Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3 |
|
Reduced forced vital capacity, Usual interstitial pneumonia, Pulmonary fibrosis, Reduced forced e... |
OMIM:616373 |
Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4 |
|
Honeycomb lung, Reduced forced vital capacity, Cough, Pulmonary fibrosis, Reduced forced expirato... |
OMIM:616371 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Idiopathic Pulmonary Fibrosis |
|
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... |
ORPHA:2032 |
Coronary Arterial Fistula |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Ethanolaminosis |
|
Cardiomegaly, Death in infancy |
OMIM:227150 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Congenital Gerbode Defect |
|
Systolic heart murmur, Crackles, Palpitations, Elevated right atrial pressure, Tricuspid regurgit... |
ORPHA:99095 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v... |
ORPHA:1457 |
Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:2111 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Cyanosis, Splenomegaly, Chylopericardium, Chronic pulmonary obst... |
ORPHA:2414 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:249670 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricu... |
ORPHA:860 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... |
OMIM:620067 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia |
OMIM:247610 |
Congenital Aortic Valve Stenosis |
|
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... |
ORPHA:3093 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology,... |
ORPHA:1461 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Tricuspid Atresia |
|
Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A... |
ORPHA:1209 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage |
OMIM:178550 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... |
OMIM:614823 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... |
OMIM:616201 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Polyvalvular Heart Disease Syndrome |
|
Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon... |
ORPHA:228410 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated cardiomyopathy, Left ventr... |
OMIM:613642 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia, Weakness of facial musculature, Angulated muscle fibers, Scapular winging, ... |
OMIM:619477 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Death in infancy, Hepatomegaly, Pulmonic ste... |
OMIM:619433 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... |
OMIM:618782 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart mu... |
ORPHA:439 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Asthma, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis med... |
OMIM:618254 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Right aortic arch, Hyp... |
OMIM:613854 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary arterial hypertension, Sudden cardiac death, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Nephronophthisis 16 |
|
Patent ductus arteriosus, Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, A... |
OMIM:615382 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... |
ORPHA:133 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery ... |
OMIM:185500 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology |
ORPHA:2868 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Exertional dyspnea, Coronary artery atheroscleros... |
ORPHA:229 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve stenosis, Aortic valve calcification |
OMIM:114065 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis |
ORPHA:2871 |
Asbestos Intoxication |
|
Myocardial fibrosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Nonprod... |
ORPHA:2302 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Elevated pulmonary artery pressure, Right ventric... |
ORPHA:99094 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Cyanosis, Atrial septal defect, Tetralog... |
ORPHA:3304 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... |
OMIM:610913 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnorm... |
ORPHA:216694 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:251076 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ... |
ORPHA:402075 |
Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
Atrial Fibrillation, Familial, 10 |
|
Left ventricular hypertrophy, Left atrial enlargement, Right ventricular dilatation, Stroke |
OMIM:614022 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Obstructive sleep apnea |
OMIM:607016 |
Aortic Arch Interruption |
|
Cyanosis, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary windo... |
ORPHA:2299 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5 |
|
Pulmonary fibrosis |
OMIM:618674 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Dyspnea,... |
OMIM:610476 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Calcification of the aorta, Pancytopenia, Hepatomegaly, Cardiomega... |
OMIM:231005 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... |
ORPHA:1303 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Pulmonic stenosis, Atrial septal defect |
OMIM:618499 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent ... |
ORPHA:363705 |
Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615451 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure, Respiratory distress |
ORPHA:91130 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Exertional dyspnea, Calf muscle hypertrophy, A... |
ORPHA:254361 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
B lymphocytopenia, Absent circulating B cells, Hypertrophic cardiomyopathy, Decreased proportion ... |
OMIM:619705 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... |
OMIM:612444 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Bronchiectasis, Pericardial effusion, Subpleural honeycombing,... |
ORPHA:79126 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormal pleura morphology, Abnormal breath sound, Myocardial fibrosis, Crackles, Restrictive ven... |
ORPHA:210136 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Situs ... |
OMIM:608644 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Vascular dilatation, Exertional dyspnea, Pulmonic valve myxoma, Heart mur... |
ORPHA:615 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Abnormality of the... |
ORPHA:1354 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
Double Outlet Right Ventricle |
|
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart mur... |
ORPHA:3426 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
OMIM:220210 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Per... |
ORPHA:555874 |
Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Aortic valve calcification |
OMIM:616298 |
Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, Stillbi... |
OMIM:615415 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, A... |
ORPHA:1329 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... |
OMIM:618781 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
Truncus Arteriosus |
|
Cyanosis, Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular septal defect, ... |
ORPHA:3384 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Respiratory failure, Respiratory distress, Cough, Cor pulmonale, Tachypnea |
OMIM:263000 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Cough,... |
OMIM:300991 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Systolic heart murmur, Supraventricular arrhythmia, Palpitations, Pneumonia, Exertional... |
ORPHA:99104 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor, Optic atrophy, Optic disc pallor |
OMIM:165300 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Left ventricular outflow tract obstruction, Aortopulmonary window, Abnormal aortic arch... |
ORPHA:99050 |
Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Pulmonary arter... |
ORPHA:210122 |
Scedosporiosis |
|
Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... |
ORPHA:449280 |
Bronchopulmonary Dysplasia |
|
Hyperoxemia, Tracheobronchomalacia, Abnormal respiratory system physiology, Respiratory distress,... |
ORPHA:70589 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Atrial ... |
OMIM:601927 |
Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... |
OMIM:611884 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, A... |
ORPHA:99106 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation |
OMIM:615616 |
Young Syndrome |
|
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... |
OMIM:279000 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnormal l... |
ORPHA:99103 |
Von Willebrand Disease, Type 1 |
|
Mitral valve prolapse, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage, Gastroint... |
OMIM:193400 |
Spinal Muscular Atrophy, Type I |
|
Death in childhood, Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements |
OMIM:611092 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Death in infancy, Congestive heart failure, Hypertrop... |
OMIM:614096 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma... |
OMIM:616414 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... |
OMIM:614561 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis, Persis... |
OMIM:609008 |
Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Reticular pat... |
ORPHA:99931 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Congestive heart... |
ORPHA:324410 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... |
OMIM:615294 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Subcutaneous hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis... |
ORPHA:99147 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Death in infancy, Cardiogenic shock, Dilated cardi... |
OMIM:619424 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Arrhythmia, Tr... |
OMIM:617877 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Right ventricular dilatation |
OMIM:618920 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aort... |
OMIM:212093 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia, Atrial septal defect |
OMIM:614868 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Situs inversus ... |
OMIM:620032 |
Lessel-Kreienkamp Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Abno... |
OMIM:619149 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Left ventricular hy... |
OMIM:615355 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... |
OMIM:208530 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia |
ORPHA:3347 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Hepatic bridging fibrosis, L... |
OMIM:613759 |
Riddle Syndrome |
|
Pulmonary fibrosis |
OMIM:611943 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... |
OMIM:614473 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... |
OMIM:612877 |
Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
Craniosynostosis 1 |
|
Aortic valve stenosis, Systolic heart murmur |
OMIM:123100 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
Mungan Syndrome |
|
Tricuspid regurgitation, Pulmonic stenosis, Perimembranous ventricular septal defect |
OMIM:611376 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Bronchie... |
ORPHA:980 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615279 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Ventricular septal defect, Asthma, H... |
OMIM:610978 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Hypertension, Epistaxis, Mitral regurgitation, Dyspnea, Hepatome... |
OMIM:230800 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... |
OMIM:616726 |
Alkaptonuria |
|
Aortic valve calcification, Aortic aneurysm, Mitral valve calcification, Coronary artery calcific... |
OMIM:203500 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Right ventricular dilatation, Hepatomegaly |
ORPHA:422 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Death in infancy, Jaundice, Epiphyseal stippling, Hepatomegaly |
OMIM:614876 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Crackles, Dyspnea, Cough, Pulm... |
OMIM:614742 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis |
OMIM:617175 |
Ciliary Dyskinesia, Primary, 17 |
|
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Situs inversus total... |
OMIM:614679 |
Familial Dilated Cardiomyopathy |
|
Coronary artery atherosclerosis, Left ventricular hypertrophy, Right ventricular dilatation |
ORPHA:217607 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... |
OMIM:615481 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Erysipelas, Restrictive ventilatory defect, Skeletal muscle atrophy, Pulmonary fibrosis, Joint co... |
OMIM:615704 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Respiratory distress |
OMIM:300580 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
Temple-Baraitser Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:611816 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Biventricular hypertrophy, Neonatal respiratory distress |
OMIM:250951 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... |
OMIM:179613 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Le... |
ORPHA:444013 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Premature graying o... |
ORPHA:363618 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
Alkaptonuria |
|
Atherosclerosis, Calcification of cartilage, Abnormal heart valve morphology, Coronary artery cal... |
ORPHA:56 |
Combined Immunodeficiency, X-Linked |
|
Recurrent bronchitis, Sinusitis, Otitis media, Pneumonia |
OMIM:312863 |
Aspergillosis |
|
Osteomyelitis, Bronchiectasis, Asthma, Hepatitis, Pleuritis, Abnormality on pulmonary function te... |
ORPHA:1163 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
Snijders Blok-Campeau Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect |
OMIM:618205 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Atrial septal defect, Dysplastic tricuspid valve... |
OMIM:612863 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Heart block, Abnormal vena cava morphology, Double outlet right... |
ORPHA:185 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Progeroid facial appearance, Pulmonic stenosis |
ORPHA:75496 |
Gaucher Disease Type 3 |
|
Splenomegaly, Anemia, Pericardial effusion, Abnormal heart valve morphology, Pancytopenia, Thromb... |
ORPHA:77261 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... |
ORPHA:3400 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... |
OMIM:616053 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis |
OMIM:618806 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
3C Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death... |
ORPHA:7 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pneumonia, W... |
ORPHA:95430 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Cyanosis, Hepatomegaly, Right atrial ... |
OMIM:306955 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Congenital Laryngeal Web |
|
Stridor, Respiratory distress, Abnormal cardiac septum morphology |
ORPHA:2374 |
Felty Syndrome |
|
Rhinitis, Arthritis, Pleuritis, Synovitis, Recurrent pharyngitis, Pericarditis, Recurrent pneumon... |
ORPHA:47612 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:615297 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Pleural effusion, Palpitations, Abnormal vena cava morphology, Hepatomegaly, Tricuspid regurgitat... |
ORPHA:1677 |
Tyshchenko Syndrome |
|
Pulmonic stenosis, Sleep apnea, Ventricular septal defect, Atrial septal defect |
OMIM:615102 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Abnormal cardiac septum morphology, Coarctat... |
OMIM:601612 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran... |
OMIM:616749 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Macular degenera... |
OMIM:164500 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Ciliary Dyskinesia, Primary, 25 |
|
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Chronic pulmonary obstructi... |
OMIM:615482 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Death in infancy,... |
OMIM:617478 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Idiopathic Achalasia |
|
Bronchitis, Cough, Wheezing, Recurrent aspiration pneumonia |
ORPHA:930 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Pulmonary artery atresia... |
OMIM:618164 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Hip contracture, Elbow flexion contracture, Myopathy, Skeletal muscle ... |
ORPHA:97244 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Exertional dyspnea, Reduced left ventricular ej... |
OMIM:608751 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Midline liver, Ventricular septal defect, Transposition of the gre... |
OMIM:613751 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Retinopathy, Optic atrophy, Parkinsonism, Rigidity, ... |
ORPHA:216873 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Foot joint contracture, Pulmonary fibrosis, Joint contracture of... |
ORPHA:220402 |
Ciliary Dyskinesia, Primary, 46 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... |
OMIM:619436 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pneumothorax, Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissect... |
ORPHA:91387 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Cyanosis, Inlet ventricular septa... |
OMIM:600309 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Death in infancy, Perimembranous ventricular septal defect, Hepatomegal... |
OMIM:608104 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Right ventricular hypertroph... |
OMIM:616028 |
Alagille Syndrome 2 |
|
Hypertension, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pu... |
OMIM:610205 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Sideroblastic anemia, Babinski sign, Hypochromic microcytic anemia, Intention... |
OMIM:301310 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... |
OMIM:108900 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Bronchiectasis, Recurrent sinopulmonary infections, Ulcerative colitis, Colitis,... |
OMIM:618394 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Death in infancy, Bicuspid aortic valve,... |
OMIM:618845 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Rheumatoid arthr... |
ORPHA:79128 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations |
ORPHA:309169 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
Immunodeficiency 104 |
|
Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Otitis media, Hepatomegaly, Pn... |
OMIM:608971 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Geleophysic Dysplasia 2 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Mitral stenosis, Mitral valve prolaps... |
OMIM:614185 |
Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... |
OMIM:616481 |
Congenital Myopathy 8 |
|
Respiratory insufficiency, Cardiomegaly, Congestive heart failure, Reduced vital capacity |
OMIM:618654 |
Antisynthetase Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morph... |
ORPHA:81 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation |
ORPHA:369847 |
Legius Syndrome |
|
Supravalvar pulmonary stenosis |
OMIM:611431 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Bacterial endocarditis, Telangie... |
ORPHA:2038 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
Ciliary Dyskinesia, Primary, 35 |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... |
OMIM:617092 |
Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... |
ORPHA:3097 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, Retinopathy, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F... |
ORPHA:251380 |
Peripartum Cardiomyopathy |
|
Anemia, Abnormal atrioventricular valve morphology, Left ventricular hypertrophy, Dilated cardiom... |
ORPHA:563 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615500 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... |
ORPHA:99105 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... |
OMIM:616037 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy, Respiratory insufficiency due to m... |
OMIM:617184 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Ischemic stroke, Hypertension, ... |
OMIM:208050 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... |
ORPHA:2306 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Respiratory distress, Death in infancy |
OMIM:616974 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:615996 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Recurrent sinusitis, Atr... |
OMIM:609029 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
Polymyositis |
|
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Abnorm... |
ORPHA:732 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Facial telangiectasia, Pulmonic stenosis |
OMIM:620141 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... |
OMIM:614017 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect |
OMIM:617660 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatic steatosis, Right ventricular dilatation, Hepatomegaly |
ORPHA:369840 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... |
OMIM:600987 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, ... |
ORPHA:2257 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Chronic pulmonary obstruc... |
OMIM:618986 |
Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... |
OMIM:618063 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Exertional dyspnea, Concentric hypertrophic cardiomyopathy, Reduced le... |
OMIM:613243 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ... |
ORPHA:555877 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis |
OMIM:618449 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Stillbirth, Deat... |
OMIM:619751 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... |
OMIM:115195 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... |
OMIM:613424 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Left-to-right shunt, Atrial s... |
ORPHA:363444 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Hemolytic anemia, Ataxia, Spastic tetraparesis, Neutropenia, Intention tr... |
OMIM:266130 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Respiratory insufficiency, Perimembranous ventricular septal defect, Death in infancy, Secundum a... |
OMIM:608779 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... |
ORPHA:2248 |
Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Atrial septal defect, Hepatosplenomegaly, Situs inversus totalis, Aorti... |
OMIM:267010 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Sleep apnea, Atrial septal defect |
ORPHA:459061 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough, H... |
ORPHA:50251 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Chromosome 18Q Deletion Syndrome |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... |
OMIM:601808 |
Monosomy 18Q |
|
Patent ductus arteriosus, Absence of the pulmonary valve, Left-to-right shunt, Secundum atrial se... |
ORPHA:1600 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Bronchiectasis, Recurrent sinusitis, Atrial septal defect, Recurrent pneumonia, Pulmonic stenosis |
OMIM:618282 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... |
OMIM:601005 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Mitral stenosis, Mi... |
OMIM:616564 |
Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Skin rash, Arthritis... |
ORPHA:809 |
Immunodeficiency 13 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent upper... |
OMIM:615518 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Hemiballismus, Frequent falls |
ORPHA:494526 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypert... |
OMIM:619698 |
Niemann-Pick Disease, Type B |
|
Abnormal pulmonary interstitial morphology, Decreased DLCO, Dyspnea, Hepatomegaly, Recurrent resp... |
OMIM:607616 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cyanosis, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biven... |
OMIM:261740 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, He... |
ORPHA:99125 |
Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Ventricular septal defect, Bicuspid aortic valve, Hypertension, ... |
OMIM:100300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Death in infancy, Hepatomegaly, Cardiomegaly, Death in childhood |
OMIM:619064 |
Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation, Pulmonic stenosis |
OMIM:614325 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Bicuspid aortic valve, Hypertension, A... |
OMIM:613355 |
Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Death in childhood, Ventricular septal defect, Cardiac ... |
OMIM:608978 |
Immunodeficiency 48 |
|
Pneumonia, Hepatomegaly, Eczematoid dermatitis, Recurrent respiratory infections, Splenomegaly |
OMIM:269840 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Co... |
ORPHA:96170 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Respiratory insufficiency, Truncus arteriosus, Ventricular septal defec... |
OMIM:601186 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
Ciliary Dyskinesia, Primary, 12 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... |
OMIM:612650 |
Sneddon Syndrome |
|
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Cutis marmorata, Lived... |
OMIM:182410 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Irregular septal thickening on pul... |
ORPHA:90060 |
Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:613808 |
Gaucher Disease |
|
Abnormal pericardium morphology, Splenomegaly, Cirrhosis, Anemia, Cherry red spot of the macula, ... |
ORPHA:355 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Splenomegaly, Ventricular septal defec... |
OMIM:608149 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Death in infancy, Apnea, Hypertrophic cardiomyopathy, Respiratory fail... |
OMIM:616277 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Arrhythmia |
OMIM:611553 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Pulmonary fibrosis |
OMIM:614743 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pulmonic stenosis, Heart murmur |
OMIM:617600 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Hepatic fibrosis, Ventricular septal defect |
ORPHA:306550 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... |
ORPHA:99657 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyo... |
ORPHA:2326 |
Cardiofaciocutaneous Syndrome 4 |
|
Abnormal aortic valve morphology, Pulmonic stenosis, Ventricular septal hypertrophy |
OMIM:615280 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:613193 |
Immune-Mediated Necrotizing Myopathy |
|
Abnormal pulmonary interstitial morphology, Skin rash, EMG: myopathic abnormalities, Myositis, Mu... |
ORPHA:206569 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Abnormal cardiac septum morphology, Coarctation of aorta, Aortic regurgitatio... |
ORPHA:96147 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Carotid artery calcification, Abdominal aortic calcification, Congestive heart failure, Dilated c... |
OMIM:208000 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal... |
OMIM:614954 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pericardial effusio... |
ORPHA:199241 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis, Emphysema |
OMIM:618913 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 11 |
|
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... |
OMIM:614935 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Vascular dilatation, Abnormal mitral valve morphology, Bundle bran... |
ORPHA:500 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Respiratory insufficiency, Dyspnea, Global systolic dysfunction, Cardiomyopathy |
OMIM:606842 |
Perching Syndrome |
|
Cyanosis, Respiratory distress |
OMIM:617055 |
Leigh Syndrome With Cardiomyopathy |
|
Dilated cardiomyopathy, Respiratory distress, Congestive heart failure, Apnea, Hypertrophic cardi... |
ORPHA:70474 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Bacterial endocarditis, Hepatic fibrosis, Anemia, Calcification of the aorta, Pancy... |
ORPHA:2072 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Respiratory distress, Hepatomegaly, Respiratory insufficiency due to... |
OMIM:613561 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
Primary Ciliary Dyskinesia |
|
Bronchiectasis, Productive cough, Airway obstruction, Wheezing, Double outlet right ventricle, Pe... |
ORPHA:244 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Leukoencephalopathy With Ataxia |
|
Gait ataxia, Choroidal neovascularization, Limb ataxia, Retinoschisis, Action tremor, Chorioretin... |
OMIM:615651 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Choreoathetosis, Reticulocytosis, Ataxia, Tremor, Dystonia, Splenomegaly |
OMIM:612126 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Respirato... |
ORPHA:45452 |
Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Optic atrophy, Rigidity, Aplasia/Hypoplasia of the macula, Ataxia, Tremor, Hypertonia... |
ORPHA:33445 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia, Pneumonia, Atopic dermatitis |
OMIM:617638 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Eczema, Ulcerative colitis, Hepatosplenomegaly,... |
OMIM:618935 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Pericardial effusion, Respiratory distress, Chronic pulmonary obstr... |
ORPHA:411703 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Death in infancy, Apnea, Dyspnea, Respiratory failure,... |
OMIM:265120 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Respiratory insufficiency, Ventricular septal defect, Hypoplastic left ... |
OMIM:616276 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |