| Bronchopulmonary Dysplasia |
|
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Respiratory failure requiring assis... |
ORPHA:70589 |
| Asbestos Intoxication |
|
Atelectasis, Hypoxemia, Reduced forced vital capacity, Reduced vital capacity, Respiratory failur... |
ORPHA:2302 |
| Acute Interstitial Pneumonia |
|
Atelectasis, Hypoxemia, Respiratory failure, Arthralgia, Cyanosis, Subpleural honeycombing, Groun... |
ORPHA:79126 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Meconium Aspiration Syndrome |
|
Maternal diabetes, Transient pulmonary infiltrates, Aspiration pneumonia, Pulmonary arterial hype... |
ORPHA:70588 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... |
ORPHA:2064 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Bradycardia, Atelectasis, Hypotension, Hypoxemia, Respiratory tract infection, Pu... |
ORPHA:70587 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... |
OMIM:610017 |
| Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Syncope, Nonproductiv... |
ORPHA:60032 |
| Spinal Muscular Atrophy, Type I |
|
Death in childhood, Recurrent respiratory infections, Proximal muscle weakness in lower limbs, Pr... |
OMIM:253300 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronchiectasis, Abnormal muc... |
OMIM:619466 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Atelectasis, Distal lower limb muscle weakness, Proximal upper limb mu... |
ORPHA:254361 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Dyspnea, Atelectasis, Restrictive ventilatory defect, Hypersensitivity pneumonitis, Hypoxemia, Ni... |
ORPHA:2902 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... |
OMIM:615294 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Chronic sinusitis, Atelectasis, Chronic pulmonary obstruction, ... |
OMIM:253240 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Lower limb muscle weakness, Cough, Upper limb muscle weakness, Res... |
ORPHA:90117 |
| Staphylococcal Necrotizing Pneumonia |
|
Shivering, Diabetes mellitus, Hypoxemia, Respiratory failure, Pneumothorax, Parenchymal consolida... |
ORPHA:36238 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Usual interstitial pneumonia, Hypoxemia, Respiratory failu... |
OMIM:610921 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... |
OMIM:267450 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ground-glass opacification, Recurrent respiratory infections, Neonatal respiratory distress, Whee... |
OMIM:610978 |
| Immunodeficiency 95 |
|
Ground-glass opacification, Recurrent respiratory infections, Respiratory distress, Recurrent vir... |
OMIM:619773 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Vert... |
OMIM:277300 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent pne... |
OMIM:616726 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Bronchitis, Chest tightness, Wheezing, Atelectasis, Respiratory... |
ORPHA:3348 |
| Bronchogenic Cyst |
|
Neck pain, Abnormality of the diaphragm, Dyspnea, Atelectasis, Cough, Abnormal pleura morphology,... |
ORPHA:2357 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Shoulder girdle muscle weakness, Autophagic vacuoles, Res... |
ORPHA:266 |
| Severe Acute Respiratory Syndrome |
|
Dyspnea, Diabetes mellitus, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia,... |
ORPHA:140896 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Hypoplastic left heart, Sacral dimple, Double outlet right ventricle, Bicuspid ... |
OMIM:618845 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Ground-glass opacification, Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspn... |
OMIM:265120 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Scoliosis, Short neck, Fused cervical vertebrae, Flexion contracture, T... |
OMIM:618469 |
| Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Constitutional symptom, Cough, Abnormal pleura m... |
ORPHA:50251 |
| Cryptogenic Organizing Pneumonia |
|
Ground-glass opacification, Dyspnea, Wheezing, Restrictive ventilatory defect, Cough, Hypoxemia, ... |
ORPHA:1302 |
| Familial Nasal Acilia |
|
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... |
ORPHA:922 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Fatigue, Abdominal pain, Congestive heart failure, Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
| Avian Influenza |
|
Ground-glass opacification, Rhabdomyolysis, Miscarriage, Dyspnea, Tachypnea, Pleural effusion, Co... |
ORPHA:454836 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ventilator dependence with inability to wean, Spinal muscular atrophy, Myopathy, Respiratory insu... |
ORPHA:254875 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... |
OMIM:610913 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Diabetes mellitus, Abdominal pain, Respi... |
ORPHA:563 |
| Congenital Myopathy 14 |
|
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Death... |
OMIM:618414 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Type II pneumocyte hypertrophy, Tachypnea, Desquamative interstitial pneumonitis, Cough, Respirat... |
OMIM:263000 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in childhood, Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Death in in... |
OMIM:614096 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt... |
ORPHA:99105 |
| Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Dyspnea, Hypotension, Hypoxemia, Abnormal blood gas level, Pulmonary edema, Pneumonia... |
ORPHA:70578 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Respiratory distress,... |
OMIM:613642 |
| Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Sick sinus syndrome, Bradycardia, Pos... |
ORPHA:1344 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Death in adolescence, Respiratory insuff... |
OMIM:300717 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cardiomyopathy, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Shoulder... |
ORPHA:2596 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Short neck, Ventricular septal defect, Fused cervical vertebrae, Cervical C2/C3 verteb... |
OMIM:214300 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia, Shoulder girdle muscle weakness, Weakness of facial musculature, Fatigue, S... |
OMIM:619477 |
| Tuberculosis |
|
Cough, Abnormal lung morphology, Fatigue |
ORPHA:3389 |
| Idiopathic Pulmonary Hemosiderosis |
|
Ground-glass opacification, Heart murmur, Dyspnea, Reticular pattern on pulmonary HRCT, Diffuse a... |
ORPHA:99931 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Muscle fiber hyaline bodies, Proximal amyotrophy, Fourth heart sound, R... |
OMIM:255160 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Death in childhood, Spinal muscular atrophy, Respiratory insufficiency, Skeletal muscle atrophy, ... |
OMIM:616081 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia, Respiratory failure |
OMIM:619887 |
| Polymyositis |
|
Vasculitis, Respiratory insufficiency, Arrhythmia, Abnormal atrioventricular conduction, Cough, F... |
ORPHA:732 |
| Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Respiratory failure requiring assisted ventilation, Respirator... |
ORPHA:723 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Wheezing, Chro... |
ORPHA:79127 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Hypertriglyceridemia, Type II diabetes mellitus, Congestive heart failure, Insulin ... |
OMIM:615703 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Vertebral fusion, Ventricular septal defect, Thoracolumbar scoliosis, Delayed cran... |
OMIM:113000 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Myopathy, Death in infancy, Neonatal death, Respiratory distress, Centrally nucleate... |
OMIM:300219 |
| Spondylocostal Dysostosis 5 |
|
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Hemivertebrae |
OMIM:122600 |
| Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Cyanosis, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dila... |
ORPHA:99106 |
| Acute Lung Injury |
|
Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Pneumonia, Shoc... |
ORPHA:178320 |
| Congenital Myopathy 8 |
|
Respiratory insufficiency, Type 1 muscle fiber predominance, Weakness of facial musculature, Musc... |
OMIM:618654 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Restrictive ventilatory defect, Respiratory insufficiency, Abnormal pleura morphology, Cough, Abd... |
ORPHA:724 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
| Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure, Respiratory failure, Respiratory failure requiri... |
ORPHA:132 |
| Scedosporiosis |
|
Bronchitis, Pleuritis, Abnormal respiratory system physiology, Arthralgia/arthritis, Diabetes mel... |
ORPHA:449280 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Ventricular septal defect, Short ne... |
OMIM:178110 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory insufficiency, EMG: myopathi... |
OMIM:614399 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Bowel incontinence, Atelectasis, Left ventricular outflow tract obstruction, Respiratory insuffic... |
ORPHA:365 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Chronic pulmonary obstruction, Cough, Tricusp... |
ORPHA:2414 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Ventricul... |
ORPHA:2345 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Restrictive ventilatory defect, Respiratory failure requiring assisted ventilation, Co... |
ORPHA:264675 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... |
OMIM:234810 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Limb-girdle muscular dystrophy, I... |
OMIM:608099 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure |
OMIM:611722 |
| Muscular Dystrophy, Congenital, 1B |
|
Shoulder girdle muscle weakness, Sternocleidomastoid amyotrophy, Pectoralis amyotrophy, Achilles ... |
OMIM:604801 |
| Gaucher Disease Type 2 |
|
Cardiac arrest, Recurrent respiratory infections, Cough, Respiratory distress, Abnormal pattern o... |
ORPHA:77260 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia, Camptodactyly of finger, Atelectasis |
ORPHA:896 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, A... |
ORPHA:244 |
| Idiopathic Bronchiectasis |
|
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... |
ORPHA:60033 |
| Stuve-Wiedemann Syndrome 2 |
|
Camptodactyly, Pulmonary arterial hypertension, Death in adolescence, Neonatal death, Stillbirth,... |
OMIM:619751 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae |
OMIM:309620 |
| Babesiosis |
|
Respiratory insufficiency, Cough, Fatigue, Congestive heart failure, Arthralgia, Myocardial infar... |
ORPHA:108 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Ground-glass opacification, Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Recurre... |
OMIM:620233 |
| Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraven... |
ORPHA:45452 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, Left ventricular outflow tra... |
OMIM:613255 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Shoulder girdle muscle weakness, Restrictive ventilatory defect, Type 1 muscle fiber predominance... |
ORPHA:98913 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Tricuspid regurgitation, Transient ischemic attack, Supraventricular arrhythmia, Bundle branch bl... |
ORPHA:99103 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Ground-glass opacification, Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis oblite... |
ORPHA:1303 |
| Nemaline Myopathy 8 |
|
Death in infancy, Myofibrillar myopathy, Nemaline bodies, Facial palsy, Respiratory failure, Flex... |
OMIM:615348 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Lower limb pain, Dyspnea, Hypertension, Exercise intolerance, Fatigue, Congestive heart failure, ... |
ORPHA:1349 |
| Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, Cardiomyopathy, EMG: ... |
ORPHA:609 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Pulmo... |
OMIM:616867 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Muscular dystrophy, Death in infancy, Apnea, Respiratory failure |
OMIM:613869 |
| Cardiomyopathy, Dilated, 1L |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... |
OMIM:606685 |
| Familial Progressive Cardiac Conduction Defect |
|
Dyspnea, Heart block, Syncope, Arrhythmia, Abdominal pain, Bundle branch block, Congestive heart ... |
ORPHA:871 |
| Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, Myopathy, Palpitations,... |
ORPHA:206569 |
| Pulmonary Alveolar Microlithiasis |
|
Subpleural interstitial thickening, Hypoxemia, Respiratory failure, Pneumothorax, Cyanosis, Oxyge... |
ORPHA:60025 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Myopathy, Respiratory insufficiency, Arrhythmia, Skeletal muscle atrophy, Death in infancy, Conge... |
ORPHA:157973 |
| Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Hypertension, Type II diabetes mellitus, Congestive heart failure, Hypertrophic cardi... |
ORPHA:225 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Pulmonary opacity, Chronic pulmonary obstruction, Cough, Respiratory distress, Asthenia,... |
ORPHA:411703 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
| Cardiomyopathy, Dilated, 1Ff |
|
Death in middle age, Severely reduced left ventricular ejection fraction, Congestive heart failur... |
OMIM:613286 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Abdominal pain, Transient ischemic attack, Arthralgia, Hypertrophic cardiomyopathy, ... |
ORPHA:183 |
| Sandhoff Disease |
|
Recurrent respiratory infections, Congestive heart failure |
ORPHA:796 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Apnea, Congestive heart failure, Bradycardia, Hypoglycemia |
OMIM:619048 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Myopathy, Diabetes mellitus, Left ventricular hypertrophy, Arrhyt... |
OMIM:540000 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Low-output congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy,... |
ORPHA:91130 |
| Perching Syndrome |
|
Cyanosis, Camptodactyly, Respiratory distress, Joint contracture |
OMIM:617055 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1Bb |
|
Dyspnea, Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestiv... |
OMIM:612877 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Aspiration, Pulmonary arterial hypertension, Absent muscle fiber merosin, Atelectas... |
ORPHA:258 |
| Nipah Virus Disease |
|
Hypotension, Cough, Fatigue, Respiratory distress, Recurrent pharyngitis, Myalgia |
ORPHA:99825 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakne... |
ORPHA:86812 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Fiber type grouping, Distal arthrogryposis, Wrist drop, Plantar flexion contracture, Arthrogrypos... |
OMIM:620011 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure, Death in infancy |
OMIM:212080 |
| Cardiomyopathy, Dilated, 1J |
|
Sudden death, Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure,... |
OMIM:605362 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Right bundle branch block, Pulmonary venous hypertension, Cyanosis, Post... |
ORPHA:1329 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced left ventricular ejection fraction, Hypotension, Heart block, Arrhythmia, Hypoxemia, Capi... |
ORPHA:542323 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Minicore myopathy, Myopathy, Weakness of facial musculature, Arrhythmia, Severely reduced left ve... |
OMIM:611705 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory failure... |
ORPHA:2590 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure |
OMIM:619057 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Hypoglycemia |
ORPHA:2022 |
| Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Right bundle branch block, Dyspnea, Mitral regurgitation,... |
ORPHA:75566 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... |
ORPHA:206546 |
| X-Linked Centronuclear Myopathy |
|
Recurrent respiratory infections, Weakness of facial musculature, Necklace skeletal muscle fibers... |
ORPHA:596 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Skeletal muscle atrophy, Respiratory distress, Increased variability i... |
ORPHA:238329 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Palpita... |
OMIM:608751 |
| Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Neonatal respiratory distress, Facial diplegia, Distal lo... |
ORPHA:70 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Pain, Left ventricular hypertrophy, Pulmonary hypoplasia, Hypertension, Respiratory distress, Fle... |
OMIM:616733 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
| Alkaptonuria |
|
Vertebral fusion, Low back pain, Arthropathy, Limited shoulder movement, Kyphosis, Arthritis, Mit... |
OMIM:203500 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Right bundle branch block, Dyspnea, Reduced left ventricular ejection fraction, M... |
OMIM:115197 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
| Cardiomyopathy, Dilated, 1R |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Restrictive cardiomyopathy, Congest... |
OMIM:613424 |
| Chronic Beryllium Disease |
|
Ground-glass opacification, Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respirat... |
ORPHA:133 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Respiratory failure, Limb muscle weakness |
OMIM:600561 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Respiratory insufficiency, Hypoglycosylation of alpha-dy... |
ORPHA:370968 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Neona... |
OMIM:611890 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Tibialis anterior muscle atrophy, Abnormal respiratory system p... |
ORPHA:98905 |
| Cardiomyopathy, Dilated, 1M |
|
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... |
OMIM:607482 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Frontalis muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Respirator... |
OMIM:300580 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Left ventricular hypertrophy, Respiratory failure requiring assisted ventilation, L... |
ORPHA:308552 |
| Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... |
OMIM:613694 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
| Cardiomyopathy, Dilated, 1Dd |
|
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atroph... |
OMIM:606612 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in childhood, Neonatal respiratory distress, Respiratory insufficiency, Skeletal muscle atr... |
OMIM:245400 |
| Tularemia |
|
Neck pain, Ocular pain, Cough, Pulmonary infiltrates, Respiratory distress, Asthenia, Pneumonia, ... |
ORPHA:3392 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Maternal diabetes, Abnormality of blood circulation, Left ventricular outflow tract obstruction, ... |
ORPHA:860 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Vertebral fusion, Scoliosis, Abnormality of the odontoid pr... |
OMIM:613686 |
| Left Ventricular Noncompaction 1 |
|
Chest tightness, Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mit... |
OMIM:604169 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Ketotic hypoglycemia, Myopathy |
ORPHA:26792 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Cheyne-Stokes respiration, Respiratory failure |
OMIM:618328 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Chest pain, Dyspnea, Atelectasis, Restrictive ventilatory defec... |
ORPHA:538 |
| Familial Dilated Cardiomyopathy |
|
Dyspnea, Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ej... |
ORPHA:217607 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory di... |
OMIM:605809 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Arrhythmia, Cardiomyopathy, Abdominal pain, Telangiectasia, Glucose intoleranc... |
OMIM:235200 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Type 1 muscle fiber predominance, Cardiomyopathy, Skeletal muscle atrophy, EMG: ... |
ORPHA:171433 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Pleural effusion, Restrictive ventilatory defect, Hypox... |
OMIM:612387 |
| Kbg Syndrome |
|
Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle, Short neck, ... |
ORPHA:2332 |
| Verheij Syndrome |
|
Scoliosis, Hip dislocation, Vertebral fusion, Short neck, Ventricular septal defect, Hemivertebra... |
OMIM:615583 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... |
ORPHA:444013 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Shoulder girdle muscle weakness, Muscle fiber splitting, Myofibrillar myopathy, Scapular winging,... |
OMIM:603689 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Ty... |
OMIM:254210 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Restrictive ventilatory defect, Muscular dystrophy, Hamstring contractures, Knee fl... |
OMIM:310200 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Right bundle branch block, Left anterior fascicular block, Ventricular tachycardi... |
OMIM:612098 |
| Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Hypoplastic heart, Multiple pte... |
OMIM:312150 |
| Ciliary Dyskinesia, Primary, 1 |
|
Chronic sinusitis, Atelectasis, Nasal polyposis, Chronic rhinitis, Absent outer dynein arms, Bron... |
OMIM:244400 |
| Farber Disease |
|
Atelectasis, Respiratory insufficiency, Skeletal muscle atrophy, Respiratory distress, Arthralgia... |
ORPHA:333 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure, Hypoglycemia, Hypertrophic cardiomyopathy |
OMIM:619386 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, ST segment elevation, Neonatal hypoglycemia, Prolonged QRS complex, Bradycardia, Hy... |
OMIM:261740 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Respiratory failure, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Hypoxemia, Respiratory distress, Conge... |
ORPHA:2140 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Absence Of The Pulmonary Artery |
|
Reduced left ventricular ejection fraction, Cyanosis, Atrial fibrillation, Recurrent respiratory ... |
ORPHA:980 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Death in infancy, Respiratory failure |
OMIM:225753 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Abnormal heart morphology |
ORPHA:1445 |
| Acquired Methemoglobinemia |
|
Dyspnea, Syncope, Palpitations, Hypoxemia, Arrhythmia, Fatigue, Abdominal pain, Respiratory distr... |
ORPHA:464453 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Decreased DLCO, Restr... |
OMIM:616414 |
| Carnitine Deficiency, Systemic Primary |
|
Mitral regurgitation, Myopathy, Recurrent hypoglycemia, Cardiomyopathy, Impaired gluconeogenesis,... |
OMIM:212140 |
| Zygomycosis |
|
Myocarditis, Atelectasis, Diabetes mellitus, Air crescent sign, Abdominal pain, Pneumothorax, Par... |
ORPHA:73263 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Interstitial Lung Disease 1 |
|
Ground-glass opacification, Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ... |
OMIM:619611 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy, Hypertension, Hyperinsulinemia, Hypertriglyceridemia, Respiratory failure, Insulin resi... |
ORPHA:363400 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Hypoplastic heart, Multiple pte... |
OMIM:253290 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Classic Multiminicore Myopathy |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Absent muscle fiber me... |
ORPHA:324604 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dyspnea, Myopathy, Weakness of facial musculature, Arrhythmia, Respiratory insufficiency due to m... |
ORPHA:352447 |
| Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Congestive heart failure... |
OMIM:613252 |
| Fixed Subaortic Stenosis |
|
Dyspnea, Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Left ventricular hypertr... |
ORPHA:3092 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
| Anaplastic Thyroid Carcinoma |
|
Pain, Dyspnea, Abnormal skeletal muscle morphology, Cough, Neoplasm of the lung, Upper airway obs... |
ORPHA:142 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure, Neonatal death |
OMIM:301021 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, Ventilator dependence with inability to wean, Myopathy, Increased muscle glycogen c... |
ORPHA:254864 |
| Isolated Right Ventricular Hypoplasia |
|
Dyspnea, Systolic heart murmur, Right ventricular failure, Hypoxemia, Right-to-left shunt, Fatigu... |
ORPHA:439 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Scoliosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, Hyper... |
OMIM:607155 |
| Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Distal lower limb muscle weakness, Weakness of facial mus... |
ORPHA:98909 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Bowel incontinence, Arrhythmia, Hypertrophic cardiomyopathy, Pulmonary edema, Myoca... |
ORPHA:330001 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Atelectasis, Hypotension, Rhinitis, Rigors, Respiratory distress, Crackles, Subconju... |
ORPHA:319213 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Scoliosis, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis |
ORPHA:313892 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... |
OMIM:178500 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Death in middle age, Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outf... |
OMIM:613251 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, ... |
ORPHA:99095 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Mitral regurgitation, Left ventricular hypertrophy, Lower limb muscle weakness, S... |
ORPHA:746 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Knee flexion contracture, EMG: myopathic abnormalities, Abnormal muscle fiber morpho... |
ORPHA:75840 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventric... |
OMIM:604765 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Dyspnea, Pulmonary infiltrates, Pulmonary fibrosis, Congestive h... |
ORPHA:220393 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... |
OMIM:613697 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Pulmo... |
OMIM:616866 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Chronic Pneumonitis Of Infancy |
|
Ground-glass opacification, Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respirat... |
ORPHA:91359 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... |
OMIM:610910 |
| Hyperekplexia 4 |
|
Flexion contracture, Camptodactyly, Respiratory failure, Distal arthrogryposis |
OMIM:618011 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Exercise intolerance, Respiratory distress, Hyp... |
OMIM:613561 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
| Wild Type Abeta2M Amyloidosis |
|
Pain, Macroglossia, Neck pain, Abnormality of the thenar eminence, Abnormal tendon morphology, Ar... |
ORPHA:85446 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Kyphosis, Patellar dislocation, Hemive... |
ORPHA:2916 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... |
OMIM:600884 |
| Hyperkalemic Periodic Paralysis |
|
Death in early adulthood, Bowel incontinence, Myopathy, Respiratory insufficiency, Arrhythmia, Sk... |
ORPHA:682 |
| Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611880 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Hypoglycosylation of alpha-dystroglycan, Abdominal pain, Respiratory distress, Respiratory failur... |
OMIM:620166 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Myopathy, Respiratory insufficiency, Arrhythmia, Congestive heart failure, Respir... |
OMIM:609015 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:217622 |
| Snakebite Envenomation |
|
Pain, Rhabdomyolysis, Hypotension, Cardiogenic shock, Intracranial hemorrhage, Cerebral ischemia,... |
ORPHA:449285 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Myopathy, Diabetes mellitus, Hypertension, Skeletal muscle hypertrophy, Hypert... |
ORPHA:79083 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hypoglycemia |
OMIM:614741 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short neck, Thoracolumbar scoliosis, Cardiomyopathy, Acetabular dysplasia, Cervical C2/C3 vertebr... |
OMIM:616549 |
| Cardiomyopathy, Dilated, 1Hh |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy |
OMIM:613881 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in childhood, Congestive heart failure, Death in infancy, Hypertrophic cardiomyopathy |
OMIM:615440 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Apnea, Respiratory failure, Neonatal death |
OMIM:610127 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Knee flexion contracture, Respiratory failure, Hip contracture |
OMIM:313420 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Abnormal vertebral segmentation and f... |
ORPHA:90650 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Increased susceptibility to fractures, I... |
ORPHA:93315 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Shoulder girdle muscle atrophy, ... |
OMIM:606071 |
| Lymphoid Interstitial Pneumonia |
|
Ground-glass opacification, Raynaud phenomenon, Dyspnea, Subpleural interstitial thickening, Decr... |
ORPHA:79128 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Ventilator dependence with inability to wean, Spinal muscular atrophy, D... |
OMIM:604320 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Respiratory distress |
OMIM:619099 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Dyspnea, Restrictive ventilatory defect, Arrhythmia, Cardiomyopathy, Skeletal mus... |
ORPHA:26791 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Death in infancy, Nemaline bodies, Neonatal death, Respiratory failure, Incre... |
OMIM:619334 |
| Mercury Poisoning |
|
Dyspnea, Hypotension, Hypertension, Respiratory distress, Respiratory failure, Episodic abdominal... |
ORPHA:330021 |
| Kniest Dysplasia |
|
Abnormal joint morphology, Anterior vertebral fusion, Joint stiffness, Short neck, Laryngotracheo... |
ORPHA:485 |
| Laryngotracheal Angioma |
|
Intercostal retractions, Cough, Apnea, Respiratory distress, Cyanosis, Stridor, Wheezing |
ORPHA:137935 |
| Severe Congenital Nemaline Myopathy |
|
Abnormality of the diaphragm, Facial diplegia, Type 1 muscle fiber predominance, Pulmonary hypopl... |
ORPHA:171430 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Prolonged QTc interval, Cerebral hemorrhage, Left ventricular hypertrophy, Syncope, Ischemic stro... |
ORPHA:90065 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Central sleep apnea, Obstructive sleep apnea, Congestive heart failure, Respiratory failure, Hype... |
ORPHA:70472 |
| Gorlin Syndrome |
|
Vertebral wedging, Scoliosis, Vertebral fusion, Hemivertebrae |
ORPHA:377 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Type 1 muscle fiber predomin... |
OMIM:613954 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia |
ORPHA:49827 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Knee flexion contra... |
ORPHA:1143 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Atelectasis, Productive cough,... |
OMIM:615067 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pain, Exercise-induced rhabdomyolysis, Ventricular tachycardia, Tachypnea, Tachycardia, Arrhythmi... |
ORPHA:26793 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... |
ORPHA:3109 |
| Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopa... |
OMIM:615248 |
| Cardiomyopathy, Dilated, 1K |
|
Gallop rhythm, Congestive heart failure, Dilated cardiomyopathy |
OMIM:605582 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Sudden death |
OMIM:192600 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Diffuse Alveolar Hemorrhage |
|
Ground-glass opacification, Increased DLCO, Dyspnea, Restrictive ventilatory defect, Cough, Hypox... |
ORPHA:90060 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Death in childhood, Recurrent respiratory infections, Dyspnea, Respiratory insufficiency, Skeleta... |
OMIM:211530 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Intracranial hemorrhage, Fatigue, Respiratory failure |
ORPHA:3226 |
| Histiocytoid Cardiomyopathy |
|
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Cough, Atrial fibrillation, Supraventric... |
ORPHA:137675 |
| Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... |
ORPHA:97292 |
| Primary Lipodystrophy |
|
Myopathy, Cardiomyopathy, Hypertension, Skeletal muscle hypertrophy, Hyperlipidemia, Angina pecto... |
ORPHA:90970 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Myopathy, Diabetes mellitus, Skeletal muscle hypertrophy, Hypertriglyceridemia, Congestive heart ... |
ORPHA:2348 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Cough, Recurrent respiratory infections, Atelectasis |
ORPHA:2314 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Fatigue, Crazy paving ... |
ORPHA:747 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdo... |
ORPHA:3309 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Death in childhood, Glycosuria, Weakness of facial musculature, Respiratory insufficiency due to ... |
OMIM:220110 |
| Fabry Disease |
|
Chronic pulmonary obstruction, Abdominal pain, Transient ischemic attack, Angina pectoris, Bundle... |
ORPHA:324 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in childhood, Tracheomalacia, Atelectasis, Pulmonary hypoplasia, Death in infancy, Peripher... |
OMIM:613177 |
| Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia |
ORPHA:238459 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:1345 |
| Aortic Arch Interruption |
|
Right bundle branch block, Systolic heart murmur, Blood pressure substantially higher in arms tha... |
ORPHA:2299 |
| Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, ... |
OMIM:178550 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachyc... |
ORPHA:369873 |
| Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Camptodactyly of finger, Scoliosis, Increased density of long bone diaphyses, W... |
OMIM:305620 |
| Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Gastrointestinal hemorrhage, Congestive heart fail... |
ORPHA:90308 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hip pain, Weakness of muscles of respiration, Cardiomyopathy, EMG: myopathic abnormalities, Fatty... |
ORPHA:52430 |
| Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Nasal polyposis, Respiratory distress, Sinusitis, Bronchiectasi... |
OMIM:606763 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Spinal muscular atrophy, Respiratory insufficiency, Weakness of facial musculature, Inflammatory ... |
ORPHA:1145 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
| Immunodeficiency 54 |
|
Respiratory insufficiency, Recurrent respiratory infections, Respiratory failure |
OMIM:609981 |
| Congenital Tracheomalacia |
|
Intercostal retractions, Productive cough, Pneumothorax, Parenchymal consolidation, Cyanosis, Pul... |
ORPHA:95430 |
| Autoimmune Hemolytic Anemia |
|
Dyspnea, Arrhythmia, Fatigue, Abdominal pain, Congestive heart failure |
ORPHA:98375 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Hypotension, Tachycardia, Prolonged QT interval, Hypertension, Pulmonary edema, Facial... |
ORPHA:31826 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Abdominal pain |
ORPHA:890 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... |
ORPHA:2041 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Pulmonary hypoplasia, Hypertension, Pulmonary insufficiency, Respirato... |
OMIM:602088 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Arrhythmia, Death in infancy, Congestive heart failure, Respiratory fail... |
ORPHA:1194 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in childhood, Death in infancy, Exercise intolerance, Congestive heart failure, Dilated car... |
OMIM:611126 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Short neck, Genu recurvatum, Abnormality of the cervical spine, Abnormal... |
ORPHA:915 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome, Myopathy |
OMIM:618234 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Tachypnea, Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure... |
OMIM:614299 |
| Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Myopathy, Hand muscle weakness, T... |
ORPHA:98915 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Left ventricular hypertrophy |
OMIM:616974 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:616198 |
| Malignant Atrophic Papulosis |
|
Ischemic stroke, Fatigue, Abdominal pain, Gastrointestinal hemorrhage, Arteritis, Respiratory fai... |
ORPHA:679 |
| Barth Syndrome |
|
Skeletal myopathy, Arrhythmia, Exercise intolerance, Fatigue, Tricuspid regurgitation, Congestive... |
OMIM:302060 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Asthma |
ORPHA:1164 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Recurrent respiratory infections, Atelectasis, Respiratory insufficiency, Pul... |
OMIM:618278 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:118100 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture |
OMIM:617977 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness, Hypox... |
ORPHA:2020 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Cough, Abdominal pain, Pleural empyema, Congestive heart failure, Pleural ... |
ORPHA:67 |
| Scimitar Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Hypoplasia of the diaphragm, H... |
ORPHA:185 |
| Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Respiratory failure, Central sleep apnea, Apnea |
ORPHA:168486 |
| Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Respiratory failure requiring assisted ventilation, Hypoxemia, Right ventr... |
ORPHA:555874 |
| Amyotrophic Lateral Sclerosis |
|
Pain, Dyspnea, Abnormal respiratory system physiology, Skeletal muscle atrophy, Fatigue, Respirat... |
ORPHA:803 |
| Neuromyelitis Optica Spectrum Disorder |
|
Ocular pain, Respiratory failure, Recurrent singultus |
ORPHA:71211 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
| Danon Disease |
|
Lower limb amyotrophy, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely... |
OMIM:300257 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure, Fatigue, Exertional dyspnea |
ORPHA:90037 |
| Congenital Generalized Lipodystrophy |
|
Macroglossia, Diabetes mellitus, Skeletal muscle hypertrophy, Hyperinsulinemia, Hypertriglyceride... |
ORPHA:528 |
| Larsen Syndrome |
|
Spondylolysis, Tracheomalacia, Scoliosis, Hip dislocation, Vertebral fusion, Atrial septal defect... |
OMIM:150250 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Hyperventilation, Abdominal pain, Supraventricular arrhythmia, Pneumothora... |
ORPHA:90068 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress, Congenital contracture, Death in infancy |
OMIM:615042 |
| Mosaic Trisomy 20 |
|
Dysplastic tricuspid valve, Scoliosis, Vertebral fusion, Limited pronation/supination of forearm,... |
ORPHA:1724 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Arthrogryposis multiplex congenita, Facial diplegia, Hypomimic face, Respiratory insufficiency, N... |
OMIM:618186 |
| Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
| Poliomyelitis |
|
Pain, Hypovolemic shock, Abnormal skeletal muscle morphology, Hypotension, Lower limb muscle weak... |
ORPHA:2912 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension associated with pheoc... |
ORPHA:94080 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Arthrogryposis multiplex congenita, Respiratory failure |
OMIM:615330 |
| Obesity |
|
< |
