Syngnathia |
|
Cleft palate |
OMIM:119550 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capi... |
ORPHA:199241 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... |
OMIM:234810 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Centril... |
OMIM:265450 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea... |
ORPHA:2038 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, High palate, Dysphagia |
OMIM:617055 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... |
ORPHA:50251 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... |
ORPHA:70587 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr... |
ORPHA:141152 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... |
OMIM:619445 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy, Vomiting, Diarrhea |
OMIM:615863 |
Pierre Robin Syndrome |
|
Neonatal respiratory distress, Pierre-Robin sequence, Upper airway obstruction, Cleft palate, Glo... |
OMIM:261800 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough |
ORPHA:64741 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth |
ORPHA:2901 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Thin vermilion border, Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate |
ORPHA:2631 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmo... |
ORPHA:330012 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Ano... |
ORPHA:1302 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate |
ORPHA:718 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Right bundle branch block, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Exertional ... |
ORPHA:254361 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary... |
OMIM:614096 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary ar... |
OMIM:619003 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower... |
OMIM:620321 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia, Absent uvula |
OMIM:616531 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Pulmonary insuff... |
OMIM:245650 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Intestinal malrotation, Pulmonary hypoplasia, Cleft palate |
OMIM:615524 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
Megaepiphyseal Dwarfism |
|
Cleft palate |
OMIM:249230 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, High palate, Neonatal death |
OMIM:300219 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis, Tented upper lip vermilion |
ORPHA:896 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Dysphagia, Cough, Abnorma... |
ORPHA:77260 |
Acute Lung Injury |
|
Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... |
ORPHA:178320 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Respiratory failure, Pulmonary hypoplasi... |
OMIM:616867 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Periodontitis, Ecchymosis, Emphysema, Premature loss of teeth,... |
OMIM:130050 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:3032 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Tricuspid regurgitation, Crackles, Ground-glass opacification, Atelecta... |
OMIM:620233 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Swollen lip, Facial edema,... |
ORPHA:100057 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pu... |
ORPHA:36238 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... |
ORPHA:60033 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Dental crowding, Stillbirth, High palate, Pulmonary hypoplasia |
OMIM:617468 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chronic pulmon... |
ORPHA:2414 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... |
OMIM:619079 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... |
ORPHA:185 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:3033 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Pulmonary artery atresia... |
ORPHA:99050 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Cleft palate, Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia |
OMIM:256050 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Tonne-Kalscheuer Syndrome |
|
Aggressive behavior, Narrow mouth, Velopharyngeal insufficiency, Downturned corners of mouth, Sel... |
OMIM:300978 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hypertension, Pulmonary hypoplasia |
OMIM:616733 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ventila... |
ORPHA:724 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... |
ORPHA:2314 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag... |
ORPHA:99827 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... |
OMIM:619611 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:255320 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
Sprengel Deformity |
|
Cleft palate |
ORPHA:3181 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Microglossia, Dental malocclusion, Cleft palate, Ma... |
OMIM:614669 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Stillbirth, Cleft palate |
ORPHA:294975 |
Absence Of The Pulmonary Artery |
|
Abnormal pulmonary thoracic imaging finding, Abnormal coronary artery morphology, Nonproductive c... |
ORPHA:980 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Tracheomalacia,... |
OMIM:202650 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Short nose, Anteverted nares, Cleft palate |
ORPHA:2015 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Choki... |
ORPHA:137914 |
Tetraamelia Syndrome 2 |
|
Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Glossopt... |
OMIM:618021 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... |
ORPHA:1832 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Cleft palate, Pulmonary hypoplasia, Microglossia |
OMIM:241800 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fal... |
ORPHA:2847 |
Tricuspid Atresia |
|
Cyanosis, Coarctation of aorta, Transposition of the great arteries, Pulmonary artery atresia, Pe... |
ORPHA:1209 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... |
OMIM:616414 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Nemaline Myopathy 9 |
|
Respiratory insufficiency, Polyhydramnios, High palate, Cleft palate |
OMIM:615731 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... |
OMIM:601612 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Tracheoesophageal fistula, Dysphagia, Ne... |
ORPHA:142 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Diarrhea, Malabsorption |
OMIM:600955 |
Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Pulmonary hypoplasia, Cardiorespiratory arrest |
ORPHA:93296 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Congestive heart failure, Patent ductus arteriosus, Narrow mouth, ... |
OMIM:616866 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Subcutane... |
ORPHA:238459 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... |
OMIM:244400 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Cyanosis, Abnormal coronary artery morpholo... |
ORPHA:860 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory insufficiency, High ... |
OMIM:201550 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Chylomicron Retention Disease |
|
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Steatorrhea |
OMIM:246700 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Atelectasis, Respiratory insufficiency, Dysphagia, Cardiomyop... |
ORPHA:258 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Congestive heart failure, Heart... |
ORPHA:3309 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Death in infancy, Delayed eruption of tee... |
OMIM:184260 |
Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Intestinal malrotation, Tachypnea, Submucous cleft hard palate, Double out... |
ORPHA:3426 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Patent ductus arteriosus, Abnormal lung lobation, Resp... |
ORPHA:1120 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Abnormal internal carotid artery morphology, Respiratory tract infection, A... |
ORPHA:365 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Recurrent acute respiratory tract infection, High palate, Paradoxical respiration, Respiratory di... |
OMIM:620011 |
Alg3-Cdg |
|
Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, High palate, Pulmonary h... |
ORPHA:79321 |
Solar Urticaria |
|
Edema, Periorbital edema, Dyspnea, Abnormal tongue morphology, Angioedema, Wheezing, Urticaria, A... |
ORPHA:97230 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormality of the dentition |
ORPHA:1548 |
Esophageal Atresia |
|
Respiratory distress, Bronchitis, Aspiration, Barrett esophagus, Cleft lip, Episodic respiratory ... |
ORPHA:1199 |
Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure,... |
ORPHA:60041 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Recurrent pharyngitis, Hypotension, Cough |
ORPHA:99825 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Pulmonary hypoplasia |
OMIM:601163 |
Harlequin Ichthyosis |
|
Recurrent respiratory infections, Respiratory insufficiency, Dehydration, Self-injurious behavior... |
ORPHA:457 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Cleft palate, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:994 |
Serkal Syndrome |
|
Malrotation of small bowel, Orofacial cleft, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-marrow foam cel... |
OMIM:607616 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Polyhydramnios, Edema |
ORPHA:1423 |
Multiple Osteochondromas |
|
Intestinal obstruction, Pseudoaneurysm, Pneumothorax, Dysphagia, Hemothorax |
ORPHA:321 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... |
ORPHA:133 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Malabsorption, Bronchiectasis, Dehydration, High pal... |
ORPHA:33110 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal m... |
OMIM:618316 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Pulmonary hypoplasia, Cleft palate |
ORPHA:250999 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... |
ORPHA:90117 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... |
OMIM:106700 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema, Facial erythema |
OMIM:618307 |
Renal Tubular Dysgenesis |
|
Hypotension, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:610655 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia |
OMIM:265150 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia, Long philtrum |
OMIM:617895 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration, Dysphagia, Long philtrum |
OMIM:618958 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Thin vermilion border, Respiratory insufficiency, Narrow mouth |
ORPHA:1046 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Cutaneous photosensitivity, Cleft palate, Edema |
OMIM:616570 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
16P11.2P12.2 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Cleft palate |
ORPHA:261204 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Abnormal aortic arch morphology, Cleft palate, Conotruncal defect, Abno... |
ORPHA:2306 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... |
OMIM:613854 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Shock, Crackles, Excessive bleeding after a venipuncture, Atelectasis, Nonp... |
ORPHA:319213 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency, Narrow mouth |
OMIM:224410 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... |
ORPHA:90060 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction, High palate, Hypodontia, Narrow mouth, Microglossia |
OMIM:612776 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Congenital pulmonary... |
OMIM:611812 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary hypoplasia, Pulmonary ins... |
OMIM:602088 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Atrial flutter, Angina pectoris, Transient ischemic attack, Pat... |
ORPHA:1330 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Progeroid facial appearance, Vascular dilatation, Atelectasis, Rectal prolapse,... |
OMIM:613177 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Meckel diverticulum, Cyanosis, Abnormal stomach morphology, Ascending aorta... |
ORPHA:141127 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Narrow mouth, Everted lower lip vermili... |
OMIM:608013 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocardial infarction, Cough, Acrocyanosis, Vasculitis, Respiratory insufficiency, Pul... |
ORPHA:183 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Recurrent bronchiolitis, Polyhydramnios, Dehydration |
OMIM:616069 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia, Dysphagia |
ORPHA:171430 |
Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Increased overbite, Long ph... |
OMIM:618761 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia, Cleft palate, Cleft upper lip |
OMIM:312150 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... |
OMIM:619708 |
Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate |
ORPHA:66637 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Stillbirth, Pulmonary hypoplasia |
OMIM:236500 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:2655 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Jaundice |
ORPHA:60 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ... |
OMIM:615042 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... |
OMIM:606763 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Short lingual frenulum, Anomalous origin of left coronary artery ... |
ORPHA:2326 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Abnormal lung lobation, Stillbirth, Aortic valve stenosis, Pulmonary hypoplas... |
OMIM:615415 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax... |
ORPHA:538 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Pulmonary hypoplasia, Transposition of the great a... |
OMIM:314390 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Dehydration, Malabsorption |
ORPHA:33355 |
Tularemia |
|
Respiratory distress, Tachycardia, Abnormal pulmonary thoracic imaging finding, Pneumonia, Oral u... |
ORPHA:3392 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Rayn... |
ORPHA:79128 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... |
ORPHA:2759 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Recurrent pneumonia, Dehydration, Death in childhood, T... |
OMIM:214150 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
Meacham Syndrome |
|
Death in infancy, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctatio... |
OMIM:608978 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs, Non-midline cleft lip, Orofacial cleft |
ORPHA:1027 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis |
OMIM:614602 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat... |
OMIM:612530 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Thomas Syndrome |
|
Oligohydramnios, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Familial Cold Urticaria |
|
Urticaria, Polydipsia, Erythema, Dehydration |
ORPHA:47045 |
Orofaciodigital Syndrome Xi |
|
Bulbous nose, Wide nasal bridge, Cleft palate |
OMIM:612913 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Dysphagia, Resp... |
OMIM:620278 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Congenital Myopathy 17 |
|
Tented upper lip vermilion, Respiratory tract infection, Dental malocclusion, Cleft palate, Respi... |
OMIM:618975 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Aggres... |
OMIM:619148 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Smooth philtrum |
OMIM:263210 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... |
OMIM:615237 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveolar capillary dysplasia, Respirator... |
OMIM:601186 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Cyanosis, Crackles, Righ... |
ORPHA:1329 |
Farber Disease |
|
Respiratory distress, CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent u... |
ORPHA:333 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Patent d... |
OMIM:269860 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return |
OMIM:614433 |
Holoprosencephaly 4 |
|
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med... |
OMIM:142946 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Autoinflammation With Infantile Enterocolitis |
|
Episodic vomiting, Villous atrophy, Secretory diarrhea, Enterocolitis |
OMIM:616050 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... |
ORPHA:199306 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea |
OMIM:602579 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Cleft palate, Respiratory insufficiency, Tooth agenesis, Abnormal aortic mor... |
ORPHA:1166 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Carious teeth, Atelectas... |
ORPHA:536467 |
Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Pulmonary fibrosis, Dysphagia, Pulmonary arterial hypertension, Mucos... |
ORPHA:220402 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Pleural effusion, Unilateral cleft lip, Pulmonary hypoplasia, Hypertrophic cardiomy... |
OMIM:616897 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Cleft palate |
ORPHA:85166 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, Esophageal atresia, Pulmon... |
OMIM:265380 |
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 |
Caudal Regression Syndrome |
|
Impulsivity, Orofacial cleft, Hypertension, Pulmonary hypoplasia, Anal atresia |
ORPHA:3027 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fused teeth, High... |
OMIM:614091 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia |
OMIM:178370 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Prominent nasal bridge, Cleft palate |
ORPHA:85273 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Dehydration |
ORPHA:28 |
Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate, Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia |
OMIM:608022 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle... |
OMIM:619736 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia, Cleft palate |
OMIM:253290 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... |
ORPHA:494424 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Cleft palate, Respiratory insufficiency, Pulmonary hypoplasia, Narrow mouth |
ORPHA:1865 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Anorexia, Dehydration |
ORPHA:79312 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:187600 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Cerebral berry aneurysm, Portal hypertension |
OMIM:210050 |
Chand Syndrome |
|
Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes... |
ORPHA:1401 |
Relapsing Polychondritis |
|
Pericarditis, Dyspnea, Atelectasis, Myocarditis, Erythema, Large vessel vasculitis, Anteriorly pl... |
ORPHA:728 |
Scleromyxedema |
|
Transient ischemic attack, Abnormal coronary artery morphology, Aged leonine appearance, Raynaud ... |
ORPHA:167635 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Convex nasal ridge, Cleft palate |
OMIM:600252 |
Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis, Long philtrum, Pulmonary arter... |
OMIM:608149 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Depressed nasal bridge, Pierre-Robin sequence, Anteverted nares, Cleft palate |
OMIM:184840 |
Marden-Walker Syndrome |
|
High, narrow palate, Pyloric stenosis, Cleft palate, High palate, Pulmonary hypoplasia, Narrow mo... |
OMIM:248700 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Cleft palate, High palate, Compulsive behaviors, Attention deficit hyperactivity disorder, Open m... |
OMIM:620021 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Abnormal pleura morphology, Crackles, Dyspnea, Restrictive ventilatory defec... |
ORPHA:210136 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Open bite, Depressed nasal ridge, Cleft palate, Tooth agenesis, Short col... |
ORPHA:1248 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Cleft palate |
ORPHA:217 |
15Q11.2 Microdeletion Syndrome |
|
Coarctation of aorta, Self-injurious behavior, Total anomalous pulmonary venous return, Attention... |
ORPHA:261183 |
Zygomycosis |
|
Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Cough, Atelectasis, Pulmonary ... |
ORPHA:73263 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... |
OMIM:300770 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Interstitial pneumonitis, Res... |
ORPHA:330021 |
Central Diabetes Insipidus |
|
Polydipsia, Anorexia, Dehydration |
ORPHA:178029 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Thin upper lip vermilion, Dental crowding, Aortic root aneurysm, Pulmonary hypoplasi... |
OMIM:145420 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Hypertension, Pulmonary hypoplasia, Polydipsia |
ORPHA:2260 |
Fryns Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Median cleft lip, Non-... |
ORPHA:2059 |
Enteric Anendocrinosis |
|
Dehydration, Malabsorption |
ORPHA:83620 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus |
ORPHA:2476 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula |
OMIM:601110 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Pulmonary hypoplasia |
OMIM:191830 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Parietal Foramina 1 |
|
Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Short philtrum, Cleft palate |
ORPHA:3305 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Bamforth-Lazarus Syndrome |
|
Polyhydramnios, Cleft palate |
OMIM:241850 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Stroke, Cerebral ischemia |
ORPHA:3325 |
Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus, Cleft palate, Respiratory ... |
OMIM:616300 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... |
ORPHA:99931 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Primary Effusion Lymphoma |
|
Dyspnea, Pleural effusion |
ORPHA:48686 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Wide mouth, Widely spaced teeth, Respiratory distress |
OMIM:300934 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:176860 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia, Duodenal stenosis |
ORPHA:2470 |
Tarp Syndrome |
|
Cyanosis, Apnea, Pierre-Robin sequence, Tetralogy of Fallot, Cleft palate, Alveolar ridge overgro... |
ORPHA:2886 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula... |
OMIM:614742 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan... |
ORPHA:99125 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Diffuse reticular or finely nodular infiltrations, Cough, Chr... |
ORPHA:1163 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Abnormal intestine morphology, Pu... |
ORPHA:1848 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Pulmonary hypoplasia, Cleft palate, Narrow mouth |
OMIM:251230 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:3035 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Polyhydramnios, Fragile skin, Congenital pyloric atresia |
OMIM:612138 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Pulmonary hypop... |
ORPHA:96179 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Hereditary Methemoglobinemia |
|
Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,... |
OMIM:616898 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Edema, Dehydration |
ORPHA:103910 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, Orofacial cl... |
ORPHA:958 |
Netherton Syndrome |
|
Recurrent respiratory infections, Malabsorption, Asthma, Dehydration, Urticaria, Emphysema |
ORPHA:634 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Crowded maxillary incisors, Abnormal lung lobation, Narrow palate, Aplasia/Hypoplasia of the lung... |
ORPHA:2063 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... |
OMIM:620326 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Polyhydramnios |
OMIM:300580 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Malabsorption, Carious teeth, Dyspnea, Congestive heart failure, Xero... |
ORPHA:220393 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Narrow palate, Macroglossia, High palate, Pulmonary hypoplasia, Long philtrum |
OMIM:617022 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia, Cleft palate, Cleft upper lip |
OMIM:612284 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Suprav... |
ORPHA:75249 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hyperactiv... |
ORPHA:209905 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Pursed lips, Apnea, Carious teeth, Pulmonary arterial medial hypertrophy, Respi... |
OMIM:601559 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... |
ORPHA:662 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... |
OMIM:115197 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Triangular mouth, Respirato... |
ORPHA:98915 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Ileal atresia, Pate... |
OMIM:619351 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Cough, Pleural effusion |
OMIM:306400 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Protruding tongue, High, narrow palate, Patent ductus arteriosus, ... |
OMIM:214100 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Everted lower lip vermilion, Dehydration, Abnormality of the de... |
ORPHA:313 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Hypophosphatasia |
|
Emphysema, Respiratory insufficiency, Abnormality of the dentition |
ORPHA:436 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Facial erythem... |
ORPHA:284227 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Deep philtrum, Recurren... |
ORPHA:314655 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Anorexia, Right ventricular failure, Nonproductive cough, Dys... |
ORPHA:97287 |
Thoracoabdominal Syndrome |
|
Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transposition of the great arteries, Pul... |
OMIM:313850 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, ... |
OMIM:619879 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Cleft palate |
ORPHA:2635 |
Velocardiofacial Syndrome |
|
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... |
OMIM:192430 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate |
OMIM:183700 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Prolonged QRS complex, Left axis deviation, Congestive hea... |
OMIM:261740 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... |
OMIM:618042 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Apnea, Pulmonary hypoplasia, Long philtrum |
ORPHA:85201 |
Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:474 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO... |
OMIM:233450 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cyanosis, Tachypnea,... |
ORPHA:555874 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, High palate, ... |
OMIM:619383 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Aortopulmonary window, Absent pulse, Tricuspid regurgitation, Pa... |
ORPHA:2299 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... |
ORPHA:90068 |
Diamond-Blackfan Anemia 20 |
|
Total anomalous pulmonary venous return |
OMIM:618313 |
Pentalogy Of Cantrell |
|
Non-midline cleft lip, Orofacial cleft, Cleft palate, Pulmonary hypoplasia, Tetralogy of Fallot |
ORPHA:1335 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:90308 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Myocarditis, ... |
ORPHA:81 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis, Stroke |
ORPHA:268943 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abn... |
ORPHA:70578 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Tented upper lip vermilion, Dental crowding, Triangular mouth, High palate,... |
OMIM:620369 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Cyanosis, Congestive h... |
ORPHA:31826 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Colitis, Protracted diarrhea, Malabsorption |
OMIM:209920 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Esophageal varix, Hypertension, Pulmonary hypoplasia, Neonatal ... |
OMIM:263200 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs, Cleft palate |
ORPHA:2145 |
Orofaciodigital Syndrome Viii |
|
Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate |
OMIM:300484 |
Raine Syndrome |
|
Natal tooth, Death in infancy, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, ... |
OMIM:259775 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Anteverted nares, Aggressive behavior, Cleft upper lip, Bulbous nose, Wide nasal b... |
OMIM:300958 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs, Non-midline cleft lip, Cleft palate |
ORPHA:3429 |
Czeizel-Losonci Syndrome |
|
Tracheoesophageal fistula, High palate, Pulmonary hypoplasia |
ORPHA:2437 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Mosaic Trisomy 1 |
|
Thick lower lip vermilion, Orofacial cleft, Cleft palate, Coarctation of aorta, Short upper lip, ... |
ORPHA:1692 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Long philtrum |
ORPHA:932 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Sudden cardi... |
ORPHA:537 |
Atelosteogenesis Type I |
|
Malrotation of colon, Pulmonary hypoplasia, Cleft palate |
ORPHA:1190 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Vomiting |
OMIM:619510 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Thin upper lip vermilion, Deep philtrum, ... |
ORPHA:329178 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Abnormal lung morphology, Patent ductus arteriosus, Coarctation of... |
ORPHA:1708 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Prematu... |
OMIM:601349 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Cleft palate, Underdeveloped nasal alae |
OMIM:611867 |
Bamforth-Lazarus Syndrome |
|
Polyhydramnios, Cleft palate |
ORPHA:1226 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Right aortic arch, Interru... |
OMIM:617478 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Abnormality of the tongue, Cleft palate, Orofacial cleft, High pal... |
ORPHA:2990 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Cleft palate, Respiratory insufficiency, Anomalous pulmonary venous return, Long philtrum |
ORPHA:2311 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Miscarriage, Pulmonary embolism |
ORPHA:82 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Chronic sinusitis |
OMIM:615636 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia |
OMIM:100800 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Non-midline cleft lip, Orofacial cleft, Cleft palate, Aplasia/Hypoplasia of the lungs, Wide mouth... |
ORPHA:2549 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Compulsive behaviors, Abnormal repetit... |
ORPHA:534 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation, Right aortic arch, Pulmonary artery hypoplasia, Interrupted inf... |
OMIM:616749 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Exaggerated cupid's bow, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggres... |
ORPHA:2131 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Intestinal malrotation, Patent ductus arteriosus, Partial anomalous pul... |
OMIM:619657 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... |
ORPHA:90362 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... |
OMIM:613751 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Thin vermilion border, Short philtrum, Oligohydramnios |
ORPHA:261304 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Heart murmur |
ORPHA:1867 |
Pai Syndrome |
|
Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m... |
ORPHA:1993 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... |
OMIM:175050 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Double Outlet Left Ventricle |
|
Cyanosis, Abnormal coronary artery course, Pulmonary artery stenosis, Tachypnea, Patent ductus ar... |
ORPHA:3427 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Patent ductus arteriosus, Cleft palate, Thin vermilion border, High palate, Pulmon... |
OMIM:614080 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... |
OMIM:619580 |
Meacham Syndrome |
|
Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary venous return, Conotruncal ... |
ORPHA:3097 |
Auriculocondylar Syndrome |
|
Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma... |
ORPHA:137888 |
Loeys-Dietz Syndrome 4 |
|
Broad uvula, Eosinophilic infiltration of the esophagus, Arterial tortuosity, High, narrow palate... |
OMIM:614816 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, High palate, Pulmonary hypoplasia |
ORPHA:314588 |
22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum, Abnormal dental enamel m... |
ORPHA:567 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Patent ductus ar... |
ORPHA:2712 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, High, narrow palate, Downturned corners of mouth, Respiratory fail... |
ORPHA:3015 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Abnormality of the pulmonary artery, Aganglionic megacolon |
ORPHA:895 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs, Long philtrum |
ORPHA:93298 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... |
ORPHA:392 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Bilateral cleft lip ... |
ORPHA:2003 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Cleft soft palate, Patent ductus arteriosus, Hypoxemia, Submuco... |
ORPHA:2282 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, High palate, Generalized edema |
OMIM:271225 |
Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Cleft palate |
OMIM:153200 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Rectal prolapse, Cyanosis |
OMIM:619793 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocardial infarction, Prematurely aged appearance, Hiatus hernia, Pulmonar... |
ORPHA:3342 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper lip morphology, Ab... |
ORPHA:2707 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia |
OMIM:614838 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration, Malabsorption |
OMIM:606824 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Stickler Syndrome, Type Ii |
|
Anteverted nares, Depressed nasal bridge, High, narrow palate, Pierre-Robin sequence, Cleft palat... |
OMIM:604841 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmona... |
OMIM:620025 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct... |
ORPHA:137675 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Abnormal lung lobation, Transposition of the great arteries, ... |
OMIM:208530 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Prematurely aged appearance, Poor wound healing, Progeroid facial appearanc... |
OMIM:123700 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs, Long philtrum |
ORPHA:93299 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Dehydration |
OMIM:212140 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Dehydration, Malabsorption |
ORPHA:213 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Ogden Syndrome |
|
Apnea, Deep philtrum, Ventricular tachycardia, High palate, Short philtrum, Supraventricular tach... |
OMIM:300855 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Chops Syndrome |
|
High, narrow palate, Patent ductus arteriosus, Anomalous pulmonary venous return, Downturned corn... |
OMIM:616368 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Median cleft lip, Abnormal oral mucosa morphology, High, narrow... |
ORPHA:2753 |
Atelosteogenesis Type Ii |
|
Bilateral cleft palate, Thin upper lip vermilion, Cleft palate, Pulmonary hypoplasia, Long philtr... |
ORPHA:56304 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Erythema, Thin vermilion ... |
OMIM:610015 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology |
ORPHA:2570 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Abnormal cerebral vascular morphology, Patent ductus arteriosus, Gingival o... |
ORPHA:363705 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the lungs, Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1263 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Jaundice... |
ORPHA:26793 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Chronic diarrhea, Villous atrophy, Ileus |
OMIM:304790 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Submucous cleft hard palate, Recu... |
OMIM:619314 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Edema, Tachypnea, Dehydration, Agitation, Cough, Oral aversion |
ORPHA:134 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakne... |
OMIM:613561 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Pulmonary hyp... |
OMIM:617925 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Submucous cleft hard palate, Cleft palate, Thick vermilion border, P... |
ORPHA:2671 |
Fontaine Progeroid Syndrome |
|
High, narrow palate, Anteriorly placed anus, Oligodontia, Microdontia, Neonatal death, Recurrent ... |
OMIM:612289 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Death in infancy, Jaundice, Respiratory insufficiency, Pulmonar... |
OMIM:208500 |
Q Fever |
|
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Abnormal vascular morphology, Myocarditi... |
ORPHA:781 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Propionic Acidemia |
|
Tachypnea, Apnea, Dehydration |
OMIM:606054 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapulmonary seques... |
OMIM:200995 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Dentinogenesis imperfecta, Respiratory distress |
ORPHA:166272 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, High palate, Tongue fasciculations, Respiratory insufficiency |
ORPHA:1145 |
Renal Agenesis |
|
Hypertension, Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdo... |
ORPHA:91387 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left ventricular dias... |
ORPHA:57777 |
Intestinal Botulism |
|
Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostomia, Dysphagia |
ORPHA:178481 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Ectodermal dysplasia, Hypodontia, Mic... |
OMIM:225060 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Dehydration |
ORPHA:27 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft |
OMIM:141400 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, Raynaud phenom... |
ORPHA:3260 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth |
ORPHA:93946 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Stomatitis, Pulmonary fibrosis |
OMIM:612852 |
Gaucher Disease, Type I |
|
Epistaxis, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary infiltrates, Hypertensi... |
OMIM:230800 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Abnormality of the dentition, Double outlet right ventricle with doubly... |
ORPHA:1596 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, My... |
ORPHA:221 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia, Protruding tongue |
OMIM:200600 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Orthostatic hypotension, Decreased adipose tissue around nec... |
OMIM:606721 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... |
ORPHA:45452 |
Digeorge Syndrome |
|
Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, High, narrow palate, Cle... |
OMIM:188400 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Bifid uvula, Cleft palate |
OMIM:606164 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Emphysema, Pulmonary fibrosis, Portal hypertension |
OMIM:620365 |
Pagod Syndrome |
|
Death in infancy, Sudden cardiac death, Pulmonary artery hypoplasia, Abnormal aortic morphology, ... |
ORPHA:991 |
Desmosterolosis |
|
Intestinal malrotation, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, Anom... |
ORPHA:35107 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, High palate, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Burn-Mckeown Syndrome |
|
Choanal atresia, Prominent nasal bridge, Cleft upper lip, Underdeveloped nasal alae, Bilateral ch... |
OMIM:608572 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Wheezing, Recurrent upper and lower respiratory tract infections, Dehydration, Cough |
ORPHA:171876 |
Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Respiratory insufficiency |
ORPHA:93274 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Dental malocclusion, Cleft palate, Downturned corners of mouth, Hi... |
OMIM:265000 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, High, narrow palate, Smooth philtrum, Telangiectasia |
OMIM:608799 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth, Dysphagia |
ORPHA:98805 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Thin upper lip vermilion, Carious teeth, ... |
ORPHA:177907 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
Cystic Fibrosis |
|
Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Re... |
OMIM:219700 |
Tetrasomy 9P |
|
Pericarditis, Juxtaductal coarctation of the aorta, Hyperactivity, Dental crowding, Abnormal dent... |
ORPHA:3310 |
Otopalatodigital Syndrome Type 2 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Pulmonary hypoplasia, Narrow mout... |
ORPHA:90652 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Recurrent respiratory infections, Dehydration |
OMIM:264350 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Cyanosis, Patent ductus arteriosus, High palate, Pulm... |
ORPHA:3304 |
Cholera |
|
Miscarriage, Tachypnea, Dehydration, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation |
ORPHA:173 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cle... |
ORPHA:63862 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft pal... |
OMIM:263520 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... |
OMIM:619377 |
17Q12 Microduplication Syndrome |
|
Self-injurious behavior, Polyhydramnios, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Dy... |
ORPHA:85443 |
Moebius Syndrome |
|
Respiratory distress, Abnormality of the dentition, High palate, Dysphagia, Bifid uvula |
OMIM:157900 |
Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Angioedema, Emphysema, Pleural effusion, Restrictive ventilatory defect, Cough, Small ve... |
ORPHA:36412 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Polydipsia, Spontaneous pneumothorax, Portal hypert... |
ORPHA:731 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... |
ORPHA:340 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Intestinal malrotation, Patent ductus arteriosus, Aplasia/Hypop... |
ORPHA:2970 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi... |
ORPHA:97214 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Heart block, Cleft palate, Duodenal stenosis, Anteriorly placed anus, Second degre... |
OMIM:617063 |
Tetraamelia Syndrome 1 |
|
Cleft upper lip, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Anal at... |
OMIM:273395 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Aggressive behavior |
OMIM:237310 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmona... |
OMIM:181000 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Intestinal malrotation, Portal hypertension, Patent ductus arteriosus, Pulmonary hypoplasia, Neon... |
OMIM:208540 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Cleft palate, Pulmonary hypoplasia, Hamartoma of tongue |
OMIM:616546 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Cyanosis, Internal hemorrhage, Prolonged prothrombin time, Gingiv... |
ORPHA:335 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Dental crowding, Anteverted nares, Prominent nasal bridge, Conical t... |
OMIM:612313 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormal lip morphology, Dysphagia, Bruxism |
ORPHA:93958 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Colitis |
OMIM:614700 |
Fryns Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upper lip, Esoph... |
OMIM:229850 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Posteriorly placed anus, Patent ductus a... |
OMIM:306955 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Bulbous nose, Pierre-Robin sequence, Cleft palate |
OMIM:619981 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, D... |
ORPHA:31204 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Cutis marmorata, Abnormal dental enamel morphology, Abnormal dental morpho... |
ORPHA:818 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Edema of the dorsum of feet, Edema of the dorsum of hands, Hy... |
ORPHA:544503 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Heterotaxy, Visceral, 6, Autosomal |
|
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Total anom... |
OMIM:614779 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co... |
OMIM:617303 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Smooth philtrum, Abnormality of the denti... |
OMIM:300968 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Dehydration |
OMIM:251000 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Spina bifida, Cleft palate |
ORPHA:957 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... |
OMIM:115470 |
Dend Syndrome |
|
Downturned corners of mouth, Dehydration, Long philtrum |
ORPHA:79134 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Jaundice, Dehydration, Oligohydramnios |
OMIM:208085 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Gastrointestinal stroma tumor, Vasculitis, Bronchiec... |
ORPHA:1572 |
Alg9-Cdg |
|
Thin upper lip vermilion, Villous atrophy, Tricuspid regurgitation, Asthma, Abnormal lung lobatio... |
ORPHA:79328 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Esophageal varix, Respiratory in... |
ORPHA:367 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Protruding tongue, Coarctation of aorta, Pulmonary hypoplasia, Long philtrum |
ORPHA:50945 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate |
OMIM:612290 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Respiratory tract infection, Myoc... |
ORPHA:36234 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Cleft lip, Patent ductus arteriosus, Dilated cardiomyopathy, Part... |
OMIM:619343 |
Shigellosis |
|
Pneumonia, Anorexia, Intestinal perforation, Ulcerative colitis, Dehydration, Urticaria, Paralyti... |
ORPHA:810 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Microglossia, Polyhydramnios, Narrow mouth |
ORPHA:990 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... |
OMIM:619632 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Edema, Dyspnea, Jaundice, Nasal flaring, Enterocolitis,... |
ORPHA:90051 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios |
ORPHA:1143 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose veins, Abnormality of the pulmo... |
ORPHA:33001 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal respiratory distress, Gingival overgrowth, Dehydration, Macroglossia, High palate, Oligo... |
ORPHA:96191 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Stillbirth, Pulmonary hypoplasia, Cleft upper lip |
OMIM:308050 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... |
ORPHA:805 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Jaundice, Hydrops fetalis, Dehydration, Stomatitis, Pul... |
ORPHA:79282 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:612336 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia, Polyhydramnios, Dehydration |
OMIM:616271 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Abnormal lung lobation, Self-mutilation, Bifid uvula, Death in infancy, Hyperact... |
OMIM:270400 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Anorexia, Edema, Jaundice, Tachypnea, Dehydration |
ORPHA:20 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, High palate, Pulmonary edema |
ORPHA:79330 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal bleeding, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion |
ORPHA:292 |
Holoprosencephaly 11 |
|
Cleft lip, Cleft palate |
OMIM:614226 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... |
OMIM:300048 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Stroke, Cerebral ischemia, Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Hypogeusia, Hyperte... |
OMIM:223900 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Edema, ... |
ORPHA:79404 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormality of the dentition, Respiratory insufficiency, Cleft palate, Res... |
ORPHA:536471 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Obsessive-compulsive trait, Polyhydramnios, Dysphagia |
OMIM:160900 |
Cardiac Diverticulum |
|
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Pulmonary artery stenosis, Pa... |
ORPHA:1686 |
Vacterl With Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Pulmonary hypoplasia, Anal atresia |
ORPHA:3412 |
Fetal Akinesia Deformation Sequence 1 |
|
High, narrow palate, Cleft palate, Stillbirth, High palate, Pulmonary hypoplasia, Narrow mouth, L... |
OMIM:208150 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Prominent superficial blood v... |
OMIM:619472 |
Lethal Congenital Contracture Syndrome 9 |
|
Thin upper lip vermilion, Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:616503 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Dysphagia, Hypertrophic cardiomyopathy, Paroxysmal bursts of laughter |
ORPHA:391428 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Dyspnea, Myocardit... |
ORPHA:809 |
Desmosterolosis |
|
Patent ductus arteriosus, Gingival fibromatosis, Alveolar ridge overgrowth, Cleft palate, Total a... |
OMIM:602398 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:611561 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dental enamel morphology, P... |
ORPHA:96263 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Polydipsia, Cyanosis, Central hypoventilation, Aggressive behavior, Celiac disea... |
ORPHA:293987 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Chronic diarrhea |
OMIM:606367 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dental enamel morphology, P... |
ORPHA:96264 |
Anophthalmia Plus Syndrome |
|
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ... |
ORPHA:1104 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Abnormal pleura morpholog... |
ORPHA:1764 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate,... |
OMIM:612863 |
Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Cleft palate |
OMIM:601355 |
Thanatophoric Dysplasia Type 1 |
|
Aplasia/Hypoplasia of the lungs, Excessive wrinkled skin, Patent ductus arteriosus, Respiratory i... |
ORPHA:1860 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Macroglossia, Prolonged neonatal jaundice |
ORPHA:226313 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Vomiting, Diarrhea, Steatorrhea |
OMIM:212065 |
Immunodeficiency 31C |
|
Villous atrophy, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussuscep... |
OMIM:614162 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Cleft palate |
ORPHA:2010 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Tooth malposition, Nasal flaring |
OMIM:268320 |
Meier-Gorlin Syndrome 4 |
|
Emphysema, Thick lower lip vermilion, Narrow mouth |
OMIM:613804 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous... |
ORPHA:745 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time, Tachycardia, Intestinal malrotation, Tracheomalacia, Patent ductus arter... |
OMIM:618280 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor, Dysphagia |
OMIM:207950 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Patent ductus arteriosus, Recurrent upper respira... |
OMIM:607143 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Delayed eruption of teeth, Aganglionic megacolon, Abnormality of the gingiv... |
ORPHA:798 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primar... |
ORPHA:438216 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal lung lobation, Orofacial cleft, Aplasia/Hypoplasia of the lungs, Narrow mouth, Anal atresia |
ORPHA:3301 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Bilateral trilobed lung, Intestinal malrotation, Patent ductus arteri... |
OMIM:270100 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Respiratory tract infection, Pulmonary embolism |
ORPHA:567548 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Dystonia-Deafness Syndrome 1 |
|
Pseudobulbar paralysis, Dysphagia, Cleft palate, Cleft upper lip |
OMIM:607371 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Anorexia, Malabsorption, Erythema, Hydrops fetalis, Dehydration, Death in childh... |
OMIM:557000 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Persistent cloaca |
ORPHA:1112 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... |
OMIM:602450 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Hematochezia, Pr... |
ORPHA:2070 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage, Carious teeth, Abnormal subcutaneous fat tissue distrib... |
ORPHA:357074 |
Neu-Laxova Syndrome 1 |
|
Swollen lip, Cleft upper lip, Patent ductus arteriosus, Thick lower lip vermilion, Yellow subcuta... |
OMIM:256520 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia, Anal atresia |
OMIM:271520 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Cleft palate |
OMIM:614120 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Thin vermilion border, High palate, Pulm... |
ORPHA:3404 |
Acrorenal-Mandibular Syndrome |
|
High palate, Pulmonary hypoplasia, Narrow palate |
OMIM:200980 |
Dpagt1-Cdg |
|
Prolonged QT interval, Aggressive behavior, Head-banging, Stroke-like episode, Intracranial hemor... |
ORPHA:86309 |
Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Patent ductus arteriosus, Submucous cleft hard ... |
OMIM:275210 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... |
OMIM:618780 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Thick vermilion border, Widely spaced teeth, Respiratory distress |
OMIM:617102 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Pulmonary embolism, Malabsorption, Abnormal intestine morphology, Budd-Ch... |
OMIM:226300 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Ascending tubular aorta aneurysm, Vascular tortuosity, Emphysem... |
OMIM:219100 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Cleft palate, High palate, Thick vermilion border, Narrow... |
OMIM:224690 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Dehydration |
OMIM:251110 |
Leptospirosis |
|
Respiratory distress, Pericarditis, First degree atrioventricular block, Anorexia, Jaundice, Reti... |
ORPHA:509 |
Mgat2-Cdg |
|
Respiratory distress, Abnormal bleeding, Dental crowding, Open mouth, Patent ductus arteriosus, R... |
ORPHA:79329 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... |
ORPHA:93259 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil... |
ORPHA:1973 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... |
ORPHA:505248 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Delayed eruption of teeth, Neonatal respiratory distress, Intestinal obstru... |
ORPHA:666 |
Dextrocardia |
|
Abnormal EKG, Meckel diverticulum, Intestinal malrotation, Abnormal lung lobation, T-wave inversi... |
ORPHA:1666 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
Vipoma |
|
Anorexia, Malabsorption, Respiratory insufficiency due to muscle weakness, Erythema, Dehydration,... |
ORPHA:97282 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Thick lower lip vermilion, Long philtrum |
OMIM:614407 |
Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Oral-pharyngeal dysphagia, Aggressive behavior, R... |
ORPHA:404448 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Natal tooth, Thin upper lip vermilion, Intestinal malrotation, Cleft upper lip, ... |
OMIM:249000 |
Achondrogenesis, Type Ii |
|
Edema, Polyhydramnios, Hydrops fetalis, Cleft palate, Stillbirth, Long philtrum |
OMIM:200610 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Cardiomyopathy, Dyspnea, Cough |
ORPHA:86812 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios, Long philtrum |
ORPHA:50810 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Pulmonary hypoplasia, Anal atresia, Rectovaginal fistula |
OMIM:236700 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Hypoplastic pulmonary veins, Absent pulmonary artery, Long philtrum, Dentinogen... |
OMIM:610682 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Dysphagia |
ORPHA:89844 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Pierre-Robin sequence, Cleft palate, Anterio... |
OMIM:217980 |
Hardikar Syndrome |
|
Cleft soft palate, Portal hypertension, Intestinal malrotation, Hematemesis, Celiac disease, Pulm... |
OMIM:301068 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia |
ORPHA:2309 |
Greenberg Dysplasia |
|
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:215140 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pyloric stenosis, Cleft palate, Pulmonary hypoplasia, Narrow mouth |
ORPHA:83617 |
Peters Plus Syndrome |
|
Intestinal fistula, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Patent du... |
ORPHA:709 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Pyloric stenosis, Recurrent pneumonia, Death in childhood, Dentinogenesis i... |
OMIM:613848 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Esophageal atresia, Deep philtrum, Cleft palate |
OMIM:610536 |
Interstitial Lung And Liver Disease |
|
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... |
OMIM:615486 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Fraser Syndrome |
|
Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Abnormal lung lobation, Dental... |
ORPHA:2052 |
Wolcott-Rallison Syndrome |
|
Jaundice, Ascites, Dehydration |
ORPHA:1667 |
Axial Mesodermal Dysplasia Spectrum |
|
Tracheoesophageal fistula, Gingival overgrowth, Aplasia/Hypoplasia of the lungs, Abnormal intesti... |
ORPHA:1834 |
Birk-Barel Syndrome |
|
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, High palate, Short philtrum, Dys... |
OMIM:612292 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Raynaud phenomenon, ... |
ORPHA:48435 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Cleft palate, Narrow palate, Anteriorly placed anus, Tooth agenesis, Narrow... |
ORPHA:1555 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Aggressive behavior, Patent ductus... |
ORPHA:17 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Pierre-Robin sequence, Cleft palate, Restrictive ventilatory defect, Bifid ... |
OMIM:183900 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Sudden cardiac death, Myocardial i... |
ORPHA:36426 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Campomelia, Cumming Type |
|
Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Cleft palate, Abnorma... |
ORPHA:1318 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Microsporidiosis |
|
Sinusitis, Pneumonia, Anorexia, Bronchitis, Dehydration, Rhinitis, Bronchiolitis, Glossitis |
ORPHA:2552 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tachypnea, Dehydration, Abnormal temper tantrums, Compulsive behaviors, Recurrent hand ... |
ORPHA:3008 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Aplasia... |
ORPHA:289 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... |
ORPHA:93260 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis |
OMIM:619239 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia, Cleft palate |
OMIM:156550 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Absent nasal sept... |
OMIM:610828 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery, Duodenal atresia |
ORPHA:1203 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Patent ductus arteriosus, Bloody diarrhea, Colitis, Hepatoblastoma, I... |
ORPHA:84064 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Lung abscess, Dyspnea, Congestive heart failure, Pleural empyema, Cough, ... |
ORPHA:67 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Dysphagia |
OMIM:620166 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, ... |
OMIM:620294 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Cyanosis, Apnea, Meconium ileus |
OMIM:617239 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Miscarriage, Pulmonary artery stenosis, Deep philtrum, Abnormal aorti... |
ORPHA:96334 |
Orofaciodigital Syndrome X |
|
Depressed nasal bridge, Cleft palate |
OMIM:165590 |
Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema |
ORPHA:3165 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Anorexia, Respiratory paralysis, Abnormal pattern of respi... |
ORPHA:79139 |
Pauci-Immune Glomerulonephritis |
|
Purpura, Dyspnea, Oral ulcer, Arteritis, Abnormality of the pulmonary vasculature, Cough, Small v... |
ORPHA:93126 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyanosis, Purpura |
ORPHA:343 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia, Dysphagia |
ORPHA:3299 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Dehydration |
OMIM:251100 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... |
OMIM:615710 |
Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Progeroid facial appearance, Paten... |
ORPHA:2962 |
Good Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Dysphagia, Cough |
ORPHA:169105 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Aggressive behavior, Wide mouth, Self-injurious behavior, T... |
ORPHA:2896 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Carious teeth, Dyspnea, Premature graying of hair, Interstitial pneumonitis, Budd-Chiari syndrome... |
OMIM:127550 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Cleft soft palate, Eosinophilic ... |
OMIM:615582 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... |
ORPHA:3092 |
Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Erythema, Multiple gastric polyps, Cardiomyopathy, Prolonged neonatal jaundice, Acroc... |
OMIM:225750 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem... |
ORPHA:743 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Respiratory tract infection, Dyspnea, Hypertension, Pleural effusion |
ORPHA:567546 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dyspnea, Rhinitis, Dehydration |
ORPHA:230 |
Dravet Syndrome |
|
Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Gingival overgrowth, Narrow palate, Anteriorly placed anus, Hi... |
OMIM:123790 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Vascular dilatation, Congestive heart failure, Pyloric ste... |
ORPHA:90349 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Emphysema, Aortic root aneurysm, High palate, Bradycardia, Generalized arter... |
OMIM:614437 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Arteria lusor... |
OMIM:212093 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Aganglionic megacol... |
OMIM:174300 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Acrocyanosis, Intern... |
ORPHA:49566 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Anorexia |
ORPHA:79242 |
Vacterl/Vater Association |
|
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Aplasia/Hypoplasia of the lungs, ... |
ORPHA:887 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Myocardial infarcti... |
ORPHA:740 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Dental crowding, Partial anomalous pulmonary venous return, Cleft palat... |
OMIM:301044 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypertonic dehydration |
OMIM:125800 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypertonic dehydration |
OMIM:304800 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest, Dehydration |
ORPHA:31824 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Palmoplantar ... |
OMIM:616482 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Keutel Syndrome |
|
Sinusitis, Miscarriage, Recurrent bronchitis, Deep philtrum, Hypertension, Pulmonary artery hypop... |
OMIM:245150 |
Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mou... |
ORPHA:1051 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... |
OMIM:192445 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Pulmonary artery atresia, Atrial fibrillation, Tetralogy of Fallot, Prolonged PR interval |
OMIM:108900 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopat... |
ORPHA:159 |
Criss-Cross Heart |
|
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Restlessness, Dilation of Virchow-Robin s... |
OMIM:615273 |
Pearson Syndrome |
|
Hydrops fetalis, Steatorrhea, Dehydration, Corneal stromal edema, Dysphagia, Cutaneous photosensi... |
ORPHA:699 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Diarrhea, Esophageal carcinoma, Enterocolitis, Abnormal intestine morphology |
ORPHA:391487 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Mungan Syndrome |
|
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Megaduodenum |
OMIM:611376 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Dental crowding, Cleft upper lip, Dental malocclusion, Cleft... |
OMIM:219000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Gastritis, Pneumonia, Malabsorption, Ileu... |
ORPHA:37042 |
Restrictive Dermopathy |
|
Natal tooth, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tubular aorta aneur... |
ORPHA:1662 |
Trichohepatoenteric Syndrome 1 |
|
Intractable diarrhea, Villous atrophy, Bifid uvula |
OMIM:222470 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Patent ductus arteriosus, Dental malocclusi... |
ORPHA:487796 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Perianal derm... |
OMIM:619573 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... |
ORPHA:117 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Pulmonary infiltrates, Vasospasm, Pleu... |
ORPHA:228123 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Tricuspid regurgitation, High, narrow palate, Heart murmur, Hypoxe... |
ORPHA:284979 |
Penile Agenesis |
|
Rectal fistula, Tracheoesophageal fistula, Bilateral lung agenesis, Pulmonary hypoplasia, Anal at... |
ORPHA:49 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate |
OMIM:243440 |
Neuroleptic Malignant Syndrome |
|
Pulmonary embolism, Dehydration, Agitation, Aspiration pneumonia, Dysphagia |
ORPHA:94093 |
Marfan Syndrome |
|
Spontaneous pneumothorax, Dental crowding, Open bite, Congestive heart failure, High, narrow pala... |
ORPHA:558 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Patent ductus arteriosus, Absent pulmonary artery, Cleft palate, Coarctation of ... |
OMIM:600460 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Lysosomal Acid Lipase Deficiency |
|
Jaundice, Esophageal varix, Dehydration, Steatorrhea, Pulmonary arterial hypertension, Ascites |
ORPHA:275761 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, High, narrow palate, Aortic isthmus hypoplasia, High palat... |
OMIM:180849 |
Listeriosis |
|
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Congestive heart failure, Myocarditis... |
ORPHA:533 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Esophageal atresia, Respiratory insufficiency, Ectopic anus, Pulmonary hypoplasi... |
ORPHA:93271 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Abnormal dental morphology, Abnormal dental enamel morphology, Abnorm... |
ORPHA:2092 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Branchial cyst, Respiratory distress, Hyperactivity, Thin upper lip ... |
ORPHA:508488 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Pulmonary artery stenosis, Partial anomalous pulmonary ... |
OMIM:190685 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide mouth, Unilateral clef... |
OMIM:619103 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Diarrhea, Colitis, Vomiting, Anoperineal fistula, Cro... |
OMIM:619381 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata, Dehydration |
OMIM:259900 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, ... |
ORPHA:2751 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal asphyxia, Dehydration |
ORPHA:90791 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Thin upper... |
OMIM:616268 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
ORPHA:254913 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Neonatal respiratory distress, Apnea, Carious teeth, R... |
OMIM:114290 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Cleft palate |
OMIM:613309 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, High, narrow palate, Dyspnea, Submucous cleft hard palate, Cleft palate, Re... |
ORPHA:2554 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Transient ischemic attack, Patent ductus arteriosus after birth at term... |
ORPHA:500150 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Emphysema, Cleft palate, Thick vermilion border, Tracheobroncho... |
OMIM:616835 |
Plague |
|
Abnormal bleeding, Respiratory distress, Tachycardia, Chapped lip, Anorexia, Hematemesis, Enteroc... |
ORPHA:707 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Velopharyngeal insufficiency, ... |
OMIM:614701 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Pul... |
OMIM:606170 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Intestinal polyposis, Peripheral arteri... |
ORPHA:774 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia, Arrhythmia |
ORPHA:3201 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Colonic stenosis, Dehydration, Intussusception, Acute co... |
ORPHA:90038 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Patent ductus arteriosus, Vo... |
ORPHA:210122 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... |
OMIM:618529 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... |
OMIM:305100 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Dysphagia, Aggressive behavior |
ORPHA:488627 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fascicu... |
OMIM:252010 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Doors Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentit... |
ORPHA:79500 |
Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, Dental crowding, Aggressive behavior, Cleft upper lip, High, narrow palate... |
OMIM:309800 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia |
ORPHA:223 |
Myasthenia Gravis |
|
Raynaud phenomenon, Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... |
ORPHA:95455 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy |
ORPHA:567983 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Delayed eruption of primary teeth, High, nar... |
OMIM:119600 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Zttk Syndrome |
|
Aortic regurgitation, Unilateral lung agenesis, Abnormality of the dentition, Patent ductus arter... |
OMIM:617140 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Patent... |
OMIM:117650 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Submucous cleft hard palate, Downturned corners of... |
OMIM:619680 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting |
ORPHA:79319 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Neonatal respiratory distress, Intestinal malrotation, Patent d... |
OMIM:312870 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Dental crowding, Ascending aorta hypoplasia, Deep philtrum, Facial erythema, Downturned co... |
OMIM:619503 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction, Jaundice, Stroke, Prolong... |
OMIM:274150 |
Chronic Graft Versus Host Disease |
|
Esophageal ulceration, Poor wound healing, Anorexia, Dyspnea, Wheezing, Pneumothorax, Xerostomia,... |
ORPHA:99921 |
Holoprosencephaly |
|
Median cleft lip, Bilateral cleft lip, Deep philtrum, Respiratory insufficiency, Aplasia/Hypoplas... |
ORPHA:2162 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Dental crowding, Anorexia, Pulmonary embolism, Esophageal varix, Int... |
ORPHA:394 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Polydipsia, Dehydration |
ORPHA:18 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition |
ORPHA:349 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Attention deficit hyperactivity disorder, Narrow mouth |
OMIM:164220 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Coarct... |
ORPHA:2780 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate |
ORPHA:99742 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus |
ORPHA:2519 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Downturned corners of mouth, Dehydration |
ORPHA:99885 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Enamel hypomineralization, Dehydration, Malabsorption |
ORPHA:47159 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Portal hypertension, Tachypnea, Esophageal varix, Abnormal pulmonary inte... |
OMIM:613658 |
Oculopalatocerebral Syndrome |
|
Cleft palate |
OMIM:257910 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Polyhydramnios, Jaundice, Ascites |
OMIM:617156 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411629 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Hig... |
ORPHA:457279 |
Marburg Hemorrhagic Fever |
|
Anorexia, Aggressive behavior, Nonproductive cough, Jaundice, Dehydration, Bruising susceptibilit... |
ORPHA:99826 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intestinal malrotation, Pulmonary artery stenosis, Patent ductus arteriosus... |
ORPHA:2255 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Anteriorly placed anus, Apneic episodes in infancy, Bifid uvula, Hype... |
OMIM:601803 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... |
ORPHA:275766 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Carious teeth, Excessive skin wrin... |
ORPHA:2834 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
U-Shaped upper lip vermilion, Thin vermilion border, High palate, Total anomalous pulmonary venou... |
OMIM:609945 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Aggressive behavior, Cleft upper lip, Patent ductus arteriosus, Dil... |
OMIM:607872 |
Hydrolethalus |
|
Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2189 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Vomiting, Constipa... |
OMIM:155310 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Prematurely aged appearance, Congestive heart failure, Dilatation of the ve... |
ORPHA:90348 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... |
OMIM:618106 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Marfan Syndrome |
|
Aortic regurgitation, Reduced subcutaneous adipose tissue, Tricuspid regurgitation, Dental crowdi... |
OMIM:154700 |
Infantile Krabbe Disease |
|
Respiratory distress, Cherry red spot of the macula, Respiratory failure, Abnormal heart rate var... |
ORPHA:206436 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Craniofacial Microsomia 1 |
|
Cleft upper lip, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Right aortic arch,... |
OMIM:164210 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Tricuspid regurgitation, Cleft soft palate, Patent ductus arteriosus, Aortic rupture, Mitral regu... |
OMIM:614557 |
Arthrogryposis, Distal, Type 3 |
|
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate |
OMIM:114300 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Cutis marmorata, Malabsorption, Abnormality of the dent... |
ORPHA:235 |
Native American Myopathy |
|
Cleft palate, Respiratory insufficiency, Downturned corners of mouth, High palate, Submucous clef... |
ORPHA:168572 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Recurrent respiratory infections, Chronic gastritis, Internal carotid artery dissection, Thin upp... |
OMIM:150230 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411634 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Asthma, Nasal flaring, Downturned corners of mouth... |
ORPHA:466943 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormality of the philtrum, Cleft upper lip, Cleft palate, Apl... |
ORPHA:280 |
Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Tongue thrus... |
OMIM:115150 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Accessory oral frenulum, Polyhydramnios, Supernumerary to... |
OMIM:617088 |
Cystinosis, Nephropathic |
|
Polydipsia, Dehydration, Dysphagia, Oral-pharyngeal dysphagia |
OMIM:219800 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Thin upper lip vermilion, Abnormality of the dentition, Patent ductus arter... |
ORPHA:480880 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Gingival fibromatosis, Dehydration |
ORPHA:652 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Abnormal cardiac ventricular function, Abnormal pleura morpholo... |
ORPHA:797 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Left ventricular noncompaction cardiomyopathy, Impulsivity, Aggressive behavior,... |
OMIM:300967 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Patent ductus arteriosus, Submucous cleft hard palate, Bifid uv... |
ORPHA:3047 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Cleft hard palate, Short philtrum, Abnormality of the pulmonary artery, Abnormal... |
ORPHA:261537 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate, Tetralogy of Fallot |
OMIM:222765 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
Gitelman Syndrome |
|
Respiratory distress, Prolonged QT interval, Salt craving, Raynaud phenomenon, Low-to-normal bloo... |
ORPHA:358 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Patent d... |
OMIM:300990 |
Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence |
OMIM:108300 |
Primary Hyperoxaluria |
|
Cutis marmorata, Abnormality of the dentition, Heart block, Raynaud phenomenon, Arterial occlusio... |
ORPHA:416 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Abnormality of the dentition, Asthma, Smooth tongue, Oligohydramnios |
ORPHA:3206 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Gingival ... |
ORPHA:3205 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Delayed eruption of teeth, Eruption failure, High palate, Long philtrum |
OMIM:166250 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Transient ischemic attack, Cyanosis... |
ORPHA:51608 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p... |
ORPHA:70591 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Cleft hard palate, Short philtrum, Abnormality of the pulmonary artery, Abnormal... |
ORPHA:261552 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Cleft soft palate, Aggressive behavior, Pyloric stenosis, Supernumerary too... |
ORPHA:268261 |
8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Submucous cleft hard palate, Abnormality of the dentition |
ORPHA:178303 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Miscarriage, Dehydration, Hypocapnia |
ORPHA:90794 |
Primary Fanconi Renotubular Syndrome |
|
Pulmonary fibrosis, Dehydration |
ORPHA:3337 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Narrow palate, ... |
OMIM:303600 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Polyhydramnios, Dehydration |
OMIM:241200 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... |
OMIM:619227 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Steatorrhea |
OMIM:260400 |
Mowat-Wilson Syndrome |
|
Dental crowding, Cleft hard palate, Widely spaced teeth, Abnormal repetitive mannerisms, Bifid uv... |
ORPHA:2152 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist... |
ORPHA:255210 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abnormal lymphatic vessel morphology, Hypopnea, Prolonged prothrombin time,... |
ORPHA:2330 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Myhre Syndrome |
|
Submucous cleft hard palate, Gingival cleft, Cleft palate, Hypertension, Abnormal lip morphology,... |
ORPHA:2588 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Submucous cleft hard palate, Aortic valve stenosis, Bifid uvula |
OMIM:617660 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Ascites, Prolonged neonatal jaundice |
OMIM:256810 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing... |
ORPHA:287 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Patent ductus arteriosus, Stroke |
OMIM:618188 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Pyloric stenosis, Pulmo... |
OMIM:235730 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Carious teeth, Velopharyngeal insufficiency, Submucous ... |
OMIM:223370 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Malabsorption, Venous insufficiency, Abnormality of the dentition, Abnormality of the ging... |
ORPHA:285 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
Cardiofaciocutaneous Syndrome |
|
Submucous cleft hard palate, Excessive wrinkled skin, High palate, Pulmonic stenosis, Long philtr... |
ORPHA:1340 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Epididymitis, Prostatitis |
OMIM:300755 |
Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:601678 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Abnormal dental enamel morphology, Dyspnea, Dilate... |
ORPHA:2556 |
Branchioskeletogenital Syndrome |
|
Abnormality of the dentition, Carious teeth, Submucous cleft hard palate, Premature loss of teeth... |
ORPHA:1299 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Submucous cleft hard palate, Compulsive behaviors, Attention deficit hypera... |
OMIM:618891 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Cleft soft palate, Cleft lip, Coarctation of aorta, High palate, Adenocarc... |
ORPHA:124 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Proboscis, Submucous cleft hard palate, Absent nasal septal cartilage,... |
OMIM:157170 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Raynaud phenomenon, Calcification of the aorta, Prolonged neonatal jaundice, Moy... |
ORPHA:51 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prematurely aged appearance, Abnormal dental enamel morphology, High, narrow palate, Submucous cl... |
ORPHA:2658 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, Solitary m... |
OMIM:301043 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
Marden-Walker Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Attention deficit hyperactivity diso... |
ORPHA:2461 |
Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Dorsocervical fat pad, Portal hypertension, Co... |
ORPHA:64 |
Meier-Gorlin Syndrome 5 |
|
Submucous cleft hard palate, Thick vermilion border, Long philtrum |
OMIM:613805 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Patent ductus arteriosus, Submucous clef... |
OMIM:300166 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia, Thin vermilion border, Long philtrum, Vascular tortuosity |
ORPHA:99646 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Pmm2-Cdg |
|
Respiratory distress, Thin upper lip vermilion, Pericarditis, Angina pectoris, Abnormal subcutane... |
ORPHA:79318 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Natal tooth, Prominent scalp veins, Thin upper lip vermilion... |
ORPHA:3455 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W... |
OMIM:619194 |
Coffin-Siris Syndrome 12 |
|
Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Heart murmur, High pal... |
OMIM:619325 |
Tolchin-Le Caignec Syndrome |
|
Submucous cleft hard palate, High palate, Attention deficit hyperactivity disorder, Narrow mouth |
OMIM:618971 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum |
OMIM:619321 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Thick vermilion border, ... |
ORPHA:2636 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Dyspnea, Jaundice, Hypertension, Stroke, Budd-Chiari s... |
ORPHA:447 |
Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Atten... |
OMIM:619539 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |