| Bronchopulmonary Dysplasia |
|
Exercise intolerance, Respiratory distress, Central apnea, Respiratory failure requiring assisted... |
ORPHA:70589 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
| Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Arthralgia, Decrease... |
ORPHA:79126 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... |
ORPHA:70588 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... |
ORPHA:70587 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Spinal muscular atrophy, Respiratory insufficiency, Proximal am... |
OMIM:253300 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... |
ORPHA:254361 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Hypersensitivity pneumonitis, Atelectasis,... |
ORPHA:2902 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Cough, Dyspnea, Upper limb muscle weakness, R... |
ORPHA:90117 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Tachypnea, Acute infectious pneumonia, Cough, Pulmonar... |
ORPHA:36238 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Bronchogenic Cyst |
|
Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleur... |
ORPHA:2357 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Chest tightness, Productive cough, Atele... |
ORPHA:3348 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Vertebral segmentation defect, Hypoplasti... |
OMIM:618845 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... |
ORPHA:50251 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Avian Influenza |
|
Fatigue, Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Ground-glass opacification... |
ORPHA:454836 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Fatigue, Abdominal pain, Congestive heart failure, Ragged-red muscle fibers, Respiratory failure |
OMIM:616794 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Exercise intolerance, Skeletal muscle atrophy, Respiratory distress, Chronic fatigue, Spinal musc... |
ORPHA:254875 |
| Cryptogenic Organizing Pneumonia |
|
Fatigue, Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacifica... |
ORPHA:1302 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Fatigue, Abdominal ... |
ORPHA:563 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary... |
OMIM:614096 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Pulmonary infiltrates, Hypoxemia, Diabetic ketoacidosis, R... |
ORPHA:70578 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... |
OMIM:300717 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Congenital Heart Block |
|
Fatigue, Exercise intolerance, Cyanosis, First degree atrioventricular block, Gallop rhythm, Crac... |
ORPHA:60041 |
| Myopathy And Diabetes Mellitus |
|
Exercise intolerance, Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contrac... |
ORPHA:2596 |
| C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Arthralgia, Vasculitis in the skin, Recurrent lower respiratory trac... |
OMIM:620321 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 verteb... |
OMIM:214300 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration p... |
OMIM:619477 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... |
OMIM:255160 |
| Tuberculosis |
|
Fatigue, Abnormal lung morphology, Cough |
ORPHA:3389 |
| Idiopathic Pulmonary Hemosiderosis |
|
Fatigue, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacificati... |
ORPHA:99931 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Myocardial infarction, Congestive heart failure, Insulin resistance, Hypert... |
OMIM:615703 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... |
OMIM:616081 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Polymyositis |
|
Fatigue, Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocard... |
ORPHA:732 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver... |
OMIM:113000 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Atelectasis, ... |
OMIM:300219 |
| Congenital Myopathy 14 |
|
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
| Congenital Myopathy 8 |
|
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Congestive heart failure, In... |
OMIM:618654 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
| Acute Lung Injury |
|
Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... |
ORPHA:178320 |
| Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Respiratory failure, Respiratory failure requiring assisted ventilation... |
ORPHA:132 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Ventricular septal defect, Elbow contracture, Multiple pterygi... |
OMIM:178110 |
| Scedosporiosis |
|
Pericarditis, Arthralgia/arthritis, Diabetes mellitus, Pneumonia, Bronchitis, Sinusitis, Bronchia... |
ORPHA:449280 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chronic pulmon... |
ORPHA:2414 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormality of the vertebral c... |
ORPHA:2345 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... |
OMIM:614399 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Flexion contracture, Coug... |
ORPHA:77260 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Chronic fatigue, Pulmonary capillary hemangiomatosis, Dyspnea, Centri... |
OMIM:234810 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Flexion contracture, Lower limb muscle weakness, Fatigue, Glycogen accumula... |
ORPHA:365 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ... |
OMIM:619751 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis, Camptodactyly of finger |
ORPHA:896 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... |
ORPHA:45452 |
| Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... |
ORPHA:60033 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl... |
OMIM:613255 |
| Babesiosis |
|
Fatigue, Myocardial infarction, Recurrent pharyngitis, Congestive heart failure, Respiratory insu... |
ORPHA:108 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Hypertrophic cardiomyopathy, Respiratory failure, Nocturnal hypoventil... |
OMIM:620326 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whee... |
OMIM:620233 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Fatigue, Exercise intolerance, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-... |
ORPHA:1349 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Reduced vital capacity, Cyanosis, Orthopnea, Facial palsy, Triceps weakn... |
ORPHA:98913 |
| Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... |
OMIM:615348 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,... |
ORPHA:1303 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... |
OMIM:616867 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
| Maternally-Inherited Diabetes And Deafness |
|
Congestive heart failure, Hypertension, Myalgia, Type II diabetes mellitus, Arrhythmia, Hypertrop... |
ORPHA:225 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Abdominal pain, Heart block, Congestive heart failure, Dyspnea, Syncope, Arr... |
ORPHA:871 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Death in infancy, Congestive heart failure, Flexion contracture, Respira... |
ORPHA:157973 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy |
OMIM:613869 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure... |
ORPHA:206569 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Fatigue, Respiratory... |
ORPHA:60025 |
| Cardiomyopathy, Dilated, 1Ff |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613286 |
| Sandhoff Disease |
|
Recurrent respiratory infections, Congestive heart failure |
ORPHA:796 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Hypoglycemia, Congestive heart failure, Bradycardia, Left ventricular hypertrophy |
OMIM:619048 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... |
OMIM:540000 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Arthralgia, Cough, Acrocyanosis, Fatigue, Abdominal p... |
ORPHA:183 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardi... |
ORPHA:91130 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Perching Syndrome |
|
Respiratory distress, Joint contracture, Cyanosis, Camptodactyly |
OMIM:617055 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... |
OMIM:612877 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Abdominal pain, Centrally nucleated skeletal muscle fibers, Limb-girdle mus... |
ORPHA:86812 |
| Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Sudden death, Abnormal le... |
OMIM:605362 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... |
OMIM:620011 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fatigue, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Red... |
ORPHA:542323 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Death in infancy, Cardiomyopathy |
OMIM:212080 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... |
ORPHA:258 |
| Endocardial Fibroelastosis |
|
Congestive heart failure, Hypoglycemia, Restrictive cardiomyopathy |
ORPHA:2022 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture... |
ORPHA:2590 |
| Complete Atrioventricular Septal Defect |
|
Crackles, Tachypnea, Atrioventricular block, Postexertional symptom exacerbation, Abnormal EKG, I... |
ORPHA:1329 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Nipah Virus Disease |
|
Fatigue, Respiratory distress, Recurrent pharyngitis, Myalgia, Hypotension, Cough |
ORPHA:99825 |
| Loeffler Endocarditis |
|
Fatigue, Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive h... |
ORPHA:75566 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... |
ORPHA:238329 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Mitral valve calcification, Kyphosis, Aortic valve ... |
OMIM:203500 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h... |
OMIM:616733 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... |
OMIM:115197 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
| Proximal Spinal Muscular Atrophy |
|
Fatigue, Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hyp... |
ORPHA:70 |
| Chronic Beryllium Disease |
|
Fatigue, Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumon... |
ORPHA:133 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Limb muscle weakness, Respiratory failure |
OMIM:600561 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Facial diplegia, Respi... |
OMIM:611890 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Skeletal muscle atrophy, Internally nucleated skeletal muscle f... |
ORPHA:98905 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cyanosis, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricul... |
ORPHA:860 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... |
OMIM:300580 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... |
ORPHA:308552 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
| Tularemia |
|
Respiratory distress, Tachycardia, Abnormal pulmonary thoracic imaging finding, Pneumonia, Cough,... |
ORPHA:3392 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Dextrocardia, Short neck... |
OMIM:613686 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Abdominal pain, Congestive heart failure, Telangiectasia, Cardiomyopathy, Gluc... |
OMIM:235200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Skeletal muscle atrophy, Neonatal respiratory distress, Hypoglycemia, Respirato... |
OMIM:245400 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Myopathy, Ketotic hypoglycemia |
ORPHA:26792 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Lymphangioleiomyomatosis |
|
Fatigue, Recurrent respiratory infections, Gastrointestinal hemorrhage, Abdominal pain, Atelectas... |
ORPHA:538 |
| Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... |
OMIM:612387 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Resp... |
ORPHA:171433 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Reduced forced vital capacity, Achilles ... |
OMIM:620249 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Ventricular septal defect, Short neck, Hemivertebrae, Hip disloca... |
OMIM:615583 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
| High Altitude Pulmonary Edema |
|
Exercise intolerance, Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, ... |
ORPHA:330012 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616277 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... |
OMIM:244400 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... |
ORPHA:2140 |
| Acquired Methemoglobinemia |
|
Fatigue, Respiratory distress, Tachycardia, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Syncope... |
ORPHA:464453 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, Abnormal heart morphology |
ORPHA:1445 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Recurrent h... |
OMIM:212140 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Atelectasis, Re... |
ORPHA:333 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Prolonged QRS complex, Apnea, Left axis deviation, Congestive hea... |
OMIM:261740 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hypertrophic cardiomyopathy, Hypoglycemia, Respiratory failure |
OMIM:619386 |
| Absence Of The Pulmonary Artery |
|
Abnormal pulmonary thoracic imaging finding, Nonproductive cough, Abnormal EKG, Bronchiectasis, H... |
ORPHA:980 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, A... |
OMIM:616414 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... |
ORPHA:324604 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... |
OMIM:619611 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality... |
OMIM:620278 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Respiratory insufficiency due to mu... |
OMIM:310200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension, Myopathy, Respiratory f... |
ORPHA:363400 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomy... |
ORPHA:352447 |
| Isolated Right Ventricular Hypoplasia |
|
Fatigue, Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricul... |
ORPHA:439 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Congestive hear... |
ORPHA:3092 |
| Zygomycosis |
|
Sinusitis, Acute infectious pneumonia, Air crescent sign, Cough, Fatigue, Abdominal pain, Atelect... |
ORPHA:73263 |
| Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... |
ORPHA:98909 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, S... |
OMIM:607155 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Abnormal pulmo... |
ORPHA:330001 |
| Cirrhotic Cardiomyopathy |
|
Exercise intolerance, Prolonged QT interval, Elevated jugular venous pressure, Left ventricular d... |
ORPHA:57777 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Neo... |
ORPHA:142 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
| Lujo Hemorrhagic Fever |
|
Rigors, Shock, Respiratory distress, Crackles, Atelectasis, Myocarditis, Nonproductive cough, Sub... |
ORPHA:319213 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Congenital Gerbode Defect |
|
Fatigue, Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, ... |
ORPHA:99095 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Exercise intolerance, Rigors, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, ... |
ORPHA:746 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Pulmonary inf... |
ORPHA:220393 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Spinal muscular atrophy, Congestive heart failure, Flexion contrac... |
OMIM:616866 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
| Hyperekplexia 4 |
|
Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly |
OMIM:618011 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Exercise intolerance, Respiratory distress, Respiratory insufficiency due to muscle weakness, Rag... |
OMIM:613561 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Shoulder pain, Congestive heart failure, Abnormal tendon morphology,... |
ORPHA:85446 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
| Cardiomyopathy, Dilated, 2A |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:611880 |
| Hyperkalemic Periodic Paralysis |
|
Death in infancy, Death in early adulthood, Skeletal muscle atrophy, Bowel incontinence, Congesti... |
ORPHA:682 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Abdominal pain, Respiratory failur... |
OMIM:620166 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Conges... |
ORPHA:79083 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in childhood, Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:615440 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopathy, Cervical C2/C3 vertebra... |
OMIM:616549 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Rhabdomyolysis, Respiratory insufficiency, Myop... |
OMIM:609015 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hypoglycemia |
OMIM:614741 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Rhabdomyolysis, Intracranial he... |
ORPHA:449285 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... |
ORPHA:93315 |
| Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Episodic abdominal pain, Hypertension, Interstitial p... |
ORPHA:330021 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy |
OMIM:619099 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture |
OMIM:313420 |
| Lymphoid Interstitial Pneumonia |
|
Fatigue, Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infect... |
ORPHA:79128 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Urinary incontinence, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphr... |
OMIM:604320 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Hypoglycemia, Congestive heart f... |
ORPHA:26791 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Increased variability in muscle fiber diameter, Respiratory failure, Death in c... |
OMIM:619334 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171430 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis |
ORPHA:377 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... |
ORPHA:1143 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Diabetes mellitus, Cardiac arrest |
ORPHA:49827 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Respiratory distress, Pneumo... |
ORPHA:26793 |
| Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Sudden death, Asymmetric septal hypertrophy |
OMIM:192600 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... |
ORPHA:90060 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Diabetes mellitus, Congestive heart failure, Insulin resistance, Abnormalit... |
ORPHA:2348 |
| Histiocytoid Cardiomyopathy |
|
Exercise intolerance, Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrill... |
ORPHA:137675 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Arthralgia, Emphysema, ... |
ORPHA:324 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Congestive heart failure, Aplas... |
ORPHA:3309 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Urina... |
OMIM:606071 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Cough |
ORPHA:2314 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue, Recurrent respiratory infections, Respiratory failure, Intracranial hemorrhage |
ORPHA:3226 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Recurrent respiratory infections, Skeletal muscle atrophy, Respiratory distr... |
OMIM:211530 |
| Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Pulmonary hemorrhage |
ORPHA:238459 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Hypotension, Increased resting energy expenditure, Postura... |
ORPHA:369873 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Cyanosis, Blood press... |
ORPHA:2299 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Fatigue, Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulati... |
ORPHA:747 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
| Frontometaphyseal Dysplasia 1 |
|
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... |
OMIM:305620 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Respiratory distress, Respiratory insufficiency due to muscle weakness, Gly... |
OMIM:220110 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Morgagni diaphragmatic hernia, Atelectasis... |
OMIM:613177 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hip pain, Congestive heart failure, Fatty replacement of skeletal muscle, Cardiomyopathy, General... |
ORPHA:52430 |
| Barth Syndrome |
|
Fatigue, Exercise intolerance, Increased left ventricular end-diastolic volume, Tricuspid regurgi... |
OMIM:302060 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... |
OMIM:606763 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Respiratory insufficie... |
ORPHA:90308 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Facial palsy, Flank pai... |
ORPHA:31826 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... |
ORPHA:1145 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Exercise intolerance, Death in infancy, Hypoglycemia, Congestive heart failure, Dilated cardiomyo... |
OMIM:611126 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy |
OMIM:618234 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ... |
ORPHA:915 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Congestive heart failure, Flexion contracture, Respira... |
ORPHA:1194 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary hypoplasia, Pulmonary ins... |
OMIM:602088 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Abdominal pain |
ORPHA:890 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Respiratory distress |
OMIM:616974 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, F... |
ORPHA:2020 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Abnormal hemidiaphra... |
ORPHA:185 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Amyotrophic Lateral Sclerosis |
|
Fatigue, Skeletal muscle atrophy, Dyspnea, Abnormal respiratory system physiology, Respiratory fa... |
ORPHA:803 |
| Malignant Atrophic Papulosis |
|
Fatigue, Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Abdomina... |
ORPHA:679 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture |
OMIM:617977 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Respiratory failure |
ORPHA:70472 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
| Danon Disease |
|
Exercise intolerance, Wolff-Parkinson-White syndrome, Myocardial necrosis, Congestive heart failu... |
OMIM:300257 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Abdominal pain, Congestive heart failure, Dyspnea, Chest pain, Pleural empyema, Cou... |
ORPHA:67 |
| Non-Functioning Paraganglioma |
|
Fatigue, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Chest pain, Palp... |
ORPHA:94080 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Congestive heart failure, Insulin resistance, Hyperinsul... |
ORPHA:528 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... |
ORPHA:98915 |
| Neuromyelitis Optica Spectrum Disorder |
|
Ocular pain, Recurrent singultus, Respiratory failure |
ORPHA:71211 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Fatigue, Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90037 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Atrial septal defect, Ventricular septal defect, Cervical kyphosi... |
OMIM:150250 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tricuspid regurgitation, Tachypnea,... |
ORPHA:555874 |
| Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s... |
ORPHA:1724 |
| Poliomyelitis |
|
Fatigue, Exercise intolerance, Skeletal muscle atrophy, Respiratory failure requiring assisted ve... |
ORPHA:2912 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Flexion contracture, Respiratory insufficiency, Facial diplegia, Respirat... |
OMIM:618186 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Congenital contracture, Neonatal respiratory distress |
OMIM:615042 |
| Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Flank pain, Tachypnea, Cough,... |
ORPHA:90068 |
| Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Miscarriage, Myocardial infarction, Congesti... |
ORPHA:902 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Scleros... |
OMIM:130720 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
| Malaria |
|
Respiratory distress, Myalgia |
ORPHA:673 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy, Respiratory failure, Pneumothorax, Neonatal hypoglycemia |
ORPHA:445038 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Fatigue, Decreased muscle mass, Diabetes mellitus, Portal hypertension, Abdominal pain, Congestiv... |
ORPHA:465508 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
| Waldenström Macroglobulinemia |
|
Fatigue, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal he... |
ORPHA:33226 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Pulmonary insuff... |
OMIM:245650 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... |
OMIM:618000 |
| Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary... |
ORPHA:2254 |
| Nocardiosis |
|
Fatigue, Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Oc... |
ORPHA:31204 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Kyphosis, Hip dislocation, Joint hyperflexibility, Verte... |
ORPHA:96169 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Atelecta... |
ORPHA:536467 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation |
OMIM:619483 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
| Erdheim-Chester Disease |
|
Fatigue, Abdominal pain, Congestive heart failure, Dyspnea, Bone pain, Abnormal pulmonary interst... |
ORPHA:35687 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... |
ORPHA:275766 |
| Alstrom Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Insulin-resistant diabetes mellitus, Dilated card... |
OMIM:203800 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Intracranial hemorrhage, Cough, Chills, Internal hemorrhage, Fat... |
ORPHA:340 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Chest pain, Exertional dyspnea |
ORPHA:615 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:272460 |
| Relapsing Polychondritis |
|
Pericarditis, Atelectasis, Myocarditis, Dyspnea, Large vessel vasculitis, Arthralgia, Cough, Gang... |
ORPHA:728 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
| Arterial Tortuosity Syndrome |
|
Fatigue, Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction,... |
ORPHA:3342 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dil... |
ORPHA:367 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Scorpion Envenomation |
|
Bundle branch block, Tachypnea, Prominent U wave, Chills, Hyperglycemia, Abdominal pain, ST segme... |
ORPHA:466677 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capi... |
ORPHA:199241 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Death in infancy, Neonatal respiratory distress, Hypoglycemia, Apnea, Di... |
OMIM:608836 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| American Trypanosomiasis |
|
Abdominal pain, Myocarditis, Congestive heart failure, Dyspnea, Cardiomyopathy, Myalgia, Cough, A... |
ORPHA:3386 |
| Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:269860 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Fatigue, Bundle branch block, Exercise intolerance, Left-to-right shunt, Abnormally loud pulmonic... |
ORPHA:99104 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Fatigue, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Respiratory insuffi... |
ORPHA:1880 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Diabetes mellitus, Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertensio... |
OMIM:613845 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Cardiomyopathy, Myopathy, Stillbirth, Respiratory failure, Death in childhood, ... |
OMIM:614922 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co... |
OMIM:617303 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Congestive heart failure, Recurrent pneumonia, Flexion contracture, Neonata... |
OMIM:616271 |
| Mulibrey Nanism |
|
Congestive heart failure, Recurrent lower respiratory tract infections |
OMIM:253250 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Bicuspid aortic valve, Ventricular sept... |
OMIM:610443 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypoglycemia, Pulmonary hypoplasia, Glycosuria, Neonatal death |
OMIM:231680 |
| Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia |
ORPHA:324588 |
| Systemic Capillary Leak Syndrome |
|
Fatigue, Pericarditis, Abdominal pain, Cough, Myocarditis, Rhinorrhea, Cardiorespiratory arrest, ... |
ORPHA:188 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Fatigue, Tachycardia, Congestive heart failure, Arthralgia, Exertional dyspnea |
ORPHA:90033 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Urinary incontinence, Bowel incontinence, Congestive heart f... |
OMIM:616482 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Left-to-right shunt, Cyanosis, Congestive heart failure, Left v... |
ORPHA:99050 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Axial muscle stiffness |
ORPHA:240085 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Cardiac arrest, Myopathy, Increased variability in muscle... |
OMIM:604377 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Fatigue, Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, In... |
ORPHA:70591 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Abdominal pain, Intraventricular hemorrhage, ... |
ORPHA:420741 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Facial palsy, Pneumonia, Hypercapnia, Respira... |
ORPHA:79138 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Hypoglycemia, Episodic tachypnea, Intermittent hyperventilatio... |
ORPHA:348 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
| Simple Cryoglobulinemia |
|
Fatigue, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Abdominal pain, Raynau... |
ORPHA:91139 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Hemochromatosis, Type 2A |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:602390 |
| Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
| Spinal Arteriovenous Metameric Syndrome |
|
Fatigue, Congestive heart failure, Bone pain, Arthralgia, Gangrene |
ORPHA:53721 |
| Listeriosis |
|
Back pain, Fatigue, Pericarditis, Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, C... |
ORPHA:533 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, D... |
ORPHA:99901 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Diabetes mellitus, Angina pectoris, Dyspnea, Hyperlipidemia, Increased muscle lipid content, Abno... |
ORPHA:565612 |
| Fanconi Renotubular Syndrome 5 |
|
Hypertension, Pulmonary fibrosis, Glycosuria, Decreased DLCO, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... |
OMIM:615512 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Diabetes mellitus, Abnormal atrioventricular conduction, Supraventricular a... |
ORPHA:280365 |
| Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Decreased pyruvate carboxylase activit... |
OMIM:229300 |
| Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Death in childhood |
OMIM:269920 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt... |
ORPHA:3260 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Dyspnea, Bronchiectasis, Mitral regurgitation, Em... |
OMIM:123700 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Fatigue, Torticollis, Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Tachycardia, Myositis, Sinusitis, Pneumonia, Abdominal pain, Respira... |
ORPHA:36234 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure, Flexion contracture, Camptodactyly of finger |
ORPHA:261519 |
| Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
| Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
| Fabry Disease |
|
Transient ischemic attack, Angina pectoris, Myocardial infarction, Abdominal pain, Congestive hea... |
OMIM:301500 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:184260 |
| Craniofaciofrontodigital Syndrome |
|
Exercise intolerance, Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory dist... |
ORPHA:363705 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, P... |
ORPHA:2326 |
| Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... |
ORPHA:3027 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Death in infancy, Skeletal muscle atrophy, Cyanosis, Hypoglycemia, Apnea, R... |
OMIM:252010 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
| Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Respiratory failure, Abnormality of masticatory muscle |
ORPHA:98755 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Congestive heart failure, In... |
OMIM:617253 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
| Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Apnea, Congestive heart failure, Abnormal tendon mor... |
ORPHA:579 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Knee flexion contracture, Telangiectasia, Muscul... |
OMIM:608799 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
| Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia |
ORPHA:1055 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Camptodactyly of finger, Congestive heart failure, Aplasia/Hypo... |
ORPHA:354 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... |
OMIM:614980 |
| Inhalational Anthrax |
|
Fatigue, Respiratory distress, Dyspnea, Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Fatigue, Cerebral ischemia, Respiratory distress |
ORPHA:927 |
| Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure |
ORPHA:79327 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
| Hemochromatosis, Type 2B |
|
Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v... |
OMIM:171480 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg... |
ORPHA:363618 |
| Pulmonary Hypertension, Primary, 5 |
|
Fatigue, Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arter... |
OMIM:265400 |
| Mucopolysaccharidosis, Type Ii |
|
Congestive heart failure, Asthma, Recurrent pneumonia, Flexion contracture, Macroglossia, Tracheo... |
OMIM:309900 |
| Q Fever |
|
Fatigue, Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Night sweats, Vasculitis, Ab... |
ORPHA:781 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Dilated cardiomyopathy, Arthrogryposis multiplex co... |
OMIM:607598 |
| Metatropic Dysplasia |
|
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... |
OMIM:156530 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Congestive heart failure, Decreased muscle mass, Facial hypotonia |
ORPHA:500533 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Flexion cont... |
OMIM:619383 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Death in infancy, Hypoglycemia, Congestive heart failure, Neonatal asphy... |
OMIM:608779 |
| Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi... |
ORPHA:97214 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Abnormal heart valve morphology, Tarsal synostosis, Camptodactyly... |
ORPHA:90652 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Abnormal cardiac se... |
ORPHA:3320 |
| Granulomatosis With Polyangiitis |
|
Fatigue, Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrha... |
OMIM:608710 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Urinary incontinence... |
ORPHA:496641 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Distal amyotrophy, Flexion contracture, Respiratory failure |
OMIM:616505 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
| Bloom Syndrome |
|
Diabetes mellitus, Pneumonia, Bronchitis, Respiratory tract infection, Insulin resistance, Chroni... |
ORPHA:125 |
| Tetanus |
|
Rigors, Respiratory distress, Tachycardia, Bowel incontinence, Abdominal pain, Tachypnea, Hyperte... |
ORPHA:3299 |
| Boutonneuse Fever |
|
Abdominal pain, Vasculitis, Respiratory failure, Arthralgia, Myalgia |
ORPHA:83313 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short neck, Fused cervical vertebrae, Atrial septal defect, Patent for... |
OMIM:609053 |
| Japanese Encephalitis |
|
Fatigue, Rigors, Skeletal muscle atrophy, Respiratory distress, Irregular respiration, Facial pal... |
ORPHA:79139 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal musc... |
ORPHA:98908 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Maternal diabetes, ... |
ORPHA:1199 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Exercise intolerance, Hypoglycemia, Portal hypertension, Tachypnea, Abnormal pulmonary interstiti... |
OMIM:613658 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... |
ORPHA:505248 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Bradycardia, Neonatal death, Respiratory ... |
OMIM:617248 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... |
OMIM:164310 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow flexion contracture, ... |
ORPHA:1900 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage, Hypoglycemia |
OMIM:251000 |
| Isolated Atp Synthase Deficiency |
|
Exercise intolerance, Respiratory distress, Dilated cardiomyopathy, Arrhythmia, Hypertrophic card... |
ORPHA:254913 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Diabetes mellitus, Decreased muscle glycogen content, ST segment elevation... |
ORPHA:263297 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia, Limb hypertonia |
OMIM:620306 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy, Abdominal pain |
ORPHA:79312 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Supraventricular tachycardia, Foot dorsiflexor we... |
ORPHA:273 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure, Hypoglycemia, Death in infancy |
OMIM:619355 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Pain |
ORPHA:97285 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral ... |
OMIM:109400 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
| Toxic Epidermal Necrolysis |
|
Fatigue, Recurrent respiratory infections, Gastrointestinal hemorrhage, Respiratory distress, Abn... |
ORPHA:537 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation |
OMIM:314400 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Hypoglycemia, Respiratory insufficiency |
OMIM:618329 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Fatigue, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Chest pain, Palp... |
ORPHA:276621 |
| Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Ventricular septal defect, Flat acetabular roof, Fused cervical vertebrae, ... |
OMIM:617159 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... |
OMIM:213980 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent upper respiratory tract infections, Hypoglycemia, Recurrent pneum... |
OMIM:607143 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Contractures of the large joints |
ORPHA:329178 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Juvenile Dermatomyositis |
|
Fatigue, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Telangi... |
ORPHA:93672 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Atrial septal defect, Cervica... |
OMIM:617190 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Mitral regurgitation, Pneumonia, Respiratory failure |
OMIM:617809 |
| Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
| Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Cardiac arrest, Congestive heart failure, Cardiomyopathy, Trach... |
OMIM:212720 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Short neck, Hemivertebrae, Transposition of the great arteries, Cervic... |
ORPHA:1780 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Abdominal pain, Congestive heart... |
ORPHA:727 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Muscular ventricular septal defect, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
| Goodpasture Syndrome |
|
Fatigue, Cyanosis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Crackles, Incre... |
OMIM:233450 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F... |
OMIM:160900 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion... |
OMIM:620369 |
| Dietary Iron Overload Disease |
|
Congestive heart failure, Increased circulating cortisol level, Diabetes mellitus |
ORPHA:139507 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Bowel incontinence, Atelectasis, Asthma, Chronic pulmonary obstructi... |
ORPHA:567 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Hypoglycemia, Congestive heart failure, Myo... |
ORPHA:506 |
| Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Diastasis recti, Congestive h... |
ORPHA:1686 |
| Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Maternal diabetes, Glucose intolerance, Arthralgia, P... |
ORPHA:358 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Abnormality of the musculature of the limbs, High-output congestive heart failure, Con... |
ORPHA:137667 |
| Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Neonatal asphyxia, Hypertension, Palpitations, Sin... |
ORPHA:525731 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure |
OMIM:300886 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Fatigue, Congestive heart failure, Cardiomyopathy, Myalgia, Limb muscle weakness |
OMIM:619259 |
| Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Respiratory insufficiency |
OMIM:166210 |
| Hughes-Stovin Syndrome |
|
Fatigue, Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Chest pain, Cough, Pu... |
ORPHA:228116 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Atelectasis, Respiratory insufficiency, Hyper... |
ORPHA:534 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Limb muscle weakness, Congestive heart failure |
OMIM:266500 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Congestive heart failure, Pneumothorax, Recurrent pneumoni... |
ORPHA:90349 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Fatigue, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Cyanosis, Respir... |
ORPHA:99125 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Limb muscle weakness... |
ORPHA:1546 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure, Camptodactyly |
OMIM:618804 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Abnormal capillary physiology, Upper airway obstruction |
ORPHA:100057 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:608022 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex conge... |
OMIM:608013 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ... |
OMIM:268310 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Hemivertebrae, Butterfly vertebrae, Vertebral hypopl... |
OMIM:206900 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Arthralgia, Pulmonary fibrosis |
OMIM:612852 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion |
ORPHA:292 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Skeletal muscle atrophy, Hypoglycemia, Ap... |
ORPHA:17 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... |
ORPHA:141127 |
| Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Aortic valve stenosis, Asthma, Congestive heart failure |
OMIM:601808 |
| Kawasaki Disease |
|
Fatigue, Pericarditis, Abdominal pain, Recurrent pharyngitis, Congestive heart failure, Vasculiti... |
ORPHA:2331 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
| Dk1-Cdg |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy |
ORPHA:91131 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Infantile Krabbe Disease |
|
Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscle weakness, Respirator... |
ORPHA:206436 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
| Dermatomyositis |
|
Fatigue, Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the... |
ORPHA:221 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Contractures of the large join... |
ORPHA:324410 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Primary Sclerosing Cholangitis |
|
Fatigue, Portal hypertension, Spider hemangioma, Abdominal pain, Congestive heart failure, Palmar... |
ORPHA:171 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Congestive heart failure, Hyperlipidemia, Hypertension, Ischemic strok... |
ORPHA:1830 |
| Myhre Syndrome |
|
Vertebral fusion, Ventricular septal defect, Short neck, Joint stiffness, Pericardial effusion, L... |
OMIM:139210 |
| Laubry-Pezzi Syndrome |
|
Fatigue, Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive hear... |
ORPHA:99094 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure |
ORPHA:3077 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Congestive heart failure, Hypoglycemia, Death in infancy |
OMIM:617156 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy |
OMIM:619272 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Arth... |
OMIM:617301 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardio... |
OMIM:610505 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Bicuspid aortic valve, Truncus arteriosus, Ventricula... |
ORPHA:508498 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Macroglossia, Bradycardia |
ORPHA:226313 |
| Coccidioidomycosis |
|
Fatigue, Respiratory distress, Pericarditis, Pneumonia, Cough, Vasculitis, Pulmonary infiltrates,... |
ORPHA:228123 |
| Moebius Syndrome |
|
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly,... |
OMIM:157900 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Left ventricular hypertrophy, Pulmonary edema |
ORPHA:79330 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Flexion contracture |
ORPHA:544503 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Dyspnea, Heart murmur, Chest pain, Cough |
ORPHA:1054 |
| Marfan Syndrome |
|
Skeletal muscle atrophy, Arthralgia/arthritis, Chronic fatigue, Spontaneous pneumothorax, Congest... |
ORPHA:558 |
| Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres... |
ORPHA:31824 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
| Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-output congestive heart ... |
ORPHA:423 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Fatigue, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Chest pain, Palp... |
ORPHA:29072 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Hypertriglyceridemia, Impaired glucose tolerance, Camptodactyly of finge... |
OMIM:256040 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Costello Syndrome |
|
Hypoglycemia, Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Sudden death, Respirat... |
OMIM:218040 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy |
ORPHA:37612 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Respiratory failure, Muscular dystrophy |
ORPHA:88618 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... |
OMIM:271225 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Hypertriglyceridemia, Telangiectasia of the skin, Diabetes mellitus, Con... |
ORPHA:79474 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Diastasis recti, Congestive heart failure, Recurrent pneumonia, Heart murmu... |
OMIM:252500 |
| Dominant Beta-Thalassemia |
|
Diabetes mellitus, Hypoplasia of the musculature, High-output congestive heart failure, Dyspnea, ... |
ORPHA:231226 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Ocular pain, Episodic respiratory distress, Stridor, Paroxysmal dyspnea,... |
ORPHA:141083 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx |
ORPHA:280210 |
| Aorto-Ventricular Tunnel |
|
Congestive heart failure, Heart murmur |
ORPHA:3400 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema |
OMIM:617300 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia |
OMIM:100800 |
| Kbg Syndrome |
|
Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis |
OMIM:148050 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Ventricular septal defect, Kyphoscoliosis, Hemivertebrae, Abnormal hear... |
ORPHA:97360 |
| Leptospirosis |
|
Respiratory distress, Pericarditis, First degree atrioventricular block, Abdominal pain, Cough, R... |
ORPHA:509 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Congestive heart failure, Recurrent upper respiratory tract infections, Bronchiectasis, Renovascu... |
ORPHA:391487 |
| Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Congenital hip dislocation, Ventricular septal defect, Camptodactyly of finger,... |
ORPHA:373 |
| Oromandibular Dystonia |
|
Respiratory distress, Pain, Torticollis |
ORPHA:93958 |
| Aceruloplasminemia |
|
Congestive heart failure, Torticollis, Diabetes mellitus |
ORPHA:48818 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
| Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter, Stridor |
OMIM:615595 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Hemato... |
OMIM:615895 |
| Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Hypovolemic shock, Respiratory failure, Cardiomyopathy, Campto... |
ORPHA:158687 |
| Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Delayed skeleta... |
OMIM:157800 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Arthralgia, Hyperaldoster... |
ORPHA:73224 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Sagittal craniosynostosis, Limited elbow movement, C... |
OMIM:101200 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
| Beta-Thalassemia Major |
|
Diabetes mellitus, Hypoplasia of the musculature, High-output congestive heart failure, Dyspnea, ... |
ORPHA:231214 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Gastrointestinal hemorrhage, Abdominal pain, Congestive heart failure, Hypertension, M... |
ORPHA:85450 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis |
ORPHA:163596 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure, Limb joint contracture, Limb hypertonia |
OMIM:620327 |
| Abetalipoproteinemia |
|
Congestive heart failure, Myopathy, Respiratory failure, Myalgia, Steatorrhea, Distal lower limb ... |
ORPHA:14 |
| Generalized Pustular Psoriasis |
|
Fatigue, Pain, Arthralgia, Congestive heart failure |
ORPHA:247353 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Asthma, Macroglossia, Aspiration pneumonia, Tracheomalacia, Pulmonary a... |
ORPHA:444077 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Myositis, Pneumonia, Interstitial pneumon... |
ORPHA:37042 |
| Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... |
ORPHA:233 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
| Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Fused cervical vertebrae, Shoulder dislocation, Scoliosis, Atrial sept... |
OMIM:607323 |
| Marfan Syndrome |
|
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Congestive heart failure, E... |
OMIM:154700 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure |
ORPHA:75564 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Tetralogy of Fallot |
ORPHA:959 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture, Macroglossia, Respiratory failure, Camptodactyly, Flexion c... |
ORPHA:254528 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy |
OMIM:616538 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Congestive heart failure, Pneumothorax, Right bundle branch block, Joint contracture, Camptodacty... |
OMIM:617403 |
| Hutchinson-Gilford Progeria Syndrome |
|
Congestive heart failure, Angina pectoris, Myocardial infarction |
OMIM:176670 |
| Vici Syndrome |
|
Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath... |
OMIM:242840 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Congestive heart failure, Dilated cardiomyo... |
OMIM:208000 |
| Gm1-Gangliosidosis, Type I |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Death in infancy |
OMIM:230500 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Fused cerv... |
OMIM:617137 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... |
OMIM:618733 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Recurrent upper ... |
ORPHA:508542 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Skeletal muscle atrophy, Rh... |
ORPHA:647 |
| Atelosteogenesis, Type I |
|
Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae... |
OMIM:108720 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Flexion contracture, Camptodactyly, Emphysema, Joint cont... |
OMIM:224690 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure |
ORPHA:137608 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:605676 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat... |
ORPHA:79404 |
| Autosomal Dominant Hypocalcemia |
|
Abdominal pain, Congestive heart failure, Hypotension, Arrhythmia, Abnormal pattern of respiration |
ORPHA:428 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
| Sepsis In Premature Infants |
|
Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respirato... |
ORPHA:90051 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... |
OMIM:225400 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth, Facial palsy, Limb hypertonia |
OMIM:259720 |
| Chops Syndrome |
|
Ventricular septal defect, Anomalous pulmonary venous return, Tracheomalacia, Cervical C2/C3 vert... |
OMIM:616368 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Tracheomalacia |
OMIM:156550 |
| Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Diabetes mellitus, Pulmonary arterial hypertension |
ORPHA:231222 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... |
ORPHA:805 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Hyperextensible hand joints, Camptodactyly |
OMIM:227330 |
| Digeorge Syndrome |
|
Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent sinusitis |
OMIM:188400 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Ventricular septal defect, Kyphosis, Delayed skeletal maturation... |
OMIM:194190 |
| Mgat2-Cdg |
|
Respiratory distress, Reflex asystolic syncope, Recurrent upper and lower respiratory tract infec... |
ORPHA:79329 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Bronchiectasis, Mitral regurgitation, Bronchiolit... |
ORPHA:90348 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis |
ORPHA:98805 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dyspnea, Ragged-red... |
ORPHA:255210 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:300968 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Respiratory distress |
OMIM:612863 |
| Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Respiratory insuf... |
ORPHA:646 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Aspiration, Cardio... |
ORPHA:2131 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Neonatal respiratory distress, Respiratory distress, Steatorrhea |
OMIM:260400 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Abdominal pain, Dyspnea, Hypotension, Inspiratory stridor |
ORPHA:100050 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patellar aplasia, Hip dislocation, Fused cervica... |
OMIM:274000 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Recu... |
ORPHA:731 |
| Incontinentia Pigmenti |
|
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage... |
ORPHA:464 |
| Aicardi Syndrome |
|
Block vertebrae, Hemivertebrae, Butterfly vertebrae, Scoliosis |
OMIM:304050 |
| Monosomy 18Q |
|
Congestive heart failure, Aortic valve stenosis, Left-to-right shunt, Mitral regurgitation |
ORPHA:1600 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypoglycemia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrha... |
ORPHA:79282 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Maternal diabetes, Pneumothorax, Respiratory failure, Pulmonary hypoplasia |
ORPHA:3404 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, Pulmonary artery steno... |
ORPHA:96334 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
| Plague |
|
Fatigue, Respiratory distress, Tachycardia, Abdominal pain, Hematemesis, Acute infectious pneumon... |
ORPHA:707 |
| Pachyonychia Congenita |
|
Respiratory distress, Ear pain, Lower limb pain |
ORPHA:2309 |
| Aicardi Syndrome |
|
Block vertebrae, Butterfly vertebrae, Scoliosis |
ORPHA:50 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Facial hypotonia, Intrinsic hand muscle a... |
OMIM:615273 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Dilated ... |
ORPHA:2556 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Arthralgia |
OMIM:183900 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Facial hypotonia |
ORPHA:438216 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Skeletal muscle atrophy, Recurrent hypoglycemia, Hypoglycemia |
OMIM:256810 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension |
ORPHA:1555 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
| Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Knee flexion c... |
OMIM:300868 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure |
ORPHA:2505 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
| Biotinidase Deficiency |
|
Respiratory distress, Limb muscle weakness, Apnea, Hyperventilation |
ORPHA:79241 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
| Tsh-Secreting Pituitary Adenoma |
|
Fatigue, Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypot... |
ORPHA:91347 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat... |
OMIM:601992 |
| Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections, Urinary incontinence |
ORPHA:404448 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:177907 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Ventricular septal defect, Short neck, Hip dislocation, Cervical C5/C6 vertebrae f... |
OMIM:613458 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Lower limb... |
OMIM:616268 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger |
ORPHA:2554 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Contracture of the distal interphalan... |
OMIM:114290 |
| Hallermann-Streiff Syndrome |
|
Tracheomalacia, Congestive heart failure, Respiratory insufficiency |
ORPHA:2108 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Respiratory failure, Death in childhood |
OMIM:618252 |
| Williams Syndrome |
|
Recurrent respiratory infections, Death in early adulthood, Sudden cardiac death, Abdominal pain,... |
ORPHA:904 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction |
OMIM:274150 |
| Geleophysic Dysplasia 1 |
|
Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve stenosis, Mit... |
OMIM:231050 |
| Weill-Marchesani Syndrome 2 |
|
Congestive heart failure, Elbow flexion contracture, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:608328 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Fatigue, Aortic regurgitation, Torticollis, Abdominal pain, Congestive heart failure, ... |
OMIM:619475 |
| African Trypanosomiasis |
|
Fatigue, Rigors, Pericarditis, Abnormal EKG, Miscarriage, Urinary incontinence, Myocarditis, Cong... |
ORPHA:3385 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension |
OMIM:123790 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Fatigue, Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Vul... |
ORPHA:95455 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Parkes Weber Syndrome |
|
Back pain, Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse, Chest p... |
ORPHA:90307 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Transient ischemic attack, Respiratory failure, Ischemic stroke, Emphysema |
ORPHA:500150 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
| Carney Complex, Type 1 |
|
Congestive heart failure |
OMIM:160980 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Recurrent respiratory infections, Limb joint contracture, Facial hypotonia, Decreased resting ene... |
ORPHA:404454 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Cleft vertebral arch, Fused cervi... |
ORPHA:83617 |
| Alström Syndrome |
|
Respiratory distress, Urinary incontinence, Portal hypertension, Insulin resistance, Dilated card... |
ORPHA:64 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Macroglossia, Pulmonary hypoplasia, Camptodactyly |
ORPHA:798 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis |
ORPHA:210122 |
| Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure |
OMIM:260450 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory tract infection, Recurrent upper respiratory tract infections, Flexion contracture, R... |
OMIM:180849 |
| Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Congestive heart failure, Aortic valve stenosis, Muscle fiber a... |
OMIM:182250 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
| Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Transient ischemic attack, Retinal hemorrhage, Myocardial calcifi... |
ORPHA:51608 |
| Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ... |
ORPHA:3206 |
| Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Small thenar eminence, Tricuspid stenosis |
OMIM:105650 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Abdominal pain |
ORPHA:2330 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Abnormal lung lobation, Respiratory distress |
ORPHA:508488 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Camptodactyly of finger |
OMIM:166250 |
| Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
| Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Stillbirth, Elbow contracture, Respiratory insufficiency |
OMIM:304120 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Ventricular septal defect, Hemivertebrae, Genu valgum, Scoliosis, Tetralogy of F... |
OMIM:164210 |
| Doors Syndrome |
|
Respiratory distress, Aspiration pneumonia |
ORPHA:79500 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections |
ORPHA:480880 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Insulin resista... |
ORPHA:79318 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion |
OMIM:211380 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Recurrent pneumonia, Respiratory distress |
ORPHA:99646 |
| Carney Complex |
|
Hypertension, Increased circulating cortisol level, Congestive heart failure |
ORPHA:1359 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
