Lipedema |
|
Edema |
OMIM:614103 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Angioedema, Hereditary, 3 |
|
Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Episodic upper airway obstruction |
OMIM:610618 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left a... |
ORPHA:75249 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... |
OMIM:115197 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... |
OMIM:253300 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... |
OMIM:617300 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... |
ORPHA:2302 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... |
ORPHA:57777 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Pedal edema, Cardiorespiratory arrest, Hypotension, Cough,... |
ORPHA:188 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiomatosis, Hemothora... |
ORPHA:199241 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Gastrointestinal dysmotility, Abno... |
ORPHA:330001 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilat... |
ORPHA:563 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor... |
ORPHA:980 |
Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema |
OMIM:106100 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... |
ORPHA:542323 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Polyhydramnios, Dysphagia |
OMIM:615348 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... |
ORPHA:90363 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure... |
ORPHA:132 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure, Polyhydramnios |
OMIM:616794 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Polyhydramnios, Dysphagia |
OMIM:225753 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... |
ORPHA:64739 |
Congenital Myopathy 14 |
|
Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Respir... |
OMIM:618414 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... |
OMIM:265120 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Hypertrophi... |
OMIM:616277 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... |
ORPHA:90117 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... |
ORPHA:90068 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Polyhydramnios, Edema, Cardiomegal... |
ORPHA:79330 |
Acute Lung Injury |
|
Respiratory distress, Shock, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A... |
ORPHA:178320 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn... |
ORPHA:2847 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Respiratory failure |
OMIM:607598 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... |
OMIM:608647 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Abnormal heart morphology, Respiratory failure, Stillbirth, Anal atresia |
OMIM:276950 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Polyhydramnios, Respiratory failure, Pulmonary hypoplasia, Dysphag... |
OMIM:616867 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardiomegaly, Perica... |
ORPHA:555874 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Edema, Myocardial infarction, Angioedema, Neuromuscular dysphagia, Intrac... |
ORPHA:449285 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Cardiomegaly, Crackles, Dyspnea, ... |
ORPHA:99931 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ... |
ORPHA:3384 |
Intermediate Nemaline Myopathy |
|
Polyhydramnios, High, narrow palate, Cardiomyopathy, Respiratory failure, Dysphagia |
ORPHA:171433 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac... |
ORPHA:36238 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Abnormal pulmonary valve morphology, Congestive heart failure, Respiratory fail... |
ORPHA:1194 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t... |
ORPHA:244 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, N... |
OMIM:619003 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... |
ORPHA:31826 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... |
OMIM:620326 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l... |
ORPHA:340 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Ascites |
ORPHA:890 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema |
OMIM:152800 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic... |
OMIM:601612 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness, High palate |
OMIM:611890 |
Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary h... |
OMIM:602088 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Gastrointestinal dysmotility, Respiratory failure, Dysphagia |
OMIM:618637 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... |
OMIM:620265 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Median cleft lip and palate |
ORPHA:1832 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... |
ORPHA:308552 |
Hellp Syndrome |
|
Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Pulmo... |
ORPHA:244242 |
Bronchogenic Cyst |
|
Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morphology, Abnormal... |
ORPHA:2357 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Abnormal pericardium... |
ORPHA:679 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Respiratory insufficiency, P... |
ORPHA:3346 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Abnormal heart morphology, Cardiomyopathy, Respiratory... |
ORPHA:79327 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P... |
ORPHA:568051 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... |
OMIM:620014 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, Death in child... |
OMIM:614922 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Abnormal heart morphology, Respiratory failure, Gastroesophageal reflux... |
ORPHA:70472 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Edema, Cardiac conduction abnormality, Myocarditis, Congestive ... |
ORPHA:466677 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Lymphatic Malformation 5 |
|
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:153200 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Bronchiectasis, Microvillar... |
OMIM:619445 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Recurrent respiratory infections, Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Polyhydramnios, Narrow palate, Respiratory insufficiency, Respiratory failure, Gastroesophageal r... |
OMIM:618186 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Ogden Syndrome |
|
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricula... |
OMIM:300855 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure |
OMIM:619386 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Abnormal heart morphology |
OMIM:614100 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Dysphagia, Neon... |
OMIM:619751 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation |
OMIM:619483 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Hyperekplexia 4 |
|
Respiratory failure, High palate |
OMIM:618011 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Pulmonary insuff... |
OMIM:245650 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Respiratory fa... |
ORPHA:352447 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:210122 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, High palate, Polyhydramnios |
OMIM:615330 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, Congestive heart... |
OMIM:310200 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Respiratory failure, Dysphagia |
OMIM:613435 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Pulmona... |
OMIM:615524 |
Cat Eye Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Patent ductus a... |
OMIM:115470 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Respiratory insufficiency, Res... |
OMIM:609015 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Tibial Muscular Dystrophy |
|
Cardiomyopathy, Respiratory failure |
ORPHA:609 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... |
OMIM:300048 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respirati... |
ORPHA:79139 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormality of the tongue muscle, Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Polyhyd... |
ORPHA:2759 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cleft palate, Cardiomyopathy, Respiratory failure, Impaired myocardial contractilit... |
ORPHA:158687 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Abnormal heart valve morphology |
ORPHA:171719 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema, Right ventricular hype... |
ORPHA:70589 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Death in childh... |
OMIM:620278 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
Serkal Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Malrotation of small bowel, Pu... |
ORPHA:139466 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Recurrent respiratory infections, Respiratory failure, Lymphedema |
ORPHA:3226 |
Meige Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Facial edema, Absence of lymph node germinal cen... |
ORPHA:90186 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Intercost... |
ORPHA:70 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus h... |
ORPHA:3342 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Subdural hemorrh... |
OMIM:618291 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Fetal ascites, Polyhydramnios, Respiratory insuf... |
OMIM:607625 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Atelectasis, Intercostal muscle weakness, Respiratory insuffi... |
ORPHA:258 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Perimembrano... |
OMIM:611376 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Nar... |
OMIM:608836 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, High pala... |
ORPHA:98913 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Protein-losing enteropathy |
OMIM:613502 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Anterio... |
OMIM:220111 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
ORPHA:209905 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Severe Congenital Nemaline Myopathy |
|
Polyhydramnios, Edema of the dorsum of hands, Respiratory failure, Pulmonary hypoplasia, Dysphagia |
ORPHA:171430 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p... |
ORPHA:98905 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Abnormal lung morphology, Patent ductus a... |
ORPHA:141127 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... |
ORPHA:330021 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest... |
OMIM:615512 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Abnormal tricuspid valve morphology, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, C... |
OMIM:619991 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Abnormal small intes... |
ORPHA:90291 |
Dextrocardia |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal lung lobation, Abnormality... |
ORPHA:1666 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Congestive heart failure, Cardiorespiratory arrest, Abnormal heart morphology, Cardiomyo... |
ORPHA:26791 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Respiratory failure, Restrictive ventilatory defect, Dysphagia |
OMIM:606612 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation, Dysphagia |
OMIM:618233 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... |
OMIM:265380 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Cardiomegaly, Respiratory tract infec... |
ORPHA:365 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology |
ORPHA:803 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Dysphagia |
OMIM:613954 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Respiratory failure, Hydrops fetalis, Hepatocellular carcinoma |
ORPHA:88618 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency, Cardiomyopathy, Res... |
ORPHA:746 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Gastroesophag... |
OMIM:616482 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat... |
OMIM:620249 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, High palate, Respir... |
OMIM:618804 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... |
ORPHA:3348 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... |
ORPHA:95430 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Respiratory failure, Polyhydramnios, Dysphagia |
OMIM:619847 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Respiratory failure |
ORPHA:363400 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Dysphagia |
ORPHA:254361 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Patent ductus arteriosus, Hypoplasia of penis, Duodenal stenosis |
ORPHA:2547 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Cerebral edema, Death in childhood |
OMIM:617186 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis |
ORPHA:896 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Ventricular septal defect, Hypospadias, Abnormal lung ... |
ORPHA:1708 |
Radio-Renal Syndrome |
|
Respiratory distress, High, narrow palate, Dyspnea, Respiratory failure, Chylothorax, Pleural eff... |
ORPHA:3015 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestinal malrotation... |
OMIM:243150 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Emphysema |
ORPHA:60 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Dysphagia |
ORPHA:98755 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Spontaneous pneumothorax |
OMIM:618154 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Dysphagia |
OMIM:620166 |
Whim Syndrome |
|
Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Atelectasis, Recurre... |
ORPHA:51636 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... |
ORPHA:31204 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Polyhydramnios, Hypercapnia, Respiratory insufficiency due to m... |
ORPHA:2020 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious pneumonia, Recurrent low... |
ORPHA:60033 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis |
OMIM:604571 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Intraventricular hemorrhag... |
ORPHA:420741 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Geleophysic Dysplasia 3 |
|
Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Mitral regurgitation |
OMIM:617809 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Emphy... |
OMIM:618913 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney, Pericardial effusion, Re... |
OMIM:235510 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Protein-losing enteropathy |
OMIM:608104 |
3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy, Respiratory failure, Pneumothorax |
ORPHA:445038 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Narrow palate |
OMIM:616505 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ... |
OMIM:618278 |
Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Atelectasis, Glandular hypospadias, High palate, Micropenis, Penile hypospadias |
OMIM:300219 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Neonatal death, Atrial septal defect... |
OMIM:620244 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respir... |
OMIM:610505 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Bradycardia, Dysphagia, Neonatal death, R... |
OMIM:617248 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Atelectasis, Pleural effusion, Hypersensitivity pneumo... |
ORPHA:2902 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmo... |
OMIM:612387 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Paralytic ileus, Hypertension, Respiratory fa... |
ORPHA:2912 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology, Mitral valve prolapse, G... |
OMIM:620233 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long penis |
OMIM:190440 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Respiratory failure, Patent foramen ovale |
OMIM:620327 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... |
ORPHA:79127 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Right atrial isomerism, Ureteral duplication, Ventricular septal defect,... |
OMIM:270100 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, High, narrow palate, Respiratory failure, Dyspnea |
ORPHA:2707 |
Boutonneuse Fever |
|
Respiratory failure, Vasculitis |
ORPHA:83313 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Portal hypertension, Tachypnea, Esophageal varix, Abnormal pulmonary inte... |
OMIM:613658 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Polyhydramnios, Recurrent pneumonia, Respirat... |
ORPHA:496641 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent pneumonia, Gastroesophageal reflux, Pul... |
OMIM:613177 |
Feingold Syndrome Type 1 |
|
Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestinal at... |
ORPHA:391641 |
Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Aspiration pneumonia |
ORPHA:70588 |
Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Patent ductu... |
OMIM:269860 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Respi... |
OMIM:252010 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... |
OMIM:175500 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Bloom Syndrome |
|
Pneumonia, Bronchitis, Esophageal neoplasm, Respiratory tract infection, Chronic pulmonary obstru... |
ORPHA:125 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Gastroesophageal reflux, Abnormal heart rate variability |
ORPHA:206436 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hypoventilation, Spontaneous pneumothorax, Porta... |
ORPHA:731 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Pulmonary lymphangiectasia, Cleft palate, High palate, Protein-losing ... |
OMIM:235255 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Esophageal stricture, Dilated cardiomyopathy, Pn... |
ORPHA:79404 |
Leigh Syndrome |
|
Ventricular septal defect, Congestive heart failure, Gastrointestinal dysmotility, Respiratory fa... |
ORPHA:506 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal urinary color, Atelectasi... |
ORPHA:538 |
Costello Syndrome |
|
Ventricular septal defect, Polyhydramnios, Tracheomalacia, Pyloric stenosis, Pneumothorax, Respir... |
OMIM:218040 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Ascites, Respiratory failure |
OMIM:259720 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Respiratory failure, Anal atresia, Oligohydramnios |
OMIM:617666 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Pulmonary hypopl... |
ORPHA:2470 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... |
OMIM:601346 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Renal insufficiency, Gastritis, Hematemesis, Myocardit... |
ORPHA:73263 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Edema |
ORPHA:1054 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea, Dysphagia |
OMIM:617301 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... |
ORPHA:2290 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Respiratory failure, Polyhydramnios |
ORPHA:254528 |
Listeriosis |
|
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Congestive heart failure... |
ORPHA:533 |
Down Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
Meacham Syndrome |
|
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Pericardial effusion, Functional abnormality of... |
ORPHA:90362 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Atrial fibrillation, Intestinal pseudo-obstru... |
ORPHA:273 |
Abetalipoproteinemia |
|
Cardiomegaly, Congestive heart failure, Respiratory failure, Steatorrhea, Fat malabsorption |
ORPHA:14 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary lymphangiectasia, High palate, Protein-losing enteropathy, M... |
ORPHA:1655 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Malrotation of small bowel, Pneumothorax, Functional abnormality... |
ORPHA:2953 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Mitral valve prol... |
ORPHA:2556 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Polyhydramnios, Hydrops fetalis, Respiratory failure, High palate, Atrial septa... |
OMIM:300868 |
Tarp Syndrome |
|
Tetralogy of Fallot, Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, A... |
OMIM:311900 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Tarp Syndrome |
|
Tetralogy of Fallot, Cleft palate, Horseshoe kidney, Glossoptosis, Pulmonary hypoplasia, Abnormal... |
ORPHA:2886 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia, Prote... |
OMIM:618183 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
Syndromic Diarrhea |
|
Atrial septal defect, Villous atrophy, Bicuspid aortic valve, Gastritis, Ventricular septal defec... |
ORPHA:84064 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pyloric stenosis, Dilatation of the ventricular cavity, Pneumothorax, Recurrent pneumonia, Pyelon... |
ORPHA:90349 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapulmonary seques... |
OMIM:200995 |
Myhre Syndrome |
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Ventricular septal defect, Pericardial effusion, Cleft palate, Respiratory insufficiency, Hyperte... |
OMIM:139210 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Respiratory failure |
ORPHA:280210 |
22Q11.2 Deletion Syndrome |
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Anorectal anomaly, Abnormal lung lobation, Gastroesophageal reflux, Vesicoureteral reflux, Atrial... |
ORPHA:567 |
Bare Lymphocyte Syndrome, Type Ii |
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Villous atrophy, Malabsorption, Recurrent upper respiratory tract infections, Colitis, Recurrent ... |
OMIM:209920 |
Immunodeficiency 85 And Autoimmunity |
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Recurrent respiratory infections, Villous atrophy, Pulmonary fibrosis |
OMIM:619510 |
Nijmegen Breakage Syndrome |
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Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Anorectal an... |
ORPHA:647 |
Joubert Syndrome 21 |
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Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Chronic sinusitis |
OMIM:615636 |
Annular Pancreas |
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High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
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High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Visceral Myopathy 1 |
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Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... |
OMIM:155310 |
Fryns Syndrome |
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Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Ventricular septal defect, H... |
OMIM:229850 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Respiratory failure |
ORPHA:3240 |
Meier-Gorlin Syndrome 7 |
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Urethral stricture, Anal stenosis, Ventricular septal defect, Hypospadias, Complete atrioventricu... |
OMIM:617063 |
Autosomal Dominant Hyper-Ige Syndrome |
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Atelectasis, Recurrent respiratory infections, Cleft palate |
ORPHA:2314 |
Relapsing Polychondritis |
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Abnormal endocardium morphology, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Ate... |
ORPHA:728 |
Netherton Syndrome |
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Recurrent respiratory infections, Villous atrophy, Recurrent infection of the gastrointestinal tr... |
OMIM:256500 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Hypertension, Respiratory... |
ORPHA:805 |
Colonic Atresia |
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Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Immunodeficiency 31C |
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Recurrent respiratory infections, Villous atrophy, Bronchiectasis, Gastrointestinal eosinophilia,... |
OMIM:614162 |
Lujo Hemorrhagic Fever |
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Renal insufficiency, Myocarditis, Odynophagia, Atelectasis, Oliguria, Dysphagia, Microscopic hema... |
ORPHA:319213 |
Trisomy 8P |
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Abnormal atrioventricular connection, Malrotation of small bowel, Abnormal left ventricle morphol... |
ORPHA:264450 |
Cog8-Cdg |
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Protein-losing enteropathy |
ORPHA:95428 |
Juvenile Polyposis Syndrome |
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Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Ellis Van Creveld Syndrome |
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Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... |
ORPHA:289 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Ventricular septal defect, Hepatoblastoma, Polyhydramnios, Miscarriage, Pulmonary artery stenosis... |
ORPHA:96334 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Dark urine, Fat malabsorption, Renal cyst, Steatorrhea |
ORPHA:79303 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Pneumonia, Recurrent pneum... |
OMIM:614700 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Fat malabsorption, Acholic stools, Steatorrhea |
OMIM:607765 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Respiratory failure |
OMIM:616538 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Intestinal malrotation, Hiatus hernia, Pneumothorax, Cleft palate, Mitral valve prolapse, Nephrot... |
OMIM:601776 |
Niemann-Pick Disease Type C |
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Fetal ascites, Abnormal lung morphology, Hydrops fetalis, Respiratory insufficiency, Respiratory ... |
ORPHA:646 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Proprotein Convertase 1/3 Deficiency |
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Villous atrophy, Malabsorption |
OMIM:600955 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Oculoskeletodental Syndrome |
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Macroglossia, Mucopolysacchariduria, Protein-losing enteropathy, Hypercalciuria |
OMIM:618440 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, High, narrow palate, Dyspnea, Submucous cleft hard palate, Cleft palate, Re... |
ORPHA:2554 |
Fanconi Anemia |
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Renal insufficiency, Hydroureter, Aganglionic megacolon, Hypospadias, Abnormal preputium morpholo... |
ORPHA:84 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Hypospadias, Renal hypoplasia, Cleft palate, Abnormal heart ... |
OMIM:219000 |
Trichothiodystrophy 3, Photosensitive |
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Pyloric stenosis, Meckel diverticulum |
OMIM:616395 |
Farber Disease |
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Atelectasis, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT |
ORPHA:333 |
Abetalipoproteinemia |
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Fat malabsorption |
OMIM:200100 |
Common Variable Immunodeficiency |
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Recurrent respiratory infections, Pneumonia, Recurrent bronchitis, Gastrointestinal stroma tumor,... |
ORPHA:1572 |
Alg9-Cdg |
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Villous atrophy, Ventricular septal defect, Ureteral hypoplasia, Pericardial effusion, Abnormal l... |
ORPHA:79328 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Transient ischemic attack, Submucous cleft soft palate, Gastrointestina... |
ORPHA:500150 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Respiratory failure, Death in childhood |
OMIM:618252 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Repeated pneumothoraces, Atelectasis, Mitral valve prolapse, High palate, Pulmonary hypoplasia |
ORPHA:536467 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Fat malabsorption |
OMIM:211600 |
Chand Syndrome |
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Atelectasis, Bifid tongue, Cleft palate, Hydroureter |
ORPHA:1401 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Villous atrophy, Esophageal carcinoma, Recurrent upper respiratory tract infections, Enterocoliti... |
ORPHA:391487 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hematochezia, Fat malabsorption |
OMIM:214950 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... |
OMIM:619472 |
Digeorge Syndrome |
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Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, High, narrow palate, A... |
OMIM:188400 |
Metachromatic Leukodystrophy |
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Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum... |
ORPHA:512 |
Granulomatous Disease, Chronic, X-Linked |
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Atelectasis, Pleural effusion, Recurrent pneumonia, Rectal abscess |
OMIM:306400 |
Chylomicron Retention Disease |
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Fat malabsorption, Steatorrhea |
ORPHA:71 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Perianal ... |
OMIM:619573 |
Thrombocytopenia-Absent Radius Syndrome |
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Ureteral duplication, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, C... |
OMIM:274000 |
Autosomal Dominant Cutis Laxa |
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Unilateral renal agenesis, Dilatation of the ventricular cavity, Bronchiectasis, Pyelonephritis, ... |
ORPHA:90348 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Fat malabsorption |
ORPHA:79302 |
Cutis Laxa, Autosomal Dominant 1 |
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Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypercalciuria,... |
OMIM:181000 |
Oculocerebrorenal Syndrome Of Lowe |
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Recurrent respiratory infections, Renal insufficiency, Proteinuria, Malabsorption, Atelectasis, P... |
ORPHA:534 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepatoblastoma, Exaggerated median tong... |
OMIM:312870 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Pneumothorax, Respiratory failure, High palate, Pulmonary hypoplasia, Oligo... |
ORPHA:3404 |
Otopalatodigital Syndrome, Type Ii |
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Respiratory insufficiency, Cleft palate, Respiratory failure, Stillbirth, Atrial septal defect |
OMIM:304120 |
Shwachman-Diamond Syndrome |
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Abnormality of the gastrointestinal tract, Pneumonia, Abnormal heart morphology, Steatorrhea, Fat... |
ORPHA:811 |
Genitopatellar Syndrome |
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Anal stenosis, Multicystic kidney dysplasia, Ventricular septal defect, Malrotation of small bowe... |
OMIM:606170 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Bifid uvula |
ORPHA:2636 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Fat malabsorption, Neurogenic bladder |
ORPHA:96180 |
Isolated Biliary Atresia |
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Acholic stools, Fat malabsorption, Dark yellow urine |
ORPHA:30391 |
Immunodeficiency 82 With Systemic Inflammation |
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Villous atrophy, Duodenal ulcer, Gastritis, Bronchitis, Pneumonia, Bronchiectasis, Colitis, Anope... |
OMIM:619381 |
Wolf-Hirschhorn Syndrome |
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Ventricular septal defect, Hypospadias, Malrotation of small bowel, Cleft palate, Gastroesophagea... |
OMIM:194190 |