| Bronchopulmonary Dysplasia |
|
Hyperoxemia, Tracheobronchomalacia, Pulmonary sequestration, Wheezing, Abnormal respiratory syste... |
ORPHA:70589 |
| Asbestos Intoxication |
|
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Hepatojugular reflux, Decreased DL... |
ORPHA:2302 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Bronchiectasis, Pleural effusion, Crackles, Decreased DLCO, Nonproductive cough, Subple... |
ORPHA:79126 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Pneumothorax, Pulmonary insufficiency, Aspiration pneumonia, Abn... |
ORPHA:70588 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cyanosis, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flarin... |
ORPHA:70587 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Syncope, Respiratory distress, Recurrent pneumonia, Upper airway obstr... |
ORPHA:60032 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Spinal muscular atrophy, Proximal amyotrophy, Pro... |
OMIM:253300 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Exertional dyspnea,... |
ORPHA:254361 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Parenchymal consolidation, Night sweats, Abnormal pulmonary thoracic imaging finding, Asthma, Hyp... |
ORPHA:2902 |
| Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Abnormal glucose homeostasis, Lower limb muscle weakness, Dyspnea, Cough, R... |
ORPHA:90117 |
| Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Pneumothorax, Pleural effusion, Shock, Pneumonia, Nonproductive cough, Gangrene, Shi... |
ORPHA:36238 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Parenchymal c... |
OMIM:610978 |
| Immunodeficiency 95 |
|
Respiratory distress, Ground-glass opacification, Respiratory failure, Recurrent viral upper resp... |
OMIM:619773 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Bronchiectasis, Respiratory insufficiency due to defective cili... |
OMIM:615067 |
| Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... |
OMIM:616726 |
| Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Chest pain, Exertional dyspnea, Productive cough, Recurren... |
ORPHA:3348 |
| Bronchogenic Cyst |
|
Chest pain, Abnormal pleura morphology, Pulmonary cyst, Back pain, Abnormal pulmonary thoracic im... |
ORPHA:2357 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Fatty replacement of s... |
ORPHA:266 |
| Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Myalgia, Diabetes mellitus, Dyspnea, Cough, Respiratory failure ... |
ORPHA:140896 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Double outlet right ventricle, Vertebral fusion, Vertebral segmentation defect, Bi... |
OMIM:618845 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... |
OMIM:265120 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... |
OMIM:618469 |
| Cryptogenic Organizing Pneumonia |
|
Cyanosis, Chest pain, Pneumothorax, Night sweats, Hypoxemia, Respiratory distress, Arthralgia, Cr... |
ORPHA:1302 |
| Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
| Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... |
ORPHA:922 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Abdominal pain, Congestive heart failure, Respiratory failure, Ragged-red muscle fibers, Fatigue |
OMIM:616794 |
| Avian Influenza |
|
Pulmonary infiltrates, Chest pain, Pneumothorax, Rhabdomyolysis, Productive cough, Abdominal pain... |
ORPHA:454836 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... |
OMIM:610913 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Spinal muscular atrophy, Ventilator dependence with inability to wean,... |
ORPHA:254875 |
| Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... |
OMIM:618414 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper res... |
OMIM:263000 |
| Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Elevated jugula... |
ORPHA:563 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death... |
OMIM:614096 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... |
ORPHA:99105 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Pulmonary infiltrates, Pulmonary edema, Diabetic ketoacidosis, Hypoxemia, Shock, Dys... |
ORPHA:70578 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Distal arthrogryposis, Decreased muscle mass, Respiratory failure, Art... |
OMIM:208081 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
| Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure, Death i... |
OMIM:300717 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
| Myopathy And Diabetes Mellitus |
|
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... |
ORPHA:2596 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Heart murmur, Diffuse alveolar hemorrha... |
ORPHA:99931 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Fused cervical vertebrae, Short neck, Scoliosis, Cervical C2/C3 verteb... |
OMIM:214300 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia, Weakness of facial musculature, Angulated muscle fibers, Scapular winging, ... |
OMIM:619477 |
| Tuberculosis |
|
Cough, Fatigue, Abnormal lung morphology |
ORPHA:3389 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Right bundle branch block, Right axis dev... |
OMIM:255160 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Spinal muscular atrophy, Skeletal muscle atrophy, Respiratory failure,... |
OMIM:616081 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Polymyositis |
|
Respiratory insufficiency, Abnormal atrioventricular conduction, Abnormal pulmonary interstitial ... |
ORPHA:732 |
| Pneumocystosis |
|
Respiratory insufficiency, Parenchymal consolidation, Exertional dyspnea, Combined cystic and gro... |
ORPHA:723 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Diffuse reticular or finely nodular infiltrations, Respiratory tract infection, Chest pain, Chron... |
ORPHA:79127 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Hypertension, Congestive heart failure, Myocardial... |
OMIM:615703 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Death in infancy, Respiratory distress, Myopathy, Neo... |
OMIM:300219 |
| Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Ve... |
OMIM:113000 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
| Acute Lung Injury |
|
Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distres... |
ORPHA:178320 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, A... |
ORPHA:99106 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Scoliosis, Hemivertebrae |
OMIM:122600 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Pulmonary infiltrates, Abnormal pleura morphology, Abdominal pain, Mya... |
ORPHA:724 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure, Myocardial infarction, Respiratory failure requiring assisted ventilation, C... |
ORPHA:132 |
| Congenital Myopathy 8 |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Muscle fiber atrophy, ... |
OMIM:618654 |
| Scedosporiosis |
|
Bronchitis, Apical pulmonary opacity, Pleural empyema, Pleuritis, Abnormal respiratory system phy... |
ORPHA:449280 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology |
ORPHA:1436 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Ventricular septal defect, Multiple ... |
OMIM:178110 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Left ventricular outflow tract obstruction, Flexion contracture, Hyper... |
ORPHA:365 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion... |
ORPHA:2345 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Congestive heart failure, Chroni... |
ORPHA:2414 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Respiratory insufficienc... |
OMIM:614399 |
| Muscular Dystrophy, Congenital, 1B |
|
Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... |
OMIM:604801 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Verheij Syndrome |
|
Vertebral fusion, Abnormal cardiac septum morphology, Hip dislocation, Short neck, Scoliosis, Hem... |
OMIM:615583 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Pulm... |
OMIM:234810 |
| Gaucher Disease Type 2 |
|
Flexion contracture, Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough... |
ORPHA:77260 |
| Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Tracheomalacia, Acrocyanosis, Atelectasis |
ORPHA:896 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge |
OMIM:309620 |
| Babesiosis |
|
Respiratory insufficiency, Recurrent pharyngitis, Congestive heart failure, Arthralgia, Myalgia, ... |
ORPHA:108 |
| Primary Ciliary Dyskinesia |
|
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... |
ORPHA:244 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure, Respiratory distress, S... |
OMIM:619751 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... |
ORPHA:45452 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Weakness of long finger extensor muscles, Exertional dyspnea, Abnormality of masticator... |
ORPHA:98913 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnormal l... |
ORPHA:99103 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... |
ORPHA:1303 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, Left ventricular outflow tra... |
OMIM:613255 |
| Nemaline Myopathy 8 |
|
Flexion contracture, Death in infancy, Nemaline bodies, Respiratory failure, Myofibrillar myopath... |
OMIM:615348 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Death in infancy, Muscular dystrophy, Apnea, Respiratory failure |
OMIM:613869 |
| Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure, Spinal ... |
OMIM:616867 |
| Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio... |
ORPHA:60025 |
| Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Platyspondyly |
OMIM:269630 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Abdominal pain, Syncope, Congestive heart failure, Heart block, Dyspnea, Arr... |
ORPHA:871 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Lower limb pain, Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myalgia, Hypertr... |
ORPHA:1349 |
| Immune-Mediated Necrotizing Myopathy |
|
Chest pain, Abnormal pulmonary interstitial morphology, Raynaud phenomenon, Congestive heart fail... |
ORPHA:206569 |
| Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Respiratory insufficiency, Flexion contracture, Death in infancy, Congestive heart failure, Myopa... |
ORPHA:157973 |
| Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Hypertension, Congestive heart failure, Myalgia, Hypertrophic cardiomy... |
ORPHA:225 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Asthenia, Pleu... |
ORPHA:411703 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
| Sandhoff Disease |
|
Recurrent respiratory infections, Congestive heart failure |
ORPHA:796 |
| Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Death in middle ag... |
OMIM:613286 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Myositis, Hypertrophic cardiomyopathy, Abnormal pleura morphology, Tra... |
ORPHA:183 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Congestive heart failure, Apnea, Hypoglycemia, Bradycardia |
OMIM:619048 |
| Perching Syndrome |
|
Cyanosis, Joint contracture, Camptodactyly, Respiratory distress |
OMIM:617055 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... |
OMIM:540000 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive hear... |
ORPHA:91130 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Systolic heart murmur, Crackles, Abnormal P wave, Wheezing, Third heart sound, Abnormal... |
ORPHA:1329 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Parado... |
OMIM:620011 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Pulmonary edema, Hypoxemia, Heart block,... |
ORPHA:542323 |
| Nipah Virus Disease |
|
Hypotension, Recurrent pharyngitis, Respiratory distress, Myalgia, Cough, Fatigue |
ORPHA:99825 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Death in infancy, Cardiomyopathy |
OMIM:212080 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pulmonary arterial hypertension, Cardiomyopathy, Respiratory insufficiency, Flexion contracture, ... |
ORPHA:258 |
| Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Sudden death, Abnormal le... |
OMIM:605362 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Flexion contracture, Recurrent aspiration pneumonia, Lower limb muscle weakness, Respiratory fail... |
ORPHA:2590 |
| Endocardial Fibroelastosis |
|
Hypoglycemia, Restrictive cardiomyopathy, Congestive heart failure |
ORPHA:2022 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Recurrent respiratory infections, Type 1 fibers relat... |
ORPHA:596 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Abnormal... |
ORPHA:206546 |
| Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Respiratory failure, Multiple joint contractures, ... |
ORPHA:70 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Exertional dyspnea, Reduced left ventricular ej... |
OMIM:608751 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Pulmonary hypoplasia, Hypertension, Respirator... |
OMIM:616733 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
| Alkaptonuria |
|
Mitral valve calcification, Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Li... |
OMIM:203500 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Skeletal muscle atroph... |
ORPHA:238329 |
| Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Skeletal muscle atrophy, Respiratory failure, Neonatal death, Arthrogryposis mul... |
OMIM:611890 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Multiple joint contractures, Calf muscle ... |
ORPHA:370968 |
| Chronic Beryllium Disease |
|
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... |
ORPHA:133 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiom... |
OMIM:613424 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Limb muscle weakness, Hand muscle atrophy |
OMIM:600561 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
| Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Pulm... |
OMIM:115197 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Left ventricular outflow tract obstruction, Respiratory tract infectio... |
ORPHA:308552 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Respiratory distress... |
OMIM:300580 |
| Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
| Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Respiratory failure, Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendon cont... |
OMIM:606612 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Death in infancy, Hypoglycemia, Skeletal muscle atrophy, Respiratory f... |
OMIM:245400 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
| Tularemia |
|
Pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Astheni... |
ORPHA:3392 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration |
OMIM:618328 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Left ventricular outflow tract obstruction, Cardiac shunt, Heart murmur, Abnormality of... |
ORPHA:860 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Chest tightness, Left ventricular hypertrophy, Cong... |
OMIM:604169 |
| Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Chest pain, Pneumothorax, Abdominal pain, Emphysema, Restrictive ventilato... |
ORPHA:538 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Spina bifida occulta, Abnormali... |
OMIM:613686 |
| Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Type 2 ... |
OMIM:605809 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Respiratory distress, Ketotic hypoglycemia, Cardiomyopathy |
ORPHA:26792 |
| Hemochromatosis, Type 1 |
|
Telangiectasia, Abdominal pain, Congestive heart failure, Pleural effusion, Diabetes mellitus, Ar... |
OMIM:235200 |
| Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodi... |
ORPHA:171433 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog... |
OMIM:612387 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Le... |
ORPHA:444013 |
| Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Short neck, Delayed skeletal maturation, Scoliosis, Congenit... |
ORPHA:2332 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Type 2 muscle fib... |
OMIM:254210 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Nocturnal hypoventilation... |
OMIM:603689 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
| Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Respiratory failure, Hypoventilation, Calf muscle ... |
OMIM:310200 |
| Ciliary Dyskinesia, Primary, 1 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Nasal polyposis, Chronic... |
OMIM:244400 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Hypertrophic cardiomyopathy, Hypoglycemia, Death in infancy |
OMIM:619386 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cyanosis, Pulmonary edema, T-wave inversion, ST segment depression, Macroglossia, Ne... |
OMIM:261740 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia |
OMIM:616277 |
| Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Hypoxemia, Pulmonary hypoplasia, Respiratory distress, Conge... |
ORPHA:2140 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Congenital contracture |
OMIM:225753 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Absence Of The Pulmonary Artery |
|
Cyanosis, Systolic heart murmur, Bronchiectasis, Abnormal pulmonary thoracic imaging finding, Pul... |
ORPHA:980 |
| Acquired Methemoglobinemia |
|
Cyanosis, Abdominal pain, Syncope, Hypoxemia, Respiratory distress, Palpitations, Dyspnea, Arrhyt... |
ORPHA:464453 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Hemosiderin-laden macrophages i... |
OMIM:616414 |
| Zygomycosis |
|
Pneumothorax, Pericarditis, Pleural effusion, Hematemesis, Abdominal pain, Pain, Rhinorrhea, Ches... |
ORPHA:73263 |
| Farber Disease |
|
Respiratory insufficiency, Flexion contracture, Nodular pattern on pulmonary HRCT, Respiratory di... |
ORPHA:333 |
| Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Insulin resistance, Hypertension, Myopathy, Respiratory failure, Hypertriglycer... |
ORPHA:363400 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Generalized amyotrophy, Dilated cardiomyopathy, Weakness of facial musculature, Myopathy, Dyspnea... |
ORPHA:352447 |
| Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Abnormal heart morphology, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
| Carnitine Deficiency, Systemic Primary |
|
Impaired gluconeogenesis, Reduced muscle carnitine level, Congestive heart failure, Respiratory d... |
OMIM:212140 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Anaplastic Thyroid Carcinoma |
|
Abnormal skeletal muscle morphology, Respiratory distress, Pain, Upper airway obstruction, Dyspne... |
ORPHA:142 |
| Fixed Subaortic Stenosis |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Postexertional symptom exacerb... |
ORPHA:3092 |
| Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Nocturnal hypoventilat... |
ORPHA:324604 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ventilator dependence with inability to wean, Macroglossia, Respiratory distress, Myopathy, Incre... |
ORPHA:254864 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, S... |
OMIM:607155 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Postexertional sympto... |
ORPHA:57777 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal pulmonary interstitial morphology,... |
ORPHA:330001 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Chest pain, Rhinitis, Rigors, Abdominal cramps, Subconjunctival hemorrhage, Respirat... |
ORPHA:319213 |
| Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
| Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atriove... |
ORPHA:439 |
| Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Cardiomyopathy, Respiratory insufficiency, Skeletal myopathy, Rhabdomyo... |
ORPHA:746 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... |
ORPHA:75840 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Pulmonary infiltrates, Flexion contracture, Congestive heart fai... |
ORPHA:220393 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... |
OMIM:613697 |
| Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Elevated jugular venous pressure, Left-to... |
ORPHA:99095 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Lumbar hyperlordosis |
ORPHA:313892 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Reduced left ventric... |
OMIM:604765 |
| Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Chest pain, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, ... |
OMIM:610910 |
| Hyperekplexia 4 |
|
Respiratory failure, Distal arthrogryposis, Flexion contracture, Camptodactyly |
OMIM:618011 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Weakness of facial musculature |
OMIM:618637 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Respiratory distress, Hypertrophic cardiomyopathy, Exercise intolerance, ... |
OMIM:613561 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber atrophy, Genera... |
OMIM:616866 |
| Wild Type Abeta2M Amyloidosis |
|
Abnormal tendon morphology, Abnormality of the thenar eminence, Macroglossia, Congestive heart fa... |
ORPHA:85446 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... |
ORPHA:2916 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
| Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Lumbar scoliosis |
OMIM:108450 |
| Hyperkalemic Periodic Paralysis |
|
Respiratory insufficiency, Flexion contracture, Death in infancy, Congestive heart failure, Myalg... |
ORPHA:682 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure |
OMIM:610127 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Knee flexion contracture, Respiratory insufficiency, Respiratory failure, Hip contracture |
OMIM:313420 |
| Cardiomyopathy, Dilated, 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:611880 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Respiratory distress |
OMIM:614741 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... |
ORPHA:93315 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hypoketotic hypoglycemia, Respiratory insufficiency, Rhabdomyolysis, Congestive heart failure, Di... |
OMIM:609015 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Insulin resistance, Maternal diabetes, Congestive hear... |
ORPHA:79083 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Cervical C2/C3 ve... |
OMIM:616549 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Respiratory failure, Distal lower limb amyotrophy, Hand muscle atrophy, Dis... |
OMIM:606071 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... |
ORPHA:90650 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Death in childhood, Congestive heart failure, Death in infancy |
OMIM:615440 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Urinary incontinence, Denervation of the diaphragm, Spinal muscular atro... |
OMIM:604320 |
| Snakebite Envenomation |
|
Hypotension, Rhabdomyolysis, Cerebral ischemia, Respiratory paralysis, Cardiogenic shock, Intracr... |
ORPHA:449285 |
| Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Parenchymal consolidation, Subpleural interstitial thickening, Bronc... |
ORPHA:79128 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Death in infancy, Nemaline bodies, Respiratory fa... |
OMIM:619334 |
| Mercury Poisoning |
|
Hypotension, Episodic abdominal pain, Interstitial pneumonitis, Hypertension, Respiratory distres... |
ORPHA:330021 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Respiratory distress |
OMIM:619099 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Increased intramyocellular lipid droplets, Congestive heart failure, Cardiorespir... |
ORPHA:26791 |
| Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Pulmonary hypoplasia, Type 1 muscle fiber predominance, Facial diplegia, Nem... |
ORPHA:171430 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Arthropathy, Anterior vertebral fusion, Fused cervical vertebrae... |
ORPHA:485 |
| Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... |
OMIM:613954 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Central sleep apnea, Congestive heart failure, Hypertrophic cardiomyopathy, Respiratory failure, ... |
ORPHA:70472 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Impairment of activities of daily living... |
ORPHA:90065 |
| Gorlin Syndrome |
|
Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging |
ORPHA:377 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... |
ORPHA:1143 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Episodic tachypnea, Exerci... |
ORPHA:26793 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest |
ORPHA:49827 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... |
OMIM:615248 |
| Diffuse Alveolar Hemorrhage |
|
Pulmonary infiltrates, Chest pain, Hypoxemia, Ground-glass opacification, Restrictive ventilatory... |
ORPHA:90060 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Sudden death, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Intracranial hemorrhage, Fatigue |
ORPHA:3226 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Supraventricular tachycardia, Right bundle branch block, Pulmonary edema, Wolff-Parkins... |
ORPHA:137675 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress |
ORPHA:2759 |
| Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
| Primary Lipodystrophy |
|
Type II diabetes mellitus, Insulin resistance, Angina pectoris, Congestive heart failure, Hyperte... |
ORPHA:90970 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Cough, Atelectasis |
ORPHA:2314 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Cyanosis, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:3309 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Insulin resistance, Congestive heart failure, Myalgia,... |
ORPHA:2348 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Glycosuria, Increased intramyocellular lipid droplets, Respiratory distress, ... |
OMIM:220110 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Chest pain, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive v... |
ORPHA:747 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Death in infancy, Pulmonary hypoplasia, Emphysema, Recurrent pneum... |
OMIM:613177 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress |
ORPHA:238459 |
| Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Transient pulmonary infiltrates, Pulmonary fibrosis, Recurrent intrapu... |
OMIM:178550 |
| Fabry Disease |
|
Respiratory insufficiency, Angina pectoris, Hypertrophic cardiomyopathy, Hyperlipidemia, Transien... |
ORPHA:324 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
| Aortic Arch Interruption |
|
Cyanosis, Systolic heart murmur, Left ventricular outflow tract obstruction, Right bundle branch ... |
ORPHA:2299 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Partial fusion of tarsals, Genu valgum, Knee ... |
OMIM:305620 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Increased resting energy expenditure, Glucose intolerance, Postura... |
ORPHA:369873 |
| Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, Abn... |
ORPHA:90308 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Hip pain, Fatty replacement of skeletal muscle, G... |
ORPHA:52430 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Respiratory insufficiency, Hip contracture, Spinal muscular atrophy, El... |
ORPHA:1145 |
| Congenital Tracheomalacia |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... |
ORPHA:95430 |
| Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Absent inner and outer dynein arms, Respiratory distress, Nasal p... |
OMIM:606763 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
| Autoimmune Hemolytic Anemia |
|
Abdominal pain, Congestive heart failure, Dyspnea, Arrhythmia, Fatigue |
ORPHA:98375 |
| Ethylene Glycol Poisoning |
|
Hypotension, Episodic respiratory distress, Cyanosis, Pulmonary edema, Congestive heart failure, ... |
ORPHA:31826 |
| Immunodeficiency 54 |
|
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections |
OMIM:609981 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Flexion contracture, Death in infancy, Congestive heart failure, Hypertr... |
ORPHA:1194 |
| Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Abnormal EKG, Elevate... |
ORPHA:2041 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Abdominal pain |
ORPHA:890 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Pulmonary insufficiency, Pulmonary hypoplasia, Hypertension, Respirato... |
OMIM:602088 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Death in infancy, Dilated cardiomyopathy, Respiratory distress, Hypert... |
OMIM:614299 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Abnormal vertebral segmentation and f... |
ORPHA:915 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:618234 |
| Malignant Atrophic Papulosis |
|
Ischemic stroke, Abdominal pain, Pleural effusion, Myocardial infarction, Gastrointestinal hemorr... |
ORPHA:679 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Hand muscle atrophy, Respiratory distress, ... |
OMIM:211530 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, ... |
OMIM:611126 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Respiratory distress, Death in infancy |
OMIM:616974 |
| Barth Syndrome |
|
Skeletal myopathy, Recurrent bronchitis, Congestive heart failure, Increased left ventricular end... |
OMIM:302060 |
| Synaptic Congenital Myasthenic Syndromes |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Hypoventilation, Exertional dyspnea, ... |
ORPHA:98915 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Elbow flexion contracture, Hypoplasia of the musculature, Aspiration pneumon... |
ORPHA:2020 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Bronchiectasis, Asthma, Emphysema, Cough |
ORPHA:1164 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Pulmonary fibrosis, Respiratory failure, Recurrent respiratory infecti... |
OMIM:618278 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure |
ORPHA:168486 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Pleural empyema, Abdominal pain, Congestive heart failure, Lung abscess, Pleural effusion, Constr... |
ORPHA:67 |
| Scimitar Syndrome |
|
Pulmonary arterial hypertension, Pulmonary sequestration, Pneumothorax, Left-to-right shunt, Hypo... |
ORPHA:185 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:616198 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis |
OMIM:118100 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Systolic heart murmur, Hypoxemia, Tachypnea, Anomalous pulmonary venous return, Respira... |
ORPHA:555874 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Recurrent singultus, Ocular pain |
ORPHA:71211 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Joint contracture, Respiratory distress |
OMIM:617977 |
| Amyotrophic Lateral Sclerosis |
|
Abnormal respiratory system physiology, Pain, Skeletal muscle atrophy, Dyspnea, Respiratory failu... |
ORPHA:803 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
| Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure, Fatigue, Exertional dyspnea |
ORPHA:90037 |
| Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
| Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Insulin resistance, Macroglossia, Congestive heart failure, Diabetes mellitus, ... |
ORPHA:528 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Respiratory distress, Death in infancy, Congenital contracture |
OMIM:615042 |
| Cocaine Intoxication |
|
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... |
ORPHA:90068 |
| Poliomyelitis |
|
Hypotension, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Impairment of activ... |
ORPHA:2912 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:615330 |
| Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
| Larsen Syndrome |
|
Vertebral fusion, Accessory carpal bones, Spondylolysis, Ventricular septal defect, Cervical kyph... |
OMIM:150250 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... |
OMIM:614370 |
| Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Hypertension associated with pheochromocytoma, Positive regitine blockin... |
ORPHA:94080 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Decreased muscle mass, Elevated jugular venous pressure, Abdominal pain, Congestive heart failure... |
ORPHA:465508 |
| Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
| Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor, Skeletal muscle atrophy, Arthrogryposis multip... |
ORPHA:2254 |
| Nocardiosis |
|
Chest pain, Pneumothorax, Night sweats, Productive cough, Pleuritis, Respiratory distress, Emphys... |
ORPHA:31204 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Kyphosis, Abnormal mitral valve morphology, Fused ce... |
ORPHA:1724 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax, Neonatal hypoglycemia, Cardiomyopathy |
ORPHA:445038 |
| Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Vertebral fusion, Ventricular septal defect, Kyphosis, Bicuspid aorti... |
OMIM:130720 |
| Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Pulmonary insufficiency, Pulmonary hypoplasia, Tracheomalacia, Neonata... |
OMIM:245650 |
| Malaria |
|
Myalgia, Respiratory distress |
ORPHA:673 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Werner Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Congestive heart failure, Hypertension, Miscarriag... |
ORPHA:902 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction... |
OMIM:613426 |
| Waldenström Macroglobulinemia |
|
Respiratory insufficiency, Retinal hemorrhage, Pulmonary infiltrates, Congestive heart failure, E... |
ORPHA:33226 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Abnormal cardiac septum morphology, Vertebral segmentation defect, Bi... |
ORPHA:96169 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Multiple joint contractures, Repeated pneumothoraces, Torticollis, Res... |
ORPHA:536467 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Shock, Pleural effusion, Palpitations, Capillary leak, Hematemesis, Pneumonia, Abdom... |
ORPHA:340 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, Limb-girdle muscle weakness, Muscle fiber atrophy, Recur... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, Limb-girdle muscle weakness, Muscle fiber atrophy, Recur... |
ORPHA:98914 |
| Chitayat Syndrome |
|
Tracheomalacia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Res... |
OMIM:617180 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Mitral valve prolapse, Hip... |
OMIM:618000 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory distress |
OMIM:617895 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Asthma, Hypertension, Congestive heart failure, Dilated cardiomyopathy, Recurre... |
OMIM:203800 |
| Erdheim-Chester Disease |
|
Abnormal pulmonary interstitial morphology, Abdominal pain, Congestive heart failure, Pleural eff... |
ORPHA:35687 |
| Arterial Tortuosity Syndrome |
|
Cardiac arrest, Congestive heart failure, Hypertension, Dilated cardiomyopathy, Respiratory distr... |
ORPHA:3342 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... |
ORPHA:275766 |
| Relapsing Polychondritis |
|
Gangrene, Large vessel vasculitis, Arthralgia, Pericarditis, Abnormal pattern of respiration, Dys... |
ORPHA:728 |
| Familial Atrial Myxoma |
|
Exertional dyspnea, Heart murmur, Congestive heart failure, Chest pain, Tricuspid regurgitation |
ORPHA:615 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Respiratory failure, Central hypoventilation, Episodic hypertension |
OMIM:619483 |
| Scorpion Envenomation |
|
Cardiogenic shock, Abnormal nasal mucus secretion, Abdominal pain, Pain, Arrhythmia, Hyperglycemi... |
ORPHA:466677 |
| Choanal Atresia |
|
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... |
ORPHA:137914 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Flexion contracture, Multiple joint contractures, Subdural hemorrhage, Skeletal muscle atrophy, C... |
OMIM:618291 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Flexion contracture, Abnormal muscle glycogen content, Congestive hear... |
ORPHA:367 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Antenatal intracerebral hemorrhage, Respiratory insufficiency, Respirat... |
OMIM:608836 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert... |
OMIM:272460 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... |
OMIM:618052 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog... |
ORPHA:217563 |
| Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... |
OMIM:616037 |
| Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Hemothorax, Exertional dyspnea, Pulmonary edema, Ce... |
ORPHA:199241 |
| American Trypanosomiasis |
|
Abdominal pain, Congestive heart failure, Myalgia, Dyspnea, Cough, Arrhythmia, Myocarditis, Cardi... |
ORPHA:3386 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
| Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Atelectasis |
OMIM:269860 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Cyanosis, Systolic heart murmur, Exertional dyspnea, Transient i... |
ORPHA:99104 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Short neck, Kyphosis |
ORPHA:2522 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Respiratory insufficiency, Right bundle branch block, Cerebral ischemia, Co... |
ORPHA:1880 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Diabetes mellitus, Type 2 muscle fibe... |
OMIM:613845 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia, Death in early adultho... |
OMIM:605676 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Respiratory distress, Pulmonary hypoplasia, Hypoglycemia, Neonatal death |
OMIM:231680 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Urinary incontinence, Respiratory distress, Congestive heart fai... |
OMIM:616482 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Exertional dyspnea, Congestive heart failure, Arthralgia, Tachycardia, Fatigue |
ORPHA:90033 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Chest pain, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal ... |
OMIM:600858 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Pulmonary edema, Abdominal pain, Pleural effusion, Pericarditis, Cardiorespiratory a... |
ORPHA:188 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Congestive heart failure, Neonatal hypoglycemia, Respiratory distress, Recur... |
OMIM:616271 |
| Mulibrey Nanism |
|
Recurrent lower respiratory tract infections, Congestive heart failure |
OMIM:253250 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Recurrent bronchopulmonary infections, Congestive heart failure, Macroglossi... |
OMIM:617303 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Death in infancy, Facial paralysis, R... |
OMIM:605711 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Congestive heart failure... |
OMIM:610198 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Death in infancy, Irregular respiration, Cardiac ... |
OMIM:604377 |
| Riddle Syndrome |
|
Bronchitis, Abnormal pulmonary interstitial morphology, Telangiectasia, Neonatal asphyxia, Abdomi... |
ORPHA:420741 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... |
ORPHA:348 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory tract infection, Pain, Hypercapnia, Weakness of facial musculature, Dyspnea, Facial p... |
ORPHA:79138 |
| Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
| Simple Cryoglobulinemia |
|
Abdominal pain, Raynaud phenomenon, Congestive heart failure, Hypertension, Arthralgia, Pericardi... |
ORPHA:91139 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Left ventricular outflow tract obstruction, Anomalous ... |
ORPHA:99050 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Ventricular septal defect, Kyphosis, Bicuspid aortic valve, Hip ... |
OMIM:610443 |
| Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
| Listeriosis |
|
Back pain, Rhabdomyolysis, Abdominal pain, Congestive heart failure, Respiratory distress, Miscar... |
ORPHA:533 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
| Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia |
ORPHA:324588 |
| Whim Syndrome |
|
Respiratory tract infection, Bronchiectasis, Recurrent pneumonia, Recurrent upper respiratory tra... |
ORPHA:51636 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Ventric... |
ORPHA:300751 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
| Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Death in infancy, Respiratory failure, Pulmonary fibrosis, Death in ch... |
OMIM:607625 |
| Spinal Arteriovenous Metameric Syndrome |
|
Gangrene, Congestive heart failure, Arthralgia, Fatigue, Bone pain |
ORPHA:53721 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Hemochromatosis, Type 2A |
|
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:602390 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Death in infancy, Congestive heart failure, Respiratory distress, Myop... |
OMIM:615512 |
| Fanconi Renotubular Syndrome 5 |
|
Glycosuria, Lung adenocarcinoma, Hypertension, Emphysema, Pulmonary fibrosis, Decreased DLCO |
OMIM:618913 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Axial muscle stiffness, Respiratory distress |
ORPHA:240085 |
| Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
| Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossification in... |
OMIM:135100 |
| Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Flexion contracture, Asthma, Congestive heart failure, Macroglossia, Recur... |
OMIM:309900 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Skeletal myopathy, Abnormality of the calf musculature, Abnormality of the shoulder girdle muscul... |
ORPHA:565612 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Nonketotic hypoglycemia, Congestive heart failure, D... |
ORPHA:99901 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in infancy, Death in ad... |
OMIM:618042 |
| Auriculocondylar Syndrome 2 |
|
Apnea, Snoring, Respiratory distress |
OMIM:614669 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Ventricular arrhythmia, Supraventricular arrhythmia, Insuli... |
ORPHA:280365 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary infiltrates, Pulmonary embolism, Chest pain, Transient ischemic attack, Asthma, Suprave... |
ORPHA:3260 |
| Leigh Syndrome |
|
Respiratory insufficiency, Abnormal pattern of respiration, Respiratory failure |
OMIM:256000 |
| Friedreich Ataxia |
|
Abnormal EKG, Decreased pyruvate carboxylase activity, Congestive heart failure, Diabetes mellitu... |
OMIM:229300 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Bronchiectasis, Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, ... |
OMIM:123700 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Respiratory tract infection, Abdominal pain, Respiratory distress, Pain, Myositis, S... |
ORPHA:36234 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Torticollis, Respiratory failure, Death in childhood, Fatigue |
OMIM:617186 |
| Infantile Sialic Acid Storage Disease |
|
Death in childhood, Congestive heart failure |
OMIM:269920 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Patent forame... |
OMIM:306955 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis, Hemivertebrae |
OMIM:271520 |
| Granulomatous Disease, Chronic, X-Linked |
|
Pleural effusion, Recurrent pneumonia, Cough, Air bronchogram, Atelectasis |
OMIM:306400 |
| Fabry Disease |
|
Transient ischemic attack, Abdominal pain, Left ventricular hypertrophy, Angina pectoris, Congest... |
OMIM:301500 |
| Odontochondrodysplasia 1 |
|
Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory distress, Death in infancy |
OMIM:184260 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Flexion contracture, Congestive heart failure |
ORPHA:261519 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Persistent fetal circulation, Macroglossia, Congestive heart fai... |
ORPHA:363705 |
| Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Skeletal muscle atrophy, Abnormality of masticatory muscle |
ORPHA:98755 |
| Leigh Syndrome With Cardiomyopathy |
|
Congestive heart failure, Dilated cardiomyopathy, Respiratory distress, Apnea, Hypertrophic cardi... |
ORPHA:70474 |
| Lethal Recessive Chondrodysplasia |
|
Macroglossia, Respiratory distress |
ORPHA:1423 |
| Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Asthma, Respiratory ... |
ORPHA:209905 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Respiratory insufficiency, Cyanosis, Concentric hypertrophic cardiomyopathy, Death in infancy, In... |
OMIM:252010 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Pulmonary insufficiency, Heart murmur, Dilated cardiomyopathy, Congestive heart failure... |
ORPHA:2326 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Sleep apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
| Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal tendon morphology, Congestive heart failure, Arthralgia, Apnea, Hypertrophic cardiomyopa... |
ORPHA:579 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia |
OMIM:606703 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... |
ORPHA:2004 |
| Caudal Regression Syndrome |
|
Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis, Joint stiffn... |
ORPHA:3027 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Knee flexion contracture, Telangiectasia, Muscular dystrophy, Camptodactyly, Respiratory distress... |
OMIM:608799 |
| Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Congestive heart failure, Apnea, Arrhythmia, Abnormal ST segment |
ORPHA:1055 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
| Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis |
ORPHA:530983 |
| Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
| Inhalational Anthrax |
|
Hypotension, Respiratory distress, Internal hemorrhage, Dyspnea, Fatigue |
ORPHA:247257 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... |
OMIM:171480 |
| Alg1-Cdg |
|
Respiratory failure, Cardiomyopathy |
ORPHA:79327 |
| Hemochromatosis, Type 2B |
|
Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Aspiration pneumon... |
ORPHA:354 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Left ventricular outflow tract obstruction, Congestive heart failure, Aortic regurgitation, Aorti... |
OMIM:614980 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogryposis multiplex co... |
OMIM:607598 |
| Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Insulin resistance, Congestive heart failure, Hypertensio... |
OMIM:617253 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
| Metatropic Dysplasia |
|
Respiratory insufficiency, Flexion contracture, Arthrogryposis multiplex congenita, Respiratory f... |
OMIM:156530 |
| Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Exertional dyspnea, Syncope, Angina pectoris, Right ventricular ... |
OMIM:265400 |
| Q Fever |
|
Abnormal pulmonary interstitial morphology, Night sweats, Respiratory distress, Pericarditis, Ple... |
ORPHA:781 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Intracranial hemorrhage, Congestive heart failure, Hypertension, Emphysema, Abnormality of the pu... |
ORPHA:363618 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Respiratory insufficiency, Death in infancy, Congestive heart failure, Hypoglycemia, Skeletal mus... |
OMIM:608779 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Urinary incontinence, Bowel incontinence, Recurrent pneumonia, Skeletal muscle atrophy, Respirato... |
ORPHA:496641 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... |
OMIM:151200 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Cerebral ischemia, Fatigue |
ORPHA:927 |
| Eisenmenger Syndrome |
|
Cyanosis, Aortopulmonary window, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pect... |
ORPHA:97214 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Patellar dislocation, Abnormal cardiac septum morphology, Fused cervical vertebrae, H... |
ORPHA:3320 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Increased bone mineral density, Syno... |
ORPHA:90652 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Flexion contracture, Respiratory distress, Recurrent respiratory inf... |
OMIM:619383 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Death in childhood, Tachypnea |
OMIM:615838 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Distal amyotrophy, Flexion contracture |
OMIM:616505 |
| Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Facial diplegia, Hypercholesterolemia, Distal amyotrophy, Insulin resi... |
ORPHA:273 |
| Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
| Tetanus |
|
Rigors, Abdominal pain, Hypertension, Respiratory distress, Bowel incontinence, Bradycardia, Tach... |
ORPHA:3299 |
| Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Ventricular septal defect, Fused cervical vertebrae, Atrial septal defect, ... |
OMIM:609053 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Facial hypotonia, Decreased muscle mass, Congestive heart failure |
ORPHA:500533 |
| Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Retinal hemorrhage, Pulmonary infiltrates, Elevated bronchoalveolar la... |
OMIM:608710 |
| Boutonneuse Fever |
|
Abdominal pain, Arthralgia, Myalgia, Respiratory failure, Vasculitis |
ORPHA:83313 |
| Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmonary... |
OMIM:178600 |
| Bloom Syndrome |
|
Bronchitis, Respiratory tract infection, Telangiectasia, Rhinitis, Insulin resistance, Chronic pu... |
ORPHA:125 |
| Geleophysic Dysplasia 3 |
|
Mitral regurgitation, Dyspnea, Respiratory failure, Sleep apnea, Pneumonia |
OMIM:617809 |
| Thyroid Lymphoma |
|
Respiratory distress, Pain, Upper airway obstruction, Dyspnea, Stridor |
ORPHA:97285 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Emphysema, Hypoglycemia, E... |
OMIM:613658 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Death in infancy, Neonatal hypoglycemia, Apnea, Hypopnea, Respiratory arrest... |
OMIM:617248 |
| Japanese Encephalitis |
|
Respiratory paralysis, Pulmonary edema, Irregular respiration, Elbow flexion contracture, Rigors,... |
ORPHA:79139 |
| Radio-Renal Syndrome |
|
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure |
ORPHA:3015 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Hypoglycemia, Respiratory distress, Cardiomyopathy |
OMIM:251000 |
| Esophageal Atresia |
|
Cyanosis, Bronchitis, Aspiration, Maternal diabetes, Respiratory distress, Chronic pulmonary obst... |
ORPHA:1199 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Right bundle branch block, Exertional dyspnea, T-wave inversion, EMG: myop... |
ORPHA:263297 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,... |
OMIM:618426 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Flexion contracture, Macroglossia, Congestive heart failure, Res... |
ORPHA:505248 |
| Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Paroxysmal atrial fibrillation, Autophagic vacuol... |
OMIM:164310 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Elbow flexion contracture, Congestive he... |
ORPHA:1900 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Hypoglycemia, Respiratory failure |
OMIM:618329 |
| Folinic Acid-Responsive Seizures |
|
Apnea, Respiratory distress |
ORPHA:79097 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Abdominal pain, Respiratory distress, Cardiomyopathy |
ORPHA:79312 |
| Toxic Epidermal Necrolysis |
|
Sudden cardiac death, Abnormal pleura morphology, Abdominal pain, Respiratory distress, Restricti... |
ORPHA:537 |
| Neutral Lipid Storage Myopathy |
|
Cardiomyopathy, Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, Increased ... |
ORPHA:98908 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hypoglycemia, Left ventricular hypertrophy, Congestive heart failure, Death in infancy |
OMIM:619355 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Cardiac rhabdomyoma, Vertebral wedging, Cardiac fibroma, Kyphoscoliosis, Scolio... |
OMIM:109400 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Fused cervical vertebrae, Flat acetabular roof, Atrial septal defect, ... |
OMIM:617159 |
| Multiple Carboxylase Deficiency |
|
Limb muscle weakness, Respiratory distress, Tachypnea |
ORPHA:148 |
| Juvenile Dermatomyositis |
|
Mucosal telangiectasiae, Calcinosis, Bundle branch block, Telangiectasia of the skin, Vasculitis,... |
ORPHA:93672 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Contractures of the large joints, Respiratory distress, Recurrent respiratory infections |
ORPHA:329178 |
| Leigh Syndrome |
|
Multiple joint contractures, Congestive heart failure, Hypertrophic cardiomyopathy, Hypoglycemia,... |
ORPHA:506 |
| Agnathia-Otocephaly Complex |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:202650 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sacral dimple, Vertebral fusion, Hyperextensibility of the finger joints, Atrial septal defect, J... |
OMIM:213980 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Mitral regurgitation, Congestive heart failure, Tricuspid regurgitation |
OMIM:314400 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Short neck, Hemivertebrae, Tetralogy of Fallot, Transposition of the g... |
ORPHA:1780 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic abdominal pain, Hypertension associated with pheochromocytoma, Positive regitine blockin... |
ORPHA:276621 |
| Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
| Goodpasture Syndrome |
|
Cyanosis, Pulmonary infiltrates, Pulmonary hemorrhage, Bloody bronchoalveolar lavage fluid, Nodul... |
OMIM:233450 |
| Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Hypertension, Congestive heart failure, Palpitations, Neonatal asphyxia, Atria... |
ORPHA:525731 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... |
OMIM:264800 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Fused cervical vertebrae, Muscular ventricular septal defect, Butterfly ver... |
OMIM:619227 |
| 22Q11.2 Deletion Syndrome |
|
Asthma, Abnormal lung lobation, Corneal neovascularization, Chronic pulmonary obstruction, Myalgi... |
ORPHA:567 |
| Microscopic Polyangiitis |
|
Gangrene, Abdominal pain, Congestive heart failure, Arthralgia, Pericarditis, Epistaxis, Myalgia,... |
ORPHA:727 |
| African Iron Overload |
|
Diabetes mellitus, Congestive heart failure, Increased circulating cortisol level |
ORPHA:139507 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Atrial septal defect,... |
OMIM:617190 |
| Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia, Atrial flutter, First degree atrioventricular block, Atria... |
OMIM:160900 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Respiratory insufficiency, Abnormal cardiac ventricular function, Pneumothorax, Congestive heart ... |
ORPHA:90349 |
| Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Pulmonary artery aneurysm, Cardiorespiratory... |
ORPHA:228116 |
| Gitelman Syndrome |
|
Palpitations, Glucose intolerance, Type II diabetes mellitus, Abdominal pain, Insulin resistance,... |
ORPHA:358 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure |
OMIM:300886 |
| Martsolf Syndrome 1 |
|
Cardiac arrest, Congestive heart failure, Tracheomalacia, Recurrent respiratory infections, Cardi... |
OMIM:212720 |
| Osteogenesis Imperfecta, Type Ii |
|
Respiratory insufficiency, Pulmonary insufficiency, Congestive heart failure |
OMIM:166210 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia |
ORPHA:314655 |
| Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Congestive heart failure, Abnormality of the musculature of th... |
ORPHA:137667 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Myalgia, Limb muscle weakness, Fatigue |
OMIM:619259 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Upper airway obstruction, Respiratory distress, Abnormal capillary physiology |
ORPHA:100057 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Arrhythmia |
OMIM:266500 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Respiratory distress, Stillbirth |
OMIM:151210 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Cardiac total anomalous pulmonary ... |
ORPHA:99125 |
| Congenital Enterovirus Infection |
|
Hypotension, Respiratory distress, Pleural effusion, Myocarditis, Cardiomyopathy |
ORPHA:292 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure, Camptodactyly |
OMIM:618804 |
| Gaucher Disease, Perinatal Lethal |
|
Pulmonary hypoplasia, Respiratory distress, Apnea, Neonatal death, Arthrogryposis multiplex conge... |
OMIM:608013 |
| Diaphanospondylodysostosis |
|
Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:608022 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:2707 |
| Cardiac Diverticulum |
|
Chest pain, Diastasis recti, Abnormal EKG, Mitral stenosis, Syncope, Left ventricular hypertrophy... |
ORPHA:1686 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pulmonary fibrosis, Respiratory distress, Arthralgia |
OMIM:612852 |
| Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... |
ORPHA:1826 |
| Cryptococcosis |
|
Chest pain, Nodular pattern on pulmonary HRCT, Respiratory distress, Pleural effusion, Dyspnea, C... |
ORPHA:1546 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Respiratory insufficiency, Hyperaldosteronism, Death in infancy, Hypercholesterolemia, Recurrent ... |
ORPHA:534 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Pr... |
OMIM:268310 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal lung lobation,... |
ORPHA:141127 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Vertebral hypoplasia, Butterfly vertebrae, Hemiverte... |
OMIM:206900 |
| Infantile Krabbe Disease |
|
Respiratory failure, Abnormal heart rate variability, Shoulder girdle muscle weakness, Respirator... |
ORPHA:206436 |
| Dermatomyositis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Abnormal pulmonary interstitial morph... |
ORPHA:221 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesi... |
OMIM:187300 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia, Macroglossia, Respiratory distress |
ORPHA:226313 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Death in childhood, Respiratory distress |
OMIM:615597 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
| Chromosome 18Q Deletion Syndrome |
|
Asthma, Aortic valve stenosis, Recurrent respiratory infections, Congestive heart failure |
OMIM:601808 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Flexion contracture, Rhabdomyolysis, Increased in... |
ORPHA:17 |
| Coccidioidomycosis |
|
Pulmonary infiltrates, Chest pain, Parenchymal consolidation, Pleural empyema, Cerebral ischemia,... |
ORPHA:228123 |
| Costello Syndrome |
|
Respiratory insufficiency, Pneumothorax, Achilles tendon contracture, Macroglossia, Sudden death,... |
OMIM:218040 |
| Myhre Syndrome |
|
Vertebral fusion, Ventricular septal defect, Pericardial effusion, Camptodactyly, Limitation of j... |
OMIM:139210 |
| Mogs-Cdg |
|
Hypoventilation, Pulmonary edema, Left ventricular hypertrophy, Respiratory distress, Apnea |
ORPHA:79330 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure |
ORPHA:3077 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Right ventricular outlet tract obstruction, Diastolic heart m... |
ORPHA:99094 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Contractures of the large joints, Congestive heart failure, Mitral regurgitation, Atrial flutter,... |
ORPHA:324410 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy, Respiratory distress |
OMIM:619272 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory insufficiency, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Death in infan... |
OMIM:610505 |
| Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Transient ischemic attack, C... |
ORPHA:1830 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Congestive heart failure, Death in infancy, Respiratory distress |
OMIM:617156 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... |
OMIM:614473 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Flexion contracture, Hip contracture, Elbow flexion contracture, Apnea, Respiratory failure, Arth... |
OMIM:617301 |
| Dk1-Cdg |
|
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:91131 |
| Primary Sclerosing Cholangitis |
|
Spider hemangioma, Generalized amyotrophy, Abdominal pain, Type I diabetes mellitus, Congestive h... |
ORPHA:171 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Kawasaki Disease |
|
Abnormal pulmonary interstitial morphology, Abdominal pain, Recurrent pharyngitis, Congestive hea... |
ORPHA:2331 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Atrioventricular canal defect, Generalized joint laxity, Truncus arterios... |
ORPHA:508498 |
| Aneurysm Of Sinus Of Valsalva |
|
Heart murmur, Congestive heart failure, Aortic regurgitation, Cough, Dyspnea, Chest pain |
ORPHA:1054 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Moebius Syndrome |
|
Camptodactyly, Respiratory distress, Facial diplegia, Congenital fibrosis of extraocular muscles,... |
OMIM:157900 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Flexion contracture, Respiratory distress |
ORPHA:544503 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Respiratory failure, Cardiomyopathy |
ORPHA:88618 |
| Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Respiratory distress, Card... |
ORPHA:31824 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Flexion contracture, Decreased muscle mass, Generalized amyotrophy, Respiratory distress, Acute i... |
OMIM:271225 |
| Marfan Syndrome |
|
Congestive heart failure, Pulmonary artery dilatation, Emphysema, Chronic fatigue, Myalgia, Skele... |
ORPHA:558 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Impaired glucose tolerance, Elbow flexion contractu... |
OMIM:256040 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Restrictive Dermopathy 2 |
|
Cyanosis, Respiratory distress |
OMIM:619793 |
| Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, Abnormality of masseter muscle, Exercise-induced rhabdomyolysis, Ta... |
ORPHA:423 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy |
ORPHA:37612 |
| Atypical Werner Syndrome |
|
Hyperinsulinemia, Abnormality of the Achilles tendon, Calf muscle hypertrophy, Glycosuria, Type I... |
ORPHA:79474 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic abdominal pain, Hypertension associated with pheochromocytoma, Positive regitine blockin... |
ORPHA:29072 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar scoliosis, Lumbar hyperlordosis |
OMIM:617796 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventri... |
ORPHA:216694 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
| Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Heart murmur, Recurrent bronchitis, Camptodactyly, Macroglossia, Congestive hear... |
OMIM:252500 |
| Achondroplasia |
|
Pulmonary hypoplasia, Upper airway obstruction, Respiratory distress, Death in infancy |
OMIM:100800 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hypoplasia of the musculature, Arthralgia, Diabetes mellitus, Dyspnea, Ar... |
ORPHA:231226 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Abnormal morphology of musculature of pharynx, Lower limb amyotrophy |
ORPHA:280210 |
| Robinow Syndrome |
|
Pulmonary valve atresia, Radioulnar dislocation, Ventricular septal defect, Atrial septal defect,... |
ORPHA:97360 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Nasolacrimal Duct Cyst |
|
Ocular pain, Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodi... |
ORPHA:141083 |
| Aorto-Ventricular Tunnel |
|
Congestive heart failure, Heart murmur |
ORPHA:3400 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Kbg Syndrome |
|
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Short neck, Delayed skeletal maturation |
OMIM:148050 |
| Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Rhabdomyolysis, Abdominal pain, Respirator... |
ORPHA:509 |
| Lymphatic Malformation 7 |
|
Pleural effusion, Respiratory distress, Pulmonary edema, Chylothorax |
OMIM:617300 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Vertebral fusion, Ventricular septal defect, Vertebral segmentation defe... |
ORPHA:373 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Pulmonary arterial hypertension, Bronchiectasis, Congestive heart failure, Type I diabetes mellit... |
ORPHA:391487 |
| Oromandibular Dystonia |
|
Torticollis, Respiratory distress, Pain |
ORPHA:93958 |
| Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... |
ORPHA:774 |
| Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
| Hypoglossia With Situs Inversus |
|
Upper airway obstruction, Respiratory distress |
OMIM:612776 |
| Aceruloplasminemia |
|
Diabetes mellitus, Torticollis, Congestive heart failure |
ORPHA:48818 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Dilated cardiomyopathy, Congestive heart failure, Myalgia, Skeletal muscle atroph... |
OMIM:615895 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Respiratory distress, Stridor |
OMIM:615595 |
| Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Patent foramen ovale, Ventricular septal defect, Fused cervical ve... |
OMIM:157800 |
| Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Cyanosis, Midsystolic murmur, Hypertension, Congestive heart fai... |
OMIM:600309 |
| Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Heart murmur, Congestive heart failure, Tricuspid s... |
ORPHA:95459 |
| Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Camptodactyly of toe, Hypovolemic shock, Respiratory failure, ... |
ORPHA:158687 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Asthma, Congestive heart failure, Macroglo... |
ORPHA:444077 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Hyperaldosteronism, Pulmonary edema, Dilated cardiomyopathy, Congestive hea... |
ORPHA:73224 |
| Abetalipoproteinemia |
|
Respiratory failure, Congestive heart failure, Steatorrhea, Myalgia, Myopathy, Distal lower limb ... |
ORPHA:14 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... |
ORPHA:268882 |
| Apert Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Limited elbow movement, Humeroradial s... |
OMIM:101200 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Congestive heart failure |
ORPHA:163596 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Palate telangiectasia, Ischemic stroke, Cerebral hemorrhage, Nasal mucosa telangiectasi... |
OMIM:610655 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hypoplasia of the musculature, Arthralgia, Diabetes mellitus, Dyspnea, Ar... |
ORPHA:231214 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abdominal pain, Hypertension, Congestive heart failure, Dyspepsia, Myopathy, Gastrointestinal hem... |
ORPHA:85450 |
| Marfan Syndrome |
|
Flexion contracture, Decreased muscle mass, Pneumothorax, Camptodactyly, Congestive heart failure... |
OMIM:154700 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Respiratory distress |
OMIM:618201 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Interstitial pneumonitis, Type I diabetes mellitus, Respiratory... |
ORPHA:37042 |
| Duane Retraction Syndrome |
|
Camptodactyly, Spina bifida occulta, Abnormal vertebral segmentation and fusion, Short neck, Abno... |
ORPHA:233 |
| Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Ventricular septal defect, Fused cervical vertebrae, Atrial septal defect, ... |
OMIM:607323 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Tetralogy of Fallot |
ORPHA:959 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure |
ORPHA:75564 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Respiratory failure |
OMIM:616538 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Angina pectoris, Congestive heart failure |
OMIM:176670 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, Macroglossia, Fle... |
ORPHA:254528 |
| Vici Syndrome |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Myopathy, Recurre... |
OMIM:242840 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Skeletal muscle atrophy, Respiratory fai... |
ORPHA:647 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Neonatal r... |
OMIM:208000 |
| Gm1-Gangliosidosis, Type I |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Death in infancy, Dilated cardiomyopathy |
OMIM:230500 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Noncompaction cardiomyopathy, Recurrent upper respiratory tract infecti... |
ORPHA:508542 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Pneumothorax, Camptodactyly, Congestive heart failure, Hypertrophic ca... |
OMIM:617403 |
| Osteogenesis Imperfecta, Type X |
|
Recurrent pneumonia, Chronic lung disease, Death in childhood, Respiratory distress |
OMIM:613848 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Dilated cardiomyopathy, Respiratory distress, Dyspnea, Stridor, Respiratory failure... |
ORPHA:79404 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Aspiration, Respira... |
OMIM:618733 |
| Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Fused cervical vertebrae, Elbow dislocation, Short neck, Knee dislocation, ... |
OMIM:108720 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Joint contracture of the hand, Death in infancy, Camptodactyly, Respiratory ... |
OMIM:224690 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure |
ORPHA:137608 |
| Frontometaphyseal Dysplasia 2 |
|
Patent foramen ovale, Hip contracture, Fused cervical vertebrae, Bicuspid aortic valve, Camptodac... |
OMIM:617137 |
| Sepsis In Premature Infants |
|
Hypotension, Cyanosis, Nasal flaring, Abnormal respiratory system physiology, Dyspnea, Abnormal m... |
ORPHA:90051 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Respiratory insufficiency, Congestive heart failure, Recurrent pneumonia, Gastrointestinal hemorr... |
OMIM:225400 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth, Limb hypertonia, Facial palsy |
OMIM:259720 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia, Respiratory distress |
OMIM:606164 |
| Chops Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Anomalous pulmonary venous return, Tracheomalaci... |
OMIM:616368 |
| Mgat2-Cdg |
|
Recurrent upper and lower respiratory tract infections, Reflex asystolic syncope, Respiratory dis... |
ORPHA:79329 |
| Kniest Dysplasia |
|
Tracheomalacia, Hip contracture, Respiratory distress |
OMIM:156550 |
| Digeorge Syndrome |
|
Asthma, Recurrent sinusitis, Chronic pulmonary obstruction, Recurrent pneumonia, Atelectasis |
OMIM:188400 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Vertebral fusion, Ventricular septal defect, Kyphosis, Hip dislocation, Radioulnar... |
OMIM:194190 |
| Tuberous Sclerosis Complex |
|
Respiratory tract infection, Hypertension, Internal hemorrhage, Respiratory distress, Respiratory... |
ORPHA:805 |
| Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, ... |
ORPHA:90348 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Hyperextensible hand joints, Vertebral fusion, Camptodactyly |
OMIM:227330 |
| Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Diabetes mellitus, High-output congestive heart failure |
ORPHA:231222 |
| Cardiomyopathy, Dilated, 1Y |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:611878 |
| Autosomal Dominant Hypocalcemia |
|
Hypotension, Abdominal pain, Congestive heart failure, Abnormal pattern of respiration, Arrhythmia |
ORPHA:428 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation |
OMIM:612863 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Neonatal respiratory distress, Tracheomalacia, Respiratory distress, Cardiomyopathy |
OMIM:217980 |
| Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
| Primary Dystonia, Dyt4 Type |
|
Torticollis, Respiratory distress |
ORPHA:98805 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Respiratory distress |
OMIM:300968 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Apnea, Hypertrophic cardiomyopathy... |
ORPHA:255210 |
| Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Pulmonary infiltrates, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:646 |
| Shwachman-Diamond Syndrome 1 |
|
Neonatal respiratory distress, Myocardial necrosis, Respiratory distress, Steatorrhea |
OMIM:260400 |
| Hereditary Angioedema Type 1 |
|
Hypotension, Abdominal pain, Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
| Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Aspiration, Respiratory distress, Apnea, Facial hypotonia, Cardiac conduction ab... |
ORPHA:2131 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Hypertension, Pulmonary hypoplasia, Recurrent pneumonia, Gastrointestinal hemorr... |
ORPHA:731 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Atrioventricular canal defect, Patellar dislocation, Patellar aplasia, Ventricular se... |
OMIM:274000 |
| Aicardi Syndrome |
|
Hemivertebrae, Butterfly vertebrae, Scoliosis, Block vertebrae |
OMIM:304050 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Dilated cardiomyopathy, Respiratory distress... |
ORPHA:79282 |
| Monosomy 18Q |
|
Left-to-right shunt, Aortic valve stenosis, Mitral regurgitation, Congestive heart failure |
ORPHA:1600 |
| Ulbright-Hodes Syndrome |
|
Pneumothorax, Maternal diabetes, Pulmonary hypoplasia, Respiratory distress, Respiratory failure |
ORPHA:3404 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary arterial hypertension, Diastasis recti, Flexion contracture, Camptodactyly, Macroglossi... |
ORPHA:96334 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
| Incontinentia Pigmenti |
|
Camptodactyly of finger, Retinal hemorrhage, Pulmonary arterial hypertension, Cerebral ischemia, ... |
ORPHA:464 |
| Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
| Congenital Disorder Of Deglycosylation 1 |
|
Central sleep apnea, Respiratory distress, Pain, Facial hypotonia, Intrinsic hand muscle atrophy,... |
OMIM:615273 |
| Pachyonychia Congenita |
|
Ear pain, Respiratory distress, Lower limb pain |
ORPHA:2309 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Respiratory distress, Congenital diaphragmatic hernia, Hypertrophic cardi... |
ORPHA:2556 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Scoliosis, Block vertebrae |
ORPHA:50 |
| Plague |
|
Hypotension, Abdominal pain, Respiratory distress, Arthralgia, Chills, Arrhythmia, Hematemesis, C... |
ORPHA:707 |
| Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity, Respiratory distress |
OMIM:251110 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress, Arthralgia |
OMIM:183900 |
| Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity, Respiratory distress |
OMIM:251100 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hypoglycemia, Skeletal muscle atrophy, Recurrent hypoglycemia, Respiratory distress |
OMIM:256810 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Respiratory distress |
ORPHA:1555 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Facial hypotonia, Respiratory distress |
ORPHA:438216 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Knee flexion contracture, Flexion contracture, Hip contracture, Death in infancy, Elbow flexion c... |
OMIM:300868 |
| Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Congestive heart failure, Aortic regurgitation, Premature ventricular contraction, Shortened PR i... |
OMIM:620066 |
| Auriculocondylar Syndrome |
|
Snoring, Obstructive sleep apnea, Respiratory distress |
ORPHA:137888 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Respiratory distress |
ORPHA:2519 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure |
ORPHA:2505 |
| Arboleda-Tham Syndrome |
|
Upper limb amyotrophy, Recurrent aspiration pneumonia, Respiratory distress, Lower limb amyotroph... |
OMIM:616268 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart failure, Hyper... |
ORPHA:91347 |
| Biotinidase Deficiency |
|
Apnea, Limb muscle weakness, Respiratory distress, Hyperventilation |
ORPHA:79241 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:2554 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Tracheobronchomalacia, Ventricular septal defect, Camptodactyly, Hip dislocation, ... |
OMIM:613458 |
| Adnp Syndrome |
|
Urinary incontinence, Recurrent upper respiratory tract infections, Respiratory distress, Aspiration |
ORPHA:404448 |
| Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Mitral stenosi... |
OMIM:231050 |
| Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Respiratory distress, Morgagni diaphragmatic hernia |
OMIM:613309 |
| Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Respiratory distress |
ORPHA:177907 |
| Hallermann-Streiff Syndrome |
|
Respiratory insufficiency, Tracheomalacia, Congestive heart failure |
ORPHA:2108 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171300 |
| Campomelic Dysplasia |
|
Tracheobronchomalacia, Respiratory distress, Apnea, Contracture of the distal interphalangeal joi... |
OMIM:114290 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Myocardial infarction, Respiratory distress |
OMIM:274150 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Friedreich Ataxia 2 |
|
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Diabetic ketoacidosis, Decreased pyruvate c... |
OMIM:601992 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Abnormal pulmonary interstitial morphology, Respiratory distress, Neonatal respiratory distress, ... |
OMIM:614748 |
| Williams Syndrome |
|
Sudden cardiac death, Cerebral ischemia, Type II diabetes mellitus, Abdominal pain, Congestive he... |
ORPHA:904 |
| Short Rib-Polydactyly Syndrome |
|
Respiratory failure |
ORPHA:1505 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Congestive heart failure, Mitral regurgitation, Aortic valve stenosis,... |
OMIM:608328 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Achilles tendon contracture, Corneal neovascularization, Decreased resting energy expenditure, Fa... |
ORPHA:404454 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Heart murmur, Torticollis, Abdominal pain, Congestive heart failure, Aortic regurgitat... |
OMIM:619475 |
| Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Congestive heart failure, Gastrointestinal hemorrhage, Telangiectasia of the ... |
ORPHA:2346 |
| African Trypanosomiasis |
|
Urinary incontinence, Third degree atrioventricular block, Abnormality of circulating cortisol le... |
ORPHA:3385 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Respiratory distress |
OMIM:123790 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Rhinitis, Respiratory distress, Myalgia, Cough, Vulvodynia, Respiratory failure requiring assiste... |
ORPHA:95455 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Ischemic stroke, Transient ischemic attack, Unilateral lung agenesis, Emphysema, Respiratory failure |
ORPHA:500150 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Respiratory distress, Congenital diaphragmatic hern... |
ORPHA:2255 |
| Parkes Weber Syndrome |
|
Chest pain, Back pain, Bounding pulse, Lower limb muscle weakness, Lower limb pain, Pain, Muscle ... |
ORPHA:90307 |
| Pfeiffer Syndrome Type 2 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93259 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Aorta Coarctation |
|
Pulmonary arterial hypertension, Hypertension, Congestive heart failure |
ORPHA:1457 |
| Carney Complex, Type 1 |
|
Congestive heart failure |
OMIM:160980 |
| Pfeiffer Syndrome Type 3 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93260 |
| Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure |
OMIM:260450 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Perimembranous ventricular septal defect, Coronal craniosynostosis, Fused cervical vertebrae, Con... |
ORPHA:83617 |
| Schinzel-Giedion Syndrome |
|
Camptodactyly, Pulmonary hypoplasia, Macroglossia, Respiratory distress, Recurrent pneumonia |
ORPHA:798 |
| Alström Syndrome |
|
Chronic bronchitis, Recurrent sinusitis, Hyperlipidemia, Abnormal coronary artery physiology, Typ... |
ORPHA:64 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory tract infection, Flexion contracture, Respiratory distress, Recurrent upper respirato... |
OMIM:180849 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Aortic valve stenosis, Respiratory distress |
ORPHA:210122 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, Congestive heart failure, Tendon rupture, Pleural effusion, Aortic valve st... |
OMIM:182250 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
| Scalp-Ear-Nipple Syndrome |
|
Hypertension, Supraventricular tachycardia, Congestive heart failure |
OMIM:181270 |
| Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Cyanosis, Gangrene, Transient ischemic attac... |
ORPHA:51608 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Knee flexion contracture, Flexion contracture, Asthma, Elbow flexion con... |
ORPHA:3206 |
| Kasabach-Merritt Syndrome |
|
Hypopnea, Abdominal pain, Respiratory distress |
ORPHA:2330 |
| Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Tricuspid stenosis |
OMIM:105650 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Respiratory failure, Dyspnea |
ORPHA:2636 |
| 8Q24.3 Microdeletion Syndrome |
|
Abnormal lung lobation, Respiratory distress, Gastrointestinal hemorrhage |
ORPHA:508488 |
| Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
| Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy |
ORPHA:31 |
| Cleidocranial Dysplasia 1 |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:119600 |
| Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Respiratory failure, Elbow contracture, Stillbirth |
OMIM:304120 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Rhinitis, Respiratory distress |
OMIM:305100 |
| Craniofacial Microsomia |
|
Genu valgum, Vertebral hypoplasia, Ventricular septal defect, Block vertebrae, Scoliosis, Hemiver... |
OMIM:164210 |
| Doors Syndrome |
|
Aspiration pneumonia, Respiratory distress |
ORPHA:79500 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Recurrent upper and lower respiratory tract infections, Respiratory distress, Cardiomyopathy |
ORPHA:480880 |
| Pmm2-Cdg |
|
Hyperinsulinemia, Aspiration pneumonia, Multiple joint contractures, Insulin resistance, Angina p... |
ORPHA:79318 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion |
OMIM:211380 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Multiple joint contractures, Respiratory distress |
ORPHA:99646 |
| Carney Complex |
|
Hypertension, Congestive heart failure, Increased circulating cortisol level |
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 |
