Calcification Of Joints And Arteries |
|
Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Tibi... |
OMIM:211800 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive hea... |
OMIM:208000 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... |
ORPHA:56 |
Arteriosclerosis, Severe Juvenile |
|
Short stature, Myocardial infarction, Chronic kidney disease, Central retinal vessel vascular tor... |
OMIM:208060 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Alkaptonuria |
|
Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic valve calcifi... |
OMIM:203500 |
Calciphylaxis |
|
Ectopic ossification, Arterial calcification, Secondary hyperparathyroidism |
ORPHA:280062 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Coronary artery calcification, Arterial tortuosity, Arterial occlusion, Abnormal vascular morphol... |
ORPHA:289601 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Mitral valve calcification, Hepatomegaly, Bronchitis, Right ventricular ... |
ORPHA:60025 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, T... |
OMIM:175050 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
|
Limb joint contracture, Short stature, Basal ganglia calcification, Calcification of the small br... |
OMIM:114100 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist... |
ORPHA:90308 |
Singleton-Merten Syndrome 2 |
|
Osteopenia, Short stature, Aortic valve calcification, Osteolytic defects of the phalanges of the... |
OMIM:616298 |
Generalized Arterial Calcification Of Infancy |
|
Cerebral calcification, Medial calcification of large arteries, Adrenal calcification, Cardiomega... |
ORPHA:51608 |
Distal Duplication 14Q |
|
Short stature, Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal lung lo... |
ORPHA:1705 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Mitral valve calcification, Hepatomegaly, Proteinuria, Abnormal... |
ORPHA:77261 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Gaucher Disease |
|
Osteopenia, Osteoarthritis, Cherry red spot of the macula, Abnormal bleeding, Hepatomegaly, Incre... |
ORPHA:355 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Reduced b... |
ORPHA:79474 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Joint stiffness, Metatarsus adductu... |
ORPHA:584 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the kidney, Congestive heart failure, Spinal arteriovenous malformation, Arteriove... |
ORPHA:53721 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Familial Multiple Nevi Flammei |
|
Cerebral calcification, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteri... |
ORPHA:624 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Muscle fiber atrophy, Expanded met... |
OMIM:182250 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:615269 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Suba... |
ORPHA:90307 |
Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141179 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arte... |
ORPHA:137667 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone ... |
ORPHA:1110 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplas... |
ORPHA:1166 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Short stature, Joint stiffness, Abnormality of the urinary syst... |
ORPHA:702 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morpholog... |
ORPHA:974 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Venous insufficiency, Congestive heart failure, Reduced bone mineral density... |
ORPHA:137608 |
Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141184 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... |
OMIM:109730 |
Arterial Dissection-Lentiginosis Syndrome |
|
Arterial dissection, Arteriovenous malformation |
ORPHA:1682 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Joint hyperflexibility, Hand polyd... |
ORPHA:60040 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcifi... |
ORPHA:2072 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
Phakomatosis Pigmentovascularis |
|
Cerebral calcification, Arteriovenous malformation, Reduced bone mineral density |
ORPHA:2875 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Telangiectasia of the skin, Pate... |
ORPHA:1556 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Short stature, Vascular calcification |
OMIM:231000 |
Capillary Malformation-Arteriovenous Malformation 1 |
|
Arteriovenous fistula, Arteriovenous malformation |
OMIM:608354 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport... |
ORPHA:1354 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Short stature, Abnormality of cartilage of external ear, ... |
ORPHA:3426 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Arteriovenous malformation |
ORPHA:1059 |
Melorheostosis |
|
Skeletal muscle atrophy, Increased bone mineral density, Peripheral arteriovenous fistula, Joint ... |
ORPHA:2485 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Medial calcification of large arteries, Short stature, Congestive heart failure, Func... |
ORPHA:391487 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Oligosacchariduri... |
ORPHA:365 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |
Cerebral Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:46724 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim... |
ORPHA:740 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension |
OMIM:602079 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... |
OMIM:265450 |
Unilateral Polymicrogyria |
|
Stroke, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Tracheoesophageal fistul... |
OMIM:314390 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615271 |
Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphol... |
ORPHA:464329 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block, Trip... |
ORPHA:392 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Pulmo... |
ORPHA:3033 |
Aicardi-Goutières Syndrome |
|
Myositis, Cerebral calcification, Short stature, Multiple joint contractures, Cardiomegaly, Rayna... |
ORPHA:51 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Clubbing, Heart m... |
ORPHA:2038 |
Premature Ovarian Failure 2B |
|
Osteoporosis, Delayed puberty |
OMIM:300604 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Femoral bowing,... |
OMIM:615415 |
Fanconi Anemia |
|
Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Atrial septal defec... |
ORPHA:84 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:613496 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Arachnodactyly, Recurrent fractures, Pulmonary embolis... |
ORPHA:394 |
Currarino Syndrome |
|
Vesicoureteral reflux, Hypoplasia of penis, Hypospadias, Arteriovenous malformation |
ORPHA:1552 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Type II diabetes mellitus, Gout, Premature coronary artery atherosclerosis |
OMIM:610947 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flexion contrac... |
OMIM:613870 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Tall stature, Angina pectoris, Short stature, Telangiectasia, Intracrani... |
ORPHA:109 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Meacham Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Congeni... |
OMIM:608978 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Supraventricula... |
ORPHA:90064 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Pulmonary cyst, Wide anterior fontanel, Overgrowth, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation... |
OMIM:606721 |
Variant Abeta2M Amyloidosis |
|
Multiple bony cystic lesions, Abnormal vascular morphology, Chronic kidney disease, Abnormal skel... |
ORPHA:314652 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Hennekam Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Mild postnatal growth retardation, Camptodac... |
ORPHA:2136 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ... |
ORPHA:185 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragm... |
ORPHA:1120 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Short stature, Increased circulating gonadot... |
ORPHA:2410 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Short stature |
ORPHA:2204 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis |
OMIM:234810 |
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas |
|
Arteriovenous fistula |
OMIM:600419 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Short stature, Delayed epiphyseal ossification, Limited elbo... |
ORPHA:79106 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Rhabdomyolys... |
ORPHA:449285 |
Mucopolysaccharidosis-Plus Syndrome |
|
Cerebral calcification, Metaphyseal widening, Flexion contracture, Atrial septal defect, Nephriti... |
OMIM:617303 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coro... |
OMIM:618845 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... |
OMIM:600884 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail... |
OMIM:228600 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... |
ORPHA:97339 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Basal ganglia calcification, Calcification of the small brain vessels, Urinary incontinence, Dens... |
OMIM:213600 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Odontochondrodysplasia 1 |
|
Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short metacarpal, Sh... |
OMIM:184260 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Short stature, Limitation of joint mobility |
ORPHA:166277 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen... |
OMIM:618280 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Mild postnatal growth retardation, Basal ganglia calcification, Flexion ... |
ORPHA:90324 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph... |
OMIM:176200 |
Osteogenesis Imperfecta, Type Xxii |
|
Short stature, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, De... |
OMIM:619795 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Acute infectious pneumonia, Tachycardia, Crazy paving pattern, Foam cells |
ORPHA:264675 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Organic aciduria, Supraventricula... |
OMIM:255100 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardio... |
OMIM:614921 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular s... |
OMIM:620210 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Hypertension, Increased urinary porphobilinogen, Elevate... |
OMIM:121300 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary a... |
OMIM:601186 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, Joint stiffness, Abnormal lu... |
ORPHA:2516 |
Superficial Siderosis |
|
Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Functional abnormality of... |
ORPHA:247245 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Flexion contracture, Hypertension, Pulmonary hypoplasia, Abnormal r... |
OMIM:616733 |
Angioosteohypotrophic Syndrome |
|
Venous malformation, Abnormal trabecular bone morphology, Prominent superficial veins, Thin bony ... |
ORPHA:75508 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty |
OMIM:615270 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Paten... |
ORPHA:2306 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Short stature, Renal hy... |
OMIM:612946 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Clubbing of fing... |
ORPHA:335 |
H Syndrome |
|
Hallux valgus, Short stature, Abnormality of the kidney, Recurrent fractures, Recurrent pharyngit... |
ORPHA:168569 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Congenit... |
ORPHA:2260 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Osteopenia, Renal agenesis, Short stature, Anomalous origin of left coronar... |
ORPHA:2326 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Functional abnormality of... |
ORPHA:79093 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Atrial septal defect, Limited elbow extension and supination, Ventricular septal de... |
ORPHA:401935 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Tubulointerstitial nephritis, Hypovolemia, Ischemic... |
ORPHA:90068 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Absence of pubertal development |
OMIM:615267 |
Metatropic Dysplasia |
|
Severe short stature, Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification,... |
ORPHA:2635 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Severe short stature, Osteoporosis |
OMIM:204730 |
Glomuvenous Malformation |
|
Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Arteriovenous malformatio... |
ORPHA:83454 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Autosomal Recessive Primary Microcephaly |
|
Growth delay, Abnormal cortical bone morphology, Short stature |
ORPHA:2512 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Ant... |
OMIM:608836 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Abnormal lung lobation, Abnormal epiphysis mor... |
ORPHA:2631 |
Proteus Syndrome |
|
Decreased muscle mass, Pulmonary embolism, Abnormal finger morphology, Abnormal lung lobation, Re... |
ORPHA:744 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Osteopenia, Centrally nucl... |
OMIM:613327 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum ... |
OMIM:618187 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Urinary incontinence, Basal ganglia calcificatio... |
ORPHA:191 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Andersen-Tawil Syndrome |
|
Prominent U wave, Abnormal T-wave, Prolonged QTc interval, Polymorphic and polytopic ventricular ... |
ORPHA:37553 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Slender build, Joint hypermobility |
OMIM:300831 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non... |
OMIM:618719 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... |
OMIM:617194 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand, Flat acetabular roof, F... |
OMIM:252500 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Short stature, Pulmonary artery sten... |
ORPHA:85202 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morph... |
ORPHA:2655 |
Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Sandal gap, Short stature, Short toe, Spina bifida occulta, Perimembranous ventricula... |
OMIM:617877 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... |
ORPHA:70587 |
Alg9-Cdg |
|
Abnormal lung lobation, Right ventricular dilatation, Narrow greater sciatic notch, Abnormal left... |
ORPHA:79328 |
Proteus Syndrome |
|
Thin bony cortex, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Venous ma... |
OMIM:176920 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Fetal pyelectasis, Knee flexion contr... |
OMIM:616531 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Hepatomegaly, Raynaud phenomenon, Respiratory tract infection, Clubbing... |
ORPHA:79128 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno... |
OMIM:617478 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... |
ORPHA:3097 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of ... |
ORPHA:1926 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus, Clinodactyly of ... |
ORPHA:228190 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Internal hemorrhage, Abnormal bleeding, Peripheral ar... |
ORPHA:286 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ecchymosis, Dislocate... |
ORPHA:287 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Birth length greater than 97th perce... |
ORPHA:314588 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstiti... |
OMIM:619902 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Hypoplastic ... |
ORPHA:93296 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Aort... |
OMIM:615779 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein... |
ORPHA:71273 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Postnatal growth retardation, Nephrolithiasis, Hip dysplasia, Clinod... |
OMIM:617219 |
Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification, Short st... |
ORPHA:2097 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... |
ORPHA:199241 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Cerebral calcification, Flexion contracture, Atrial septal defect, Patent foramen ovale, Tricuspi... |
ORPHA:505248 |
Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus, A... |
ORPHA:290 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ... |
ORPHA:2876 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... |
OMIM:265380 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... |
ORPHA:2141 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, V... |
OMIM:300855 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Generalized... |
ORPHA:1596 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing... |
OMIM:610682 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Ascending tubular aorta an... |
OMIM:619825 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Alg3-Cdg |
|
Osteopenia, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the desce... |
ORPHA:79321 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polydactyly, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged ... |
OMIM:613885 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Recurrent fractures, Paten... |
OMIM:618188 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal renal mo... |
ORPHA:1666 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphol... |
ORPHA:2257 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula |
OMIM:149000 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Atrial septal defect, Tachycardia, Tapered finger, 2-3 toe syndactyly, Abnormal he... |
ORPHA:485405 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Pleural effusion, Reduced left ventricular ejection fra... |
ORPHA:542323 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Situs inversus totalis, Splenomegaly, Pat... |
OMIM:208540 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti... |
ORPHA:49827 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ... |
ORPHA:494424 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, Disproporti... |
OMIM:616166 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Hepatomegaly, Decreased muscle mass, Proteinuria, Short stature, Osteoporosis,... |
OMIM:232200 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly,... |
OMIM:613091 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Hypospadias, Fractured radius, Ventricular septal defect, Decreased fibu... |
OMIM:616897 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Hypospadias, Abnormal pul... |
ORPHA:500 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Recurrent respiratory infections, Atrial septal defect, Hypospadias, Overlapping toe, P... |
OMIM:618316 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ... |
ORPHA:368 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Short stature, Recurrent fractures, Limitation of joint mobility |
ORPHA:1486 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Short stature, Proximal placement of thumb, Tapered finger, Co... |
ORPHA:251071 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndacty... |
ORPHA:276280 |
Mosaic Trisomy 16 |
|
Syndactyly, Hypospadias, Ventricular septal defect, Short thumb, Abnormal lung morphology, Patent... |
ORPHA:1708 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Orthostatic hypotension, Renal insufficiency, Tachycardia, Glom... |
ORPHA:1764 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Multiple prenatal fractures, Patent ductus arte... |
OMIM:616867 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Lef... |
ORPHA:75249 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Short stature,... |
OMIM:619657 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia |
ORPHA:3222 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Hallux valgus, Tachycardia, Hypospadias, Bicuspid aortic valve, Abnormalit... |
ORPHA:1772 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Cardiomyopathy, Pulmonary hypoplasia, Pul... |
OMIM:619003 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger jo... |
ORPHA:363705 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Wide anterior fontanel, Metaphyseal widening, Flexion contractur... |
OMIM:263210 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Short stature, Cardiomegaly, Wide distal femoral metaphysis, Vascular dila... |
OMIM:613320 |
Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Finger clinodactyly, Pulmonary artery atresia, Micro... |
ORPHA:1692 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Coarctation of aorta, Joint hyperfle... |
ORPHA:261243 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Short stature, Congenital diaphragmatic ... |
ORPHA:2311 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Hypospadias, Rocker bottom foot, Pulmonary artery atr... |
OMIM:301056 |
Hutchinson-Gilford Progeria Syndrome |
|
Precocious atherosclerosis, Osteolysis, Growth delay, Generalized osteoporosis, Premature coronar... |
OMIM:176670 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... |
ORPHA:244 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... |
ORPHA:26793 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Dextrotransposition of the great arteries, Atri... |
OMIM:270100 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal thumb morpho... |
ORPHA:500095 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica... |
OMIM:241530 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:2847 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary insufficiency, Pulmonary hypoplasia, Abnormal cartilage matrix |
OMIM:245650 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:600081 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Aspiration pneumonia, Abnormal heart morphology |
ORPHA:79264 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, ... |
ORPHA:36234 |
Cholera |
|
Tachycardia, Abnormality of renal excretion, Hypovolemic shock, Stroke, Hypotension, Aspiration p... |
ORPHA:173 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Intrauterine growth retardation, Tachycardia, Lower limb muscle weakness |
OMIM:619737 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Osteoporos... |
ORPHA:785 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Torticollis, Arachnodactyly, Protrusio acetabuli, Bicuspid aortic valve, Arterial t... |
OMIM:614816 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Cat Eye Syndrome |
|
Atrial septal defect, Ventricular septal defect, Renal agenesis, Short stature, Absent radius, Pa... |
OMIM:115470 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Obesity, Absence of pubertal deve... |
OMIM:610628 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Knee flexion contracture, Atrial septal defect, Wrist flexion ... |
OMIM:121050 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Increased var... |
OMIM:617022 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Clubbing, Intraalveolar phospholipid accumulation, Absent ... |
OMIM:265120 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Short stature, Sudden cardiac death, Renal hypoplasia/aplasia, Situ... |
ORPHA:991 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Short stature, Secundum at... |
OMIM:600987 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallo... |
OMIM:108900 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Flexi... |
OMIM:617468 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Recurrent fractures, Cranio... |
ORPHA:251004 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Short stature, Congenital diaphragmatic hernia, Abnormal heart morphology, Growth de... |
OMIM:300978 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Cerebral calcification, Abnormally ossified vertebrae, S... |
ORPHA:3035 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmo... |
OMIM:208530 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... |
OMIM:300963 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Pulmonary hypoplasia |
ORPHA:3032 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Pulmonary hypoplasia, Intraute... |
ORPHA:86822 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous syndactyly, Pulmon... |
OMIM:236500 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Short stature, Postaxial hand polydactyly, Hip dislocation, Postaxial foot polyda... |
OMIM:241800 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... |
OMIM:610205 |
Tularemia |
|
Pleural effusion, Tachycardia, Pneumonia |
ORPHA:3392 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Ren... |
ORPHA:139466 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Pulmonary edema, Cardiac conduction abnormality, Con... |
ORPHA:466677 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke... |
ORPHA:289157 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, 3-5 toe syndactyly, Atrial septal defect, Clinodactyly of the 5th finger, ... |
OMIM:300707 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... |
ORPHA:449395 |
Hereditary Coproporphyria |
|
Dark urine, Proximal muscle weakness in upper limbs, Tachycardia, Porphyrinuria, Increased urinar... |
ORPHA:79273 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Growth delay, Hyper... |
OMIM:223900 |
Degcags Syndrome |
|
Osteopenia, Bilateral renal hypoplasia, Atrial septal defect, Intrauterine growth retardation, Di... |
OMIM:619488 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Bifid humerus, Lacunar halos around chondrocytes, Flat acetabular roof, Short greater... |
OMIM:256050 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Rhabdomyolysis, Ven... |
OMIM:212138 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
Greenberg Dysplasia |
|
Laryngeal calcification, Multiple prenatal fractures, Patchy variation in bone mineral density, A... |
OMIM:215140 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Abnormal left ven... |
ORPHA:36913 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Postaxial... |
OMIM:614091 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Narrow greater sciatic notch... |
OMIM:312870 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Renal agenesis, Congenital dia... |
OMIM:611812 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:264700 |
Renal Hypodysplasia/Aplasia 4 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Renal agenesis, Absent thumb, Patent ductus arteriosus, Abnormal lung ... |
OMIM:300514 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f... |
OMIM:300049 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:277440 |
Chops Syndrome |
|
Ventricular septal defect, Short stature, Tracheomalacia, Splenomegaly, Patent ductus arteriosus,... |
OMIM:616368 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Micropenis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Renal Hypodysplasia/Aplasia 2 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:615721 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Arachnodactyly, Hypospadias, Dextrocardia, Postnatal growth retardation, W... |
OMIM:248700 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Small h... |
OMIM:300845 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Dextrocardia, 2-3 finger syndactyly, Trach... |
ORPHA:2437 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Craniosynostosis, Postaxial hand polydactyly, Pulmonary hypoplasia, Extrapulmonary ... |
OMIM:200995 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Renal neoplasm, Arachnodactyly, Re... |
ORPHA:536467 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Facial palsy... |
ORPHA:31826 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars... |
OMIM:300554 |
Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Short stature, Coarctation of aorta, Prolonged prothrombi... |
OMIM:616559 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Osteolysis involving bones of the u... |
ORPHA:371428 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Renovascular hyp... |
OMIM:602531 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Laryngotrache... |
ORPHA:1190 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Tracheoesophageal fistula, Coarctation of aorta, Abnormal... |
ORPHA:1923 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hyperphosphaturia, Short stature, Recurrent fractures, Abnormal toe morphology, Abnor... |
OMIM:163200 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Renal cyst, Hypoplastic iliac wing, Short phalan... |
OMIM:208500 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Carotid paraganglioma, Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Interstitial pneumonitis, Hypotension, Acute kidney injury |
ORPHA:330021 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Ectopic kidney,... |
ORPHA:3027 |
Alport Syndrome |
|
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... |
ORPHA:63 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Short stature, Sagittal craniosynostosis, Small hand, Aortic root aneu... |
OMIM:145420 |
Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Epistaxis, Hematuria, Prolonged prothrombin time, Abnormality of ... |
ORPHA:91547 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Osteoporosis, Nephrolithiasis, Gout, Hype... |
OMIM:232220 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Tachycardia, Syncope, Premature ventricul... |
OMIM:192445 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Ventricular septal defect, Absent pulmonary artery, Split hand, Clubbing, Patent duc... |
OMIM:600460 |
Diamond-Blackfan Anemia 20 |
|
Acetabular dysplasia, Total anomalous pulmonary venous return |
OMIM:618313 |
Congenital Tracheomalacia |
|
Cardiomegaly, Atrial septal defect, Emphysema, Single ventricle, Patent ductus arteriosus, Partia... |
ORPHA:95430 |
Weismann-Netter Syndrome |
|
Abnormality of the thyroid gland, Severe short stature, Abnormal cortical bone morphology |
ORPHA:3344 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Limited elbow movement, Emphysema, Arachnodactyly, Osteoporo... |
ORPHA:558 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid... |
ORPHA:261494 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Abnormality of the urinary system, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmo... |
ORPHA:2184 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Diaphragmatic eventration, Spinal muscular atrophy, Secundum atrial septal defect, Congestive hea... |
OMIM:616866 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... |
OMIM:212093 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Tetanus |
|
Tachycardia, Stiff neck, Elevated urinary norepinephrine level, Elevated urinary epinephrine leve... |
ORPHA:3299 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Wide anterior fontanel, Patent ductus arteriosus, Growth delay, Decreased body wei... |
OMIM:614886 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
High Altitude Pulmonary Edema |
|
Tachycardia, Pulmonary edema |
ORPHA:330012 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Coxa valga, Long fingers, Patent ductus... |
OMIM:608149 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Prolonged bleeding following procedure, Nephrocalcinosis, Tubulointerstitial fibrosis... |
ORPHA:79259 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Tortuous cerebral arteries, Osteopenia, Joint laxity, Unilateral renal agen... |
OMIM:616603 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Multiple bladder diverticula, Abnormal systemic arterial morphology, Vesicoureteral reflux, Emphy... |
ORPHA:90349 |
Stuve-Wiedemann Syndrome 1 |
|
Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of finger, Sh... |
OMIM:601559 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the kidney, Raynau... |
ORPHA:167635 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral calcification, Cerebral hemorrhage, Secundum atrial septal defect, Patent ... |
OMIM:617397 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left at... |
ORPHA:57777 |
Desmosterolosis |
|
Increased bone mineral density, Severe short stature, Renal agenesis, Renal hypoplasia/aplasia, M... |
ORPHA:35107 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Abnormal carpal morphology, Hypoplasia of the cap... |
ORPHA:85166 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent... |
OMIM:106700 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Posterolateral diaphragmatic hernia, Sandal gap, Morgagni diaphragmatic... |
OMIM:613177 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Myositis, Pneumonia, Limited elbow m... |
ORPHA:39812 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Hypospadias, Facial palsy, Multiple prenatal fractures, Flexion contract... |
ORPHA:171430 |
Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Short 4th toe, Atrial septal defect, Clinodactyly of the 5th finger, Prominent... |
OMIM:615873 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Thin bony cortex |
OMIM:619638 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Skeletal muscle atrophy, Short stature, Camptodactyly of ... |
ORPHA:2990 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Rhabdomyolysis, Ventricular tachycardia... |
OMIM:263800 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Short stature, Hypoplastic ilia, Patellar aplasia,... |
ORPHA:85201 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Proteinuria, Renal Fanconi syndrome, Glycosuria, Hypophosphatemic rickets |
ORPHA:263455 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Short stature,... |
ORPHA:1001 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Pulmonary hypoplasia |
OMIM:618174 |
Pentalogy Of Cantrell |
|
Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Renal agenesis, Congenit... |
ORPHA:1335 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Absent middle phalanx of 3rd finger, Flexion c... |
OMIM:308050 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Short stature, Proximal placement of thumb, Postnatal growth retardati... |
OMIM:620113 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Melena, Nephrocalci... |
OMIM:276700 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Upper limb undergrowth |
OMIM:613124 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Clinodactyly o... |
OMIM:601163 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Joint laxity, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform asc... |
OMIM:617168 |
Hyperzincemia With Functional Zinc Depletion |
|
Vasculitis, Osteoporosis |
OMIM:601979 |
Peters Plus Syndrome |
|
Ureteral duplication, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Clinodactyly ... |
ORPHA:709 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Postnatal growth retardation, Preaxial hand polydactyly, Respir... |
ORPHA:96179 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Decreased muscle mass, Postnatal growth retardation, Metaphyseal widening, Triangul... |
ORPHA:73230 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Patent ductus arteriosus, Squared iliac bones, Preaxial polyda... |
OMIM:616300 |
Cantu Syndrome |
|
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... |
OMIM:239850 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... |
OMIM:194080 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Overlapping toe, Short stature, Tapered finger, Short thumb, Penoscrotal transpositi... |
OMIM:619148 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, F... |
ORPHA:96201 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Cerebral calcification, Short stature, Retinal telangiectas... |
OMIM:612199 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal femur morpho... |
ORPHA:666 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joint laxity, Abnormal... |
ORPHA:536471 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal aortic arch ... |
ORPHA:2059 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Short stature, Sit... |
ORPHA:1908 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular... |
ORPHA:280365 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypop... |
OMIM:151210 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Hepatomeg... |
OMIM:232300 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery, Abnormality of the kidney |
ORPHA:895 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia, Abnormal urinary color |
ORPHA:90037 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Joint laxity, Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally ... |
OMIM:255320 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se... |
OMIM:613795 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Abn... |
ORPHA:477817 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Atelectasis, S... |
OMIM:269860 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Calcification of the auricular cartilage, Cerebral calcific... |
OMIM:245150 |
Arterial Tortuosity Syndrome |
|
Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Pulmonary arter... |
ORPHA:3342 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Myoglobinuria, Rhabdomyolysis... |
ORPHA:94093 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Heart block, Atrial septal defect, Vesicoureteral reflux,... |
OMIM:617063 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmo... |
OMIM:620025 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Equinus calcaneus, Flexion contracture, Emphysema, ... |
OMIM:154700 |
Dent Disease 1 |
|
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars... |
OMIM:300009 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Renal insufficiency, Toe syndactyly, Renal agenesis, Mitral atresia, Short ... |
ORPHA:140952 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Short stature, Rhabdomyosarcoma, Abnormal lun... |
ORPHA:1052 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Hyperthyroidism, Osteomalacia, Precocious puberty in fem... |
ORPHA:249 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Spontaneous... |
ORPHA:731 |
Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Tachycardia, Neurogenic bladder, Chronic kidney disease,... |
ORPHA:79473 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder disloc... |
OMIM:245600 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor... |
OMIM:614653 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Hypospadias, Sandal gap, Postaxial polydactyly, Preaxial polydac... |
OMIM:612651 |
Down Syndrome |
|
Hypoplastic iliac wing, Atrial septal defect, Short palm, Atrioventricular canal defect, Patent f... |
OMIM:190685 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Splenomegaly, Oliguria, Bradycardia, Hypotension, R... |
ORPHA:90051 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali... |
OMIM:602668 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, G... |
ORPHA:906 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Overlapping toe, Short hallux, Postnatal growth retardation, Co... |
ORPHA:3309 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Cardiac arrest, Acute rhabdomyolysis, Myoglobinuria, Rhabdomyolysis, Ventricular tachy... |
OMIM:616878 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... |
OMIM:274000 |
Hardikar Syndrome |
|
Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Hepatomegal... |
OMIM:301068 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short stature, Osteolytic defects of the phalanges of the hand, Joint ... |
ORPHA:2484 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Patent ductus arteriosus, Megacystis, Pyelonephritis, Bidirecti... |
OMIM:619351 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmati... |
OMIM:615524 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Generalized joint laxity, Hypermobility of interphalangeal joints, Short p... |
ORPHA:508498 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:616777 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Bowing of the legs, Hypoplastic ilia, Flexion contracture... |
ORPHA:1865 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Hypoplastic right heart, Pulmonary artery atresia, Ventricul... |
OMIM:616894 |
Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Horseshoe kidney, Hypoplasia of pro... |
ORPHA:2886 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Amyoplasia, Hypopla... |
OMIM:312150 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Tachycardia, Hypotension |
ORPHA:79155 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Osteopenia, Joint laxity, Unilateral renal agenesis, Postnatal growth retar... |
ORPHA:90348 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal lung lobation, Renal cyst, At... |
OMIM:270400 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Short stature, Pulmonic st... |
ORPHA:1131 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Finger joint h... |
OMIM:130050 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Pu... |
ORPHA:2470 |
Meester-Loeys Syndrome |
|
Aortic dissection, Arachnodactyly, Short stature, Mitral valve prolapse, Ascending tubular aorta ... |
OMIM:300989 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Rhabdomyolysis, Ventricular tachycardia, Oliguria, Cardiomyo... |
ORPHA:159 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Short femur, Rhizomelia, Limited hip extension, Bowing of the legs,... |
OMIM:100800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Abnormal lung m... |
ORPHA:141127 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia |
ORPHA:90036 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... |
ORPHA:959 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Hypospadias, Tarsal synostosis, Short h... |
ORPHA:90652 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Palpitations |
OMIM:188580 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Congestive heart failure, Tachycardia, Abnormal urinary color |
ORPHA:90033 |
Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Acute kidney injury |
ORPHA:43116 |
Acute Intermittent Porphyria |
|
Dark urine, Proximal muscle weakness in upper limbs, Tachycardia, Renal insufficiency, Urinary in... |
ORPHA:79276 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Amyoplasia, Hypopla... |
OMIM:253290 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Arachnodactyly, Bicuspid aortic ... |
ORPHA:536545 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Short stature, Peripheral arterial sten... |
ORPHA:217085 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Craniosynosto... |
ORPHA:453499 |
Congenital Myopathy 17 |
|
Diaphragmatic eventration, Overlapping toe, Tapered finger, Respiratory tract infection, Clinodac... |
OMIM:618975 |
Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Limitation of joint mobility, O... |
ORPHA:2796 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Congenital diap... |
OMIM:614080 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arachnodactyly, Art... |
ORPHA:284984 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arachnodactyly, Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root aneu... |
OMIM:614437 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... |
OMIM:176000 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Preaxial polydactyly... |
OMIM:615503 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Short long bone, Overgrowth, Disproportionate sho... |
OMIM:224410 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Short stature, Peripheral arterial sten... |
ORPHA:217093 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98855 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Patent ductus arteriosus, Aplasia/Hy... |
ORPHA:1112 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Short stature, Interrupted aortic arch, Unilateral primary pulmonary d... |
OMIM:192430 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Short stature, Recurrent fractures, Camptodactyly of f... |
ORPHA:3206 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Hypospadias, Rocker bottom foot, Ventricular septal defect, Metatarsus adductus, Wi... |
OMIM:214100 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Epiphyseal dysplasia, Hypospadias, Bicuspid aortic valve, Short stature, Me... |
OMIM:611962 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Clinodactyly of the... |
ORPHA:2001 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Atrial septal defect, Bicuspid aortic valve, Arachnodactyly, Craniosynostosis, Arte... |
OMIM:609192 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Cerebral calcification, Abnormal cartilage morphology, Bone cyst, Oste... |
ORPHA:2396 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Sanda... |
OMIM:619127 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Wide anterior fontanel, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Short stature, Tapered finger, Dilated cardiomyopath... |
ORPHA:401923 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bicuspid aortic valve, Short stature, Unilateral renal agenesis, Absent t... |
OMIM:614900 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Abnormal aortic arch morphology, Tibial bowing, Hypoplastic iliac wing, Atri... |
ORPHA:96334 |
Stiff-Person Syndrome |
|
Tachycardia, Hypertension, Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Axia... |
OMIM:184850 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Raine Syndrome |
|
Bowing of the long bones, Hydroureter, Cerebral calcification, Short stature, Increased bone mine... |
OMIM:259775 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonar... |
OMIM:620306 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Hypospadias, Ventricular septal defect, Short stature, Co... |
OMIM:309801 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Short stature, Interphalangeal joint contracture of finger, Ankle fl... |
OMIM:259600 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol |
OMIM:229700 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Overlapping toe, Proximal placement of thumb, Unilateral renal agenesis, Tapered fin... |
ORPHA:487796 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Wide anterior fontanel, Complete atrioventricular canal defect, Preaxial p... |
OMIM:617925 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Joint laxity, Hypospadias, Br... |
ORPHA:353281 |
Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Renal agenesis, Bronchitis, Laryngot... |
ORPHA:1199 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Prolonged prothrombin time, Hypotension, Pleura... |
ORPHA:244242 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Gm1-Gangliosidosis, Type Ii |
|
Patent ductus arteriosus, Failure to thrive, Thin bony cortex, Joint stiffness |
OMIM:230600 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Abnormal tricuspid valve morphology, Atrial septal defect, Clinodactyly of t... |
ORPHA:1507 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Broad metacarpals, Short metacarpal, Hitchhiker thumb, Rhizomelia, Incre... |
ORPHA:56304 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98863 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea... |
ORPHA:805 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal corti... |
OMIM:130650 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Bicuspid aortic valve, Mild postnatal growth retardation, Myocardial infarction, Cere... |
OMIM:150230 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Short statu... |
ORPHA:84064 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Hepatomegaly, Short stature, Abnormal mitral valve morpholog... |
ORPHA:580 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Congenital diaphrag... |
OMIM:200980 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol |
ORPHA:348 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c... |
OMIM:265000 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lung ... |
ORPHA:818 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Bowing of the legs, Abnormal hand b... |
OMIM:200600 |
Thoracoabdominal Syndrome |
|
Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposi... |
OMIM:313850 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Osteoporosis, Increased susceptibility to fractures, Syn... |
ORPHA:98849 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Renal insufficiency, Excessive bleeding afte... |
ORPHA:99826 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Pat... |
OMIM:617088 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Patent ductus arteriosus, Postaxial foot polydactyly, Abnormal cardiac septum morphol... |
OMIM:249000 |
Sarcoidosis |
|
Heart block, Abnormal lung morphology, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstit... |
ORPHA:797 |
Renal Agenesis |
|
Renal insufficiency, Proteinuria, Ventricular septal defect, Unilateral renal agenesis, Renal age... |
ORPHA:411709 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the... |
OMIM:617895 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Short stature, Patent ductus art... |
OMIM:614609 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter... |
ORPHA:116 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Hypertension, Bilateral renal agenesis, Pulmonary hypoplasia, Renal dysplasia |
OMIM:191830 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Pulmonary hypoplasia, Generalized amyotroph... |
ORPHA:994 |
Marshall-Smith Syndrome |
|
Large sternal ossification centers, Distal widening of metacarpals, Coxa vara, Aspiration pneumon... |
OMIM:602535 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Pulmonary hypoplasia, Hypotension, Renotubular dysgenesis |
OMIM:267430 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Renal insufficiency, Short stature, Unilateral renal agenesis, Congestive hear... |
OMIM:181270 |
Legius Syndrome |
|
Short stature, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Nephrolithiasis, Mit... |
ORPHA:137605 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, ... |
OMIM:194050 |
Desmosterolosis |
|
Rhizomelia, Generalized osteosclerosis, Patent ductus arteriosus, Total anomalous pulmonary venou... |
OMIM:602398 |
Rhabdoid Tumor |
|
Hematuria, Hypertension, Internal hemorrhage, Renal neoplasm |
ORPHA:69077 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Proteinuria |
ORPHA:35858 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Neurogenic bladder, Congenital hip dislocation, Short metacarpal, Bicuspid aorti... |
OMIM:617137 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abno... |
ORPHA:904 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Reduced bone mineral de... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Reduced bone mineral de... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Reduced bone mineral de... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Reduced bone mineral de... |
ORPHA:881 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Joint l... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Joint l... |
ORPHA:353277 |
Vater/Vacterl Association |
|
Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thumb, Vesicoureteral reflux,... |
OMIM:192350 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Atrial septal defect, Microp... |
OMIM:612289 |
Tetrasomy 9P |
|
Myositis, Clinodactyly of the 5th finger, Intrauterine growth retardation, Micropenis, Patent for... |
ORPHA:3310 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl... |
OMIM:271640 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:601809 |
Hyperlysinemia |
|
Short stature, Craniosynostosis, Argininuria, Recurrent pneumonia, Cystinuria, Pulmonary artery h... |
ORPHA:2203 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Postnatal growth retardation, Long penis... |
ORPHA:508 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand pol... |
OMIM:263520 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
OMIM:600001 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, Short stature, Congenital diaphragmatic hernia, 3-4 finger... |
OMIM:612530 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Short stature, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Clubbing of fingers, C... |
OMIM:605676 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Short stature, Rhizomelia, Generalized joint laxity, Decreased calvaria... |
OMIM:613848 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Rocker bottom foot, Limb joint contracture, Wide anterior font... |
OMIM:275210 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Hepatomegaly, Scapular winging, Tapered toe, Shoulder flexion contracture, Limb ... |
OMIM:620369 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Short stature, Small for gestational age, Increa... |
ORPHA:2909 |
Gitelman Syndrome |
|
Cerebral calcification, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nep... |
ORPHA:358 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Hypospadias, Ventricular septal defect, Short stature, Postnatal growth retard... |
OMIM:163950 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Humeroradial synostosis, Forearm undergrowth, Pulm... |
OMIM:251230 |
Loeys-Dietz Syndrome |
|
Abnormal bleeding, Tall stature, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Arteria... |
ORPHA:60030 |
1Q41Q42 Microdeletion Syndrome |
|
Growth delay, Short stature, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:250999 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short stature, Small for gestational age, Finger... |
ORPHA:221008 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi... |
OMIM:115310 |
Meckel Syndrome, Type 6 |
|
Postaxial hand polydactyly, Bilobed right lung, Renal cyst, Horseshoe kidney, Postaxial foot poly... |
OMIM:612284 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Cerebral calcification, Osteomalacia, Flexion contracture, O... |
ORPHA:2671 |
Dent Disease |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Osteoporos... |
ORPHA:254892 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Postnatal growth retardation, Humeror... |
ORPHA:3404 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal ... |
OMIM:619534 |
Weill-Marchesani Syndrome 1 |
|
Short stature, Proportionate short stature, Joint stiffness, Patent ductus arteriosus, Thin bony ... |
OMIM:277600 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, A... |
OMIM:304120 |
Charge Syndrome |
|
Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary artery atresia, ... |
OMIM:214800 |
Lethal Congenital Contracture Syndrome 1 |
|
Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Pulmonary hypoplasia, Skeletal... |
OMIM:253310 |
Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Hypospadias, Camptodactyly of fing... |
ORPHA:1662 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short stature, Small for gestational age, Finger... |
ORPHA:221016 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Severe short stature, Cranial hyperostosis, Limitation of joint m... |
ORPHA:2658 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Thin b... |
OMIM:309583 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Multicystic kidne... |
ORPHA:79404 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Ventricular septal defect, Fetal pyelectasis, Bilateral rena... |
ORPHA:49 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Ventricular septal defect, Tapered finger, Congenital diaphragm... |
OMIM:301044 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Ankylosis, Flexion contr... |
OMIM:616503 |
Plague |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Acute infe... |
ORPHA:707 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hype... |
OMIM:100300 |
Rh Deficiency Syndrome |
|
Intrauterine growth retardation, Tachycardia, Hepatosplenomegaly |
ORPHA:71275 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2140 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia |
ORPHA:139411 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Atrial septal defect, Joint laxity, Bicuspid aortic valve, Ventricular septal defect,... |
ORPHA:438213 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Intrauterine ... |
OMIM:608013 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Congenital diaphragmatic hernia, Preaxial polydactyly, ... |
OMIM:616546 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Cerebral calcification, Short stature, Small for gestational age, Ricke... |
OMIM:613658 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures |
ORPHA:2769 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Weill-Marchesani Syndrome 2 |
|
Short stature, Proportionate short stature, Joint stiffness, Patent ductus arteriosus, Elbow flex... |
OMIM:608328 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Arachnodactyly, Flexion contracture, Osteoporosis, Stroke-li... |
ORPHA:86309 |
Oculodentodigital Dysplasia |
|
Cerebral calcification, Camptodactyly of finger, Cranial hyperostosis, Hyperostosis, Abnormal cor... |
ORPHA:2710 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Tracheomalacia, Situs inversus totalis |
OMIM:202650 |
Mirizzi Syndrome |
|
Dark urine, Tachycardia |
ORPHA:521219 |
Fryns Syndrome |
|
Ureteral duplication, Atrial septal defect, Hypospadias, Rocker bottom foot, Proximal placement o... |
OMIM:229850 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Vacterl With Hydrocephalus |
|
Renal agenesis, Renal hypoplasia/aplasia, Hypoplasia of the radius, Hip dislocation, Tracheoesoph... |
ORPHA:3412 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Wide anterior fontanel, Osteoporosis, Growth delay, Camptodactyly, Double outlet righ... |
OMIM:249420 |
Spondyloocular Syndrome |
|
Osteopenia, Short stature, Thin bony cortex, Decreased body weight |
OMIM:605822 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Recurrent respiratory infections, Severe short stature, Renal agenesis, Campto... |
ORPHA:2753 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Renal agenesis,... |
OMIM:256520 |
Faciocardiomelic Syndrome |
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Osteopenia, Thin bony cortex, Large for gestational age |
OMIM:612731 |
Schinzel-Giedion Syndrome |
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Renal cyst, Tibial bowing, Micropenis, Hypospadias, Wide anterior fontanel, Sclerosis of skull ba... |
ORPHA:798 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Urinary incontinence, Calcaneovalgus deformity, Flexion contracture, Vesic... |
ORPHA:261537 |
Mckusick-Kaufman Syndrome |
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Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand p... |
OMIM:236700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ketonuria, Hypospadias, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation ... |
OMIM:220111 |
Sick Sinus Syndrome 1 |
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Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Hepatomegaly, Overlapping toe, Arachnodactyly, Postnatal growth retardation, Contracture of the d... |
ORPHA:83617 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelvis bone ossi... |
ORPHA:93271 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
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Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Dilatation of the renal pelvis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture,... |
OMIM:619708 |
Malignant Hyperthermia, Susceptibility To, 5 |
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Tachycardia |
OMIM:601887 |
Brugada Syndrome 3 |
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Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Urinary incontinence, Calcaneovalgus deformity, Flexion contracture, Vesic... |
ORPHA:261552 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Long toe, Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Long fingers, Pate... |
OMIM:613355 |
Hemangioma-Thrombocytopenia Syndrome |
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Ventricular arrhythmia |
OMIM:141000 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Block vertebrae, Ectopic... |
OMIM:164210 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
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Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Tetraamelia Syndrome 1 |
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Renal agenesis, Congenital diaphragmatic hernia, Peripheral pulmonary vessel aplasia, Urethral at... |
OMIM:273395 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Decreased muscle mass, Camptodactyly of finger, Rocker bottom foot, Elbow contra... |
OMIM:208150 |
Hyperthyroidism, Nonautoimmune |
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Tachycardia |
OMIM:609152 |
Ebstein Anomaly |
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Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Phace Syndrome |
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Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Block vertebrae, Urethral atresia, Pulmonary hypoplasia, Hydronephrosis |
OMIM:271520 |
Genitopatellar Syndrome |
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Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal def... |
OMIM:606170 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... |
ORPHA:273 |
Craniotubular Dysplasia, Ikegawa Type |
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Sclerosis of skull base, Short stature, Thin bony cortex |
OMIM:619727 |
Yellow Fever |
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Abnormal bleeding, Shock, Renal insufficiency, Anuria, Supraventricular arrhythmia, Excessive ble... |
ORPHA:99829 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
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Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy |
OMIM:610131 |
Fraser Syndrome |
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Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Toe syndactyly... |
ORPHA:2052 |
Tsh-Secreting Pituitary Adenoma |
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Osteopenia, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Osteopor... |
ORPHA:91347 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Cam... |
OMIM:601803 |
Atrial Tachyarrhythmia With Short Pr Interval |
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Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Renal Agenesis, Bilateral |
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Tracheoesophageal fistula, Renal agenesis, Pulmonary hypoplasia |
ORPHA:1848 |
Fraser Syndrome 1 |
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Aplasia/Hypoplasia of the thumb, Hypospadias, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the... |
OMIM:219000 |
Joubert Syndrome 21 |
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Splenomegaly, Hyperechogenic kidneys, Pulmonary hypoplasia, Renal cyst |
OMIM:615636 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Hydroureter, Hypospadias, Down-sloping shoulders, Bicuspid aortic valve, Renal hypopl... |
OMIM:309800 |
Inhalational Anthrax |
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Internal hemorrhage, Hypotension |
ORPHA:247257 |
Aspartylglucosaminuria |
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Arthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:93 |
Arteriovenous Malformations Of The Brain |
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Cerebral arteriovenous malformation |
OMIM:108010 |
Holoprosencephaly 14 |
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Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Hypoplastic Left Heart Syndrome 2 |
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Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |