Arterial Calcification, Generalized, Of Infancy, 1 |
|
Periarticular calcification, Carotid artery calcification, Hypophosphatemic rickets, Short statur... |
OMIM:208000 |
Alkaptonuria |
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Intervertebral disk calcification, Nephrolithiasis, Aortic valve calcification, Joint stiffness, ... |
ORPHA:56 |
Arteriosclerosis, Severe Juvenile |
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Chronic kidney disease, Short stature, Calcification of the aorta, Central retinal vessel vascula... |
OMIM:208060 |
Alkaptonuria |
|
Nephrolithiasis, Aortic valve calcification, Decreased glomerular filtration rate, Intervertebral... |
OMIM:203500 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Hypophosphatemic rickets, Myocardial infarction, Coronary artery calcification, Nephrocalcinosis,... |
OMIM:614473 |
Rare Circulatory System Disease |
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Intermittent claudication, Abnormality of finger, Arterial calcification, Abnormal metatarsal mor... |
ORPHA:98028 |
Calciphylaxis |
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Secondary hyperparathyroidism, Ectopic ossification, Arterial calcification |
ORPHA:280062 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Abnormal cardiovascula... |
ORPHA:289601 |
Pulmonary Alveolar Microlithiasis |
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Interlobular septal thickening, Stippled calcification in carpal bones, Subpleural interstitial t... |
ORPHA:60025 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... |
OMIM:175050 |
Calcification Of Joints And Arteries |
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Intervertebral disk calcification, Intermittent claudication, Femoral arterial calcification, Tib... |
OMIM:211800 |
Congenital Aortic Valve Stenosis |
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Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
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Basal ganglia calcification, Short stature, Calcification of the small brain vessels, Dense calci... |
OMIM:114100 |
Klippel-Trénaunay Syndrome |
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Peripheral arteriovenous fistula, Atrial septal defect, Tall stature, Hepatomegaly, Pulmonary emb... |
ORPHA:90308 |
Generalized Arterial Calcification Of Infancy |
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Stroke, Medial calcification of medium-sized arteries, Calcification of the auricular cartilage, ... |
ORPHA:51608 |
Gaucher Disease Type 3 |
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Aortic valve calcification, Hepatomegaly, Increased bone mineral density, Splenomegaly, Mitral va... |
ORPHA:77261 |
Distal Trisomy 14Q |
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Short stature, Abnormality of the upper urinary tract, Abnormal lung lobation, Patent ductus arte... |
ORPHA:1705 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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High-output congestive heart failure, Cerebral hemorrhage, Spinal arteriovenous malformation, Dil... |
OMIM:610655 |
Hypophosphatemic Rickets |
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Renal phosphate wasting, Joint stiffness, Fibrous dysplasia of the bones, Calcification of the ao... |
ORPHA:437 |
Gaucher Disease |
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Hepatomegaly, Osteopenia, Hematuria, Abnormal bone structure, Osteolysis, Proteinuria, Abnormal m... |
ORPHA:355 |
Atypical Werner Syndrome |
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Telangiectasia of the skin, Finger clinodactyly, Glycosuria, Osteolytic defects of the phalanges ... |
ORPHA:79474 |
Mucopolysaccharidosis Type 7 |
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Joint stiffness, Arteriovenous malformation, Abnormal hip bone morphology, Splenomegaly, Abnormal... |
ORPHA:584 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... |
ORPHA:391665 |
Spinal Arteriovenous Metameric Syndrome |
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Urinary bladder sphincter dysfunction, Arteriovenous malformation, Spinal arteriovenous malformat... |
ORPHA:53721 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... |
OMIM:600376 |
Aortic Valve Disease 2 |
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Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
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Joint contracture of the hand, Short stature, Osteopenia, Osteoporosis, Camptodactyly, Obesity |
OMIM:264010 |
Melorheostosis With Osteopoikilosis |
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Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Singleton-Merten Syndrome 1 |
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Expanded metacarpals with widened medullary cavities, Aortic arch calcification, Tendon rupture, ... |
OMIM:182250 |
Gaucher Disease, Type Iiic |
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Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Calcification of the aor... |
OMIM:231005 |
Familial Multiple Nevi Flammei |
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Arteriovenous malformation, Cerebral calcification, Intracranial hemorrhage, Pulmonary embolism, ... |
ORPHA:624 |
Non-Involuting Congenital Hemangioma |
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Telangiectasia of the skin, Subcutaneous calcification, Peripheral arteriovenous fistula, Promine... |
ORPHA:141179 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Osteopenia, Osteoporosis |
OMIM:615269 |
Parkes Weber Syndrome |
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Abnormal femoral metaphysis morphology, Arteriovenous malformation, Nephrotic syndrome, Periphera... |
ORPHA:90307 |
Capillary Malformation-Arteriovenous Malformation |
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Abnormal heart morphology, Arteriovenous malformation, High-output congestive heart failure, Peri... |
ORPHA:137667 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Joint stiffness, Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Abnormal hip bone mor... |
ORPHA:1166 |
Familial Bicuspid Aortic Valve |
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Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
Immunodeficiency 12 |
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Growth delay, Osteoporosis |
OMIM:615468 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
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Recurrent fractures, Arteriovenous malformation, Reduced bone mineral density, Venous insufficien... |
ORPHA:137608 |
Adams-Oliver Syndrome |
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Short distal phalanx of finger, Absent hand, Arteriovenous malformation, Abnormal pulmonary valve... |
ORPHA:974 |
Rapidly Involuting Congenital Hemangioma |
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Telangiectasia of the skin, Subcutaneous calcification, Peripheral arteriovenous fistula, Promine... |
ORPHA:141184 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Arteriovenous malformation, Abnormal hip bone morphology, Genu varum, Abnormal aortic arch morpho... |
ORPHA:1110 |
Pelizaeus-Merzbacher Disease |
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Joint stiffness, Arteriovenous malformation, Short stature, Abnormality of the urinary system, Re... |
ORPHA:702 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Telangiectasia of the skin, Arteriovenous malformation, Arrhythmia, Cerebral ischemia, Hand polyd... |
ORPHA:60040 |
Arterial Dissection-Lentiginosis Syndrome |
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Arteriovenous malformation, Arterial dissection |
ORPHA:1682 |
Wyburn-Mason Syndrome |
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Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... |
ORPHA:53719 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Femoral bowing, Cystic renal dysplasia, E... |
OMIM:615415 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Bacterial endocarditis, Aortic valve calcification, Splenomegaly, Calcification of the aorta, Hep... |
ORPHA:2072 |
Osteomesopyknosis |
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Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Phakomatosis Pigmentovascularis |
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Cerebral calcification, Arteriovenous malformation, Reduced bone mineral density |
ORPHA:2875 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Calcificatio... |
OMIM:177850 |
Gaucher Disease, Type Iii |
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Vascular calcification, Hepatomegaly, Splenomegaly, Short stature |
OMIM:231000 |
Cutis Marmorata Telangiectatica Congenita |
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Telangiectasia of the skin, Arteriovenous malformation, Subcutaneous hemorrhage, Reduced bone min... |
ORPHA:1556 |
Capillary Malformation-Arteriovenous Malformation 1 |
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Arteriovenous malformation, Arteriovenous fistula |
OMIM:608354 |
Heart Defects-Limb Shortening Syndrome |
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Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
Melorheostosis |
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Joint stiffness, Peripheral arteriovenous fistula, Increased bone mineral density, Arthritis, Hyp... |
ORPHA:2485 |
Blue Rubber Bleb Nevus |
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Arteriovenous malformation, Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Double Outlet Right Ventricle |
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Double outlet right ventricle, Abnormality of cartilage of external ear, Hypoplastic left heart, ... |
ORPHA:3426 |
Congenital Heart Defects, Multiple Types, 3 |
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Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... |
OMIM:614954 |
Truncus Arteriosus |
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Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... |
ORPHA:3384 |
Nephronophthisis 16 |
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Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
Hutchinson-Gilford Progeria Syndrome |
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Angina pectoris, Abnormal mitral valve morphology, Stroke, Limitation of movement at ankles, Myoc... |
ORPHA:740 |
Coronary Arterial Fistula |
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Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... |
ORPHA:2041 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Carotid artery dilatation, Short stature, Osteopenia, Recurrent upper respiratory tract infection... |
ORPHA:391487 |
Cerebral Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:46724 |
Hereditary Hemorrhagic Telangiectasia |
|
Nephrolithiasis, Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous... |
ORPHA:774 |
Trimethylaminuria |
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Splenomegaly, Tachycardia, Recurrent pneumonia, Trimethylaminuria, Hypertension |
OMIM:602079 |
Juvenile Polyposis Syndrome |
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Growth delay, Arteriovenous malformation, Abnormal onset of bleeding, Hepatic arteriovenous malfo... |
ORPHA:2929 |
Vein Of Galen Aneurysmal Malformation |
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Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Unilateral Polymicrogyria |
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Abnormal heart morphology, Epistaxis, Stroke, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Kaposiform Lymphangiomatosis |
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Abnormality of femur morphology, Bruising susceptibility, Splenomegaly, Abnormal bleeding, Fractu... |
ORPHA:464329 |
Cardiomyopathy, Dilated, 2G |
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Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... |
OMIM:619897 |
Endosteal Hyperostosis, Worth Type |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
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Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature |
OMIM:608278 |
Atrial Septal Defect, Sinus Venosus Type |
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Supraventricular arrhythmia, Anomalous pulmonary venous return, Stroke, Atrial arrhythmia, Systol... |
ORPHA:99105 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
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Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615271 |
Extensor Tendons Of Finger Anomalies |
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Camptodactyly of finger, Limitation of joint mobility, Osteoporosis |
ORPHA:3294 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
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Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno... |
OMIM:265450 |
Holt-Oram Syndrome |
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Anomalous pulmonary venous return, Absent thumb, Atrioventricular canal defect, Down-sloping shou... |
ORPHA:392 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Heart murmur, Basilar artery calcification, Transient ischemic attack, Cardiomegaly... |
ORPHA:365 |
Aicardi-Goutières Syndrome |
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Multiple joint contractures, Micropenis, Cerebral calcification, Calcification of the aorta, Shor... |
ORPHA:51 |
Renal Tubular Dysgenesis |
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Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis, Pulmonary hypopla... |
ORPHA:3033 |
Immunodeficiency, Common Variable, 6 |
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Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Pulmonary Arteriovenous Malformation |
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Telangiectasia, Bacterial endocarditis, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Abnorm... |
ORPHA:2038 |
Fanconi Anemia |
|
Abnormality of femur morphology, Arteriovenous malformation, Abnormal cardiac septum morphology, ... |
ORPHA:84 |
Storm Syndrome |
|
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... |
OMIM:185069 |
Absence Of The Pulmonary Artery |
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Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... |
ORPHA:980 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Currarino Syndrome |
|
Hypospadias, Arteriovenous malformation, Vesicoureteral reflux, Hypoplasia of penis |
ORPHA:1552 |
Meacham Syndrome |
|
Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, ... |
OMIM:608978 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Flexion contracture, Micropenis, Tachycardia, Tapered finger, Ventricular s... |
OMIM:613870 |
Classic Homocystinuria |
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Joint stiffness, Arteriovenous malformation, Recurrent fractures, Hepatomegaly, Disproportionate ... |
ORPHA:394 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Arteriovenous malformation, Tall stature, Short stature, Subcutaneous hemorrhage... |
ORPHA:109 |
Cardiac Diverticulum |
|
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Stroke, Absent ankle pulse, Myocardial infarction, Limb muscle weak... |
ORPHA:90064 |
Premature Ovarian Failure 2B |
|
Osteoporosis, Delayed puberty |
OMIM:300604 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Polyuria, Pulmonary arteriovenous malformation, Lower limb muscle weakne... |
OMIM:606721 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Variant Abeta2M Amyloidosis |
|
Cardiovascular calcification, Chronic kidney disease, Cardiac amyloidosis, Abnormal skeletal musc... |
ORPHA:314652 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... |
ORPHA:1120 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Cerebral calcification, Enlarged kidney, Proteinuria, Nephrotic syndrome, Flared il... |
OMIM:617303 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal bone ossification, Short stature, Abnormal trabecular b... |
ORPHA:79106 |
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas |
|
Arteriovenous fistula |
OMIM:600419 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short humerus, Enlarg... |
OMIM:314390 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Short stature |
ORPHA:2204 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Short stature,... |
ORPHA:2410 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion |
OMIM:234810 |
Hennekam Syndrome |
|
Arteriovenous malformation, Finger syndactyly, Chylothorax, Mild postnatal growth retardation, Sp... |
ORPHA:2136 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... |
OMIM:618845 |
Parkes weber syndrome |
|
Arteriovenous fistula |
OMIM:608355 |
Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... |
OMIM:600884 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogen... |
ORPHA:449285 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Calc... |
OMIM:211900 |
Hyaline Fibromatosis Syndrome |
|
Failure to thrive, Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion... |
OMIM:228600 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation |
OMIM:114065 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Short stature, Flexion cont... |
ORPHA:1306 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Stroke-like ... |
ORPHA:563 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Short stature, Limitation of joint mobility, Pathologic fracture |
ORPHA:166277 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density |
ORPHA:970 |
Dural Sinus Malformation |
|
Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal facial vein mor... |
ORPHA:97339 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Organic aciduria, Fatty replacement of skeletal muscle, Cardiomyopa... |
OMIM:255100 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:1802 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Calcification of the small brain vessels, Dense calcifications in the cerebellar dentate nucleus,... |
OMIM:213600 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Pulmonary hypoplasia, Small... |
OMIM:184260 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Reduced bone mineral density, Short stature, Thin bony cortex, Decreased cir... |
OMIM:619795 |
Cockayne Syndrome Type 3 |
|
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Mild postnatal growth ret... |
ORPHA:90324 |
Variegate Porphyria |
|
Porphyrinuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tac... |
OMIM:176200 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... |
ORPHA:216694 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... |
ORPHA:2306 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Thymic Aplasia With Fetal Death |
|
Ureteral agenesis, Pulmonary hypoplasia, Truncus arteriosus, Renal agenesis |
OMIM:274210 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Renal hypoplasia/aplasia, Renal agenesis, Abnorm... |
ORPHA:2516 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Tachycardia, Foam cells, Acute infectious pneumonia |
ORPHA:264675 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Elevated cir... |
OMIM:600785 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Stroke, Premature ventricular contraction... |
OMIM:601154 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Prolonged bleed... |
OMIM:618280 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty, Hypogonadism |
OMIM:615270 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation, Abnormal trabecular bone morphology, Thin bony ... |
ORPHA:75508 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Short stature, Sudden cardiac death, Tachycardia, Coarctation of aorta, Cardiomegal... |
OMIM:614921 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Tracheomalacia, Absent in utero rib ossification, Cystic renal dysplasia, Enlar... |
OMIM:608022 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticomedulla... |
OMIM:616733 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Horseshoe kidney, Intra... |
OMIM:601186 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Left... |
OMIM:604169 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Short stature, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular s... |
OMIM:612946 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Congenital hip dislocation, Enlarged kidney, Ventric... |
OMIM:306955 |
H Syndrome |
|
Recurrent fractures, Micropenis, Short stature, Abnormality of the kidney, Hepatosplenomegaly, Ca... |
ORPHA:168569 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Oligomeganephronia |
|
Secundum atrial septal defect, Congenital diaphragmatic hernia, Decreased glomerular filtration r... |
ORPHA:2260 |
Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Right ventricular hypertrophy, Microp... |
ORPHA:335 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Micropenis, Short stature, Mitral regurgitation, Pulmonary insuffi... |
ORPHA:2326 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Pneumothorax, Myocardial infarct... |
ORPHA:90068 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Brachydactyly, Pulmonary artery atresia, Truncus ar... |
ORPHA:401935 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Lower limb muscle weakness, Functional abnormality of the bladder, Urinary... |
ORPHA:79093 |
Metatropic Dysplasia |
|
Joint stiffness, Coarse metaphyseal trabecularization, Severe short stature, Camptodactyly of fin... |
ORPHA:2635 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Hypospadias, Cutaneous synd... |
OMIM:618316 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Absence of pubertal development, Osteopenia, Osteoporosis, Hypogonadism |
OMIM:615267 |
Superficial Siderosis |
|
Arteriovenous malformation, Persistent bleeding after trauma, Abnormal bleeding, Abnormal vertebr... |
ORPHA:247245 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Severe short stature, Osteoporosis |
OMIM:204730 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Tapered finger, Enlarged kidney, Intracerebral periventricular calcifications, Card... |
OMIM:608836 |
Proteus Syndrome |
|
Arteriovenous malformation, Disproportionate tall stature, Craniosynostosis, Calvarial hyperostos... |
ORPHA:744 |
Glomuvenous Malformation |
|
Arteriovenous malformation, Abnormal renal morphology, Abnormal digit morphology, Venous malforma... |
ORPHA:83454 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal lung lobation, Abnormal metacarpa... |
ORPHA:2631 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Enlarged kidney,... |
OMIM:252500 |
Autosomal Recessive Primary Microcephaly |
|
Growth delay, Abnormal cortical bone morphology, Short stature |
ORPHA:2512 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Flexion contracture, Skeletal muscle hypertrophy, Splenomegaly, Osteopenia, Muscula... |
OMIM:613327 |
Andersen-Tawil Syndrome |
|
Bidirectional ventricular ectopy, Prolonged QT interval, Renal tubular dysfunction, Torsade de po... |
ORPHA:37553 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Angioosteohypertrophic Syndrome |
|
Tricuspid valve prolapse, Telangiectasia of the skin, Peripheral arteriovenous fistula, Hand olig... |
ORPHA:2346 |
Timothy Syndrome |
|
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Pat... |
OMIM:601005 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Cockayne Syndrome |
|
Hepatomegaly, Abnormal renal physiology, Cerebral calcification, Limb hypertonia, Subcortical whi... |
ORPHA:191 |
Thanatophoric Dysplasia |
|
Intrauterine growth retardation, Disproportionate short-limb short stature, Joint stiffness, Atri... |
ORPHA:2655 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... |
OMIM:618719 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pulmonary edema, Hepatomegaly, Tach... |
ORPHA:137675 |
Keutel Syndrome |
|
Short distal phalanx of finger, Short stature, Tracheal atresia, Recurrent sinusitis, Calcificati... |
ORPHA:85202 |
Ck Syndrome |
|
Slender build, Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
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 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Enlarged kidney, Ventricular septal defect, Rhizomelia, ... |
ORPHA:79328 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Tall stature, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient... |
ORPHA:91387 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Overlapping toe, Atrial septal defect, Systolic heart murmur, Tetralogy of Fal... |
OMIM:617478 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Bicuspid aortic v... |
OMIM:132900 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Proteus Syndrome |
|
Calvarial hyperostosis, Thin bony cortex, Venous malformation, Mandibular hyperostosis, Facial hy... |
OMIM:176920 |
Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Tall stature, Micropenis, Aplasia/Hypoplasia of the abdominal wall musc... |
ORPHA:1926 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Slender finger, Long fingers, Patent ductus arterios... |
OMIM:613355 |
Osteogenesis Imperfecta, Type Vii |
|
Coxa vara, Wide anterior fontanel, Bowing of the legs, Recurrent fractures, Short stature, Femora... |
OMIM:610682 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Subpleural interstitial thickening, Multiple pulmona... |
ORPHA:79128 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis |
ORPHA:1525 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Pneumonia, Decreased urine ... |
ORPHA:340 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Patent duc... |
ORPHA:228190 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Clinodactyly of the 5th finger, Bicuspid aortic valve, Pseudocoarctation of the aorta,... |
OMIM:604381 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hemothorax, Diffuse alveolar hemorrhage, Right v... |
ORPHA:199241 |
Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Aortic valve stenosis, Hypoplasia of ... |
ORPHA:3097 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... |
OMIM:263200 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arter... |
ORPHA:286 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Nephrolithiasis, Clinodactyly of the 5th finger, Hydroureter, Tapered finger, Vesicoureteral refl... |
OMIM:617219 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Caffey Disease |
|
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... |
ORPHA:1310 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short stature, Hypo... |
ORPHA:93296 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... |
OMIM:612158 |
Caffey Disease |
|
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... |
OMIM:114000 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Hepatomegaly, Short stature, Splenomegaly, Ventricular septal defect, Paten... |
ORPHA:290 |
Classical Ehlers-Danlos Syndrome |
|
Tricuspid valve prolapse, Orthostatic hypotension, Osteopenia, Phalangeal dislocation, Arterial r... |
ORPHA:287 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Joint hyperflexibility, Decreased skull ossification, Short st... |
ORPHA:2097 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect, Alveolar cap... |
OMIM:265380 |
Klippel-Trenaunay-Weber Syndrome |
|
Hand oligodactyly, Syndactyly, Arteriovenous fistula, Hand polydactyly, Macrodactyly |
OMIM:149000 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Cerebral calcification, Heparan sulfate excretion in urine, Enlarged kidney, Proteinuria, Abnorma... |
ORPHA:505248 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Overlapping fingers, Pulmonary hypoplasia, Knee flexion con... |
OMIM:616531 |
Renal Nutcracker Syndrome |
|
Vulval varicose vein, Orthostatic hypotension, Tachycardia, Hematuria, Microscopic hematuria, Syn... |
ORPHA:71273 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Fibromuscular Dysplasia, Arterial |
|
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... |
OMIM:135580 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Ogden Syndrome |
|
Congenital hip dislocation, Enlarged kidney, Broad hallux, Left atrial enlargement, Ventricular s... |
OMIM:300855 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Distal Tetrasomy 15Q |
|
Atrial septal defect, Flexion contracture, Craniosynostosis, Arachnodactyly, Abnormality of the k... |
ORPHA:314588 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Tachycardia, Hypotension, Respiratory tract infection, Pneumonia, Cardiac arrest... |
ORPHA:70587 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Phaver Syndrome |
|
Joint stiffness, Broad hallux phalanx, Camptodactyly of finger, Coarctation of aorta, Ulnar devia... |
ORPHA:2876 |
Dextrocardia |
|
Congenital malformation of the great arteries, Abnormality of the ureter, Congenital hip dislocat... |
ORPHA:1666 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
Alg3-Cdg |
|
Macroglossia, Osteopenia, Coarctation of the descending aortic arch, Abnormality of limb bone mor... |
ORPHA:79321 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment eleva... |
ORPHA:263297 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... |
OMIM:620067 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Tracheal atresia, Bilateral lung agenesis, Coarctation of aor... |
OMIM:601612 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Primary Pulmonary Hypoplasia |
|
Intrauterine growth retardation, Secundum atrial septal defect, Ureteral stenosis, Abnormal hemid... |
ORPHA:2257 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Nephroblastoma, Overgrowth, Enlarged kidney, Abnormal venous morpholo... |
ORPHA:276280 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Atrial septal defect, Hepatomegaly, Splenomegaly, Enlarged kidney, Situs i... |
OMIM:208540 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Bicuspid aortic valve, Disproportionate tall stature, Ascending aortic dissection, Arthritis, Aor... |
OMIM:619825 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... |
OMIM:612474 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction... |
ORPHA:542323 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Short stature, Paroxysmal atrial tachycardia, Ventricular septal de... |
ORPHA:49827 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Pne... |
ORPHA:99103 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Left bundle branch block, Sinus bradycardia, Abnormal renal medulla morph... |
ORPHA:439232 |
Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Upper limb muscle weakness, Vasculitis, Cerebral ischemia, Total... |
ORPHA:494424 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Failure to thrive, ... |
OMIM:600081 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Abnormal mitral valve morphology, Abnormal pulmonary valve morphology, Short... |
ORPHA:500 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Stroke, Hepatomegaly, Atrioventricular canal defect... |
ORPHA:97214 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... |
ORPHA:99104 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Protein... |
OMIM:171420 |
16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Atrial septal defect, Prominent fingertip pads, Clinodactyly of the 4th finge... |
ORPHA:485405 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Clinodactyly of the 5th finger, Short stature, Pulmonic stenosis, Spina bifida occulta... |
OMIM:617877 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Disproportionate tall stature, Arachnodactyly, Aortic tortuosity, Ascen... |
OMIM:616166 |
8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hypoplastic left heart, Shor... |
ORPHA:251071 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Metaphyseal spurs, Postaxial polydactyly, Preaxial polydactyly, F... |
OMIM:613091 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Short stature, Hypertension,... |
OMIM:232200 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility, Short stature |
ORPHA:1486 |
Distal Monosomy 15Q |
|
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... |
ORPHA:1596 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Glycogen accumulation in muscle fiber lysosomes, Chronic kidney disease, Recurrent my... |
ORPHA:368 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Epis... |
OMIM:171300 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Finger joint hypermobility, Osteopenia, Ve... |
ORPHA:363705 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Renal insufficiency, Abnormal aortic morphology, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Micropenis, Flared ... |
OMIM:616897 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Long hallux, Tibial bowing, Macroglossia, Proportionate tall stature, Multicystic kidney dysplasi... |
ORPHA:500095 |
Familial Dysautonomia |
|
Recurrent fractures, Orthostatic hypotension, Abnormality of the kidney, Tachycardia, Abnormal pl... |
ORPHA:1764 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... |
OMIM:601493 |
Mosaic Trisomy 1 |
|
2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, Pulmonary hypoplasia, Comp... |
ORPHA:1692 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Cutaneous syndactyly, Brachydactyly, Ureteral... |
OMIM:236500 |
Hutchinson-Gilford Progeria Syndrome |
|
Growth delay, Premature coronary artery atherosclerosis, Osteolysis, Generalized osteoporosis, Pr... |
OMIM:176670 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Short stature, Hypospadias, C... |
ORPHA:2311 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P... |
ORPHA:75249 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot... |
ORPHA:261243 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Micropenis |
OMIM:618021 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Atrial septal defect, Hypospadias, Syndactyly, Coarctation of aort... |
ORPHA:1708 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Lacticaciduria, Pulmonary arterial ... |
OMIM:619003 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Gorham-Stout Disease |
|
Abnormal bone ossification, Osteomyelitis, Osteolysis involving bones of the lower limbs, Osteope... |
ORPHA:73 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Clinodactyly of the 5th fi... |
OMIM:300707 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital... |
ORPHA:2847 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Wide anterior fontanel, Congenital diaphragmatic hernia, Narrow greater sciatic notch, Flexion co... |
OMIM:263210 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Urethritis, Ureteral obstruction, Hematuria, Renal interstitial immun... |
ORPHA:449395 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618187 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pul... |
OMIM:616867 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Urogenital sinus anomaly, Chordee, Bicuspid aortic valve, Micropenis, Short stature, Hypospadias,... |
ORPHA:1772 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Arrhythmia, Ven... |
ORPHA:26793 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Disproportionate short-limb short stature, Overgrowth, Pulmonary hypoplasia, Bowing of the long b... |
OMIM:224410 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Osteoporosis, Diabetes mellitus, ... |
OMIM:610628 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Intrauterine growth retardation, Abnormal left ventricular functio... |
OMIM:301056 |
Cholera |
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Abnormality of renal excretion, Stroke, Hypovolemic shock, Aspiration pneumonia, Tachycardia, Hyp... |
ORPHA:173 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Bacterial Toxic-Shock Syndrome |
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Osteomyelitis, Tachycardia, Recurrent urinary tract infections, Myositis, Myocarditis, Hypotensio... |
ORPHA:36234 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Coenzyme Q10 Deficiency, Primary, 7 |
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Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Intrauterine growt... |
OMIM:616276 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Aspiration pneumonia, Tachycardia, Abnormal heart morphology |
ORPHA:79264 |
Larsen-Like Syndrome, Lethal Type |
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Pulmonary insufficiency, Pulmonary hypoplasia, Abnormal cartilage matrix, Tracheomalacia |
OMIM:245650 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Abdominal obesity, Increased circulating cortisol level, Increased body weight, Osteoporosis, Mac... |
OMIM:615954 |
Congenital Heart Defects, Multiple Types, 7 |
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Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Recurrent fractures, Short stature, Craniosynostosis, Macroscopic hematuria, Membranoproliferativ... |
ORPHA:251004 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent... |
OMIM:264700 |
Idiopathic Hypercalciuria |
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Osteopenia, Osteoporosis |
ORPHA:2197 |
Loeys-Dietz Syndrome 4 |
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Torticollis, Bicuspid aortic valve, Tall stature, Bruising susceptibility, Arachnodactyly, Aortic... |
OMIM:614816 |
Cat Eye Syndrome |
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Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Short stature, Pulmonic stenosis... |
OMIM:115470 |
Tonne-Kalscheuer Syndrome |
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Congenital diaphragmatic hernia, Micropenis, Short stature, Hypospadias, Brachydactyly, Broad thu... |
OMIM:300978 |
Tatton-Brown-Rahman Syndrome |
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Short toe, Atrial septal defect, Widely spaced toes, Tricuspid regurgitation, Proportionate tall ... |
ORPHA:404443 |
Pagod Syndrome |
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Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Hypoplastic left heart, Short stature,... |
ORPHA:991 |
Estrogen Resistance Syndrome |
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Delayed epiphyseal ossification, Hyperinsulinemia, Absence of pubertal development, Osteopenia, A... |
ORPHA:785 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Interlobular septal thickening, Desquamative interstitial pneumonitis, Intraalveolar phospholipid... |
OMIM:265120 |
Contractural Arachnodactyly, Congenital |
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Disproportionate tall stature, Osteopenia, Increased upper to lower segment ratio, Ulnar deviatio... |
OMIM:121050 |
Primary Ciliary Dyskinesia |
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Double outlet right ventricle, Abnormal heart morphology, Anomalous pulmonary venous return, Recu... |
ORPHA:244 |
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 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
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Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Tachycardia, Intrauterine growth retardation, Lower limb muscle weakness |
OMIM:619737 |
Hereditary Coproporphyria |
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Dark urine, Proximal muscle weakness in lower limbs, Increased urinary porphobilinogen, Nephropat... |
ORPHA:79273 |
Scorpion Envenomation |
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Bundle branch block, Ketonuria, Pulmonary edema, Stroke, Premature ventricular contraction, ST se... |
ORPHA:466677 |
Lethal Congenital Contracture Syndrome 10 |
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Torticollis, Adducted thumb, Overlapping fingers, Ventricular septal defect, Stiff neck, Pulmonar... |
OMIM:617022 |
Crimean-Congo Hemorrhagic Fever |
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Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hemothorax, Hematuria, Myocarditis, Pr... |
ORPHA:99827 |
Cardiomyopathy, Familial Hypertrophic, 14 |
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Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Pulmonary Hypertension, Primary, 1 |
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Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis... |
OMIM:178600 |
Atrial Septal Defect, Ostium Primum Type |
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Systolic heart murmur, Left atrial enlargement, Right bundle branch block, Atrioventricular block... |
ORPHA:99106 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Atrial septal defect, Short stature, Postaxial hand polydactyly, Ventricular septal defect, Renal... |
ORPHA:75389 |
Right Atrial Isomerism |
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Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
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Hip contracture, Internally rotated shoulders, Flexion contracture, Scapular winging, Camptodacty... |
OMIM:617468 |
Heterotaxy, Visceral, 4, Autosomal |
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Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Short distal phalanx of finger, Abnormal cartilage matrix, Abnormal bone structure, Pulmonary hyp... |
ORPHA:86822 |
Aorta Coarctation |
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Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Alagille Syndrome 2 |
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Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... |
OMIM:610205 |
Congenital Heart Defects, Multiple Types, 5 |
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Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... |
OMIM:617912 |
3C Syndrome |
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Abnormal mitral valve morphology, Aortic valve stenosis, Hypoplasia of penis, Atrial septal defec... |
ORPHA:7 |
Hypoplastic Left Heart Syndrome 1 |
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Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
Degcags Syndrome |
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Hepatomegaly, Abnormal renal medulla morphology, Craniosynostosis, Osteopenia, Ventricular septal... |
OMIM:619488 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
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Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Idiopathic Neonatal Atrial Flutter |
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Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Tibial bowing, Radial bowing, Splenomegaly, Cerebral calcification, Abnormally ossified vertebrae... |
ORPHA:3035 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Stroke, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... |
OMIM:115197 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Failure t... |
ORPHA:289157 |
Serkal Syndrome |
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Congenital diaphragmatic hernia, Abnormal penis morphology, Hypospadias, Pulmonic stenosis, Renal... |
ORPHA:139466 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
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2-3 toe syndactyly, Short 2nd finger, Atrial septal defect, Secundum atrial septal defect, Short ... |
OMIM:600987 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Short sternum, Hepatomegaly, Tall stature, 2-3 finger syndactyly, Enlarged kidney, Ventricular se... |
OMIM:312870 |
Paroxysmal Extreme Pain Disorder |
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Tachycardia, Bradycardia |
OMIM:167400 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Palpitations, Tachycardia, Hepatomegaly, Syncope |
ORPHA:324575 |
Heterotaxy, Visceral, 5, Autosomal |
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Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Nphp3-Related Meckel-Like Syndrome |
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Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia |
ORPHA:3032 |
Congenital Factor X Deficiency |
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Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Dicarboxylic acidur... |
OMIM:212138 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Short distal phalanx of finger, Postaxial polydactyly, Short stature, Hypospadias, Brachydactyly,... |
OMIM:614091 |
Autoimmune Hypoparathyroidism |
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Abnormal left ventricular function, Increased bone mineral density, Ventricular arrhythmia, Calci... |
ORPHA:36913 |
Tularemia |
|
Pleural effusion, Tachycardia, Pneumonia |
ORPHA:3392 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac... |
OMIM:241530 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Reduce... |
ORPHA:2235 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
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Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Clubbing of fingers, ... |
OMIM:605676 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Short 1st metacarpal, Cone-shaped epiphysis, Moyamoya phenomenon, Proximal femoral epiphysiolysis... |
OMIM:210720 |
Fanconi Anemia, Complementation Group B |
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Absent thumb, Micropenis, Renal agenesis, Tracheoesophageal fistula, Coarctation of aorta, Abnorm... |
OMIM:300514 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Recurrent infections due to aspiration, Abnormal renal physiology, Orthostatic hypotension, Tachy... |
OMIM:223900 |
Acrocephalopolydactylous Dysplasia |
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Hepatomegaly, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney, Postaxial hand polydacty... |
OMIM:200995 |
Chops Syndrome |
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Cervical C2/C3 vertebral fusion, Anomalous pulmonary venous return, Short stature, Aspiration pne... |
OMIM:616368 |
Atelosteogenesis, Type Ii |
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Lacunar halos around chondrocytes, Bifid humerus, Short middle phalanx of finger, Sandal gap, Pul... |
OMIM:256050 |
Renal Hypodysplasia/Aplasia 4 |
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Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
Ethylene Glycol Poisoning |
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Renal tubular dysfunction, Pulmonary edema, Facial palsy, Tachycardia, Hematuria, Hypotension, At... |
ORPHA:31826 |
Marden-Walker Syndrome |
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Wide anterior fontanel, Joint contracture of the hand, Micropenis, Arachnodactyly, Hypospadias, C... |
OMIM:248700 |
Vitamin D-Dependent Rickets, Type 2A |
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Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent... |
OMIM:277440 |
Aortic Arch Interruption |
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Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Bladder diverticulum, Tracheomalacia, Sandal gap, Vascular dilatation, Pulmonary hypoplasia, Emph... |
OMIM:613177 |
Periventricular Nodular Heterotopia 1 |
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Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Syndactyly, Patent ductus arteriosus, Clinoda... |
OMIM:300049 |
Saul-Wilson Syndrome |
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Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... |
OMIM:618150 |
Greenberg Dysplasia |
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Laryngeal calcification, Anterior rib punctate calcifications, Hepatomegaly, Rhizomelia, Pulmonar... |
OMIM:215140 |
Supravalvular Aortic Stenosis |
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Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ... |
OMIM:185500 |
Atrial Fibrillation, Familial, 15 |
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Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... |
OMIM:615770 |
Noonan Syndrome 9 |
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Short stature, Pulmonic stenosis, Hydroureter, Coarctation of aorta, Ventricular septal defect, P... |
OMIM:616559 |
Methimazole Embryofetopathy |
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Hypospadias, Tracheoesophageal fistula, Coarctation of aorta, Ventricular septal defect, Intraute... |
ORPHA:1923 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac... |
OMIM:300554 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
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Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Congenital Megacalycosis |
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Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Autosomal Recessive Cutis Laxa Type 1 |
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Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Supravalvular aortic steno... |
ORPHA:90349 |
Czeizel-Losonci Syndrome |
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Ectrodactyly, Split foot, Congenital megaureter, Tracheoesophageal fistula, 2-3 finger syndactyly... |
ORPHA:2437 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... |
OMIM:208500 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemor... |
ORPHA:363618 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Short stature, Arachnodactyly, Hypospadias... |
OMIM:617602 |
Caudal Regression Syndrome |
|
Joint stiffness, Abnormal iliac wing morphology, Renal agenesis, Abnormal vertebral segmentation ... |
ORPHA:3027 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Short stature, Splenomegaly,... |
OMIM:232220 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Recurrent fractures, Abnormality of finger, Abnormality of toe, Hypophosphatemic ri... |
OMIM:163200 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Os... |
ORPHA:371428 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, C... |
OMIM:619343 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Micropenis, Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pa... |
OMIM:600460 |
Atelosteogenesis Type I |
|
Abnormal ossification involving the femoral head and neck, Short femur, Neonatal short-trunk shor... |
ORPHA:1190 |
Marfan Syndrome |
|
Disproportionate tall stature, Osteopenia, Aortic tortuosity, Arthralgia/arthritis, Spontaneous p... |
ORPHA:558 |
Grange Syndrome |
|
Recurrent fractures, Bicuspid aortic valve, Coronary artery stenosis, Syndactyly, Brachydactyly, ... |
OMIM:602531 |
Congenital Tracheomalacia |
|
Tracheoesophageal fistula, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Cardiomega... |
ORPHA:95430 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Relapsing Fever |
|
Abnormal bleeding, Abnormality of the urinary system, Tachycardia, Hematuria, Hypotension, Acute ... |
ORPHA:91547 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Mercury Poisoning |
|
Interstitial pneumonitis, Tachycardia, Hypotension, Acute kidney injury, Hypertension |
ORPHA:330021 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Pallister-Hall-Like Syndrome |
|
Micropenis, Renal dysplasia, Postaxial hand polydactyly, Pulmonary hypoplasia, Hip dislocation, A... |
OMIM:241800 |
Alport Syndrome |
|
Glomerular C3 deposition, Hematuria, Thickened glomerular basement membrane, Proteinuria, Thin gl... |
ORPHA:63 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Syncope, Tachycardia, Premature ventricular contraction, Aplasia/Hypoplasia of the distal phalang... |
OMIM:192445 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia |
OMIM:614096 |
Scleromyxedema |
|
Stroke, Raynaud phenomenon, Abnormal skeletal muscle morphology, Abnormality of the kidney, Abnor... |
ORPHA:167635 |
Diamond-Blackfan Anemia 20 |
|
Total anomalous pulmonary venous return, Acetabular dysplasia |
OMIM:618313 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology, Abnormality of the thyroid gland, Severe short stature |
ORPHA:3344 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Disproportionate tall stature, Osteopenia, Aortic dissection, Hip subluxation, Limb muscle weakne... |
ORPHA:1900 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp... |
ORPHA:93108 |
Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Hyperphalangy of the 2nd finger, Ulnar deviation of the 2nd finge... |
OMIM:616145 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... |
OMIM:612124 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Hypoplasia of penis, Macroglossia, Micropenis, Short stature, Hypospadias,... |
ORPHA:261494 |
Tetanus |
|
Tachycardia, Hypertension, Elevated urinary epinephrine, Stiff neck, Elevated urinary norepinephr... |
ORPHA:3299 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Hepatomegaly, Osteopenia, Gout, Enlarged kidney, Proteinuria, Hype... |
ORPHA:79259 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Renal agenesis, Hypospadias, Bilateral lung agenesis, Hypoplasia... |
OMIM:611812 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Abnormality of the urinary system, Anomalous pulmonary venous return, Patent ductus arteriosus, T... |
ORPHA:2184 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Pulmonic ... |
OMIM:608149 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Wide anterior fontanel, Decreased body weight, Short stature, Pate... |
OMIM:614886 |
Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfu... |
ORPHA:330001 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Stroke, Slender long bones with narrow diaphyses, Craniosynostosis, ... |
ORPHA:536467 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy |
ORPHA:104 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Pulmonary hypoplasia, Contracture of the proximal inte... |
OMIM:601559 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Arterial Tortuosity Syndrome |
|
Telangiectases of the cheeks, Aortic valve stenosis, Congenital diaphragmatic hernia, Pulmonary a... |
OMIM:208050 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... |
OMIM:614022 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Short stature, Small hand, Coronal craniosynostosis, Ventricular septal def... |
OMIM:145420 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Secundum atrial septal defect, Cerebral hemorrhage, Hepatomegaly, Cerebral calcificati... |
OMIM:617397 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Disproportionate short-limb short stature, Metaphyseal cupping, H... |
ORPHA:85166 |
Blomstrand Lethal Chondrodysplasia |
|
Metaphyseal cupping, Neonatal short-limb short stature, Increased bone mineral density, Flared me... |
ORPHA:50945 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Tracheobronchomalacia, Patent duct... |
OMIM:617751 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Short lower limbs, Pulmonary hypoplasia, Lower limb undergrowth, Intrauterine grow... |
OMIM:236640 |
Desmosterolosis |
|
Anomalous pulmonary venous return, Severe short stature, Renal hypoplasia/aplasia, Increased bone... |
ORPHA:35107 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Pulmonary edema, Hepatomegaly, Abnormal bleeding, Left ventricular hype... |
ORPHA:57777 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... |
OMIM:616866 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Atrial septal defect, Sho... |
OMIM:614114 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Atrial septal defect, Micropenis, Short stature, Coarctation of aorta, Tapered f... |
OMIM:617159 |
Gitelman Syndrome |
|
Chondrocalcinosis, Polyuria, Hypocalciuria, Nocturia, Palpitations, Hypotension, Rhabdomyolysis, ... |
OMIM:263800 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Wide anterior fontanel, 2-3 toe syndactyly, Atrial septal defect, Micropenis,... |
OMIM:617063 |
2Q37 Microdeletion Syndrome |
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Clinodactyly of the 5th finger, Short metacarpal, Congenital diaphragmatic hernia, Short stature,... |
ORPHA:1001 |
Heterotaxy, Visceral, 6, Autosomal |
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Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Total Anomalous Pulmonary Venous Return 1 |
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Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent... |
OMIM:106700 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hypophosphatemic rickets, Hepatomegaly, Tachycardia, Glycosuria, Renal Fanconi syndrome, Proteinuria |
ORPHA:263455 |
Severe Congenital Nemaline Myopathy |
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Facial diplegia, Nemaline bodies, Flexion contracture, Micropenis, Adducted thumb, Hypospadias, A... |
ORPHA:171430 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Bicuspid aortic valve, Hypospadias, Short 5th finger, Ventricular septal defect, Tracheobronchoma... |
ORPHA:500159 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Large iliac wing, Severe short stature, Aortic valve stenosis, Increased bone mineral density, Ce... |
ORPHA:2780 |
Pentalogy Of Cantrell |
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Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morphology, Renal age... |
ORPHA:1335 |
Genitopatellar Syndrome |
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Hip contracture, Atrial septal defect, Short stature, Hypoplastic ilia, Multicystic kidney dyspla... |
ORPHA:85201 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
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Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Aplasia/Hyp... |
OMIM:609945 |
Cantu Syndrome |
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Bicuspid aortic valve, Broad first metatarsal, Congenital hypertrophy of left ventricle, Metaphys... |
OMIM:239850 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Rhizomelia, Thin bony cortex |
OMIM:619638 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Sy... |
OMIM:601163 |
Brachytelephalangic Chondrodysplasia Punctata |
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Short distal phalanx of finger, Laryngeal calcification, Calcaneal epiphyseal stippling, Postnata... |
ORPHA:79345 |
Maternal Uniparental Disomy Of Chromosome 2 |
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Chordee, Clinodactyly of the 5th finger, Hypospadias, Renal dysplasia, Contractures of the large ... |
ORPHA:96179 |
X Small Rings |
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Mitral stenosis, Bicuspid aortic valve, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Reduc... |
ORPHA:96201 |
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
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Generalized osteoporosis, Osteoporosis |
OMIM:601220 |
Heterotaxy, Visceral, 12, Autosomal |
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Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Atrial Standstill 1 |
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Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Abnormal cardiac septum morphology, Congenital hip dislocation, Hypoplastic pelvis, Pulmonary hyp... |
OMIM:308050 |
Autosomal Recessive Multiple Pterygium Syndrome |
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Hypoplasia of penis, Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal ... |
ORPHA:2990 |
Long Qt Syndrome 16 |
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Prolonged QTc interval, T-wave alternans, Patent ductus arteriosus after birth at term, Second de... |
OMIM:618782 |
Ventricular Tachycardia, Familial |
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Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Graft Versus Host Disease |
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Dupuytren contracture, Hepatosplenomegaly, Tachycardia, Limited shoulder movement, Myositis, Limi... |
ORPHA:39812 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Overlapping toe, Distally placed thumb, Short stature, Hypospadias, Cutaneous syndactyly, Small t... |
OMIM:619148 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Abnormal urinary color, Tachycardia, Splenomegaly, Congestive heart failure |
ORPHA:90037 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... |
OMIM:613834 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
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Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Osteogenesis Imperfecta |
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Abnormality of femur morphology, Femoral bowing, Osteopenia, Genu valgum, Aortic dissection, Pulm... |
ORPHA:666 |
Hyperzincemia With Functional Zinc Depletion |
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Osteoporosis, Vasculitis |
OMIM:601979 |
Osteogenesis Imperfecta, Type Xviii |
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Recurrent fractures, Thin bony cortex, Joint laxity, Joint hypermobility, Generalized osteoporosis |
OMIM:617952 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
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Pulmonary hypoplasia, Upper limb undergrowth |
OMIM:613124 |
Familial Cerebral Saccular Aneurysm |
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Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Long Qt Syndrome 13 |
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Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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