHA:1759 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Immunodeficiency 14A, Autosomal Dominant |
|
Cellulitis, Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cell... |
OMIM:615513 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Woolly Hair, Autosomal Dominant |
|
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Arrhythmia, Dilated cardiomyopathy, Hyper... |
OMIM:602390 |
Aspergillosis |
|
Asthma, Sinusitis, Stroke, Chronic pulmonary obstruction, Hypersensitivity pneumonitis, Intracran... |
ORPHA:1163 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Poor head control, Muscle fiber atrophy, Right ventricular hypertrop... |
ORPHA:324604 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Pulmonary arterial hyp... |
OMIM:619751 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Edema, Cerebellar atrophy, Ascites, Glo... |
OMIM:608776 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Transaldolase Deficiency |
|
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Ab... |
ORPHA:101028 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:617222 |
Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Respiratory insufficiency, Ar... |
ORPHA:732 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia |
OMIM:615297 |
Immunodeficiency 91 And Hyperinflammation |
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Pulmonary hemorrhage, Death in childhood, Abnormal pulmonary interstitial morphology, Recurrent l... |
OMIM:619644 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Knee flexion contracture, ... |
OMIM:603387 |
Pediatric Systemic Lupus Erythematosus |
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Raynaud phenomenon, Alopecia, Myositis, Muscle weakness, Pleural effusion, Edema, Dyspnea, Ascite... |
ORPHA:93552 |
Albinism-Deafness Syndrome |
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Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Avian Influenza |
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Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Rhabdomyo... |
ORPHA:454836 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
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Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Cardiomyopathy, Dilated, 1O |
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Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Reduced left ventricular ejection fraction, Respiratory failure, Flexion contracture, Arrhythmia,... |
ORPHA:258 |
Immune-Mediated Necrotizing Myopathy |
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Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... |
ORPHA:206569 |
Polycythemia Vera |
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Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Familial Cutaneous Collagenoma |
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Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
Dubin-Johnson Syndrome |
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Conjugated hyperbilirubinemia |
OMIM:237500 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Cardiomyopathy, Familial Hypertrophic, 26 |
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Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
Crigler-Najjar Syndrome, Type I |
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Unconjugated hyperbilirubinemia |
OMIM:218800 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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Abnormal heart morphology, T lymphocytopenia |
DECIPHER:16 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
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Thick eyebrow, Pericardial effusion, Widow's peak |
OMIM:614684 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair, Hyperbilirubinemia |
OMIM:609734 |
Naxos Disease |
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Sparse scalp hair, Abnormality of hair texture, Woolly hair, Sudden cardiac death, Paroxysmal ven... |
ORPHA:34217 |
8p23.1 deletion syndrome |
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Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
Idiopathic Pulmonary Arterial Hypertension |
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Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... |
ORPHA:275766 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Spl... |
OMIM:616860 |
Q Fever |
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Respiratory distress, Abnormal left ventricular function, Endocarditis, Abnormal pulmonary inters... |
ORPHA:781 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Atrial septal defect, Joint contracture of the hand, Thyroid lymphangiectasia, Pleural lymphangie... |
OMIM:235510 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Combined Oxidative Phosphorylation Deficiency 28 |
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Polyhydramnios, Ragged-red muscle fibers, Muscle weakness, Respiratory failure, Congestive heart ... |
OMIM:616794 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Abnormal pulmonary valve morphology, Flexion contracture, Hypertrophic cardiomyopathy, Camptodact... |
ORPHA:1194 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
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Poor head control, Flexion contracture, Respiratory insufficiency, Arrhythmia, Axial muscle weakn... |
ORPHA:157973 |
Sporadic Creutzfeldt-Jakob Disease |
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Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis, Respiratory fai... |
ORPHA:204 |
Timothy Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... |
OMIM:601005 |
Long Qt Syndrome 2 |
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Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Muscular Dystrophy, Duchenne Type |
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Hamstring contractures, Gowers sign, Congestive heart failure, Achilles tendon contracture, Flexi... |
OMIM:310200 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
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Granulomatous coronary arteritis, Vascular dilatation, Pleural effusion, Hypertension, Pericardia... |
OMIM:108050 |
Cranioacrofacial Syndrome |
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Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
Immunodeficiency 69 |
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Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Kaposiform Lymphangiomatosis |
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Epidural hemorrhage, Abnormal lymphatic vessel morphology, Cough, Abnormal lung morphology, Pleur... |
ORPHA:464329 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Predominantly lower limb lymphedema, Absent eyebrow, Alopecia, Sparse body hai... |
ORPHA:69735 |
Cardiomyopathy, Dilated, 2B |
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Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... |
ORPHA:477817 |
Brugada Syndrome |
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Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Atrial septal defect, Stroke, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Card... |
OMIM:249270 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
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Right aortic arch with mirror image branching |
OMIM:107500 |
Mulibrey Nanism |
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Myocardial fibrosis, Congestive heart failure, Hydrops fetalis, Recurrent lower respiratory tract... |
OMIM:253250 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Carotid artery calcification, Renal artery stenosis, Coronary artery calcification, Generalized a... |
OMIM:208000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Congestive heart failure, Pulmonary edema, Macroglossia, Hypotension, Shortened PR interval, Bive... |
OMIM:261740 |
Myopathy, Congenital, Nonprogressive |
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Atrial septal defect, Weakness of facial musculature, Apneic episodes in infancy, Polyhydramnios,... |
OMIM:619967 |
Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
Congenital Left Ventricular Aneurysm |
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Apnea, Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Cong... |
ORPHA:1055 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Cardiomyopathy, Familial Hypertrophic, 6 |
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Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... |
OMIM:600858 |
Cardiomyopathy, Familial Hypertrophic, 10 |
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Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Premature coronary artery atherosclerosis, Azoospermia, Oligospermia, Myocardial inf... |
OMIM:615703 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Lymphocytosis |
ORPHA:79087 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... |
OMIM:224120 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... |
OMIM:314400 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Progressive external ophthalmoplegia, Ophthalmoparesis, Ragged-red muscle fibers, Dilated cardiom... |
ORPHA:1349 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Double aortic arch, Tetralogy of Fallot, Pulmonary arter... |
OMIM:192430 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... |
OMIM:612946 |
Primary Intestinal Lymphangiectasia |
|
Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, Pleural effusion, Edema, Gener... |
ORPHA:90362 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy |
OMIM:614947 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Brain atrophy, Weakness of muscles of respiration, Distal muscle w... |
ORPHA:52430 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Respiratory failure, Congestive heart failure, Respiratory failure requiri... |
ORPHA:132 |
Hemochromatosis, Type 2B |
|
Secondary amenorrhea, Hyperpigmentation of the skin, Hypogonadism, Cardiomyopathy, Congestive hea... |
OMIM:613313 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter, Respiratory ... |
OMIM:616816 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Recurrent sinusitis, Situs inversus totalis, Neonatal respiratory distress, Bronchiectasis... |
OMIM:300991 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Mitral stenosis, Intermittent claudication, Stroke, Restrictive cardiomyopathy, ... |
OMIM:264800 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Chronic rhiniti... |
OMIM:615451 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Situs inversus totalis, Pu... |
OMIM:615415 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Inherited Creutzfeldt-Jakob Disease |
|
Senile plaques, Neuronal loss in central nervous system, Astrocytosis, Global brain atrophy, Musc... |
ORPHA:282166 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventricular ejecti... |
ORPHA:542323 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Congestive heart f... |
ORPHA:500533 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Asthma, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthro... |
OMIM:614262 |
Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
ORPHA:324588 |
Meige Disease |
|
Predominantly lower limb lymphedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema,... |
ORPHA:90186 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Respiratory insufficiency, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hyper... |
OMIM:617021 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Thymic Aplasia With Fetal Death |
|
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus |
OMIM:274210 |
Follicular Lymphoma |
|
Lymphedema, Pleural effusion |
ORPHA:545 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... |
OMIM:308240 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent sinusitis, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... |
OMIM:608644 |
Erdheim-Chester Disease |
|
Joint swelling, Abnormal pericardium morphology, Abnormal aortic valve morphology, Abnormal pulmo... |
ORPHA:35687 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... |
OMIM:616867 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Tricuspid regurgitation, Atrioventricular canal defect, Coarctation of aort... |
OMIM:618929 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Drug-Induced Lupus Erythematosus |
|
Dyspnea, Pericarditis, Pericardial effusion, Prolonged QTc interval |
ORPHA:231111 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Naxos Disease |
|
Sparse eyebrow, Sudden cardiac death, Right bundle branch block, Curly hair, Cardiomegaly, Abnorm... |
OMIM:601214 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Low anterior hairl... |
ORPHA:73272 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Neonatal death, Ventricular septal defect, Respiratory failure, Truncu... |
OMIM:228940 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Pontocerebellar Hypoplasia, Type 13 |
|
Asthma, Sleep apnea, Long eyelashes, Pleural effusion, Edema, Low posterior hairline, Recurrent r... |
OMIM:618606 |
Familial Ao |