| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t... |
ORPHA:684 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Percussion myotonia, Skeletal muscle hypertrophy, Myotonia with warm... |
OMIM:160800 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Myotonia, Flexion contracture, Respiratory insufficiency, Proximal muscl... |
OMIM:310440 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Spinal muscular atrophy, Respiratory insufficiency, Proximal am... |
OMIM:253300 |
| Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... |
OMIM:611369 |
| Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Percussion myotonia, Skeletal muscle hypertrophy, Myotonia with warm-up phenomenon, Mus... |
OMIM:255700 |
| Myotonia, Potassium-Aggravated |
|
Handgrip myotonia, Skeletal muscle atrophy, Myotonia, Stridor, Percussion myotonia, Skeletal musc... |
OMIM:608390 |
| Paramyotonia Congenita |
|
Handgrip myotonia, Percussion myotonia, Skeletal muscle hypertrophy, Paradoxical myotonia, Inspir... |
OMIM:168300 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... |
OMIM:300717 |
| Zebra Body Myopathy |
|
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-gi... |
ORPHA:97240 |
| Hypokalemic Periodic Paralysis |
|
Myotonia, Abnormal muscle fiber morphology, Respiratory paralysis, Exercise-induced muscle fatigu... |
ORPHA:681 |
| Creatine Phosphokinase, Elevated Serum |
|
Increased muscle fatiguability, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy... |
OMIM:123320 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Increased muscle fatiguability, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
| Rippling Muscle Disease 2 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Percussion-induced rapid rolling muscle con... |
OMIM:606072 |
| Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia of the upper limb, Apnea, Myotonia of the face, Cold-sensitive myoton... |
ORPHA:99734 |
| Brody Disease |
|
Percussion myotonia, Myotonia, Flexion contracture, Skeletal muscle hypertrophy |
OMIM:601003 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Increased muscle fatiguability, Weakness of facial musculature, Facial palsy, Respiratory insuffi... |
OMIM:616323 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... |
OMIM:616081 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Myotonia |
OMIM:254950 |
| Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Myotonia, Muscular dystrophy |
OMIM:158800 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy |
OMIM:613869 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... |
OMIM:265120 |
| Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Atelectasis, Pleural thickening,... |
ORPHA:2302 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Handgrip myotonia, Distal lower limb amyotrophy, Myotonia, Camptodactyly of ... |
ORPHA:324442 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia |
ORPHA:371 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Limb muscle weakness, Exercise-induced muscle fatigue |
ORPHA:45 |
| Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... |
OMIM:615348 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Skeletal muscle atrophy, Facial palsy, Triceps weakn... |
ORPHA:98913 |
| Myotonia Permanens |
|
Myotonia, Dyspnea, Asthma, Generalized muscle hypertrophy, Skeletal muscle hypertrophy |
ORPHA:99735 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Respiratory insufficiency du... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Respiratory insufficiency du... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Respiratory insufficiency du... |
ORPHA:98853 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Death in infancy, Myotonia, Death in early adulthood, Flexion contractur... |
ORPHA:682 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Myotonia, Firm muscles |
OMIM:255710 |
| Perching Syndrome |
|
Respiratory distress, Joint contracture, Cyanosis, Camptodactyly |
OMIM:617055 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb mu... |
ORPHA:209335 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... |
ORPHA:90117 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... |
OMIM:614399 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Achilles tendon contracture,... |
ORPHA:98855 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
ORPHA:243343 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Percussion myoton... |
OMIM:619040 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Myotonia |
OMIM:170400 |
| Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Erythrocyte Lactate Transporter Defect |
|
Exercise-induced muscle fatigue |
OMIM:245340 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
OMIM:605850 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Myopathy, Exercise-induced muscle... |
ORPHA:369847 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... |
OMIM:619334 |
| Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy, Myotonia |
ORPHA:99736 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Weakness of facial musculat... |
OMIM:620265 |
| Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy, Myotonia |
ORPHA:37612 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... |
OMIM:616867 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Increased muscle fatiguability, Myopathy |
OMIM:613077 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:2364 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... |
ORPHA:1302 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Jaundice, Exer... |
OMIM:232800 |
| Pure Mitochondrial Myopathy |
|
Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyotrophy, Shoulder girdl... |
ORPHA:254854 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Respiratory failure, Limb muscle weakness |
OMIM:600561 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Skeletal muscle atrophy, Internally nucleated skeletal muscle f... |
ORPHA:98905 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
| Stormorken Syndrome |
|
Increased muscle fatiguability, Myopathy, Bruising susceptibility, Epistaxis |
OMIM:185070 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy, Cyanosis |
ORPHA:91130 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Abnormal hemidi... |
ORPHA:2257 |
| Xp21 Deletion Syndrome |
|
Increased muscle fatiguability, Decreased muscle mass, Calf muscle hypertrophy, Myopathy, Apneic ... |
ORPHA:261476 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Facial diplegia, Respi... |
OMIM:611890 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... |
OMIM:620249 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Dyspnea, Rhabdomyolysis, Cardiorespiratory arrest, Res... |
ORPHA:26791 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171433 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Congenital contracture |
OMIM:225753 |
| Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Myotonia of the upper limb, Decreased muscle mass, Diastasis recti, Skeletal m... |
ORPHA:3101 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia, Myotonia |
OMIM:160900 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Myotonia, Generalized amyotrophy, Weakness of facial musculature, Type 2 muscl... |
OMIM:602668 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Achalasia, Acrocyanosis |
ORPHA:2400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Increased muscle fatiguability, Dyspnea |
OMIM:618250 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, EMG: myopathic abnorma... |
OMIM:620326 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:713 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Neonatal respiratory distress, Myotonia, Facial hypotonia |
ORPHA:589821 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Death in infancy, Elbow contracture, Percussion myotonia, Nemaline bodies |
OMIM:620275 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture... |
ORPHA:2590 |
| Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability |
OMIM:611489 |
| Hyperekplexia 4 |
|
Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly |
OMIM:618011 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... |
ORPHA:36238 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... |
ORPHA:2140 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Respiratory insufficien... |
OMIM:245400 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
| Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Strid... |
OMIM:606071 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture |
OMIM:313420 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Tachypnea, Respir... |
OMIM:604320 |
| Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Myotonia, Apnea, Pulmonary arterial medial hypertrophy, Elbow flexion contractu... |
OMIM:601559 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Hip contracture, Shoulder flexion contracture, Quadriceps muscle weaknes... |
OMIM:255800 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle f... |
OMIM:620278 |
| Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Exercise-induced muscle fatigue, Anomalous pulmonary venous ret... |
ORPHA:1330 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia, Flexion contracture |
OMIM:615491 |
| Idiopathic Camptocormia |
|
Myositis, Myotonia, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proxim... |
ORPHA:1320 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp... |
ORPHA:199241 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... |
ORPHA:70 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... |
ORPHA:352447 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... |
ORPHA:99931 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171430 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Thyrotoxic Periodic Paralysis |
|
Myotonia, Abnormal muscle fiber morphology, Rhabdomyolysis, Respiratory paralysis, Increased intr... |
ORPHA:79102 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema |
ORPHA:70578 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneum... |
ORPHA:60025 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... |
ORPHA:449280 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... |
OMIM:310200 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Flexion contracture, Respiratory insufficiency, Facial diplegia, Respirat... |
OMIM:618186 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Rhabdomyolysis, Respiratory failure, Respiratory paralysis, Musc... |
ORPHA:449285 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right v... |
ORPHA:444013 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
| Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary... |
ORPHA:2254 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Myotonia, Apnea, Shoulder flexion contracture, Death in... |
ORPHA:800 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:615524 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Dyspnea, Rhinitis, Exercise-induced muscle fatigue |
ORPHA:230 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cutaneous photosensitivity, Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal ... |
ORPHA:438134 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... |
OMIM:615512 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Myopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Handgrip myotonia, Facial hypotonia |
ORPHA:438216 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Myopathy, Respiratory failure |
ORPHA:363400 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... |
ORPHA:258 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Recurrent pneumonia, Muscle moun... |
OMIM:613327 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm... |
ORPHA:2038 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hip contracture, Foot dorsiflexor weakness, Hypercapnia, Hypopl... |
ORPHA:2020 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Handgrip myotonia, Myotonia of the upper limb... |
ORPHA:273 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... |
ORPHA:308552 |
| Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger |
ORPHA:1194 |
| Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Respiratory failure, Abnormality of masticatory muscle |
ORPHA:98755 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Respiratory insufficiency |
ORPHA:1166 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology, Skeletal muscle atrophy |
ORPHA:803 |
| Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
| Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left he... |
ORPHA:2847 |
| Chiari Malformation Type Ii |
|
Limb muscle weakness, Cyanosis, Inspiratory stridor |
OMIM:207950 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture |
ORPHA:284417 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth... |
ORPHA:420741 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Flexion contracture, Distal amyotrophy |
OMIM:616505 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
| Metatropic Dysplasia |
|
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... |
OMIM:156530 |
| Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Congenital diaphragmatic hernia |
OMIM:613630 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis, Camptodactyly of finger |
ORPHA:896 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Aplasia/Hypoplasia of the abdom... |
ORPHA:3309 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... |
OMIM:220110 |
| Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h... |
ORPHA:563 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Congenital diaphragmatic hernia, Abnormal lung lobation, Respiratory insufficie... |
ORPHA:1120 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in... |
OMIM:613845 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature |
OMIM:617239 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
| Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... |
ORPHA:335 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Tachypnea, Anomalous pulmonary venous return, Hypoxemia, Right ventricular hypertrophy |
ORPHA:860 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morpho... |
ORPHA:183 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... |
ORPHA:1329 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency |
OMIM:609015 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal hemidiaphragm morphology, Nonprod... |
ORPHA:980 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Increased muscle lipid content, Elbow fle... |
OMIM:608836 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Torticollis, Death in childhood |
OMIM:617186 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure, Camptodactyly |
OMIM:618804 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respiratory failure, Left ventricul... |
ORPHA:746 |
| Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
| Eosinophilic Fasciitis |
|
Muscular edema, Myositis, Acrocyanosis |
ORPHA:3165 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... |
ORPHA:141127 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira... |
ORPHA:79138 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Arth... |
OMIM:617301 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:601163 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx |
ORPHA:280210 |
| Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Hypoplasia of the mu... |
ORPHA:2912 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Death in infancy, Cyanosis, Apnea, Ragged-red muscle fibers, Respiratory... |
OMIM:252010 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Recurrent pneumonia,... |
ORPHA:496641 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Pneumothorax, Pulmonary hypoplasia, Cyanosis |
OMIM:619879 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis, Tachypnea |
ORPHA:3426 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Joint contracture of the 5th finger |
OMIM:614407 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy |
OMIM:616538 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Limb hypertonia |
OMIM:619580 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
| Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven... |
OMIM:233450 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Congenital diaphragmatic hernia |
OMIM:300887 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Rhabdomyolysis, Respiratory insufficiency, Respiratory failure, Death ... |
OMIM:610505 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... |
ORPHA:1199 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure, Limb joint contracture, Limb hypertonia |
OMIM:620327 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Macroglossia, Myopathy, Pleural effusion, Pulmonary edema |
OMIM:261740 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture, Macroglossia, Respiratory failure, Camptodactyly, Flexion c... |
ORPHA:254528 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration... |
ORPHA:31826 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Muscular dystrophy |
ORPHA:88618 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... |
ORPHA:3342 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness |
ORPHA:206436 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Flexion contracture, Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:263210 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Res... |
OMIM:601186 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Respiratory failure, Fragile skin |
ORPHA:158687 |
| Bloom Syndrome |
|
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia... |
ORPHA:125 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
| Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:300978 |
| Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:380 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Respiratory failure, Death in childhood |
OMIM:618252 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Myopathy, Respiratory failure, Abnormal pat... |
ORPHA:506 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Respiratory insufficiency |
ORPHA:1488 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... |
ORPHA:31204 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Skeletal muscle atrophy, Rh... |
ORPHA:647 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth, Facial palsy, Limb hypertonia |
OMIM:259720 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
| Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... |
ORPHA:221 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Rhabdomyolysis, Respiratory failure |
ORPHA:533 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:166300 |
| Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:36 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital diaphragmatic hernia |
ORPHA:2063 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cyanosis |
OMIM:617478 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Cutane... |
OMIM:615919 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
| Fucosidosis |
|
Decreased muscle mass, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Myasthenia Gravis |
|
Dyspnea, Myositis, Acrocyanosis |
ORPHA:589 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
| Xp22.13P22.2 Duplication Syndrome |
|
Recurrent upper respiratory tract infections, Congenital diaphragmatic hernia |
ORPHA:284180 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
| Serkal Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:139466 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
| Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
| 13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Congenital diaphragmatic hernia, Respiratory insufficiency, Camptodactyly of finger, Anomalous pu... |
ORPHA:2311 |
| Tarp Syndrome |
|
Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Progeroid facial appearance, Morgagni diap... |
OMIM:613177 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
| Histiocytoid Cardiomyopathy |
|
Cough, Cyanosis, Tachypnea, Pulmonary edema |
ORPHA:137675 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p... |
OMIM:611812 |
| Seckel Syndrome 9 |
|
Recurrent respiratory infections, Pulmonary artery hypoplasia, Asthma, Congenital diaphragmatic h... |
OMIM:616777 |
| Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea |
ORPHA:3427 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Torticollis, Congenital diaphragmatic hernia, Recurrent sinusit... |
OMIM:609029 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2143 |
| 1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:250999 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... |
OMIM:613658 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Knee flexion c... |
OMIM:300868 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Left ventricular hypertrophy, E... |
ORPHA:2299 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Multiple joint contractures, Congenital diaphragmatic hernia, C... |
ORPHA:96170 |
| Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Neonatal death, Congenital di... |
OMIM:194080 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin |
ORPHA:79404 |
| Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2470 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Cutis marmorata, Repeated pneumothoraces, Congenital diaphragmatic hernia, Camptodactyly |
OMIM:617602 |
| Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Jaundice, Aplasia/Hypoplasia of the abdominal wall musculature, Respira... |
ORPHA:646 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema, Congenital diaphragmatic hernia |
OMIM:219100 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf... |
ORPHA:293987 |
| Abetalipoproteinemia |
|
Myopathy, Respiratory failure, Distal lower limb muscle weakness |
ORPHA:14 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, Pulmonary artery steno... |
ORPHA:96334 |
| Schisis Association |
|
Congenital diaphragmatic hernia |
ORPHA:63862 |
| Halperin-Birk Syndrome |
|
Aspiration, Flexion contracture, Congenital diaphragmatic hernia, Death in childhood |
OMIM:618651 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... |
ORPHA:805 |
| Familial Dysautonomia |
|
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
| 15Q24 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:94065 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu... |
ORPHA:731 |
| Myhre Syndrome |
|
Generalized muscle hypertrophy, Respiratory insufficiency, Skeletal muscle hypertrophy, Respirato... |
OMIM:139210 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Dyspnea, Erythema, Respiratory failure |
ORPHA:2556 |
| Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Congenital diaphragmatic hernia |
ORPHA:1834 |
| Intellectual Disability-Strabismus Syndrome |
|
Achilles tendon contracture, Joint contracture of the hand, Congenital finger flexion contracture... |
ORPHA:363528 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Multiple joint contractures, Congenital diaphragmatic hernia, Weak... |
OMIM:265000 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia |
ORPHA:563609 |
| Costello Syndrome |
|
Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Respiratory insufficiency, Macroglos... |
OMIM:218040 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger |
ORPHA:2554 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:612530 |
| Arterial Tortuosity Syndrome |
|
Congenital diaphragmatic hernia, Progeroid facial appearance, Pulmonary artery stenosis, Flexion ... |
OMIM:208050 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return |
OMIM:306955 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:958 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... |
ORPHA:97214 |
| Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Diastasis recti, Congenital diaphragmatic hernia, Camptodactyly of fi... |
ORPHA:2092 |
| 2Q37 Microdeletion Syndrome |
|
Tracheomalacia, Congenital diaphragmatic hernia |
ORPHA:1001 |
| Zaki Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619648 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Pulmonary hy... |
ORPHA:1692 |
| Trisomy 1Q |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:261344 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
| Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2409 |
| Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1647 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
| Meacham Syndrome |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Anomalous pulmonary venous return, Aplas... |
ORPHA:3097 |
| Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the lungs, Congenital diaphragmatic hernia |
ORPHA:887 |
| Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
| White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia |
OMIM:616364 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia |
ORPHA:95706 |
| 8P23.1 Microdeletion Syndrome |
|
Pulmonary artery stenosis, Congenital diaphragmatic hernia |
ORPHA:251071 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... |
ORPHA:740 |
| Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1915 |
| Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Congenital diaphragmatic hernia |
OMIM:222448 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str... |
ORPHA:48435 |
| Oligomeganephronia |
|
Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2260 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
| Pagod Syndrome |
|
Death in infancy, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Pulmonary hypopla... |
ORPHA:991 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261197 |
| Fryns Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2059 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:614080 |
| Pentalogy Of Cantrell |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:1335 |
| Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cutis marmorata, Prolonged neonatal jaundice, Acrocyanosis |
ORPHA:51 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2075 |
| Cornelia De Lange Syndrome 1 |
|
Elbow flexion contracture, Cutis marmorata, Pneumonia, Congenital diaphragmatic hernia |
OMIM:122470 |
| Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Stillbirth, Elbow contracture, Respiratory insufficiency |
OMIM:304120 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Emphysema, Unilateral lung agenesis, Respiratory failure |
ORPHA:500150 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:245600 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
| Holoprosencephaly |
|
Aplasia/Hypoplasia of the lungs, Congenital diaphragmatic hernia, Respiratory insufficiency |
ORPHA:2162 |
| White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia |
ORPHA:468678 |
| Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:313850 |
| Opitz Gbbb Syndrome |
|
Stridor, Congenital diaphragmatic hernia, Recurrent aspiration pneumonia, Tracheomalacia |
ORPHA:2745 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Laryngotracheomalacia, Congenital diaphragmatic hernia |
OMIM:618454 |
| 7Q11.23 Microduplication Syndrome |
|
Tracheomalacia, Cutis marmorata, Congenital diaphragmatic hernia |
ORPHA:96121 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Smith-Lemli-Opitz Syndrome |
|
Cutis marmorata, Congenital diaphragmatic hernia, Abnormal lung lobation, Pulmonary hypoplasia, C... |
ORPHA:818 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Congenital diaphragmatic hernia |
ORPHA:268249 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:616546 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1780 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm, Congenital diaphragmatic hernia |
OMIM:614437 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Myocardial calcification |
ORPHA:51608 |
| Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:3380 |
| Acrorenal-Mandibular Syndrome |
|
Elbow flexion contracture, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:200980 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
| Hydrolethalus Syndrome 1 |
|
Stillbirth, Agenesis of the diaphragm, Abnormal lung lobation |
OMIM:236680 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
| Craniorachischisis |
|
Congenital diaphragmatic hernia |
ORPHA:63260 |
| Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:304110 |
| Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:1272 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia, Respiratory insufficiency |
OMIM:617641 |
| Chromosome 15Q25 Deletion Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:614294 |
| Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Congenital diaphragmatic hernia |
ORPHA:280 |
| Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Camptodactyly of finger, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of... |
ORPHA:373 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Acrocyanosis, Apnea, Tendon rupture |
ORPHA:285 |
| Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:273395 |
| Acrofacial Dysostosis 1, Nager Type |
|
Urticaria, Congenital diaphragmatic hernia |
OMIM:154400 |
| Perlman Syndrome |
|
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia |
OMIM:267000 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Partial anomalous pulmonary ... |
OMIM:301044 |
| Distal Deletion 15Q |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:1596 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Tracheomalacia, Partial anomalous pulmonary venous return, Pulmo... |
OMIM:618280 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Kabuki Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2322 |
| Monosomy 9P |
|
Congenital diaphragmatic hernia |
ORPHA:261112 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia |
OMIM:309801 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis, Congenital diaphragmatic hernia |
ORPHA:2255 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Neonatal respiratory distress, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia... |
OMIM:312870 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pulmonary artery stenosis, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
OMIM:600001 |
| C Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic ... |
ORPHA:1308 |
| Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia |
OMIM:301022 |
| Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Cutis marmorata, Congenital diaphragmatic hernia |
OMIM:135900 |
| Iniencephaly |
|
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia |
ORPHA:63259 |
| Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Leiomyosarcoma, Macroglossia |
ORPHA:116 |
| Poland Syndrome |
|
Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia |
ORPHA:2911 |
| Focal Dermal Hypoplasia |
|
Diastasis recti, Congenital diaphragmatic hernia, Telangiectasia |
OMIM:305600 |
| Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618846 |
| Limb Body Wall Complex |
|
Diastasis recti, Congenital diaphragmatic hernia |
ORPHA:2369 |
| Cornelia De Lange Syndrome |
|
Cutis marmorata, Congenital diaphragmatic hernia |
ORPHA:199 |
| Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:157800 |
| Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint of the 4th finger |
OMIM:613406 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Macroglossia, Apneic episodes in infancy, C... |
OMIM:601803 |
