| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
| Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism, Peripheral arterial stenosis |
OMIM:134400 |
| Familial Aortic Dissection |
|
Aortic dissection, Paroxysmal dyspnea, Descending thoracic aorta aneurysm, Mucoid extracellular m... |
ORPHA:229 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:604091 |
| Distal Trisomy 14Q |
|
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation |
ORPHA:1705 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
| Moyamoya Disease 5 |
|
Moyamoya phenomenon, Ascending tubular aorta aneurysm |
OMIM:614042 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
| Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Vascular dilatation, Congestive heart failure, Im... |
OMIM:600884 |
| Aorto-Ventricular Tunnel |
|
Abnormal aortic morphology, Aortic root aneurysm, Ventricular hypertrophy, Abnormal coronary arte... |
ORPHA:3400 |
| Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... |
OMIM:615436 |
| Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex co... |
OMIM:611369 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic ... |
OMIM:185500 |
| Congenital unilateral pulmonary hypoplasia |
|
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Anomalous pulmonary venous ... |
ORPHA:2258 |
| Loeys-Dietz Syndrome 4 |
|
Aortic dissection, Ascending tubular aorta aneurysm, Bicuspid aortic valve, Mitral valve prolapse... |
OMIM:614816 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Aneurysm Of Interventricular Septum |
|
Vascular dilatation |
OMIM:105805 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... |
OMIM:132900 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Generalized arterial calcification, Coronary artery calcification, Myocardial infar... |
OMIM:208000 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Portal hypertension, Cerebral berry aneurysm, Emphysema |
OMIM:210050 |
| Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death, Coarctation of aorta, Patent ductus arteriosus, Bilate... |
OMIM:601612 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Mitral valve prolapse, Aortic root aneurysm, Generalized amyotr... |
ORPHA:171881 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Atherosclerosis, Dilatation of the cerebral artery, Cutis laxa, Redundant skin |
ORPHA:91135 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Tendon rupture, Mitral valve prolapse, Absent phalangeal crease, Ptosis, Aortic ro... |
ORPHA:230851 |
| Grange Syndrome |
|
Hypertension, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Sparse hair, Mitral valve calcification, Aortic root aneurysm, Ventricular hypertrophy, Absent ey... |
ORPHA:363618 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... |
ORPHA:70589 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic dissection, Paroxysmal dyspnea, Descending thoracic aorta aneurysm, Abdominal aortic aneur... |
ORPHA:91387 |
| Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Renovascular hypertension, Arterial fibromuscular dysplasia, Intermittent clau... |
OMIM:135580 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Anomalous branches of internal carotid artery, Patent ductus arteriosus, C... |
ORPHA:363705 |
| Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia, Vascular dilatation |
OMIM:187260 |
| Pancytopenia And Occlusive Vascular Disease |
|
Peripheral arterial stenosis |
OMIM:167850 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Myocarditis, Aortic root aneurysm, Short palpebral fissure, Vascular dila... |
ORPHA:3342 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal pattern of ... |
ORPHA:3287 |
| Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
| Familial Cerebral Saccular Aneurysm |
|
Aortic dissection, Abnormal circle of Willis morphology, Cerebral berry aneurysm, Aortic root ane... |
ORPHA:231160 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis |
OMIM:618496 |
| Marfanoid Habitus With Situs Inversus |
|
Mitral valve prolapse, Obstructive sleep apnea, Persistent left superior vena cava, Aortic root a... |
OMIM:609008 |
| Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis, Tendon xanthomatosis |
OMIM:618666 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... |
OMIM:611788 |
| Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... |
ORPHA:60033 |
| Vein Of Galen Aneurysmal Malformation |
|
Peripheral arteriovenous fistula, Vascular dilatation |
ORPHA:1053 |
| Boudin-Mortier Syndrome |
|
Pseudoepiphyses of the middle phalanges of the hand, Mitral valve prolapse, Aortic root aneurysm,... |
OMIM:619543 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Mitral valve prolapse, Hyperextensibility of the finger joints, Aortic root aneurysm, Epicanthus,... |
OMIM:130000 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cerebral artery atherosclerosis, Hypertension, Coronary artery atherosclerosis, Arterial stenosis |
ORPHA:1192 |
| Contractural Arachnodactyly, Congenital |
|
Distal arthrogryposis, Metatarsus adductus, Bicuspid aortic valve, Ventricular septal defect, Hip... |
OMIM:121050 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Supravalvular aortic stenosis, Congenital diaphragmatic hernia,... |
OMIM:219100 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Vascular dilatation, Respiratory insufficiency |
ORPHA:2924 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Cerebral berry aneurysm, Arterial fibromuscular dysplasia, Fu... |
OMIM:618734 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus |
ORPHA:99811 |
| Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta, Aortic valve stenosis |
OMIM:241550 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Neonatal Marfan Syndrome |
|
Hypoxemia, Ascending tubular aorta aneurysm, Neonatal respiratory distress, Cutis laxa, Adducted ... |
ORPHA:284979 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteriosus, Dermal tran... |
OMIM:617506 |
| Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Vasculitis, Pulmonary embolism... |
ORPHA:228116 |
| Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Patent ductus arteriosus, Decre... |
ORPHA:95430 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Hypoxemia, Honeycomb lung, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... |
ORPHA:79127 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Talipes equinovarus, Aortic root aneurysm, Arachnodactyly, Atrial sept... |
OMIM:301039 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Keratoconjunctivitis sicca, Hallux valgus, Carotid artery stenosis, Mitral valve prolapse, Perica... |
ORPHA:536532 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Bicuspid aortic valve, Talipes equinovarus, Aortic root aneurysm, Spatulate thumbs... |
OMIM:245600 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Talipes equinovarus, Aortic root aneur... |
OMIM:610168 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Patent ductus arteriosus, Varicose veins, Distichiasis, Peripheral arterial st... |
OMIM:126320 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Vascular dilatation |
OMIM:225755 |
| Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
| Tatton-Brown-Rahman Syndrome |
|
Widely spaced toes, Narrow palpebral fissure, Aortic root aneurysm, Patent ductus arteriosus, Atr... |
ORPHA:404443 |
| Rin2 Syndrome |
|
Hirsutism, Downslanted palpebral fissures, Aortic aneurysm, Hyperextensible skin, Upper eyelid ed... |
ORPHA:217335 |
| X Small Rings |
|
Toe syndactyly, Upper limb undergrowth, 2-3 toe syndactyly, Bicuspid aortic valve, Ventricular se... |
ORPHA:96201 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot |
OMIM:615779 |
| Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
| Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
| Mass Syndrome |
|
Mitral valve prolapse, Striae distensae, Aortic aneurysm |
OMIM:604308 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular matrix accumulation... |
OMIM:130090 |
| Coronary Arterial Fistula |
|
Coronary artery aneurysm, Syncope, Systolic heart murmur, Continuous heart murmur, Tachypnea, Pal... |
ORPHA:2041 |
| Immunodeficiency 49 |
|
Hirsutism, Cutis laxa, Upslanted palpebral fissure, Short palpebral fissure, Pulmonary artery ste... |
OMIM:617237 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of the pulmonary artery,... |
ORPHA:1166 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ptosis, Aortic root aneurysm, Upslanted palpebr... |
OMIM:610443 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Dilatation of... |
ORPHA:99094 |
| Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Small nail, Hirsutism, Short distal phalanx of toe, Aortic root aneurysm, Cardiomyo... |
OMIM:135500 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Talipes equinovarus, Torticollis, Aortic root aneurysm, Dysplasia of the femoral h... |
ORPHA:536467 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse and thin eyebrow, Sparse h... |
ORPHA:2722 |
| Arterial Tortuosity Syndrome |
|
Cutis laxa, Congenital diaphragmatic hernia, Ventricular hypertrophy, Arachnodactyly, Aortic tort... |
OMIM:208050 |
| Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Arthrogryposis multiplex congenita, Respiratory insufficiency, Flexion contracture, Ptosis |
OMIM:616326 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Vascular dilatation, Dilatation of the ventricular... |
OMIM:609040 |
| Loeys-Dietz Syndrome 1 |
|
Pulmonary artery aneurysm, Bicuspid aortic valve, Descending thoracic aorta aneurysm, Mitral valv... |
OMIM:609192 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal systemic arterial morphology, Abnormal cardiac ventricular function, Respiratory insuffi... |
ORPHA:90349 |
| Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Ventricular septal defect, Flexion contracture of toe, Congenital finger f... |
OMIM:615582 |
| Pleural Mesothelioma |
|
Hepatomegaly, Obstruction of the superior vena cava, Abnormal respiratory system physiology, Coug... |
ORPHA:50251 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Vascular dilatation |
OMIM:616430 |
| Myasthenic Syndrome, Congenital, 18 |
|
Respiratory insufficiency, Flexion contracture, Ptosis |
OMIM:616330 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Nonspecif... |
OMIM:610921 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Exertional dyspnea, Vascular dilatation, Congestive heart failure, Dilat... |
ORPHA:615 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Fine hair, Generalized limb muscle atrophy, Aortic root aneurysm, Brittle hair, Atrial septal def... |
OMIM:618891 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Facial palsy, Elevated ... |
OMIM:612387 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Vascular Hyalinosis |
|
Vascular dilatation, Subarachnoid hemorrhage, Premature graying of hair, Hematochezia |
OMIM:277175 |
| Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema |
ORPHA:1164 |
| Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
| Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Dyspnea, Cough, Dilatation of the sinus of Valsalva |
ORPHA:1054 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect, Stridor, Recurrent aspiration pneumonia, Ptosis, Persistent left super... |
ORPHA:2745 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Abdominal aortic aneurysm, Aortic root aneurysm, Aortic arch aneurysm, Cor... |
OMIM:617168 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Brachydactyly, Sleep apnea, Hypoplastic toenails,... |
ORPHA:444077 |
| Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa, Abnormal heart morphology, Congenital diaphragmatic hernia, Arachnodactyly, Emphysema |
OMIM:614100 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Transient ischemic... |
ORPHA:136 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse, Arachnodactyly, Aortic tortuosity, Ascending aortic dissection, Thoracic a... |
OMIM:616166 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Atherosclerosis, Cutis laxa |
OMIM:610842 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Bacterial end... |
ORPHA:3092 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Hypoxemia, Abnormal aortic arch morphology, Ventricular septal defect, H... |
ORPHA:860 |
| Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Tricuspid Atresia |
|
Persistent left superior vena cava, Transposition of the great arteries, Coarctation of aorta, Pu... |
ORPHA:1209 |
| Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Arachnodactyly, Abnormal heart valve morphology, Flexion contrac... |
ORPHA:171719 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyelashes, Skeletal muscle atrophy, Cutis laxa, Telecanthus, Sparse scalp hair, Arachnodac... |
ORPHA:75496 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Ectropion, Sparse eyebrow, ... |
ORPHA:2269 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Keratoconjunctivitis sicca, Mitral valve prolapse, Aortic root aneurysm, Long fingers, Arachnodac... |
OMIM:616914 |
| Homozygous Familial Hypercholesterolemia |
|
Coronary artery aneurysm, Myocardial steatosis, Premature coronary artery atherosclerosis, Abnorm... |
ORPHA:391665 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Abnormal aortic morphology, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Short 5th metacarpal, Pseudocoarctation of the aorta, Patent ductus arteri... |
ORPHA:228190 |
| Scimitar Syndrome |
|
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... |
ORPHA:185 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Raynaud phenomenon, Vascular di... |
OMIM:611773 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Bronchiectasis, Aortic root aneurysm, Erythema, Vasculitis in the skin, Asthma... |
OMIM:615816 |
| Ogden Syndrome |
|
Fine hair, Ventricular septal defect, Cutis laxa, Torticollis, Downslanted palpebral fissures, Br... |
ORPHA:276432 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation |
OMIM:614859 |
| Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Premature coronary artery atherosclerosis, Hypertension, Congestive heart ... |
OMIM:615703 |
| Hypocomplementemic Urticarial Vasculitis |
|
Restrictive ventilatory defect, Cough, Small vessel vasculitis, Dyspnea, Airway obstruction, Emph... |
ORPHA:36412 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
| Weaver Syndrome |
|
Fine hair, Talipes equinovarus, Large hands, Abnormal fingernail morphology, Thin nail, Abnormali... |
ORPHA:3447 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteriosus, Fair hair, ... |
ORPHA:280633 |
| Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Bradycardia, Cardiomyopathy, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type 2 muscle fi... |
OMIM:254210 |
| Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Hirsutism, Talipes equinovarus, To... |
OMIM:619472 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... |
ORPHA:264675 |
| Moyamoya Disease 1 |
|
Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy |
OMIM:252350 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Ptosis, Respiratory insufficiency due to muscle weakness, Facia... |
OMIM:300580 |
| Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Talipes equinovarus, Tortuous cerebral arteries, Aortic tortuosity, Patent... |
OMIM:613795 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, Coarctation of aorta, Generalized amyotrophy, Shoulder girdle muscle atrophy, E... |
OMIM:619178 |
| Temtamy Syndrome |
|
Genu varum, Telecanthus, Aortic aneurysm, Short toe, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1777 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Aortic an... |
OMIM:614980 |
| Rafiq Syndrome |
|
Highly arched eyebrow, Broad eyebrow, Cutis laxa, Sparse lateral eyebrow, Sparse eyebrow, Downsla... |
OMIM:614202 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia... |
OMIM:613426 |
| Phace Association |
|
Coarctation of aorta, Anomalous branches of internal carotid artery, Patent ductus arteriosus, Ao... |
OMIM:606519 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arteries, Tetralogy of Fallot, Do... |
OMIM:618780 |
| Marfan Syndrome |
|
Aortic dissection, Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Decreased muscl... |
OMIM:154700 |
| Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Ptosis, Double outlet right ventricle, Abnormal heart morphology, ... |
OMIM:618164 |
| Phace Syndrome |
|
Abnormality of the orbital region, Ptosis, Aortic root aneurysm, Abnormal heart morphology, Coarc... |
ORPHA:42775 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Abnormal aortic arch morphology, Pulmonary hypoplasia, Abnormal descending a... |
ORPHA:99050 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Abnormal aortic morphology, Tachypnea, Pulmonary arterial hypertension, Patent duct... |
OMIM:613834 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Myasthenic Syndrome, Congenital, 8 |
|
Facial palsy, Respiratory insufficiency, Ptosis |
OMIM:615120 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type 2... |
OMIM:605809 |
| Parc Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes |
OMIM:600331 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Transposition of the great arteries, Coarctation of aorta, Truncus arteriosus, Patent ductus arte... |
OMIM:612474 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Short 5th metacarpal, Short finger, Pseudocoarctation of the aorta, Patent... |
OMIM:604381 |
| Keutel Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension, Alopecia, Soft, doughy skin, Short di... |
ORPHA:85202 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Narrow palpebral fissure, Pulmonary artery dilatation, Cutis laxa, Art... |
OMIM:614437 |
| 6P22 Microdeletion Syndrome |
|
Epicanthus, Clinodactyly, Patent ductus arteriosus, Finger syndactyly, Redundant skin |
ORPHA:251046 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation |
OMIM:226100 |
| Perching Syndrome |
|
Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
| Igg4-Related Aortitis |
|
Aortic dissection, Ascending tubular aorta aneurysm, Abnormal aortic arch morphology, Thoracic ao... |
ORPHA:449400 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature coronary artery atherosclerosis, Precocious atherosclerosis, Alopecia, Myocardial infar... |
OMIM:176670 |
| Ogden Syndrome |
|
Fine hair, Ventricular septal defect, Cutis laxa, Palpebral thickening, Facial wrinkling, Long ey... |
OMIM:300855 |
| Myasthenic Syndrome, Congenital, 15 |
|
Multiple joint contractures, Ptosis |
OMIM:616227 |
| Thanatophoric Dysplasia |
|
Respiratory insufficiency, Abnormality of the metaphysis, Patent ductus arteriosus, Downslanted p... |
ORPHA:2655 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Highly arched eyebrow, 2-3 toe syndactyly, Laterally extended eyebrow, Ventricular septal defect,... |
OMIM:600987 |
| Progeroid Syndrome, Petty Type |
|
Long eyelashes in irregular rows, Abnormal hair morphology, Cutis laxa, Brittle hair, Epicanthus,... |
ORPHA:2963 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pulmonary hypoplasia, Emphysema, Vascular dilatation, Pulmonary artery stenosis, Tracheomalacia |
OMIM:613177 |
| Cranioectodermal Dysplasia 3 |
|
Fine hair, Short nail, Broad nail, Cutis laxa, Peripheral pulmonary artery stenosis, Postaxial po... |
OMIM:614099 |
| Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Crackles, Systolic hea... |
ORPHA:99095 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Interphalangeal joint contracture of finger, Sparse hair, Ptosis, Knee flexion contracture, Thick... |
OMIM:606242 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Coronary artery atherosclerosis |
ORPHA:79084 |
| Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta, Facial palsy |
OMIM:107550 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Emphysema, Mitral regurgitation |
OMIM:123700 |
| De Barsy Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Cutis laxa, Adducted thumb, Talipes equinovarus... |
ORPHA:2962 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm |
ORPHA:2140 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Thoracic aortic aneurysm, Exertional dyspnea, Basilar artery calcification, Vasculitis, Sleep apn... |
ORPHA:365 |
| Autosomal Dominant Coarctation Of Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch... |
ORPHA:1455 |
| Macs Syndrome |
|
Cutis laxa, Bronchiectasis, Alopecia, Downslanted palpebral fissures, Palpebral edema, Hyperexten... |
OMIM:613075 |
| Wyburn-Mason Syndrome |
|
Cerebral hemorrhage, Epistaxis, Vascular dilatation, Subarachnoid hemorrhage, Peripheral arteriov... |
ORPHA:53719 |
| Waardenburg Syndrome Type 2 |
|
Ptosis, Telecanthus, White forelock, Abnormality of the pulmonary artery, Hypopigmentation of hai... |
ORPHA:895 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Fine hair, Cutis laxa, Epicanthus, Sandal gap, Syndactyly, Thick eyebrow, Micromelia, Brachydactyly |
OMIM:614800 |
| Non-Specific Syndromic Intellectual Disability |
|
Highly arched eyebrow, Pulmonary artery dilatation, Blepharophimosis, Ptosis, Broad thumb, Aortic... |
ORPHA:528084 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Arteriosclerosis of small cerebral arteries, Alopecia |
OMIM:600142 |
| Aneurysm-Osteoarthritis Syndrome |
|
Aortic dissection, Abdominal aortic aneurysm, Dilatation of the sinus of Valsalva, Arterial tortu... |
ORPHA:284984 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Premature coronary artery atherosclerosis, Angina pectoris |
ORPHA:140905 |
| Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Type IV atherosclerotic lesion, Premature coronary artery atheroscle... |
ORPHA:412 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Upper airway obstruction, Respiratory distress, Dyspnea, Aspiratio... |
ORPHA:141152 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
| Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Alopecia, Facial palsy, Absent eyebrow, Patent ductus arteriosus, Abse... |
OMIM:147770 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Skeletal muscle atrophy, Hip contracture, Rocker bottom foot, Abnormal... |
ORPHA:1143 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus |
OMIM:220220 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair |
OMIM:212835 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Sparse lateral eyebrow, Epicanthus, Abnormal hair pattern, Downslanted pal... |
ORPHA:1807 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Right aortic arch with mirror image branching, Pulmonary artery atresia |
OMIM:606217 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Long eyelashes, Distal amyotrophy, Sparse hair, Long eyebrows |
OMIM:275400 |
| Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Recurrent bronchitis, Vasculitis, Restrictive ventilatory defect, Recu... |
ORPHA:1572 |
| Partial Atrioventricular Septal Defect |
|
Syncope, Mitral regurgitation, Angina pectoris, Palpitations, Double outlet right ventricle, Hear... |
ORPHA:1330 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair |
ORPHA:1008 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Cerebral hemorrhage, Retinal hemorrhage, Medial calcification of medium-sized arteries, Arteriosc... |
OMIM:177850 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Calf muscle hypertrophy, Ptosis |
OMIM:618197 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia |
OMIM:601163 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Upper limb undergrowth, Hepatomegaly, Small hand, Downslanted palpebra... |
OMIM:608799 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Abnormal systemic arterial morphology, Mitral valve prolapse, Aortic root aneurysm, Dilatation of... |
ORPHA:730 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
| Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... |
ORPHA:3361 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Tangier Disease |
|
Facial diplegia, Nail dystrophy, Left ventricular hypertrophy, Myocardial infarction, Distal amyo... |
OMIM:205400 |
| Pseudoxanthoma Elasticum |
|
Hypertension, Angina pectoris, Restrictive cardiomyopathy, Telangiectasia of the skin, Gastrointe... |
ORPHA:758 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Upslanted palpebral fissure, Brittle hair, Alopecia, Nail dystrophy, C... |
ORPHA:75389 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Total anomalous pulmonary venous return, Coarctation of aorta, Hyp... |
OMIM:613854 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Right aortic arch, Ventricular septal defect, Atrioventricular canal defect, Dextrocardia |
OMIM:613751 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Congenital diaphragmatic hernia, Coarctation of aorta, Patent ductus arteriosus... |
ORPHA:1120 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Coronary artery atherosclerosis, Prominent superficial veins |
OMIM:608600 |
| Gastritis, Familial Giant Hypertrophic |
|
Vascular dilatation |
OMIM:137280 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory insufficiency, Talipes equinovarus, Facial palsy, Respiratory failure, Respiratory di... |
OMIM:614399 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Neonatal respiratory distress, Symphalangis... |
ORPHA:2990 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Carotid cavernous fistula, Alopecia of scalp, Pneumothorax, Pulmonary bleb, Arterial rupture, Pul... |
OMIM:130050 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distress, Flexion... |
ORPHA:77260 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hip contracture, Knee flexion contracture, Vascular dilatation, Flexion contracture, Elbow flexio... |
OMIM:616809 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Abnormal lung lobation |
ORPHA:2516 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Hypertension, Ischemic stroke, ... |
ORPHA:280679 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Foam cells with lamellar inclusion bodies, Re... |
OMIM:607616 |
| Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth |
OMIM:274210 |
| Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Cutis laxa, Adducted thumb, Peripheral pulmonary artery stenosis, Bronchiect... |
ORPHA:90348 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Metaphyseal dysplasia, Talipes equinovarus, Dysplasia of the femoral head, Restric... |
ORPHA:536471 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Ptosis, Epicanth... |
OMIM:615355 |
| Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema |
OMIM:604571 |
| Flynn-Aird Syndrome |
|
Skin ulcer, Alopecia, Atherosclerosis, Skeletal muscle atrophy |
ORPHA:2047 |
| Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Abnormality of the metaphysis, Patent... |
ORPHA:93274 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Ptosis |
OMIM:614750 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cough, Card... |
ORPHA:86812 |
| Oculomotor-Levator Synkinesis |
|
Abnormal eyelid morphology, Eyelid retraction, Ptosis |
OMIM:151610 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Dextrocardia, Bronchiectasis, Chronic rhinitis, Situs inversus totalis, Rhinorrhea, Rig... |
OMIM:617577 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Talipes equinovarus, Epicanthus, Soft, doughy skin, Hyperextensible skin, Soft skin, Recurrent si... |
OMIM:130010 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Myopathy, Skeletal muscle atrophy, Respiratory insufficiency, Weakness of facial musculature, Bil... |
ORPHA:254875 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Cockayne Syndrome Type 3 |
|
Keratoconjunctivitis sicca, Hepatomegaly, Skeletal muscle atrophy, Dry hair, Aortic root aneurysm... |
ORPHA:90324 |
| Fanconi Renotubular Syndrome 5 |
|
Hypertension, Lung adenocarcinoma, Decreased DLCO, Pulmonary fibrosis, Emphysema |
OMIM:618913 |
| Myopathy And Diabetes Mellitus |
|
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... |
ORPHA:2596 |
| Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Triphalangeal thumb, Radioulnar synostosis, Ulna... |
ORPHA:2876 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail, Short finger, Tapered finger |
OMIM:302000 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Thumb Deformity And Alopecia |
|
Short thumb, Alopecia |
OMIM:188150 |
| 16P13.11 Microduplication Syndrome |
|
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:261243 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Respiratory insufficiency, Weakness of facial musculature, Internally nucleated skeletal muscle f... |
OMIM:618654 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Redundant skin, Cutis laxa, Increased number of skin folds |
ORPHA:436274 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, 2-3 toe syndactyly, Ventricular septal defect, Talipes equinovarus, Persis... |
ORPHA:477817 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
| Periventricular Nodular Heterotopia |
|
Abnormal heart valve morphology, Patent ductus arteriosus, Aortic aneurysm |
ORPHA:98892 |
| Aorta Coarctation |
|
Hypertension, Coarctation of the descending aortic arch, Persistent left superior vena cava, Pulm... |
ORPHA:1457 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia |
OMIM:615524 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Hypertrichosis, Ptosis, Telecanthus, Downslanted palpebral fissures, P... |
OMIM:619189 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Meacham Syndrome |
|
Death in infancy, Persistent left superior vena cava, Neonatal death, Coarctation of aorta, Aplas... |
OMIM:608978 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Redundant neck skin, Cutis laxa, Excessive wrinkled skin, Coarse hair, Pro... |
ORPHA:357074 |
| Man1B1-Cdg |
|
2-3 toe syndactyly, Cutis laxa, Long eyelashes, Sparse eyebrow, Epicanthus, Downslanted palpebral... |
ORPHA:397941 |
| Marfan Syndrome |
|
Dilatation of an abdominal artery, Ascending tubular aorta aneurysm, Pulmonary artery dilatation,... |
ORPHA:558 |
| Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Chronic pulmona... |
ORPHA:439232 |
| Deafness, X-Linked 7 |
|
Telecanthus, Thick eyebrow, Ptosis |
OMIM:301018 |
| Pseudoxanthoma Elasticum |
|
Hypertension, Accelerated atherosclerosis, Retinal hemorrhage, Renovascular hypertension, Restric... |
OMIM:264800 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Ptosis, Coarctation of aorta, Sparse eyebrow, Downslanted palpebral fi... |
OMIM:616559 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Redundant skin |
OMIM:301021 |
| Fragile X Syndrome |
|
Sinusitis, Ascending tubular aorta aneurysm, Mitral valve prolapse |
ORPHA:908 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Palmoplantar cutis... |
OMIM:616564 |
| Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Coarctation of aorta |
OMIM:301022 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Triphalangeal thumb, Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Finger syndact... |
ORPHA:2251 |
| Congenital Contractural Arachnodactyly |
|
Mitral valve prolapse, Arthrogryposis multiplex congenita, Arachnodactyly, Aortic aneurysm, Flexi... |
ORPHA:115 |
| Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Dry skin, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Spa... |
OMIM:190360 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Respiratory distress, Hirsutism, Flexion contracture |
OMIM:618006 |
| Menkes Disease |
|
Metaphyseal widening, Sparse hair, Cutis laxa, Metaphyseal spurs |
OMIM:309400 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Truncus arteriosus, Transposition of the gre... |
OMIM:217095 |
| Hadziselimovic Syndrome |
|
Ventricular septal defect, Low anterior hairline, Ptosis, Ventricular hypertrophy, Epicanthus, At... |
OMIM:612946 |
| Osteogenesis Imperfecta |
|
Aortic dissection, Neonatal respiratory distress, Abnormality of femur morphology, Diaphyseal thi... |
ORPHA:666 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vascular dilatation |
OMIM:617219 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Excessive wrinkled skin, Curly eyelashes, Alopecia, Abnormal hair pattern,... |
ORPHA:3051 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Mitral valve prolapse, Thin eyebrow, Bilateral ptosis, Hyperextensible skin, Low p... |
OMIM:618000 |
| Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... |
ORPHA:980 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... |
ORPHA:238329 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, Nail pits |
ORPHA:169095 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Giant Cell Arteritis |
|
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Double outlet right ventricle with su... |
ORPHA:397 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Fine hair, Cutis laxa, Excessive wrinkled skin, Dermal translucency, Sparse hair, Blepharophimosi... |
OMIM:614438 |
| Transaldolase Deficiency |
|
Telangiectasia, Coarctation of aorta, Abnormal respiratory system physiology |
ORPHA:101028 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, R... |
ORPHA:254864 |
| Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:380 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Redundant skin, Downslanted palpebral fissures, Prominent superficial v... |
OMIM:612940 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus |
OMIM:614432 |
| Temtamy Syndrome |
|
Highly arched eyebrow, Short 2nd toe, Talipes equinovarus, Downslanted palpebral fissures, Aortic... |
OMIM:218340 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Split hand, Flexion contracture, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:2850 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Agel Amyloidosis |
|
Keratoconjunctivitis sicca, Cutis laxa, Bilateral ptosis, Nail dystrophy, Facial palsy, Cardiomyo... |
ORPHA:85448 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Upslanted palpebral fissure, Alopecia, Short palpebral fissure, Broad thumb, Sparse hair, Brachyd... |
OMIM:617763 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Classical Ehlers-Danlos Syndrome |
|
Arteriovenous fistula, Ecchymosis, Mitral valve prolapse, Talipes equinovarus, Dermatochalasis, A... |
ORPHA:287 |
| Char Syndrome |
|
Highly arched eyebrow, Ptosis, Patent ductus arteriosus, Thick eyebrow, Distal/middle symphalangi... |
OMIM:169100 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hirsutism, Telecanthus, Patent ductus arteriosus, Splenomegaly, Low posterior hairline, Recurrent... |
OMIM:617303 |
| Blepharonasofacial Malformation Syndrome |
|
Sparse lateral eyebrow, Telecanthus, Epicanthus, Finger syndactyly, Redundant skin, Low posterior... |
ORPHA:1252 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Ptosis, Postaxial polydactyly,... |
OMIM:603387 |
| Costello Syndrome |
|
Hypoplastic toenails, Hypertrophic cardiomyopathy, Ventricular septal defect, Abnormal hair morph... |
ORPHA:3071 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Keutel Syndrome |
|
Sinusitis, Hypertension, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Chronic sinu... |
OMIM:245150 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
| Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... |
ORPHA:3384 |
| Familial Thrombocytosis |
|
Syncope, Pulmonary arterial hypertension, Cerebral ischemia, Transient ischemic attack, Periphera... |
ORPHA:71493 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Woolly hair |
OMIM:601217 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Decreased muscle mass, Narrow palpebral fissure, Hyperextensible skin, Excessive skin wrinkling o... |
OMIM:608763 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia, Redundant skin |
OMIM:615721 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Bronchiectasis, Pyoderma gangrenosum, Recurrent sinopulmonary infe... |
OMIM:616576 |
| Pili Torti-Onychodysplasia Syndrome |
|
Conjunctival hyperemia, Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes,... |
ORPHA:2890 |
| C Syndrome |
|
Toe syndactyly, Ventricular septal defect, Hepatomegaly, Cutis laxa, Ulnar deviation of finger, L... |
OMIM:211750 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Fine hair, Patent ductus arteriosus, Recurrent respiratory infections, Vascular dilatation, Arter... |
ORPHA:2637 |
| Anauxetic Dysplasia 3 |
|
Broad eyebrow, Femoral bowing, Short middle phalanx of finger, Small nail, Cutis laxa, Genu valgu... |
OMIM:618853 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cutis laxa, Talipes equinovarus, Carpal synostosis, Advanced ossification of carpal bones, Hypere... |
OMIM:615349 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Tachypnea, Hypertension, Pulmonary arterial hypertension, Vascular dilatation |
OMIM:613320 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Vascular dilatation |
OMIM:617056 |
| Noonan Syndrome 2 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Ptosis, Atrioven... |
OMIM:605275 |
| Arthrogryposis, Distal, Type 7 |
|
Metatarsus adductus, Distal arthrogryposis, Talipes equinovarus, Hammertoe, Ptosis, Arthrogryposi... |
OMIM:158300 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Myocardial infarction, Hypertension, Accelerated atherosclerosis, Coronary artery atherosclerosis |
OMIM:618620 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
| Netherton Syndrome |
|
Fine hair, Sparse eyelashes, Abnormal hair morphology, Sparse scalp hair, Trichorrhexis nodosa, A... |
ORPHA:634 |
| Chromosome 18Q Deletion Syndrome |
|
Toe syndactyly, Ascending tubular aorta aneurysm, Ventricular septal defect, Talipes equinovarus,... |
OMIM:601808 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Hirsutism, Spontaneous neonatal pneumothorax, Limb undergrowth, Epicanthus, Downslanted palpebral... |
OMIM:225410 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Erythema, Alopecia, Abnormal eyelid morphology, Splenomegaly, Abnormality of the na... |
ORPHA:2584 |
| Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Weaver Syndrome |
|
Talipes equinovarus, Joint contracture of the hand, Deep-set nails, Diastasis recti, Camptodactyl... |
OMIM:277590 |
| Apolipoprotein A-I Deficiency |
|
Premature coronary artery atherosclerosis, Atherosclerosis, Angina pectoris |
ORPHA:425 |
| Hypophosphatasia |
|
Emphysema, Respiratory insufficiency |
ORPHA:436 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Epicanthus, Redundant skin |
ORPHA:1779 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia, Facial erythema, Camptodactyly of finger, Dry skin |
OMIM:212360 |
| Thanatophoric Dysplasia Type 1 |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Excessive wrinkled skin, Bowing of th... |
ORPHA:1860 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Ciliary dyskinesia, Dystrophic toenail, Sparse and thin eyebro... |
ORPHA:1882 |
| Congenital Aortic Valve Stenosis |
|
Endocarditis, Dysplastic aortic valve, Endocardial fibroelastosis, Aortic valve calcification, Le... |
ORPHA:3093 |
| Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia |
ORPHA:36 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Respiratory insufficiency, Upslanted palpebral fissure, Rhizomelia, Alopecia, Flexion contracture... |
OMIM:215100 |
| Recombinant 8 Syndrome |
|
Ventricular septal defect, Abnormal hair morphology, Patellar aplasia, Patent ductus arteriosus, ... |
ORPHA:96167 |
| Pericardial And Diaphragmatic Defect |
|
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Patent d... |
ORPHA:2847 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Cutaneous finger syndactyly, Sparse eyelashes, Small nail, Sparse and thin eyebrow, Coarse hair, ... |
OMIM:613573 |
| Marfanoid Hypermobility Syndrome |
|
Aortic regurgitation, Mitral regurgitation, Aortic aneurysm |
OMIM:154750 |
| Johnson Neuroectodermal Syndrome |
|
Alopecia, Facial palsy, Absent eyebrow, Absent eyelashes, Downslanted palpebral fissures, Tetralo... |
ORPHA:2316 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Myopathy, Minicore myopathy, Ptosis, Respiratory insufficiency due to muscle weakness, Scapular w... |
ORPHA:424107 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Aortic dissection, Decreased muscle mass, Mitral valve prolapse, Abnormal venous morphology, Limb... |
ORPHA:1900 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Curly eyelashes, Long eyelashe... |
OMIM:239850 |
| Dural Sinus Malformation |
|
Arteriovenous fistula, Cerebral hemorrhage, Carotid cavernous fistula, Intracranial hemorrhage, S... |
ORPHA:97339 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Coarctation of aorta, Skeletal muscle atrophy, Pulmonic stenosis |
OMIM:614300 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Cutaneous finger syndactyly, Alopecia, Telecanthus, Short middle phalanx of the 5th finger, Flexi... |
OMIM:203550 |
| Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cutis laxa, Cardiomyopathy |
OMIM:105120 |
| 2p15-16.1 microdeletion syndrome |
|
Telecanthus, Downslanted palpebral fissures, Camptodactyly of finger, Ptosis |
DECIPHER:70 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Bilateral ptosis, A... |
ORPHA:254361 |
| Grange Syndrome |
|
Carotid artery stenosis, Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension |
OMIM:602531 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Myopathy, Respiratory insufficiency, Ptosis |
OMIM:616321 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Restrictive ven... |
ORPHA:538 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Skeletal muscle atrophy, Flexion contracture |
OMIM:612079 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic root aneurysm, Patent ductus arteriosus, Ca... |
OMIM:607872 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
| Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
| Scarf Syndrome |
|
Hypoplastic nipples, Cutis laxa, Ptosis, Epicanthus, Downslanted palpebral fissures, Diastasis re... |
ORPHA:3134 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Obstructive sleep apnea, Ptosis, Facial palsy, Generalized amyotrophy, Exertional dyspnea, Limb-g... |
OMIM:615156 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Myopathy, Respiratory insufficiency, Ptosis, Respiratory insufficiency due to muscle weakness, Fa... |
OMIM:301830 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Varicose veins, Vascular dilatation, Camptodactyly |
OMIM:618343 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Respiratory insufficiency, Ptosis |
OMIM:616323 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology |
ORPHA:3405 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Obstruction of the superior vena cava, Alopecia, Recurrent lower respiratory tract ... |
OMIM:615559 |
| Mental Retardation, Autosomal Dominant 21 |
|
Coarctation of aorta, Epicanthus, Long eyelashes, Patent ductus arteriosus, Atrial septal defect |
OMIM:615502 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Sparse eyelashes, Right ventricular dilatation, Dysplastic tricuspid valve, Mitral valve prolapse... |
OMIM:612863 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Cutis laxa, Mitral valve prolapse, Ptosis, Short chordae tendineae of the ... |
OMIM:314400 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Redundant neck skin, Pulmonary arterial hypertension, Epicanthus, Pate... |
ORPHA:2519 |
| Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
2-3 toe syndactyly, Ptosis, Epicanthus, Horizontal eyebrow, Clinodactyly |
OMIM:619311 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Upslanted palpebral fissure, Telecanthus, Epicanthus, P... |
OMIM:601927 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Hypoplastic nipples, Patent ductus arteriosus, Short palpebral fissure, De... |
OMIM:612289 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Cerebral artery atherosclerosis, Renal artery stenosis, Coronary artery atherosclerosis |
OMIM:209010 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy |
OMIM:619099 |
| Deafness-Craniofacial Syndrome |
|
Alopecia |
OMIM:125230 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Cough, Decreased DLCO, Pulm... |
OMIM:234810 |
| Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Congenital diaphragmatic hernia, Coarctation of aorta, Right aortic arch with... |
OMIM:601186 |
| Frontonasal Dysplasia 1 |
|
Ptosis, Epicanthus, Joint contracture of the hand, Radial deviation of finger, Tetralogy of Fallo... |
OMIM:136760 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Vascular dilatation |
OMIM:277320 |
| Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Arteriovenous malformation, Pulmonary arterial hypertension,... |
ORPHA:974 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Redundant neck skin, Hypoplastic nipples, Prominent calcaneus, Short palp... |
ORPHA:96334 |
| Cheilitis Glandularis |
|
Vascular dilatation |
OMIM:118330 |
| Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
2-3 toe syndactyly, Persistent left superior vena cava, Double outlet right ventricle, Downslante... |
ORPHA:3304 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Neonatal respiratory distress, Redundant neck skin, Ptosis, Telecanthus, Proximal placement of th... |
OMIM:217980 |
| 20Q13.33 Microdeletion Syndrome |
|
Short lower limbs, Highly arched eyebrow, Hallux valgus, Abnormal cardiac ventricle morphology, T... |
ORPHA:261311 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Sparse eyelashes, Alopecia, Telecanthus, Preaxial polydactyly, Complete duplication of the 1st me... |
OMIM:129540 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Syndactyly, Tetralo... |
OMIM:601005 |
| Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Tapered finger, Alopecia, Erythema, Generalized hirsutism, Abnormality ... |
ORPHA:317 |
| Caroli Disease, Isolated |
|
Portal hypertension, Vascular dilatation |
OMIM:600643 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Renal artery atherosclerosis, Increased muscle lipid content, Coronary artery stenosis, Skeletal ... |
ORPHA:565612 |
| Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Myopathy, Obstructive sleep apnea, Congenital ptosis, Exertional dyspnea, Multiple joint contract... |
ORPHA:352470 |
| Parkes Weber Syndrome |
|
Arteriovenous fistula, Muscle hypertrophy of the lower extremities, Abnormal lymphatic vessel mor... |
ORPHA:90307 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Arter... |
OMIM:178600 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:612530 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... |
OMIM:610338 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hypertension, S... |
ORPHA:79083 |
| Hypercholesterolemia, Familial, 1 |
|
Tendon xanthomatosis, Coronary artery atherosclerosis |
OMIM:143890 |
| Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Coarctation of aorta |
ORPHA:1923 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Metatarsus adductus, Mitral valve prolapse, Obstructive sleep apnea, Talipes equinovarus, Ptosis,... |
OMIM:182212 |
| Myasthenic Syndrome, Congenital, 17 |
|
Ptosis |
OMIM:616304 |
| Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Sparse eyelashes, Nail dystrophy, Pulmonary arterial hypertension, Alope... |
OMIM:614008 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Dystrophic fingernails, Cough, Vascular dilatation, Recurrent respirato... |
ORPHA:2314 |
| Ptosis, Hereditary Congenital 2 |
|
Ptosis |
OMIM:300245 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposition of the grea... |
OMIM:313850 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Abnormal heart morphology, Hypopigmentation of hair, Alopecia, Ptosis |
ORPHA:1067 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
| Epilepsy, Pyridoxine-Dependent |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:266100 |
| Cardiofaciocutaneous Syndrome |
|
Abnormality of the ulna, Brittle hair, Low posterior hairline, Sparse hair, Abnormal eyelash morp... |
ORPHA:1340 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal aortic morphology, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposit... |
ORPHA:251071 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Pneumonia, Respiratory distress, Type 1 fibers relatively smaller... |
ORPHA:596 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Cutis laxa, Brittle hair, Coarse hair, Downslanted palpebral fissures, Abnormality of hair textur... |
OMIM:219200 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Neonatal respiratory distress, Hirsutism, Hip contracture, Mitral atresia, Apnea, Telecanthus, Sl... |
OMIM:619503 |
| Granulomatous Slack Skin |
|
Erythema, Cutis laxa, Redundant skin |
ORPHA:33111 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:2001 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Sparse eyelashes, Talipes equinovarus, Patent ductus arteriosus, Aplastic/hypoplastic toenail, Hi... |
OMIM:619293 |
| Oculopharyngeal Muscular Dystrophy |
|
Progressive ptosis, Facial palsy, Limb muscle weakness |
OMIM:164300 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Distal arthrogryposis, Ankle flexion contracture, Hip contracture, Talipes equinovarus, Ptosis, A... |
OMIM:617468 |
| Scarf Syndrome |
|
Hypoplastic nipples, Cutis laxa, Low anterior hairline, Ptosis, Epicanthus, Downslanted palpebral... |
OMIM:312830 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Cutis laxa |
OMIM:301045 |
| Senior-Loken Syndrome 8 |
|
Vascular dilatation |
OMIM:616307 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle... |
ORPHA:2348 |
| Oculomotor-Abducens Synkinesis |
|
Ptosis |
OMIM:619215 |
| Aldh18A1-Related De Barsy Syndrome |
|
Hyperextensible skin |
ORPHA:35664 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Dilatation of celiac artery, Cerebral hemorrhage, Lip telangiectasia, Ischemic stroke, Spinal art... |
OMIM:610655 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Talipes equinovarus, Rocker bottom foot, Facial diplegia, Hand clenching... |
OMIM:611890 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Myopathy, Cardiomyopathy |
ORPHA:26792 |
| Synaptic Congenital Myasthenic Syndromes |
|
Myopathy, Neonatal respiratory distress, Hand muscle weakness, Respiratory insufficiency, Skeleta... |
ORPHA:98915 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Fatty replacement of ... |
ORPHA:171706 |
| Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, Ptosis, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Skeletal muscle atrophy, Alopecia, Nail dysplasia, Pulmonary fibrosis |
OMIM:615704 |
| Hypertrichosis Cubiti |
|
Ptosis, Rhizomelia, Downslanted palpebral fissures, Abnormal eyelid morphology, Thick eyebrow, Ge... |
ORPHA:2220 |
| Cranioectodermal Dysplasia 2 |
|
Sparse eyelashes, Telecanthus, Patent ductus arteriosus, Splenomegaly, Syndactyly, Sparse hair, S... |
OMIM:613610 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Genu varum, Downslanted palpebral fissures, Overriding aorta, Ar... |
ORPHA:1110 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:2143 |
| Fibrosis Of Extraocular Muscles, Congenital, 5 |
|
Ptosis |
OMIM:616219 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Ptosis, Apnea, Facial palsy, Knee flexion contracture |
OMIM:617239 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Tachypnea, Double outlet right ventricle, Coarctation of aorta, Tachycardia, ... |
ORPHA:3426 |
| Diabetic Embryopathy |
|
Abnormal aortic morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Transposition o... |
ORPHA:1926 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Dry skin, Abnormal fi... |
ORPHA:248 |
| Menkes Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial hemorrhage, Hypopigmentation o... |
ORPHA:565 |
| Ptosis, Strabismus, And Ectopic Pupils |
|
Ptosis |
OMIM:178330 |
| Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63862 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Hypertrichosis, Mitral valve prolapse, Ptosis, Telecanthus, Restricti... |
OMIM:247410 |
| Bifid Nose, Autosomal Dominant |
|
Ptosis |
OMIM:109740 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, ... |
ORPHA:98913 |
| Chromosome 15Q25 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia |
OMIM:614294 |
| Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
| Myasthenic Syndrome, Congenital, 19 |
|
Facial palsy, Respiratory insufficiency, Recurrent lower respiratory tract infections, Ptosis |
OMIM:616720 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa |
ORPHA:79148 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Precocious atherosclerosis, Mitral valve prolapse, Skeletal muscle atrophy, Hyperextensible skin |
ORPHA:230839 |
| Holt-Oram Syndrome |
|
Abnormal aortic morphology, Atrioventricular block, Patent ductus arteriosus, Anomalous pulmonary... |
ORPHA:392 |
| Aortic Arch Interruption |
|
Truncus arteriosus, Patent ductus arteriosus, Intermittent claudication, Exertional dyspnea, Abno... |
ORPHA:2299 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Hypertrichosis, Cutis laxa |
OMIM:612379 |
| Cardiac Diverticulum |
|
Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Patent ductus arte... |
ORPHA:1686 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Diaphyseal thickening, Proximal symphalangism of hands, Cutis laxa, Humeroradial synostosis, Lacr... |
OMIM:151050 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Respiratory insufficiency, Limb mus... |
OMIM:603034 |
| Juvenile Dermatomyositis |
|
Calcinosis, Dry skin, Pericarditis, Myositis, Alopecia, Erythema, Cough, Cardiomyopathy, Vasculit... |
ORPHA:93672 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Metaphyseal dysplasia, Abnormality of femur morphology... |
ORPHA:1842 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea... |
OMIM:265120 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... |
OMIM:619632 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Ptosis, Leg muscle stiffness |
OMIM:108600 |
| Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Hypertension, Granulomatous coronary arteritis, Vascular dilatation, Pleural effusion |
OMIM:108050 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Hypertrophic cardiomyopathy, Hepatomegaly, Ragged-red muscle fibers, Ske... |
ORPHA:17 |
| Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Talipes equinovarus, Ptosis, Ulnar deviation of finger, Telecanthus... |
OMIM:277720 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Rec... |
OMIM:263000 |
| Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
| Gapo Syndrome |
|
Hepatomegaly, Sparse eyelashes, Sparse hair, Hypoplastic nipples, Alopecia, Sparse eyebrow, Nail ... |
OMIM:230740 |
| Sézary Syndrome |
|
Hepatomegaly, Skeletal muscle atrophy, Ectropion, Nail dystrophy, Alopecia, Splenomegaly, Abnorma... |
ORPHA:3162 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Ascending tubular aorta aneurysm, Arachnodactyly, Atrial septal defect... |
OMIM:309520 |
| Proteus Syndrome |
|
Limbal dermoid, Ptosis, Downslanted palpebral fissures, Splenomegaly, Venous malformation |
OMIM:176920 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Respiratory distress, Myopathy |
ORPHA:91130 |
| Emanuel Syndrome |
|
Congenital diaphragmatic hernia, Truncus arteriosus, Inguinal hernia, Patent ductus arteriosus |
OMIM:609029 |
