| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
| Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Centril... |
ORPHA:199241 |
| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Crypt hyperplasia, Villous atrophy |
OMIM:613217 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Centrilobular ground-glass opacification on pulmonary HRCT, Elevated jugular venous pressure, Pul... |
OMIM:265450 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary capillary hemangiomatosis, ... |
OMIM:234810 |
| Bronchopulmonary Dysplasia |
|
Emphysema, Atelectasis, Respiratory distress, Pulmonary sequestration, Dyspnea, Abnormal lung mor... |
ORPHA:70589 |
| Congenital Laryngomalacia |
|
Non-midline cleft of the upper lip, Cleft palate |
ORPHA:2373 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Protracted diarrhea, Villous atrophy |
OMIM:251850 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| Lactose Intolerance, Adult Type |
|
Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
| Pulmonary Arteriovenous Malformation |
|
Ischemic stroke, Abnormal bleeding, Myocardial infarction, Cyanosis, Pleural empyema, Transient i... |
ORPHA:2038 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... |
ORPHA:79 |
| Asbestos Intoxication |
|
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... |
ORPHA:2302 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis, Respiratory distress |
OMIM:619466 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Pulmonary arterial ... |
OMIM:265120 |
| Perching Syndrome |
|
Cyanosis, High palate, Dysphagia, Respiratory distress |
OMIM:617055 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Respiratory distress, Dyspnea, Choking episodes, Abnormal lung morphology, Recurrent... |
ORPHA:60032 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Pulmonary insufficiency, Abnormal pulmonary thoracic imaging finding, Transient pul... |
ORPHA:70588 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Apnea, Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
| Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Atelectasis, Bradycardia, Tachycardia, Cardiac arrest, Hypotension, Nasal flarin... |
ORPHA:70587 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Cleft palate, Microglossia |
ORPHA:141152 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea |
OMIM:267450 |
| Pleural Mesothelioma |
|
Abnormal cardiovascular system physiology, Respiratory distress, Pleural effusion, Dyspnea, Obstr... |
ORPHA:50251 |
| Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, Microvillus inclusions... |
OMIM:619445 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax |
OMIM:262850 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Acute Interstitial Pneumonia |
|
Ground-glass opacification, Cyanosis, Atelectasis, Hypertension, Pleural effusion, Parenchymal co... |
ORPHA:79126 |
| Bronchogenic Cyst |
|
Bronchogenic cyst, Abnormal stomach morphology, Abnormal pulmonary thoracic imaging finding, Atel... |
ORPHA:2357 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy |
OMIM:615863 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Chronic diarrhea, Decreased small intestinal mucosa ... |
ORPHA:103907 |
| Familial Nasal Acilia |
|
Atelectasis, Respiratory distress, Dyspnea, Abnormal respiratory motile cilium morphology, Recurr... |
ORPHA:922 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Thin vermilion border, Cleft palate, Pulmonary hypoplasia |
ORPHA:2631 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Exertional dyspnea, Atelectasis, Right bundle branch block, Bronchiolitis, Dysphagia, Pulmonary f... |
ORPHA:254361 |
| Ciliary Dyskinesia, Primary, 21 |
|
Bronchiectasis, Recurrent pneumonia, Atelectasis |
OMIM:615294 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr... |
OMIM:614096 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... |
OMIM:616726 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates, Dyspnea |
ORPHA:64741 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Ground-glass opacification, Dyspnea |
ORPHA:60026 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Crazy paving pattern, Death in infancy, ... |
OMIM:610921 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Exertio... |
OMIM:187300 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia, Absent uvula |
OMIM:616531 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit |
OMIM:119300 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Generalized abnormality of skin, Hypersensitivity pneumonitis, Abnormal pulmonary thoracic imagin... |
ORPHA:2902 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| High Altitude Pulmonary Edema |
|
Anorexia, Pulmonary edema, Pulmonary opacity, Dyspnea, Hypoxemia, Orthopnea, Tachycardia, Tachypn... |
ORPHA:330012 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Cleft palate, Ankyloglossia |
OMIM:303400 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| C1Q Deficiency 2 |
|
Facial erythema, Atelectasis, Recurrent lower respiratory tract infections, Oral ulcer, Vasculiti... |
OMIM:620321 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Cleft palate, Pulmonary hypoplasia, Neonatal death |
OMIM:615524 |
| Immunodeficiency 95 |
|
Ground-glass opacification, Respiratory distress, Recurrent viral upper respiratory tract infecti... |
OMIM:619773 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:615872 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Neonatal death, Pulmonary hypoplasia, Pulmonary arterial hypertension |
OMIM:619003 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infection... |
OMIM:263000 |
| Idiopathic Pulmonary Fibrosis |
|
Ground-glass opacification, Pulmonary insufficiency, Abnormal pulmonary interstitial morphology, ... |
ORPHA:2032 |
| Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis |
ORPHA:718 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Stillbirth, Abnormal lung morphology, Congenital malformation of the great arteries, Cleft palate |
ORPHA:294975 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ground-glass opacification, Atelectasis, Respiratory distress, Parenchymal consolidation, Elevate... |
OMIM:610978 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite |
OMIM:119540 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Ground-glass opacification, Respiratory distress, Intraalveolar phospholipid accumulation, Nonspe... |
OMIM:610913 |
| Bowen-Conradi Syndrome |
|
Abnormal lung lobation, Orofacial cleft, Death in infancy |
ORPHA:1270 |
| Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Ground-glass opacification, Anorexia, Respiratory distress, Dyspnea, Parenchymal co... |
ORPHA:1302 |
| Primary Pulmonary Hypoplasia |
|
Pneumothorax, Cyanosis, Tachypnea, Hypoxemia, Cleft palate, Pulmonary hypoplasia, Apnea, Recurren... |
ORPHA:2257 |
| Tracheobronchopathia Osteochondroplastica |
|
Exertional dyspnea, Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurre... |
ORPHA:3348 |
| Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Respiratory distress, High palate, Death in infancy, Neonatal death |
OMIM:300219 |
| Megaepiphyseal Dwarfism |
|
Cleft palate |
OMIM:249230 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:3032 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
| 2q33.1 deletion syndrome |
|
Cleft palate, High palate |
DECIPHER:51 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Repeated pneumothoraces, Descending aortic dissection, Nodular pattern on pulmonary HRCT, Diffuse... |
OMIM:130050 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Cardiac arrest, Dysphagia, Abnormal pattern of respiration, Recurrent respi... |
ORPHA:77260 |
| Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Respiratory distress, Dyspnea, Hypoxemia, Addictive a... |
ORPHA:178320 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
| Congenital Lobar Emphysema |
|
Emphysema, Respiratory distress |
ORPHA:1928 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer |
OMIM:137215 |
| Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
| Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Dyspnea, Dif... |
ORPHA:79127 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis, Tented upper lip vermilion, Acrocyanosis |
ORPHA:896 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Dental crowding, High palate, Pulmonary hypoplasia |
OMIM:617468 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Tetralogy of Fallot |
ORPHA:3033 |
| Distal Duplication 14Q |
|
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:1705 |
| Idiopathic Bronchiectasis |
|
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Dyspnea, Res... |
ORPHA:60033 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Respiratory distress, Pleural effusion, Pulmonary arterial hypertension... |
ORPHA:2414 |
| Lactase Deficiency, Congenital |
|
Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Dyspnea, E... |
OMIM:612387 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Bloody diarrhea, Abnormal in... |
OMIM:619079 |
| Cleft Velum |
|
Oral-pharyngeal dysphagia, Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia |
ORPHA:99772 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Exertional dyspnea, Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortop... |
ORPHA:99050 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Palpebral edema, Swollen lip, Respiratory distress, Tongue edema, Angioedema, Pharyngeal edema, F... |
ORPHA:100057 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e... |
ORPHA:36238 |
| Scimitar Syndrome |
|
Bronchogenic cyst, Pulmonary sequestration, Left-to-right shunt, Interrupted inferior vena cava w... |
ORPHA:185 |
| Tonne-Kalscheuer Syndrome |
|
Widely spaced teeth, Narrow mouth, Downturned corners of mouth, Velopharyngeal insufficiency, Pul... |
OMIM:300978 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Pulmonary hypoplasia, Respiratory distress |
OMIM:616733 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Atele... |
OMIM:620233 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Exertional dyspnea, Left-to-right shunt, Supraventricular arrhythmia, Dyspnea, Pulmonary arterial... |
ORPHA:99105 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia, Dysphagia, Patent ductus arteriosus |
OMIM:616867 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Pneumonia, Recurrent r... |
OMIM:610910 |
| Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Hypoplastic pulmonary veins, Glossoptosis, Ankyloglossia, Cleft palate, ... |
OMIM:618021 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... |
ORPHA:99827 |
| Primary Ciliary Dyskinesia |
|
Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguus, Abnormal inferior ven... |
ORPHA:244 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:311895 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pattern of respiration, Pulmonary infiltrates, Abnormal pleura morphology |
ORPHA:724 |
| Interstitial Lung Disease 2 |
|
Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Elevated bronchoalveolar lavage flu... |
OMIM:178500 |
| Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Panacinar emphysema, Dyspnea, Bronchiectasis, Chronic bronchitis |
OMIM:613490 |
| Laryngotracheoesophageal Cleft |
|
Dyspnea, Choking episodes, Impaired oropharyngeal swallow response, Recurrent respiratory infecti... |
ORPHA:2004 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit |
OMIM:606713 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Cleft palate, Pulmonary hypoplasia, Microglossia, Median cleft upper lip |
OMIM:241800 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Respiratory distress, Subcutaneous hemorrhage, Hypoxemia, Pneumonia, Prolonged... |
ORPHA:238459 |
| Sprengel Deformity |
|
Cleft palate |
ORPHA:3181 |
| Tricuspid Atresia |
|
Transposition of the great arteries, Pulmonary artery atresia, Coarctation of aorta, Persistent l... |
ORPHA:1209 |
| Atelosteogenesis, Type Ii |
|
Stillbirth, Cleft palate, Pulmonary hypoplasia, Death in infancy |
OMIM:256050 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
| Congenital Tracheomalacia |
|
Pneumothorax, Cyanosis, Emphysema, Esophageal atresia, Patent ductus arteriosus, Intercostal retr... |
ORPHA:95430 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
| Auriculocondylar Syndrome 2A |
|
Short mandibular rami, Respiratory distress, Dental crowding, Mandibular condyle hypoplasia, Glos... |
OMIM:614669 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
| Absence Of The Pulmonary Artery |
|
Abnormal inferior vena cava morphology, Abnormal pulmonary thoracic imaging finding, Truncus arte... |
ORPHA:980 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Abnormality of the dentition, Aplasia/Hypoplasia of the lungs |
ORPHA:1548 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares, Cleft palate, Thin upper lip vermilion |
ORPHA:2015 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Foam cells, Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Hypoxemia, Ta... |
ORPHA:264675 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Bronchiolitis, Respiratory distress |
OMIM:615993 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Narrow mouth, Cleft palate, Pulmonary hypoplasia, Microglossia, Aglossia |
OMIM:202650 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Gingival fibromatosis, Gingival overgrowth, Dyspnea, Median cleft palate |
ORPHA:1832 |
| Neuralgic Amyotrophy |
|
Bifid uvula, Narrow mouth, Cleft palate, Acrocyanosis |
ORPHA:2901 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Generalized abnormality of skin, Atelectasis, Vascular dilatation, Delayed eruption of teeth, Abn... |
ORPHA:2314 |
| Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Presyncope, Cyanosis, Increased pulmonary vascular resistance, Exertional dyspnea, Supraventricul... |
ORPHA:99104 |
| Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... |
ORPHA:888 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Congestive heart failure, Cyanosis, Abnormality of blood circulation, Abnor... |
ORPHA:860 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Pulmonary opacity, Respiratory distress, Pleural effusion, Dyspnea, Bronchiectasis |
ORPHA:411703 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Emphysema, Pulmonary arterial hypertension |
ORPHA:1164 |
| Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... |
ORPHA:457083 |
| Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia |
OMIM:265150 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Dyspnea, Hemosiderin-laden macrophages in bronchoalve... |
OMIM:616414 |
| Bronchiolitis Obliterans |
|
Ground-glass opacification, Pneumonia, Dyspnea, Hypoxemia, Respiratory tract infection, Bronchiec... |
ORPHA:1303 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Facial erythema, Emphysema |
OMIM:618307 |
| Tetrasomy 5P |
|
Congestive heart failure, Respiratory distress, High palate, Pulmonary arterial hypertension, Pul... |
ORPHA:3309 |
| Microvillus Inclusion Disease |
|
Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Pulmonary hypoplasia |
OMIM:255320 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Pulmonary sequestration, Intestinal malrotation, Hypoxemia, Mitral stenosis,... |
ORPHA:2847 |
| Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Steatorrhea, Fat malabsorption, Increased fecal bile acid |
OMIM:613291 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Pulmonary artery atresia, Narrow mouth, Pulmonic stenosis, Intestinal malrota... |
ORPHA:3426 |
| Alg3-Cdg |
|
Coarctation of the descending aortic arch, Cardiomyopathy, High palate, Abnormal uvula morphology... |
ORPHA:79321 |
| X-Linked Centronuclear Myopathy |
|
Pneumonia, Recurrent respiratory infections, High palate, Respiratory distress |
ORPHA:596 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Pulmonary hypoplasia |
OMIM:601163 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Respiratory distress, Death in infancy, Pulmonary hypoplasia, Dentinog... |
OMIM:184260 |
| Secondary Short Bowel Syndrome |
|
Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility, Vomiting, Enterocolit... |
ORPHA:95427 |
| Developmental And Epileptic Encephalopathy 30 |
|
Death in infancy, Motor stereotypy, Respiratory distress |
OMIM:616341 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Congestive heart failure, Narrow mouth, Cardiomyopathy, High palate, Pulmonary hypoplasia, Dyspha... |
OMIM:616866 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
| Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia, Hypoxemia, Dyspnea, Respiratory distress |
ORPHA:140896 |
| Auriculocondylar Syndrome 4 |
|
Narrow mouth, Apnea, Cleft palate, Glossoptosis |
OMIM:620457 |
| Chylomicron Retention Disease |
|
Diarrhea, Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting |
OMIM:246700 |
| Serkal Syndrome |
|
Pulmonic stenosis, Orofacial cleft, Pulmonary hypoplasia, Malrotation of small bowel |
ORPHA:139466 |
| Congenital Myopathy 10A, Severe Variant |
|
Cleft palate, High palate, Dysphagia, Respiratory distress |
OMIM:614399 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Paradoxical respiration, High palate, Recurrent acute respiratory tract infection, Respiratory di... |
OMIM:620011 |
| Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Pulmonary hypoplasia |
ORPHA:93296 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus |
OMIM:601612 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... |
OMIM:106700 |
| Interstitial Lung Disease 1 |
|
Ground-glass opacification, Intralobular septal thickening, Nonspecific interstitial pneumonia, D... |
OMIM:619611 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate |
OMIM:600251 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Foam cells, Crazy paving pattern, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Cy... |
ORPHA:747 |
| Holoprosencephaly 4 |
|
Median cleft palate, Depressed nasal tip, Absent nasal septal cartilage, Median cleft upper lip, ... |
OMIM:142946 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Dilatation of celiac artery, Arteriovenous fistulas of celiac and mesenter... |
OMIM:610655 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal lung lobation, Tricuspid regurgitation, Death in infancy, Coarctation of aorta, Patent d... |
ORPHA:1120 |
| Choanal Atresia |
|
Choking episodes, Recurrent respiratory infections, Cyanosis, Respiratory distress |
ORPHA:137914 |
| Isotretinoin-Like Syndrome |
|
Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Aortic valve stenosis, Cleft... |
ORPHA:2306 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... |
OMIM:613854 |
| 1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Cleft palate, Pulmonary hypoplasia, Thick vermilion border |
ORPHA:250999 |
| Nipah Virus Disease |
|
Hypotension, Recurrent pharyngitis, Anorexia, Respiratory distress |
ORPHA:99825 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Duodenitis, Bloody diarrhea, Villous atrophy |
OMIM:614328 |
| Autosomal Recessive Amelia |
|
Orofacial cleft, Non-midline cleft of the upper lip, Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
| Anencephaly 2 |
|
Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate, Median cleft upper lip |
OMIM:619452 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Patent ductus arteriosus |
ORPHA:2978 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Short philtrum, Exaggerated cupid's bow, Pulmonary artery atresia, Intestinal malrotation, Pulmon... |
OMIM:618316 |
| Partial Atrioventricular Septal Defect |
|
Atrial flutter, Exertional dyspnea, Patent ductus arteriosus, Angina pectoris, Transient ischemic... |
ORPHA:1330 |
| Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis |
OMIM:178550 |
| Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pleural effusion, A... |
ORPHA:60041 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Neoplasm of the lung, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
| Multiple Osteochondromas |
|
Pneumothorax, Intestinal obstruction, Dysphagia, Pseudoaneurysm, Hemothorax |
ORPHA:321 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Recurrent lower respiratory tract infections, Reduced left ventricu... |
ORPHA:258 |
| Pulmonary Alveolar Microlithiasis |
|
Pneumothorax, Calcification of the aorta, Ground-glass opacification, Pleural thickening, Cyanosi... |
ORPHA:60025 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Portal hypertension, Cerebral berry aneurysm |
OMIM:210050 |
| Congenital Tufting Enteropathy |
|
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... |
ORPHA:92050 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Truncus Arteriosus |
|
Pulmonic stenosis, Transposition of the great arteries, Aortic regurgitation, Truncus arteriosus,... |
ORPHA:3384 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Lymphocytic interstitial pneumonia, Respiratory distress |
OMIM:245590 |
| Lethal Recessive Chondrodysplasia |
|
Edema, Polyhydramnios, Macroglossia, Respiratory distress |
ORPHA:1423 |
| Chitayat Syndrome |
|
Abnormal pulmonary interstitial morphology, Thick vermilion border, Recurrent respiratory infecti... |
OMIM:617180 |
| Stuve-Wiedemann Syndrome 2 |
|
Stillbirth, Congestive heart failure, Respiratory distress, Death in adolescence, Pulmonary arter... |
OMIM:619751 |
| Holzgreve Syndrome |
|
Cleft upper lip, Cleft palate |
OMIM:236110 |
| Ciliary Dyskinesia, Primary, 20 |
|
Absent outer dynein arms, Atelectasis, Pulmonary arterial hypertension, Persistent left superior ... |
OMIM:615067 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return |
OMIM:614433 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Cle... |
OMIM:611812 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia |
OMIM:178370 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Cleft palate, Cutaneous photosensitivity |
OMIM:616570 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Nasal polyposis, Bronchiectasis, Pne... |
OMIM:244400 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| 16P11.2P12.2 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Cleft palate |
ORPHA:261204 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Long philtrum, Dehydration, Dysphagia |
OMIM:618958 |
| Niemann-Pick Disease, Type B |
|
Abnormal pulmonary interstitial morphology, Bone-marrow foam cells, Dyspnea, Foam cells with lame... |
OMIM:607616 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Cleft palate, Pulmonary hypoplasia |
OMIM:312150 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Long philtrum, Pulmonary hypoplasia, Respiratory distress |
OMIM:617895 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Dilatation of the cerebral artery, Atelectasis, Exertional dyspnea, Thoracic aortic aneurysm, Res... |
ORPHA:365 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Death in infancy |
OMIM:258320 |
| Hereditary Angioedema Type 1 |
|
Edema of the dorsum of hands, Abnormal soft palate morphology, Respiratory distress, Dyspnea, Ton... |
ORPHA:100050 |
| Gaucher Disease, Perinatal Lethal |
|
Purpura, Everted upper lip vermilion, Respiratory distress, Petechiae, Narrow mouth, Everted lowe... |
OMIM:608013 |
| Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Esophageal Atresia |
|
Respiratory distress, Episodic respiratory distress, Bronchitis, Barrett esophagus, Esophagitis, ... |
ORPHA:1199 |
| Atrial Septal Defect, Ostium Primum Type |
|
Exertional dyspnea, Third heart sound, Right-to-left shunt, Dyspnea, Pulmonary arterial hypertens... |
ORPHA:99106 |
| Solar Urticaria |
|
Abnormal tongue morphology, Dyspnea, Angioedema, Urticaria, Periorbital edema, Edema, Abnormal li... |
ORPHA:97230 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft of the upper lip, Cleft palate, Lip pit |
ORPHA:1072 |
| Nemaline Myopathy 9 |
|
Polyhydramnios, Cleft palate, High palate |
OMIM:615731 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Neonatal death, Pulmonary hypoplasia |
OMIM:236500 |
| Bare Lymphocyte Syndrome, Type I |
|
Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis |
OMIM:604571 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... |
OMIM:619350 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Stillbirth, Truncus arteriosus, Hypertrophic cardiomyopathy, Aortic valve... |
OMIM:615415 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Thin vermilion border, Narrow mouth, Aplasia/Hypoplasia of the lungs |
ORPHA:1046 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Exertional dyspnea, Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, ... |
ORPHA:99103 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Pulmonary artery atresia, Left superior vena cava draining directly to the le... |
OMIM:613759 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Midgut malrotation, Shor... |
ORPHA:2326 |
| Avian Influenza |
|
Pneumothorax, Congestive heart failure, Ground-glass opacification, Respiratory distress, Miscarr... |
ORPHA:454836 |
| Bifid Uvula |
|
Cleft lip, Bifid uvula, Submucous cleft soft palate |
ORPHA:99771 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Transposition of the great arteries, Esophageal atresia, Anal atresia, Tracheoesophageal fistula,... |
OMIM:314390 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormality of the pulmonary artery, Death in infancy |
ORPHA:1354 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Purpura, Atelectasis, Bradycardia, Respiratory distress, Hypotension, Ecchymosis, Su... |
ORPHA:319213 |
| Fetal Akinesia Deformation Sequence |
|
Cleft palate, Pulmonary hypoplasia, Intestinal hypoplasia |
ORPHA:994 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Rectal prolapse, Death in childhood, Emphysema, Atelectasis, Vascular dilatation, Death in infanc... |
OMIM:613177 |
| Meacham Syndrome |
|
Stillbirth, Death in childhood, Transposition of the great arteries, Cardiac total anomalous pulm... |
OMIM:608978 |
| Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Widely spaced teeth, Short philtrum, High palate, Cleft upper lip, Cleft palate, Pulmonary hypopl... |
OMIM:612530 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Scleromyxedema |
|
Generalized abnormality of skin, Exertional dyspnea, Stroke, Narrow mouth, Transient ischemic att... |
ORPHA:167635 |
| Tularemia |
|
Abnormal pulmonary thoracic imaging finding, Tachycardia, Respiratory distress, Oral ulcer, Pleur... |
ORPHA:3392 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Rectovaginal fistula, Inflammation of the large intestine, Pulmonary hypoplasia, Dysphagia, Bronc... |
OMIM:619708 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Gastrointestinal hemorrhage, Atelectasis, Emphysema, Recurrent respiratory infectio... |
ORPHA:538 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Smooth philtrum |
OMIM:263210 |
| 15Q11.2 Microdeletion Syndrome |
|
Abnormal palate morphology, Total anomalous pulmonary venous return, Coarctation of aorta, Tetral... |
ORPHA:261183 |
| Diaphanospondylodysostosis |
|
Cleft palate, Respiratory distress |
ORPHA:66637 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate, Dysphagia |
OMIM:201550 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Dyspnea, Pulmona... |
OMIM:178600 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Recurrent bronchiolitis, Polyhydramnios, Dehydration |
OMIM:616069 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in childhood, Respiratory distress, Chylothorax, High palate, Death in infancy, Cerebral he... |
OMIM:620278 |
| Robin Sequence-Oligodactyly Syndrome |
|
Cleft palate, Glossoptosis, Abnormality of the dentition |
ORPHA:3104 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Tetraploidy |
|
Cleft palate, Short philtrum, Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
| Platyspondylic Dysplasia, Torrance Type |
|
Cleft palate, Pulmonary hypoplasia |
ORPHA:85166 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Advanced eruption of teeth, Short philtrum, Delayed eruption of teeth, Hyperactivity, Gingival ov... |
OMIM:619148 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Wide nasal bridge, Bulbous nose |
OMIM:612913 |
| Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Hypotension |
OMIM:267430 |
| Familial Cold Urticaria |
|
Polydipsia, Urticaria, Dehydration, Erythema |
ORPHA:47045 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Exertional dyspnea, Intraalveolar phospholipid accumulation, Dyspnea,... |
OMIM:614370 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Laryngotracheal Angioma |
|
Apnea, Cyanosis, Intercostal retractions, Respiratory distress |
ORPHA:137935 |
| Caudal Regression Syndrome |
|
Orofacial cleft, Hypertension, Impulsivity, Anal atresia, Pulmonary hypoplasia |
ORPHA:3027 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Thomas Syndrome |
|
Cleft upper lip, Cleft palate, Oligohydramnios |
ORPHA:3316 |
| Catifa Syndrome |
|
Tooth malposition, Delayed eruption of teeth, Increased overbite, Anteverted nares, Attention def... |
OMIM:618761 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Harlequin Ichthyosis |
|
Eclabion, Self-injurious behavior, Recurrent respiratory infections, Dehydration |
ORPHA:457 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Thin vermilion border, Death in childhood, Delayed eruption of teeth, Dehydration, Carious teeth,... |
OMIM:214150 |
| Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Villous atrophy |
OMIM:614602 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Hypertrophic cardiomyopathy, Cleft palate, Pulmonary hypoplasia, Unilateral cle... |
OMIM:616897 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Villous atrophy |
OMIM:600955 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow mouth, Neonatal death, Pulmonary hypoplasia |
OMIM:224410 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Short lingual frenulum, High palate, Microdontia, Fused teeth, Cleft palate, Pulmona... |
OMIM:614091 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Dysphagia, Respiratory distress |
ORPHA:254875 |
| Acalvaria |
|
Abnormal lung lobation, Cleft palate |
ORPHA:945 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Narrow mouth, High palate, Microglossia, Hypodontia |
OMIM:612776 |
| Whim Syndrome |
|
Atelectasis, Severe periodontitis, Parotitis, Bronchiectasis, Recurrent pneumonia, Respiratory tr... |
ORPHA:51636 |
| Congenital Short Bowel Syndrome |
|
Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, Congenital shortened sm... |
OMIM:615237 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary opacity,... |
ORPHA:217563 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Cleft palate, Pulmonary hypoplasia |
OMIM:253290 |
| Chand Syndrome |
|
Atelectasis, Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pi... |
ORPHA:1401 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal lung lobation, Narrow palate, Abnormal palate morphology, Anal atresia, Tooth agenesis, ... |
ORPHA:2063 |
| Extracranial Carotid Artery Aneurysm |
|
Arteritis, Arteriosclerosis, Vasculitis, Stroke, Hypertension, Total anomalous pulmonary venous r... |
ORPHA:494424 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia, Tricuspid regurgitation, Respiratory distress |
OMIM:620306 |
| Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Secretory diarrhea, Episodic vomiting, Villous atrophy |
OMIM:616050 |
| Cleft Lip/Palate |
|
Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Palate fistula, B... |
ORPHA:199306 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress |
ORPHA:91130 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Dyspnea, Aplasia/Hypoplasia of the tongue, Rec... |
ORPHA:2759 |
| Oligomeganephronia |
|
Polydipsia, Hypertension, Pulmonary venous occlusion, Pulmonary hypoplasia, Branchial cyst |
ORPHA:2260 |
| Diffuse Alveolar Hemorrhage |
|
Ground-glass opacification, Dyspnea, Hypoxemia, Pulmonary fibrosis, Pulmonary infiltrates, Pulmon... |
ORPHA:90060 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Neonatal death, Pulmonary hypoplasia, Respiratory distress |
OMIM:231680 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... |
OMIM:254210 |
| Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Dysphagia, Telangiectasia of the skin, Pulmonary fibrosis, Mucos... |
ORPHA:220402 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Diarrhea, Vomiting, Villous atrophy |
OMIM:602579 |
| Craniofacial Microsomia 2 |
|
Submucous cleft palate, Bifid uvula, Dermal sinus tract |
OMIM:620444 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Anteverted nares, Pierre-Robin sequence, Cleft palate, Depressed nasal bridge |
OMIM:184840 |
| Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia, Dysphagia |
ORPHA:171430 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus |
ORPHA:2184 |
| Autosomal Agammaglobulinemia |
|
Bronchiectasis, Recurrent respiratory infections, High palate, Dehydration |
ORPHA:33110 |
| X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft of the upper lip, Cleft palate, Prominent nasal bridge |
ORPHA:85273 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Congestive heart failure, Intercostal retractions, Third hear... |
ORPHA:1329 |
| Thanatophoric Dysplasia |
|
Pulmonary hypoplasia, Patent ductus arteriosus |
ORPHA:2655 |
| Diamond-Blackfan Anemia 20 |
|
Total anomalous pulmonary venous return |
OMIM:618313 |
| Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Short nose, Open bite, Microdontia, Tooth agenesis, Depressed nasal ... |
ORPHA:1248 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Dental crowding, Natal tooth, Pulmonary hypoplasia, Long philtrum, Thin upp... |
OMIM:145420 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Pulmonary hypoplasia |
OMIM:191830 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... |
OMIM:600376 |
| Farber Disease |
|
Atelectasis, Respiratory distress, Diffuse reticular or finely nodular infiltrations, CNS foam ce... |
ORPHA:333 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Alveolar capillary dyspla... |
OMIM:265380 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Natal tooth |
OMIM:217150 |
| Marden-Walker Syndrome |
|
High, narrow palate, High palate, Narrow mouth, Pyloric stenosis, Cleft palate, Pulmonary hypopla... |
OMIM:248700 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Metatropic Dysplasia |
|
Cleft palate, Aplasia/Hypoplasia of the lungs |
ORPHA:2635 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, High palate, Thin upper lip vermilion, Respiratory distress |
OMIM:615042 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal lower lip morphology, Abnormal aortic morphology, Tooth agenesis, Cleft palate, Tetralog... |
ORPHA:1166 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Choanal atresia, Tooth agenesis, Cleft palate, Abnormality of the sense of smell, Ap... |
ORPHA:1135 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Congestive heart failure, Purpura, Intestinal obstruction, Vasculitis, Hypertension,... |
ORPHA:183 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Repeated pneumothoraces, Aortic root aneurysm, Respiratory distress, Ascending tubul... |
ORPHA:536467 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Bilateral lung agenesis, Truncus arteriosus, Pulmo... |
OMIM:601186 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Dehydration, Respiratory distress |
ORPHA:79312 |
| Diprosopus |
|
Non-midline cleft of the upper lip, Cleft palate, Anencephaly |
ORPHA:1681 |
| Teebi Hypertelorism Syndrome 2 |
|
Short nose, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Cle... |
OMIM:619736 |
| Congenital Tracheal Stenosis |
|
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Respirato... |
ORPHA:141127 |
| Kimura Disease |
|
Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy |
ORPHA:482 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:3035 |
| Nephronophthisis 2 |
|
Pulmonary insufficiency, Hypertension, Pulmonary hypoplasia |
OMIM:602088 |
| Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Median cleft palate, Intestinal malrotation, Natal tooth, Pulmonary hypoplasia, Lobu... |
OMIM:269860 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Dyspnea |
ORPHA:48686 |
| Renal Agenesis, Bilateral |
|
Non-midline cleft of the upper lip, Abnormal intestine morphology, Tracheoesophageal fistula, Cle... |
ORPHA:1848 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Pulmonary edema, Atrial fibrillation, Supraventricular arrhythmia, Stroke, Dyspnea, Hypertrophic ... |
ORPHA:75249 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation |
ORPHA:91359 |
| Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary hypoplasia, Patent ductus arteriosu... |
OMIM:608149 |
| Fryns Syndrome |
|
Aganglionic megacolon, Abnormal aortic arch morphology, Non-midline cleft of the upper lip, Ectop... |
ORPHA:2059 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
High palate, Compulsive behaviors, Recurrent hand flapping, Cleft palate, Open mouth, Attention d... |
OMIM:620021 |
| Mercury Poisoning |
|
Anorexia, Respiratory distress, Hypertension, Dyspnea, Hypotension, Tachycardia, Interstitial pne... |
ORPHA:330021 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, High palate, Respiratory distress |
ORPHA:254864 |
| Congenital Myopathy 17 |
|
High palate, Cleft palate, Pulmonary hypoplasia, Respiratory tract infection, Tented upper lip ve... |
OMIM:618975 |
| Chronic Beryllium Disease |
|
Ground-glass opacification, Hypersensitivity pneumonitis, Dyspnea, Pulmonary fibrosis, Lymphocyti... |
ORPHA:133 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Central cyanosis, Ascending tubular ... |
OMIM:620067 |
| Microcephaly-Micromelia Syndrome |
|
Narrow mouth, Cleft palate, Pulmonary hypoplasia, Neonatal death |
OMIM:251230 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... |
OMIM:605809 |
| Matthew-Wood Syndrome |
|
Abnormal lung morphology, Duodenal stenosis, Pulmonary hypoplasia |
ORPHA:2470 |
| Isolated Dandy-Walker Malformation |
|
Cleft palate, Encephalocele |
ORPHA:217 |
| Relapsing Polychondritis |
|
Myocarditis, Large vessel vasculitis, Purpura, Atelectasis, Recurrent aphthous stomatitis, Vascul... |
ORPHA:728 |
| Central Diabetes Insipidus |
|
Polydipsia, Dehydration, Anorexia |
ORPHA:178029 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate |
ORPHA:2476 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Nasal polyposis, Bronchiectasis, Recurrent respiratory infections, Absent i... |
OMIM:606763 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
| Hypophosphatasia |
|
Emphysema, Abnormality of the dentition |
ORPHA:436 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pulmonary edema, Congestive heart failure, Left bundle branch block, Reduced left ventricular eje... |
OMIM:115197 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft of the upper lip, Cleft palate, Aplasia/Hypoplasia of the lungs |
ORPHA:3429 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Cleft palate, Aplasia/Hypoplasia of the lungs |
ORPHA:2145 |
| Lymphoid Interstitial Pneumonia |
|
Ground-glass opacification, Centrilobular ground-glass opacification on pulmonary HRCT, Dyspnea, ... |
ORPHA:79128 |
| Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Retinal arterial occlusion,... |
ORPHA:73263 |
| Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Facial erythema, Transudative pleural effusion, Hypoxem... |
ORPHA:284227 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Orofacial cleft, Short philtrum, High palate, Tracheoesophageal fistula, ... |
ORPHA:958 |
| Achondrogenesis |
|
Long philtrum, Aplasia/Hypoplasia of the lungs |
ORPHA:932 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Bilateral cleft palate, Non-midline cleft of the upper lip, Depressed nasal ridge, Tooth agenesis... |
ORPHA:2003 |
| Diaphanospondylodysostosis |
|
Cleft palate, Pulmonary hypoplasia, Respiratory distress |
OMIM:608022 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Diarrhea, High palate, Vomiting, Bifid uvula, Villous atrophy |
OMIM:601110 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Congestive heart failure, Long philtrum, Emphysema, Aortic regurgitation, Prematurely aged appear... |
OMIM:123700 |
| Unilateral Polymicrogyria |
|
Stroke, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Cyanosis, Pseudobulbar paralysis |
ORPHA:268943 |
| Pneumocystosis |
|
Exertional dyspnea, Acute infectious pneumonia, Pleural effusion, Multiple pulmonary cysts, Paren... |
ORPHA:723 |
| Meckel Syndrome, Type 6 |
|
Cleft upper lip, Cleft palate, Pulmonary hypoplasia, Bilobed right lung |
OMIM:612284 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Pulmonary hypoplasia, Respiratory distress |
OMIM:151210 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Congestive heart failure, Dyspnea, Hypertensive crisis, Pulmonary arterial hypertension, Carious ... |
ORPHA:220393 |
| Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Episodic respiratory distress, High palate, Apneic episodes precipitated b... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Episodic respiratory distress, High palate, Apneic episodes precipitated b... |
ORPHA:98914 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, High palate, Pulmonary hypoplasia, Long philtrum, Overriding aorta, Macroglossia |
OMIM:617022 |
| Parietal Foramina 1 |
|
Cleft upper lip, Cleft palate, Encephalocele |
OMIM:168500 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Fragile skin, Polyhydramnios, Neonatal death, Congenital pyloric atresia |
OMIM:612138 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Congestive heart failure, Cyanosis, Bradycardia, Respiratory distress, ST segmen... |
OMIM:261740 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Dyspnea, Dysphagia, Recurren... |
OMIM:211530 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Exertional dyspnea, High palate, Cyanosis |
ORPHA:98913 |
| Bamforth-Lazarus Syndrome |
|
Cleft palate, Bilateral choanal atresia |
OMIM:241850 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Widely spaced teeth, Wide mouth, Respiratory distress |
OMIM:300934 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Short mandibular rami, Orofacial cleft, Non-midline cleft of the upper lip, Ectopic anus, Cleft p... |
ORPHA:2549 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:187600 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Exertional dyspnea, Apneic episodes in infancy, Mixed total anomalous pulmonary venous connection... |
ORPHA:99125 |
| Tarp Syndrome |
|
Cyanosis, Glossoptosis, Cleft palate, Pulmonary hypoplasia, Abnormal duodenum morphology, Pierre-... |
ORPHA:2886 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow mouth, Miscarriage, Cleft palate, Pulmonary hypoplasia |
ORPHA:1865 |
| Thoracoabdominal Syndrome |
|
Transposition of the great arteries, Cleft upper lip, Cleft palate, Pulmonary hypoplasia, Patent ... |
OMIM:313850 |
| Hereditary Methemoglobinemia |
|
Lip discoloration, Exertional dyspnea, Cyanosis |
ORPHA:621 |
| Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery, Premature graying of hair, Aganglionic megacolon |
ORPHA:895 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Protein-losing enteropathy, Dehydration |
ORPHA:103910 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Narrow palate, Atelectasis, Retinal arterial tortuosity, Pulmonary artery atresia, Everted lower ... |
OMIM:620371 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... |
OMIM:192430 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Respiratory distress, High palate, Aspiration pneumonia, Recurrent pneumonia, Ap... |
ORPHA:314655 |
| Pentalogy Of Cantrell |
|
Orofacial cleft, Non-midline cleft of the upper lip, Cleft palate, Pulmonary hypoplasia, Tetralog... |
ORPHA:1335 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Oligodontia, Pulmonary sequestration, Thin upper lip vermilion, Patent ductus arteriosus |
OMIM:618330 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Solitary median maxillary central incisor, Patent ductus arteriosus, High palate, Pulmonic stenos... |
OMIM:619657 |
| Fanconi Renotubular Syndrome 5 |
|
Hypertension, Lung adenocarcinoma, Emphysema, Pulmonary fibrosis |
OMIM:618913 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, High palate, Hypertrophic cardiomyopathy, Attention deficit hyperactivity d... |
OMIM:619383 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Transposition of the great arteries, Right aortic arch, Pulmonary artery atresia, Total anomalous... |
OMIM:613751 |
| Achondrogenesis Type 1B |
|
Long philtrum, Aplasia/Hypoplasia of the lungs |
ORPHA:93298 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Lipoid pneumonia, Nocturnal hypoventilation, Dyspnea, Hypertrophic cardiomyopathy |
OMIM:620326 |
| Aortic Arch Interruption |
|
Exertional dyspnea, Blood pressure substantially higher in arms than legs, Aortopulmonary window,... |
ORPHA:2299 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1484 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, High, narrow palate, Truncus arteriosus, Abnormal aortic morphology, Clef... |
ORPHA:2516 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin vermilion border, Premature skin wrinkling, Smooth tongue, Pulmonary arterial hypertension, ... |
OMIM:601559 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Esophageal varix, Hypertension, Portal hypertension, Neonatal death, Pulmonary hypop... |
OMIM:263200 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Abnormality of the dentition, Dehydration, Everted lower lip ve... |
ORPHA:313 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Tricuspid regurgitation, Systolic heart murmur, Hypoxemia, Tachypnea, Anomalous pulmona... |
ORPHA:555874 |
| Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Recurrent viral upper respiratory tract infections, Everted lower lip vermilion, ... |
OMIM:616898 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Death in infancy, Systolic heart ... |
OMIM:617478 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Atelosteogenesis Type I |
|
Cleft palate, Pulmonary hypoplasia, Malrotation of colon |
ORPHA:1190 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Right aortic arch with mirror image branching, Pulmonary artery atresia |
OMIM:606217 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate |
OMIM:120433 |
| Raine Syndrome |
|
Gingival overgrowth, High palate, Narrow mouth, Microdontia, Protruding tongue, Death in infancy,... |
OMIM:259775 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Transposition of the great arteries, Interrupted aortic arch, Right aortic arch, Pulmonary artery... |
OMIM:616749 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Genitopatellar Syndrome |
|
Long philtrum, Apnea, Pulmonary hypoplasia, Delayed eruption of teeth |
ORPHA:85201 |
| Czeizel-Losonci Syndrome |
|
High palate, Pulmonary hypoplasia, Tracheoesophageal fistula |
ORPHA:2437 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Long philtrum, Thin upper lip vermilion, Respiratory distress |
OMIM:614741 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Dehydration |
ORPHA:33355 |
| Meacham Syndrome |
|
Abnormal lung lobation, Transposition of the great arteries, Pulmonary sequestration, Conotruncal... |
ORPHA:3097 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Polydipsia, Recurrent respiratory infections, Pulmonary infiltrates |
OMIM:619468 |
| Achondrogenesis Type 1A |
|
Long philtrum, Aplasia/Hypoplasia of the lungs |
ORPHA:93299 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate |
OMIM:183700 |
| Congenital Myopathy 22B, Severe Fetal |
|
Short philtrum, Triangular mouth, Respiratory distress, Dental crowding, Pleural effusion, High p... |
OMIM:620369 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia |
ORPHA:306550 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Anal atresia, Incomplete cleft of the upper lip, Cleft palate, Lobulated tongue, Pulm... |
OMIM:616300 |
| Fryns Microphthalmia Syndrome |
|
Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip |
OMIM:600776 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Abnormal aortic morphology, Patent ductus arteriosus, Atrioventri... |
ORPHA:392 |
| Cocaine Intoxication |
|
Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Agitatio... |
ORPHA:90068 |
| Mosaic Trisomy 1 |
|
Orofacial cleft, Thick lower lip vermilion, Pulmonary artery atresia, Short upper lip, Coarctatio... |
ORPHA:1692 |
| Heparin-Induced Thrombocytopenia |
|
Stroke, Cerebral ischemia, Pulmonary embolism, Myocardial infarction, Abnormal onset of bleeding |
ORPHA:3325 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology |
ORPHA:2570 |
| Synaptic Congenital Myasthenic Syndromes |
|
Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infections, Triangular mou... |
ORPHA:98915 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Hamartomatous polyposis, Aortic diss... |
OMIM:175050 |
| Meckel Syndrome 14 |
|
Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia, Cyanosis, Mitral regurgitation |
OMIM:619879 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Emphysema, Portal hypertension, Pulmonary fibrosis |
OMIM:620365 |
| Loeys-Dietz Syndrome 4 |
|
Pneumothorax, High, narrow palate, Emphysema, Arterial tortuosity, Aortic root aneurysm, Ascendin... |
OMIM:614816 |
| Idiopathic Pulmonary Hemosiderosis |
|
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Dyspnea, Heart murmur, Nodular p... |
ORPHA:99931 |
| Yellow Nail Syndrome |
|
Generalized abnormality of skin, Hypoplasia of lymphatic vessels, Pleuritis, Dyspnea, Neoplasm of... |
ORPHA:662 |
| Aspergillosis |
|
Ground-glass opacification, Hypersensitivity pneumonitis, Pleuritis, Stroke, Pleural effusion, Ab... |
ORPHA:1163 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1263 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism, Warfarin-induced skin necrosis |
OMIM:176860 |
| Brain-Lung-Thyroid Syndrome |
|
Abnormal pulmonary interstitial morphology, Respiratory distress, Hyperactivity, Compulsive behav... |
ORPHA:209905 |
| Ethylene Glycol Poisoning |
|
Pulmonary edema, Congestive heart failure, Prolonged QT interval, Gastritis, Atrial fibrillation,... |
ORPHA:31826 |
| Mosaic Trisomy 16 |
|
Meckel diverticulum, Abnormal lung morphology, Coarctation of aorta, Pulmonary hypoplasia, Wide m... |
ORPHA:1708 |
| Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Aplasia/Hypoplasia of the lungs, Bifid tongue |
ORPHA:2167 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
| Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:474 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Respiratory infections in early life, Miscarriage, Pulmonary hypoplasia |
ORPHA:96179 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High, narrow palate, Death in childhood, High palate, Protruding tongue, Prolonged neonatal jaund... |
OMIM:214100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Anteverted nares, Cleft upper lip, Bifid uvula, Cleft palate, Bulbous nose, Wide n... |
OMIM:300958 |
| Hereditary Hemorrhagic Telangiectasia |
|
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Intestinal polyposis, ... |
ORPHA:774 |
| Right Atrial Isomerism |
|
Abnormal lung lobation, Transposition of the great arteries, Pulmonary artery atresia, Total anom... |
OMIM:208530 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis, Heart murmur |
ORPHA:1867 |
| Double Outlet Left Ventricle |
|
Orofacial cleft, Abnormal right ventricular function, Pulmonary artery stenosis, Systolic heart m... |
ORPHA:3427 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Respiratory distress, High palate, Recurrent respiratory infections, Deep ph... |
ORPHA:329178 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in childhood, Intraalveolar phospholipid accumulation, Death in adolescence, Death in infan... |
OMIM:618042 |
| Orofaciodigital Syndrome Viii |
|
Bifid nasal tip, High palate, Cleft palate, Broad nasal tip, Median cleft upper lip |
OMIM:300484 |
| Refractory Celiac Disease |
|
Chronic diarrhea, Protein-losing enteropathy, Jejunitis, Villous atrophy |
ORPHA:398063 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Ileal atresia, Bidirectional shunt, Microcolon, Pulmonary hyp... |
OMIM:619351 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Tachypnea |
OMIM:618278 |
| Granulomatous Disease, Chronic, X-Linked |
|
Air bronchogram, Atelectasis, Rectal abscess, Pleural effusion, Recurrent pneumonia |
OMIM:306400 |
| Immunodeficiency 85 And Autoimmunity |
|
Vomiting, Chronic diarrhea, Villous atrophy |
OMIM:619510 |
| Microphthalmia, Syndromic 8 |
|
Orofacial cleft, Premature skin wrinkling, Cleft upper lip, Cleft palate, Widely-spaced maxillary... |
OMIM:601349 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Polyhydramnios, Respiratory distress |
OMIM:300580 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Premature graying of hair, Reticular pattern on pulmonary HRCT, Dyspnea, Usual interstitial pneum... |
OMIM:614742 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Cleft palate, Thin upper lip vermilion, Smooth philtrum |
OMIM:611867 |
| Bamforth-Lazarus Syndrome |
|
Polyhydramnios, Cleft palate |
ORPHA:1226 |
| Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Delayed... |
ORPHA:2712 |
| Hadziselimovic Syndrome |
|
Thick lower lip vermilion, High palate, Pulmonary artery atresia, Anal atresia, Tetralogy of Fall... |
OMIM:612946 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Respiratory distress, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa... |
OMIM:617300 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Dyspnea, Abnormal pleura morphology, Pulmonary fibrosis |
ORPHA:210136 |
| Adult Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Abnormal blood gas level, Vasculitis, Dyspnea, Hypotension, Hypoxemia, Pneumonia... |
ORPHA:70578 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Thin vermilion border, Anal stenosis, High palate, Anal atresia, Cleft palate, Pulmonary hypoplas... |
OMIM:614080 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Respiratory distress, Cardi... |
OMIM:613642 |
| Distal Triplication 15Q |
|
High palate, Pulmonary hypoplasia, Hypoplastic aortic arch, Patent ductus arteriosus |
ORPHA:314588 |
| Goodpasture Syndrome |
|
Ground-glass opacification, Cyanosis, Reticular pattern on pulmonary HRCT, Exertional dyspnea, Pa... |
OMIM:233450 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Bronchitis, Jaundice, Emphysema |
ORPHA:60 |
| Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Chronic diarrh... |
ORPHA:90362 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Gastrointestinal hemorrhage, Respiratory distress, Intestinal perforation, Tracheoeso... |
ORPHA:537 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Left ventricular outflow tract obstruction, Low-output congestive heart fai... |
ORPHA:308552 |
| Buerger Disease |
|
Vasculitis, Intermittent claudication, Raynaud phenomenon, Acrocyanosis, Arterial occlusion, Live... |
ORPHA:36258 |
| Klippel-Trénaunay Syndrome |
|
Congestive heart failure, Gastrointestinal hemorrhage, Venous insufficiency, Peripheral arteriove... |
ORPHA:90308 |
| 46,Xx Sex Reversal 4 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... |
OMIM:617480 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Long philtrum, Anomalous pulmonary venous return, Cleft palate |
ORPHA:2311 |
| Bronchial Neuroendocrine Tumor |
|
Anorexia, Abnormal pulmonary interstitial morphology, Dermatological manifestations of systemic d... |
ORPHA:97287 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Ground-glass opacification, Tachypnea, Intraalveolar phospholipid accumulation |
OMIM:300770 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Thin vermilion border, Oligohydramnios, Short philtrum, Respiratory distress |
ORPHA:261304 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Pulmonary arterial hypertension, Hypoxemia, Submucous cleft soft palate, Paten... |
ORPHA:2282 |
| Pai Syndrome |
|
Midline defect of the nose, Nasal polyposis, Abnormal oral frenulum morphology, Bifid uvula, Clef... |
ORPHA:1993 |
| Achondroplasia |
|
Respiratory distress, Pulmonary hypoplasia, Death in infancy |
OMIM:100800 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Emphyse... |
OMIM:181000 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Respiratory distress, Exaggerated cupid's bow, Dehydration, ... |
ORPHA:2131 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Tongue thrusting, Recurrent hand flapping, Impulsivity, Protruding tongue, Apnea, Motor stereotyp... |
OMIM:619580 |
| Lymphatic Malformation 5 |
|
Facial edema, Cleft palate, Predominantly lower limb lymphedema |
OMIM:153200 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Generalized edema, High palate, Respiratory distress |
OMIM:271225 |
| Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Emphysema, Pleural effusion, Dyspnea, Angioedema |
ORPHA:36412 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Prolonged QT interval, Tachycardia, Respiratory distress, Tachypnea, Ventricular fibril... |
ORPHA:26793 |
| Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
| Netherton Syndrome |
|
Intestinal atresia, Recurrent infection of the gastrointestinal tract, Villous atrophy |
OMIM:256500 |
| Prune Belly Syndrome |
|
Intestinal atresia, Anal atresia, Intestinal malrotation, Volvulus, Tetralogy of Fallot, Patent d... |
ORPHA:2970 |
| 46,Xy Sex Reversal 10 |
|
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... |
OMIM:616425 |
| 46,Xy Sex Reversal 8 |
|
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism |
OMIM:614279 |
| Desmosterolosis |
|
Narrow mouth, Intestinal malrotation, Cleft palate, Bifid uvula, Patent ductus arteriosus, Submuc... |
ORPHA:35107 |
| Orofaciodigital Syndrome Type 4 |
|
Orofacial cleft, High, narrow palate, Bilateral lung agenesis, Short philtrum, Rectovaginal fistu... |
ORPHA:2753 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Progeroid facial appearance, Decreased adipose tissue around neck, Orthostatic hypotension, Hyper... |
OMIM:606721 |
| Radio-Renal Syndrome |
|
High, narrow palate, Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Downturned cor... |
ORPHA:3015 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Death in infancy, Long p... |
ORPHA:534 |
| Restrictive Dermopathy 2 |
|
Rectal prolapse, Cyanosis, Respiratory distress |
OMIM:619793 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Renal Agenesis |
|
Hypertension, Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Everted lower lip vermilion, Cleft palate, Bifid uvula, Pulmonary hy... |
ORPHA:2671 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress |
ORPHA:238329 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial... |
ORPHA:137675 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Orofacial cleft, Aortic aneurysm, High palate, Cleft palate, Pulmonary hypoplasia, Long philtrum |
ORPHA:2990 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Narrow mouth,... |
ORPHA:137888 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplasia of the small intestine, Hypoplastic colon, Pulmonary hypoplasia, Extrapulmonary lobar ... |
OMIM:200995 |
| Carnitine Deficiency, Systemic Primary |
|
Dehydration, Respiratory distress |
OMIM:212140 |
| Arterial Tortuosity Syndrome |
|
Abnormal carotid artery morphology, Hypertension, Myocarditis, Dyspnea, Pulmonary artery stenosis... |
ORPHA:3342 |
| Joubert Syndrome 21 |
|
Apnea, Pulmonary hypoplasia, Dysphagia, Dyspnea |
OMIM:615636 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Total anom... |
OMIM:614779 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Short nose, Cleft palate, Broad nasal tip, Tented upper lip vermilion, Bruxism, Wide nasal bridge... |
OMIM:615716 |
| Lymphatic Malformation 12 |
|
Recurrent upper and lower respiratory tract infections, Pleural thickening, Death in adolescence,... |
OMIM:620014 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in childhood, Recurrent lower respiratory tract infections, Respiratory distress, Death in ... |
OMIM:618426 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Emphysema, Aortic regurgitation, Ascending tubular aorta aneurysm, Poor wound healing, Vascular t... |
OMIM:219100 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Protracted diarrhea, Colitis |
OMIM:209920 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Hyperte... |
ORPHA:567 |
| Gaucher Disease, Type I |
|
Abnormal pulmonary interstitial morphology, Hypertension, Dyspnea, Pulmonary arterial hypertensio... |
OMIM:230800 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
| Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Cleft palate |
OMIM:614402 |
| Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, High palate, Velopharyngeal insufficiency, Bifid uvula, Recurre... |
OMIM:619314 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Cleft palate, Pulmonary hypoplasia, Natal tooth, Neonatal death, Tetralogy of Fallo... |
OMIM:617925 |
| Ogden Syndrome |
|
Everted upper lip vermilion, Premature ventricular contraction, Dysphagia, Long philtrum, Narrow ... |
OMIM:300855 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections |
OMIM:242700 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Pulmonary edema, Abnormal bleeding, Fourth heart sound, Prolo... |
ORPHA:57777 |
| Glutamine Deficiency, Congenital |
|
Thin vermilion border, Bradycardia, Neonatal death, Apnea, Recurrent respiratory infections, Eryt... |
OMIM:610015 |
| Common Variable Immunodeficiency |
|
Purpura, Emphysema, Recurrent bronchitis, Vasculitis, Gastrointestinal stroma tumor, Bronchiectas... |
ORPHA:1572 |
| Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia, Protruding tongue |
OMIM:200600 |
| Alfadhel Syndrome |
|
Thin vermilion border, Short philtrum, Nasal flaring, Smooth philtrum, Aggressive behavior |
OMIM:620655 |
| Distal Deletion 15Q |
|
Abnormal aortic arch morphology, Short philtrum, Abnormality of the dentition, Coarctation of aor... |
ORPHA:1596 |
| Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Vasculitis, Dyspnea, Pulmonary arterial hypertension, Arterial stenosi... |
ORPHA:228116 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Chronic diarrhea, Ileus, Villous atrophy |
OMIM:304790 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Exertional dyspnea, Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissectio... |
ORPHA:91387 |
| Pagod Syndrome |
|
Abnormal aortic morphology, Pulmonary artery hypoplasia, Death in infancy, Pulmonary hypoplasia, ... |
ORPHA:991 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Antisynthetase Syndrome |
|
Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Pulmonary arterial... |
ORPHA:81 |
| Atelosteogenesis Type Ii |
|
Bilateral cleft palate, Cleft palate, Pulmonary hypoplasia, Long philtrum, Thin upper lip vermilion |
ORPHA:56304 |
| Q Fever |
|
Myocarditis, Abnormal vascular morphology, Abnormal pulmonary interstitial morphology, Purpura, A... |
ORPHA:781 |
| Chops Syndrome |
|
High, narrow palate, Aspiration pneumonia, Downturned corners of mouth, Patent ductus arteriosus,... |
OMIM:616368 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Aortic valve stenosis, Arrhythmia, Abnormal cerebral vascular morpho... |
ORPHA:363705 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Premature graying of hair, Gastric varix, Esophageal varix, Dyspnea, Portal hypertension, Usual i... |
OMIM:620367 |
| Propionic Acidemia |
|
Tachypnea, Apnea, Dehydration |
OMIM:606054 |
| Cat Eye Syndrome |
|
Rectal fistula, Anal stenosis, Meckel diverticulum, Total anomalous pulmonary venous return, Anal... |
OMIM:115470 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Wide nasal bridge, Cleft palate, Narrow mouth, Bulbous nose |
ORPHA:93946 |
| Odontochondrodysplasia |
|
Death in infancy, Respiratory distress, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:166272 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Cleft palate, Bifid nose, Cleft lip |
OMIM:614838 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Stomatitis, Respiratory distress, Pulmonary fibrosis |
OMIM:612852 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, Aortopulmonary window, Pulmonary arterial hypertension, Pulmonary artery hy... |
OMIM:620025 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress |
ORPHA:464453 |
| Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip |
OMIM:141400 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Thin vermilion border, High, narrow palate, Short philtrum, Respiratory distress, Dyspnea, Microd... |
ORPHA:2707 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Bifid uvula, Cleft palate, Respiratory distress |
OMIM:606164 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Villous atrophy |
OMIM:608776 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Dysphagia |
OMIM:150260 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Fontaine Progeroid Syndrome |
|
Everted lower lip vermilion, Microdontia, Death in infancy, Recurrent aspiration pneumonia, Long ... |
OMIM:612289 |
| Otopalatodigital Syndrome Type 2 |
|
Oligodontia, Glossoptosis, Narrow mouth, Cleft palate, Pulmonary hypoplasia, Pierre-Robin sequenc... |
ORPHA:90652 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Pulmonary artery atresia, Intestinal malrotation, Smooth philtrum, Long philt... |
ORPHA:401935 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Respiratory distress |
ORPHA:240085 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Agitation, Dehydration, Edema, Tachypnea, Oral aversion |
ORPHA:134 |
| Netherton Syndrome |
|
Urticaria, Recurrent respiratory infections, Emphysema, Dehydration |
ORPHA:634 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery fistula, High palate, P... |
OMIM:619343 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Intestinal malrotation, Cleft palate, Pulmonary hypoplasia, Microglossia... |
OMIM:263520 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Transposition of the great arteries, Hypoplastic aortic arch, Respiratory distress, Posteriorly p... |
OMIM:306955 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Arteriovenous malformation, Hamartomatous stomach polyps, Spontaneou... |
ORPHA:2929 |
| Al Amyloidosis |
|
Abnormal pulmonary interstitial morphology, Gastrointestinal hemorrhage, Abnormal salivary gland ... |
ORPHA:85443 |
| Smooth Muscle Dysfunction Syndrome |
|
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... |
OMIM:613834 |
| Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption |
ORPHA:309108 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Congestive heart failure, Emphysema, Premature skin wrinkling, Coronar... |
ORPHA:363618 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in childhood, Dehydration, Death in adolescence |
OMIM:560000 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Cleft palate, Pulmonary hypoplasia, Hamartoma of tongue |
OMIM:616546 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Portal hypertension, Aortic valve stenosis, Intestinal malrotation, Neonatal death, Pulmonary hyp... |
OMIM:208540 |
| Meier-Gorlin Syndrome 7 |
|
Heart block, Anal stenosis, High palate, Narrow mouth, Anal atresia, Cleft palate, Pulmonary hypo... |
OMIM:617063 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Short philt... |
OMIM:608572 |
| Lymphedema-Distichiasis Syndrome |
|
Abnormality of the pulmonary vasculature, Cleft upper lip, Cleft palate, Arrhythmia, Patent ductu... |
ORPHA:33001 |
| Idiopathic Hypereosinophilic Syndrome |
|
Congestive heart failure, Respiratory distress, Supraventricular arrhythmia, Pleural effusion, Tr... |
ORPHA:3260 |
| Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Episodic vomiting, Ileoileal intussusception, Secretory diarrh... |
OMIM:619377 |
| Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Thick lower lip vermilion, Emphysema |
OMIM:613804 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
| Prader-Willi Syndrome Due To Translocation |
|
Microdontia of primary teeth, Triangular-shaped open mouth, Abnormal temper tantrums, Respiratory... |
ORPHA:177907 |
| Anophthalmia Plus Syndrome |
|
Tessier cleft, Bilateral cleft palate, Non-midline cleft of the upper lip, Choanal atresia, Cleft... |
ORPHA:1104 |
| Cholera |
|
Miscarriage, Dehydration, Aspiration pneumonia, Tachypnea, Palmoplantar cutis laxa, Hyperventilation |
ORPHA:173 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Tetrasomy 9P |
|
Amelogenesis imperfecta, Inappropriate behavior, Jaundice, Abnormal number of permanent teeth, Sh... |
ORPHA:3310 |
| Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus |
ORPHA:93274 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... |
ORPHA:45452 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
High, narrow palate, Telangiectasia, Smooth philtrum, Respiratory distress |
OMIM:608799 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Hypoventilation, Gastrointestinal hemorrhage, Protein-losing enteropathy, Jaundice, H... |
ORPHA:731 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Schisis Association |
|
Anencephaly, Encephalocele, Anal atresia, Spina bifida, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:63862 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pulmonary insufficiency, Jaundice, Death in infancy, Pulmonary hypoplasia, Recurrent respiratory ... |
OMIM:208500 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Recurrent respiratory infections, Dehydration |
OMIM:264350 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial ... |
OMIM:185500 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Cleft palate, Tracheoesophageal fistula, Self-injurious behavior |
ORPHA:261272 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Atrophic gastritis, Colitis |
OMIM:614700 |
| Tetraamelia Syndrome 1 |
|
Anal atresia, Cleft upper lip, Cleft palate, Pulmonary hypoplasia, Peripheral pulmonary vessel ap... |
OMIM:273395 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Dysphagia, Hypertrophic cardiomyopathy, Respiratory distress |
OMIM:613561 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Death in childhood, Respiratory distress, Hypertrophic cardiomyopathy, ... |
OMIM:617303 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Supernumerary tooth, Advanced eruption of teeth, Aganglionic megacolon, P... |
ORPHA:818 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Eisenmenger Syndrome |
|
Exertional dyspnea, Aortopulmonary window, Left-to-right shunt, Hypoxemia, Heart murmur, Abnormal... |
ORPHA:97214 |
| Isolated Arrhinia |
|
Tessier cleft, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Absent nasal s... |
ORPHA:1134 |
| Moebius Syndrome |
|
Respiratory distress, High palate, Abnormality of the dentition, Bifid uvula, Dysphagia |
OMIM:157900 |
| Cardiac Diverticulum |
|
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Transp... |
ORPHA:1686 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left su... |
ORPHA:3304 |
| Congenital Fibrinogen Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Cyanosis, Gingival bleeding, Internal hemorrhage, ... |
ORPHA:335 |
| Desmosterolosis |
|
Gingival fibromatosis, Total anomalous pulmonary venous return, Cleft palate, Patent ductus arter... |
OMIM:602398 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Patent ductus arteriosus, Atrial reentry tachycardia, Ascending tubular aorta aneurysm, Pulmonary... |
OMIM:270100 |
| Blomstrand Lethal Chondrodysplasia |
|
Protruding tongue, Coarctation of aorta, Natal tooth, Pulmonary hypoplasia, Long philtrum |
ORPHA:50945 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Congestive heart failure, Emphysema, Vascular dilatation, Abnormal cardiac ventricu... |
ORPHA:90349 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Death in infancy, Respiratory distress |
OMIM:616974 |
| Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla |
OMIM:619632 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Edema of the dorsum of hands, Respiratory distress, Restlessness, Hypodontia, Edema of the dorsum... |
ORPHA:544503 |
| Glass Syndrome |
|
Long nose, Conical tooth, Hyperactivity, Dental crowding, Oligodontia, Gingival overgrowth, High ... |
OMIM:612313 |
| Dend Syndrome |
|
Long philtrum, Downturned corners of mouth, Dehydration |
ORPHA:79134 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Pulmonary edema, Agitation, Melena, Tachycardia, Petechiae, Capillary leak, Respirat... |
ORPHA:340 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Bulbous nose |
OMIM:619981 |
| Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
| Oromandibular Dystonia |
|
Bruxism, Abnormal lip morphology, Dysphagia, Respiratory distress |
ORPHA:93958 |
| Fryns Syndrome |
|
Stillbirth, Aganglionic megacolon, Esophageal atresia, Chylothorax, Meckel diverticulum, Anal atr... |
OMIM:229850 |
| Congenital Enterovirus Infection |
|
Myocarditis, Abnormal bleeding, Respiratory distress, Cardiomyopathy, Pleural effusion, Hypotension |
ORPHA:292 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal lung lobation, Orofacial cleft, Narrow mouth, Anal atresia, Aplasia/Hypoplasia of the lungs |
ORPHA:3301 |
| Digeorge Syndrome |
|
High, narrow palate, Right aortic arch with mirror image branching, Atelectasis, Short philtrum, ... |
OMIM:188400 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Triangular mouth, High palate, Narrow mouth, Downturned corners of mouth, Cleft palate, Pulmonary... |
OMIM:265000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Irregular respiration, High palate, Death in infancy, Respiratory distress |
OMIM:604377 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Abnormality of the dentition, Anal atresia, Bifid uvula, Cleft palate, Smoo... |
OMIM:300968 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Orofaciodigital Syndrome Type 5 |
|
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... |
ORPHA:2919 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Jaundice, Oligohydramnios, Dehydration |
OMIM:208085 |
| Acropectorovertebral Dysplasia |
|
High, narrow palate, Cleft palate, Spina bifida |
ORPHA:957 |
| Frontonasal Dysplasia 3 |
|
Tessier cleft, Cleft palate, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:613456 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Right aortic arch, Pulmonary artery atresia, Double aortic arch, Pulmonic stenosis, Tetralogy of ... |
OMIM:618780 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Cleft upper lip, Pulmonary hypoplasia, Erythema |
OMIM:308050 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Respiratory distress |
ORPHA:26792 |
| Legionnaires Disease |
|
Myocarditis, Anorexia, Jaundice, Recurrent pharyngitis, Hypotension, Abnormal lung morphology, Pe... |
ORPHA:549 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pulmonary fibrosis, Bronchiectasis, Pulmonary infiltrates, Ul... |
OMIM:618394 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Tachycardia, Capillary leak, Respiratory distress, Hypotension, Respiratory tract in... |
ORPHA:36234 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate |
ORPHA:2736 |
| Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate |
OMIM:612290 |
| Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Cystinosis |
|
Polydipsia, Dehydration, Motor stereotypy |
ORPHA:213 |
| Primary Dystonia, Dyt4 Type |
|
Dysphagia, Open mouth, Respiratory distress |
ORPHA:98805 |
| Nocardiosis |
|
Pneumothorax, Anorexia, Emphysema, Pleuritis, Respiratory distress, Pleural effusion, Dyspnea, Pe... |
ORPHA:31204 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Microdontia, Impulsivity, Eclabion, Wide mouth, Bruxism, Agitation, Excessive wrinkled skin, Shor... |
OMIM:619950 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
High palate, Respiratory distress |
ORPHA:1145 |
| Diabetic Embryopathy |
|
Transposition of the great arteries, Abnormal aortic morphology, Cleft palate, Tetralogy of Fallo... |
ORPHA:1926 |
| Duodenal Atresia |
|
Abnormality of the pulmonary artery, Duodenal atresia |
ORPHA:1203 |
| Mogs-Cdg |
|
Hypoventilation, Pulmonary edema, Respiratory distress, High palate, Apnea |
ORPHA:79330 |
| Vacterl With Hydrocephalus |
|
Anal atresia, Pulmonary hypoplasia, Esophageal atresia, Tracheoesophageal fistula |
ORPHA:3412 |
| Dextrocardia |
|
Abnormal lung lobation, Meckel diverticulum, Intestinal malrotation, Congenital malformation of t... |
ORPHA:1666 |
| Alg9-Cdg |
|
Abnormal lung lobation, Tricuspid regurgitation, Abnormal renal artery morphology, Bifid uvula, P... |
ORPHA:79328 |
| Vascular Hyalinosis |
|
Diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Polyhydramnios, Dehydration, Respiratory distress |
OMIM:616271 |
| Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios, Narrow mouth, Microglossia |
ORPHA:990 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Hypertension, Abnormal pleura morphology, Acrocyanosis, Tachycardia, Rec... |
ORPHA:1764 |
| Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Broad alveolar ridges, Dental crowding, Hypertension, Death in infancy, Intestinal... |
OMIM:270400 |
| Shigellosis |
|
Anorexia, Purpura, Acute colitis, Intestinal perforation, Dehydration, Urticaria, Pneumonia, Para... |
ORPHA:810 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Jaundice, Dehydration, Apnea, Edema, Tachypnea |
ORPHA:20 |
| Fetal Akinesia Deformation Sequence 1 |
|
Stillbirth, High, narrow palate, High palate, Narrow mouth, Cleft palate, Pulmonary hypoplasia, L... |
OMIM:208150 |
| Congenital Rubella Syndrome |
|
Abnormality of the pulmonary artery, Jaundice, Patent ductus arteriosus |
ORPHA:290 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration, Respiratory distress |
OMIM:251000 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Viss Syndrome |
|
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... |
OMIM:619472 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Tuberous Sclerosis Complex |
|
Generalized abnormality of skin, Aortic aneurysm, Hyperactivity, Respiratory distress, Hypertensi... |
ORPHA:805 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Congenital shortened small intestine, Vomiting, Intestinal malrota... |
OMIM:300048 |
| Isolated Right Ventricular Hypoplasia |
|
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef... |
ORPHA:439 |
| Intestinal Botulism |
|
Dyspnea, Dysphagia, Xerostomia, Death in infancy |
ORPHA:178481 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Dysphagia, Respiratory distress |
ORPHA:240103 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Purpura, Ga... |
ORPHA:809 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Respiratory distress, Stroke, Cerebral ischemia, Motor stereotypy |
ORPHA:927 |
| Myotonic Dystrophy 1 |
|
Obsessive-compulsive trait, Polyhydramnios, Dysphagia, Respiratory distress |
OMIM:160900 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Pulmonary artery aneurysm, Death in childhood, Emphysema, Arterial tortu... |
OMIM:614437 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Axial Mesodermal Dysplasia Spectrum |
|
Gingival overgrowth, Abnormal intestine morphology, Anal atresia, Tracheoesophageal fistula, Apla... |
ORPHA:1834 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia, Patent ductus arteriosus, Persistent cloaca |
ORPHA:1112 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Generalized abnormality of skin, Polyhydramnios, Respiratory distress, Esophageal varix, Ascites,... |
ORPHA:367 |
| Afibrinogenemia, Congenital |
|
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Death in childhood, Gingival bleeding, Death... |
OMIM:202400 |
| X-Linked Mandibulofacial Dysostosis |
|
Abnormality of the pulmonary artery, Branchial anomaly, High palate, Pulmonic stenosis |
ORPHA:1131 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Dysphagia, Restlessness, Cyanosis, Paroxysmal bursts of laughter |
ORPHA:391428 |
| Immunodeficiency 31C |
|
Protein-losing enteropathy, Diarrhea, Gastrointestinal eosinophilia, Intussusception, Villous atr... |
OMIM:614162 |
| Osteogenesis Imperfecta, Type Vii |
|
Hypoplastic pulmonary veins, Death in infancy, Dentinogenesis imperfecta, Long philtrum, Absent p... |
OMIM:610682 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia, Anal atresia |
OMIM:271520 |
| Hardikar Syndrome |
|
Hematemesis, Gastric varix, Jaundice, Patent ductus arteriosus, Cleft soft palate, Bilateral clef... |
OMIM:301068 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Head-banging, Stroke-like episode, Stereotypical body rocking, Pulmonary h... |
ORPHA:86309 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Arteria lusoria, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmonary ... |
OMIM:620294 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic diarrhea, Villous atrophy |
OMIM:606367 |
| Dermatomyositis |
|
Sinus tachycardia, Gastrointestinal stroma tumor, Pericarditis, Diffuse reticular or finely nodul... |
ORPHA:221 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short philtrum, Respiratory distress, Recurrent pneumonia, Patent ductus arteriosus, Thin upper l... |
OMIM:607143 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Gener... |
OMIM:602450 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Respiratory distress, High palate, Smooth philtrum, Long philtrum, Submucous... |
OMIM:612863 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Cleft palate, Hydranencephaly |
OMIM:601355 |
| Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Interrupted aortic arch, Scimitar anomaly, Intestinal malrotation, Pulm... |
OMIM:618280 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft palate, Anencephaly, Cleft upper lip |
OMIM:611561 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Oligohydramnios, Respiratory distress |
ORPHA:1143 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Diarrhea, Steatorrhea, Vomiting, Villous atrophy |
OMIM:212065 |
| Thanatophoric Dysplasia Type 1 |
|
Excessive wrinkled skin, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus |
ORPHA:1860 |
| Acrorenal-Mandibular Syndrome |
|
Narrow palate, High palate, Pulmonary hypoplasia |
OMIM:200980 |
| Mckusick-Kaufman Syndrome |
|
Anal atresia, Aganglionic megacolon, Pulmonary hypoplasia, Rectovaginal fistula |
OMIM:236700 |
| Restrictive Dermopathy 1 |
|
Stillbirth, Prominent superficial blood vessels, Narrow mouth, Natal tooth, Pulmonary hypoplasia,... |
OMIM:275210 |
| Neu-Laxova Syndrome 1 |
|
Stillbirth, Thick lower lip vermilion, Swollen lip, Transposition of the great arteries, Cleft up... |
OMIM:256520 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Pneumonia, Respiratory distress, Dehydration, Dyspnea, Esophageal stricture, Fragil... |
ORPHA:79404 |
| Schinzel-Giedion Syndrome |
|
Aganglionic megacolon, Short philtrum, Delayed eruption of teeth, Respiratory distress, Broad alv... |
ORPHA:798 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Bradycardia, High palate, Pulmonary arterial hypertension, Stroke-like episode |
OMIM:619272 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long upper lip, Ascending tubular aorta aneurysm, Narrow mouth, Abnormality of the dentition, Pro... |
ORPHA:536471 |
| Fabry Disease |
|
Anorexia, Congestive heart failure, Thick lower lip vermilion, Emphysema, Angina pectoris, Hypert... |
ORPHA:324 |
| Mgat2-Cdg |
|
Abnormal bleeding, Patent ductus arteriosus, Respiratory distress, Reflex asystolic syncope, Dent... |
ORPHA:79329 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Jaundice, Respiratory distress, Stomatitis, Glossitis, Dehydration, Smooth philtrum |
ORPHA:79282 |
| Leptospirosis |
|
Anorexia, Jaundice, Respiratory distress, Pleural effusion, Hypotension, Retinal hemorrhage, Peri... |
ORPHA:509 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring, Tooth malposition |
OMIM:268320 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Cleft palate, Oligodontia of primary teeth |
ORPHA:2010 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Abnormality of primary teeth, Incisor macrodontia, High palate, Tented uppe... |
ORPHA:438216 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Macroglossia, Respiratory distress |
ORPHA:226313 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Hypoventilation, Recurrent lower respiratory tract infections, Everted lower lip verm... |
ORPHA:293987 |
| Pauci-Immune Glomerulonephritis |
|
Small vessel vasculitis, Abnormality of the pulmonary vasculature, Purpura, Arteritis, Oral ulcer... |
ORPHA:93126 |
| Peters Plus Syndrome |
|
Long philtrum, Widely spaced teeth, Exaggerated cupid's bow, Abnormal pulmonary vein morphology, ... |
ORPHA:709 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Left ventricular diastolic dysfunction, Dysphagia, Respiratory distress |
OMIM:620375 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis |
OMIM:612336 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
| Dystonia-Deafness Syndrome 1 |
|
Cleft upper lip, Cleft palate, Dysphagia, Pseudobulbar paralysis |
OMIM:607371 |
| 48,Xxxy Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth, Cleft pal... |
ORPHA:96263 |
| 49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth, Cleft pal... |
ORPHA:96264 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
| Faciocardiorenal Syndrome |
|
Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia, Wide nasal bridge, Underdeveloped nasal ... |
ORPHA:1973 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Respiratory tract infection |
ORPHA:567548 |
| Meier-Gorlin Syndrome 1 |
|
Emphysema, Respiratory distress, High palate, Narrow mouth, Microdontia, Death in infancy, Cleft ... |
OMIM:224690 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Cutaneous photosensitivity, Angina pectoris, Vasculitis, Cardiomyopa... |
ORPHA:93672 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Widely spaced teeth, Thick vermilion border, Respiratory distress |
OMIM:617102 |
| Sepsis In Premature Infants |
|
Purpura, Jaundice, Petechiae, Dyspnea, Nasal flaring, Enterocolitis, Edema, Cyanosis |
ORPHA:90051 |
| Hydrolethalus Syndrome 2 |
|
Cleft palate, Anencephaly |
OMIM:614120 |
| Thyroid Lymphoma |
|
Dyspnea, Dysphagia, Respiratory distress |
ORPHA:97285 |
| Holoprosencephaly 7 |
|
Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na... |
OMIM:610828 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Intestinal lymphangiectasia, Recurrent lower respiratory tract infections... |
OMIM:226300 |
| Greenberg Dysplasia |
|
Abnormal lung lobation, Stillbirth, Neonatal death, Pulmonary hypoplasia |
OMIM:215140 |
| Ellis Van Creveld Syndrome |
|
Thin vermilion border, Emphysema, Delayed eruption of teeth, Conical incisor, Abnormality of the ... |
ORPHA:289 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Pulmonary artery atresia, Tetralogy of Fallot, Prolonged PR interval |
OMIM:108900 |
| Granulomatosis With Polyangiitis |
|
Pleuritis, Oral ulcer, Localized pulmonary hemorrhage, Retinal hemorrhage, Elevated bronchoalveol... |
OMIM:608710 |
| Orofaciodigital Syndrome Xix |
|
Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro... |
OMIM:620107 |
| Vacterl/Vater Association |
|
Non-midline cleft of the upper lip, Anal atresia, Tracheoesophageal fistula, Cleft palate, Aplasi... |
ORPHA:887 |
| Cryptococcosis |
|
Pneumonia, Respiratory distress, Pleural effusion, Dyspnea, Nodular pattern on pulmonary HRCT |
ORPHA:1546 |
| Meckel Syndrome, Type 1 |
|
Vascular dilatation, Patent ductus arteriosus, Anal atresia, Intestinal malrotation, Cleft upper ... |
OMIM:249000 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
| Neonatal Marfan Syndrome |
|
High, narrow palate, Emphysema, Aortic root aneurysm, Ascending tubular aorta aneurysm, Tricuspid... |
ORPHA:284979 |
| Pearson Marrow-Pancreas Syndrome |
|
Anorexia, Steatorrhea, Hydrops fetalis, Death in childhood, Dehydration, Erythema, Villous atrophy |
OMIM:557000 |
| Ulbright-Hodes Syndrome |
|
Pneumothorax, Thin vermilion border, Respiratory distress, Long upper lip, High palate, Narrow mo... |
ORPHA:3404 |
| Achondrogenesis, Type Ii |
|
Stillbirth, Hydrops fetalis, Polyhydramnios, Cleft palate, Long philtrum, Edema |
OMIM:200610 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Recurrent upper and lower respiratory tract infections, Dehydration |
ORPHA:171876 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Long philtrum, Thick lower lip vermilion, Acrocyanosis |
OMIM:614407 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Paroxysmal... |
ORPHA:444013 |
| Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia, Thin upper lip vermilion |
OMIM:616503 |
| Microlissencephaly-Micromelia Syndrome |
|
Long philtrum, Palpebral edema, Polyhydramnios, Respiratory distress |
ORPHA:50810 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Hypertension, Acrocyanosis, Tachycardia, Recurrent infections due to asp... |
OMIM:223900 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Orofacial cleft, Respiratory distress, Interrupted aortic arch, Hypertrophic cardiomyopathy, Coar... |
ORPHA:17 |
| Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Left aortic arch with cervical origin of the right subclavian artery, Valvular p... |
OMIM:212093 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Gingival overgrowth, High palate, Dehydration, Macroglossia, Oligohydramnios |
ORPHA:96191 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Widely spaced teeth, Solitary median maxillary central incisor, Short philtrum, Dental crowding, ... |
OMIM:301044 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Pulmonary arterial hyper... |
ORPHA:505248 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Cleft palate, Esophageal atresia, Deep philtrum, Respiratory distress |
OMIM:610536 |
| Adnp Syndrome |
|
Abnormal temper tantrums, Advanced eruption of teeth, Thick lower lip vermilion, Oral-pharyngeal ... |
ORPHA:404448 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Narrow mouth, Pyloric stenosis, Cleft palate, Pulmonary hypoplasia |
ORPHA:83617 |
| Postinfectious Vasculitis |
|
Anorexia, Palpable purpura, Ischemic stroke, Vascular dilatation, Hypertension, Cardiomyopathy, V... |
ORPHA:48435 |
| Pachyonychia Congenita |
|
Advanced eruption of teeth, Respiratory distress, Angular cheilitis, Natal tooth, Oral leukoplakia |
ORPHA:2309 |
| Osteogenesis Imperfecta |
|
Intestinal obstruction, Aortic regurgitation, Delayed eruption of teeth, Abnormality of dental co... |
ORPHA:666 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypertension, Pleural effusion, Dyspnea, Respiratory tract infection, Pulmonary embolism |
ORPHA:567546 |
| Holoprosencephaly 3 |
|
Abnormality of the nose, Solitary median maxillary central incisor, Proboscis, Single naris, Bifi... |
OMIM:142945 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Bradycardia, Pulmonic stenosis, Heart murmur, Mobitz I atrioventricular block, Aortic regurgitati... |
ORPHA:216694 |
| Methylmalonic Aciduria, Cblb Type |
|
Dehydration, Respiratory distress |
OMIM:251110 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Cardiac arrest, Dyspnea, Angioedema, Enanthema, Interstitial pneumonitis, Pulmonary ... |
ORPHA:139402 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature graying of hair, Premature loss of teeth, Dyspnea, Budd-Chiari syndrome, Carious teeth,... |
OMIM:127550 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Narrow palate, Respiratory distress, Narrow mouth, Tooth agenesis, Cleft palate, Anteriorly place... |
ORPHA:1555 |
| Campomelia, Cumming Type |
|
Hydrops fetalis, Prematurely aged appearance, Abnormal intestine morphology, Lymphedema, Death in... |
ORPHA:1318 |
| Poems Syndrome |
|
Plethora, Pleural effusion, Pulmonary arterial hypertension, Acrocyanosis |
ORPHA:2905 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Congestive heart failure, Intestinal obstruction, Acute colitis, Pleural empyema, P... |
ORPHA:67 |
| Wolcott-Rallison Syndrome |
|
Jaundice, Dehydration, Ascites |
ORPHA:1667 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... |
ORPHA:66529 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Agitation, Hyperactivity, Gingival overgrowth, Impulsivity, Apnea, Open mouth, Cyanosis |
OMIM:620423 |
| Keutel Syndrome |
|
Emphysema, Recurrent bronchitis, Miscarriage, Hypertension, Pulmonary artery hypoplasia, Pulmonic... |
OMIM:245150 |
| Coffin-Siris Syndrome 11 |
|
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... |
OMIM:618779 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, High palate, Anal atresia, Intestinal malrotation, Cleft palate |
ORPHA:93259 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Venous insufficiency, Warfarin-induced skin necrosis, Abnormal cerebral vascular morphol... |
ORPHA:745 |
| Osteogenesis Imperfecta, Type X |
|
Death in childhood, Respiratory distress, Pyloric stenosis, Recurrent pneumonia, Dentinogenesis i... |
OMIM:613848 |
| Cardiomyopathy, Dilated, 1S |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten... |
OMIM:613426 |
| Marfan Syndrome |
|
Congestive heart failure, High, narrow palate, Abnormal left ventricular function, Emphysema, Aor... |
ORPHA:558 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Widely spaced teeth, Short philtrum, Total anomalous pulmonary venous return, Downturned corners ... |
ORPHA:487796 |
| Folinic Acid-Responsive Seizures |
|
Apnea, Respiratory distress |
ORPHA:79097 |
| Ciliary Dyskinesia, Primary, 52 |
|
Transposition of the great arteries, Recurrent lower respiratory tract infections, Total anomalou... |
OMIM:620570 |
| Pyruvate Carboxylase Deficiency |
|
Anorexia, Abnormal temper tantrums, Dehydration, Compulsive behaviors, Recurrent hand flapping, A... |
ORPHA:3008 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Abnormal pulmonary interstitial morphology, Respiratory distress, Narrow mouth, Fragile skin, Rec... |
OMIM:614748 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Submucous cleft hard palate, Bifid uvula, Hyperactivity |
OMIM:619239 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Methylmalonic Aciduria, Cbla Type |
|
Dehydration, Respiratory distress |
OMIM:251100 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Death in childhood, Cleft upper lip, Coarctation of aorta, Cleft palate, Tetralogy of Fallot, Pat... |
OMIM:600460 |
| Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Cleft palate, Emphysema, Thick vermilion border |
OMIM:616835 |
| Long Qt Syndrome 13 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... |
OMIM:613485 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Erythema, Dyspnea, Dysphagia, Abnormal pleura morphology, Recurrent ... |
ORPHA:36426 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Respiratory distress |
ORPHA:89844 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Death in childhood, Respiratory distress |
OMIM:615597 |
| Eosinophilic Fasciitis |
|
Edema, Muscular edema, Acrocyanosis |
ORPHA:3165 |
| Syndromic Diarrhea |
|
Intractable diarrhea, Villous atrophy, Gastritis, Bloody diarrhea, Patent ductus arteriosus, Hepa... |
ORPHA:84064 |
| Orofaciodigital Syndrome X |
|
Cleft palate, Depressed nasal bridge |
OMIM:165590 |
| Focal Dermal Hypoplasia |
|
Abnormality of the pulmonary vasculature, Erythema, Abnormal dental enamel morphology, Open bite,... |
ORPHA:2092 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, High palate, Death in childhood, Respiratory distress |
OMIM:220110 |
| Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
| Loeys-Dietz Syndrome 5 |
|
Cleft soft palate, Aortic root aneurysm, High palate, Eosinophilic infiltration of the esophagus,... |
OMIM:615582 |
| Dravet Syndrome |
|
Obsessive-compulsive trait, Impulsivity, Cyanotic episode |
ORPHA:33069 |
| Birk-Barel Syndrome |
|
Short philtrum, High palate, Reduced subcutaneous adipose tissue, Bifid uvula, Submucous cleft so... |
OMIM:612292 |
| Fraser Syndrome |
|
Abnormal lung lobation, Orofacial cleft, Anal stenosis, Dental crowding, Ectopic anus, High palat... |
ORPHA:2052 |
| Japanese Encephalitis |
|
Anorexia, Pulmonary edema, Respiratory distress, Abnormal pattern of respiration, Irregular respi... |
ORPHA:79139 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left superior vena cava draining to coronary sinus, Partial anomalous pulmonary venous return, Hy... |
OMIM:619702 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Cardiomyopathy, Dyspnea, Respiratory distress |
ORPHA:86812 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Non-midline cleft of the upper lip, Cleft palate, Pulmonary artery atresia, Tetralogy of Fallot |
ORPHA:1908 |
| Kniest Dysplasia |
|
Cleft palate, Respiratory distress |
OMIM:156550 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Purpura, Recurrent aphthous stomatitis, Urticaria, Acrocyanosis, Erythema |
ORPHA:343 |
| Cystic Echinococcosis |
|
Abnormal pulmonary thoracic imaging finding, Jaundice, Abnormal subpleural morphology, Urticaria,... |
ORPHA:400 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, High palate, Anal atresia, Intestinal malrotation, Cleft palate |
ORPHA:93260 |
| N-Acetylglutamate Synthase Deficiency |
|
Anorexia, Tachypnea, Aggressive behavior, Respiratory distress |
OMIM:237310 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal jugular vein... |
ORPHA:1677 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Pitt-Hopkins Syndrome |
|
Abnormal palate morphology, Aganglionic megacolon, Aggressive behavior, Short philtrum, Tooth mal... |
ORPHA:2896 |
| Down Syndrome |
|
Aganglionic megacolon, Patent ductus arteriosus, Anal atresia, Protruding tongue, Pulmonary arter... |
OMIM:190685 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Congestive heart failure, Exertional dyspnea, Aortic regurgitatio... |
ORPHA:3092 |
| Tetanus |
|
Bradycardia, Respiratory distress, Hypertension, Dysphagia, Tachycardia, Tachypnea |
ORPHA:3299 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Arteriovenous malformation, Esophageal varix, Pulmonary artery atres... |
ORPHA:974 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Pierre-Robin sequence, Bifid uvula, Cleft palate, Respiratory distress |
OMIM:183900 |
| Eosinophilic Gastroenteritis |
|
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Vom... |
ORPHA:2070 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tachypnea, Dilated cardiomyo... |
OMIM:614299 |
| Necrotizing Enterocolitis |
|
Edema, Apnea, Ascites, Cyanosis |
ORPHA:391673 |
| Encephalopathy, Ethylmalonic |
|
Petechiae, Acrocyanosis, Death in infancy |
OMIM:602473 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Triangular mouth, Cleft soft palate, Dental crowding, Oligodontia, Gingival overgrowth, Abnormali... |
OMIM:616331 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Narrow palate, Respiratory distress, Gingival overgrowth, High palate, Narrow mouth, Bifid uvula,... |
OMIM:123790 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Ritscher-Schinzel Syndrome 2 |
|
Short philtrum, High palate, Protruding tongue, Intestinal malrotation, Pulmonary artery hypoplas... |
OMIM:300963 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormal aortic arch morphology, Short philtrum, Miscarriage, Narrow mouth, Hypertrophic cardiomy... |
ORPHA:96334 |
| Pearson Syndrome |
|
Steatorrhea, Hydrops fetalis, Cutaneous photosensitivity, Corneal stromal edema, Dehydration, Med... |
ORPHA:699 |
| Interstitial Lung And Liver Disease |
|
Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid accumulation, Dyspnea, Hyp... |
OMIM:615486 |
| Holocarboxylase Synthetase Deficiency |
|
Anorexia, Tachypnea, Respiratory distress |
ORPHA:79242 |
| Congenital Disorder Of Deglycosylation 1 |
|
Dilation of Virchow-Robin spaces, Oral-pharyngeal dysphagia, Respiratory distress, Impaired oral ... |
OMIM:615273 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, High palate, Ankyloglossia, Cleft palate, Bifid uvula, Lobulated tongue, O... |
OMIM:174300 |
| Aicardi-Goutieres Syndrome 1 |
|
Purpura, Petechiae, Vasculitis, Self-mutilation, Cardiomyopathy, Prolonged neonatal jaundice, Acr... |
OMIM:225750 |
| Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Acrocy... |
ORPHA:49566 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Downturned corners of mouth, Cleft palate, Pierre-Robin sequence, Anteriorl... |
OMIM:217980 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypertonic dehydration |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypertonic dehydration |
OMIM:304800 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Respiratory distress, Abnormal intestine morphology, Urticaria, Pneumonia, Interstitia... |
ORPHA:37042 |
| Microsporidiosis |
|
Anorexia, Glossitis, Bronchitis, Dehydration, Bronchiolitis, Pneumonia |
ORPHA:2552 |
| Cystic Fibrosis |
|
Steatorrhea, Rectal prolapse, Meconium ileus, Dehydration, Recurrent bronchopulmonary infections,... |
OMIM:219700 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Syncope, Premature ventricular contraction, Pierre-Robin sequence, Tac... |
OMIM:192445 |
| Penile Agenesis |
|
Rectal fistula, Bilateral lung agenesis, Anal atresia, Tracheoesophageal fistula, Pulmonary hypop... |
ORPHA:49 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology |
ORPHA:100025 |
| Fraser Syndrome 1 |
|
Tessier cleft, Dental crowding, Cleft upper lip, Cleft palate, Pulmonary hypoplasia, Abnormality ... |
OMIM:219000 |
| Restrictive Dermopathy |
|
Transposition of the great arteries, Ascending tubular aorta aneurysm, Narrow mouth, Microcolon, ... |
ORPHA:1662 |
| Cleft Palate, Deafness, And Oligodontia |
|
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Chiari Malformation Type Ii |
|
Cyanosis, Dysphagia |
OMIM:207950 |
| Constricting Bands, Congenital |
|
Abnormal lung lobation, Cleft upper lip, Cleft palate, Tessier cleft |
OMIM:217100 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis |
OMIM:261680 |
| Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
| Coccidioidomycosis |
|
Respiratory distress, Vasculitis, Pleural empyema, Cerebral ischemia, Parenchymal consolidation, ... |
ORPHA:228123 |
| Immunodeficiency 87 And Autoimmunity |
|
Necrotizing enterocolitis, Cleft palate, Secretory diarrhea, Atrophic gastritis, Perianal dermati... |
OMIM:619573 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Jaundice, Respiratory distress |
OMIM:250940 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Respiratory distress, Smooth tongue, Narrow mouth, Carious teeth, Long phi... |
ORPHA:1051 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Death in childhood, Dehydration |
OMIM:246450 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Abnormal intestine morphology, Esophageal carcinoma, Enterocolitis, Villous atrophy |
ORPHA:391487 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
| Mungan Syndrome |
|
Gastroparesis, Intestinal pseudo-obstruction, Barrett esophagus, Hypoperistalsis, Megaduodenum |
OMIM:611376 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration, Dyspnea |
ORPHA:230 |
| Trichohepatoenteric Syndrome 1 |
|
Intractable diarrhea, Bifid uvula, Villous atrophy |
OMIM:222470 |
| Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Widely spaced teeth, Thick lower lip vermilion, Cleft soft palate, Increased overbite, Short phil... |
OMIM:620450 |
| Hutchinson-Gilford Progeria Syndrome |
|
Exertional dyspnea, Dental crowding, Hypertension, Aortic valve stenosis, Impacted tooth, Aortic ... |
ORPHA:740 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Respiratory distress, Pulmonary arterial hypertension, Neonatal death, ... |
OMIM:616482 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
| Visceral Myopathy 1 |
|
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Gastroparesis, Intestinal... |
OMIM:155310 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate |
OMIM:243440 |
| 8Q24.3 Microdeletion Syndrome |
|
Abnormal lung lobation, Gastrointestinal hemorrhage, Mesiodens, Patent ductus arteriosus, Hypopla... |
ORPHA:508488 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Dysphagia, Respiratory distress |
OMIM:620166 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Purpura, Venous insufficiency, Abnormal cerebral vascular morphology, Subcuta... |
ORPHA:743 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Listeriosis |
|
Myocarditis, Congestive heart failure, Jaundice, Arteritis, Respiratory distress, Miscarriage, St... |
ORPHA:533 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Intractable diarrhea, Villous atrophy, Gastritis, Anoperineal fistula, Diarrhea, ... |
OMIM:619381 |
| Plague |
|
Hematemesis, Anorexia, Abnormal bleeding, Respiratory distress, Acute infectious pneumonia, Gloss... |
ORPHA:707 |
| Autosomal Dominant Cutis Laxa |
|
Congestive heart failure, Emphysema, Aortic regurgitation, Premature skin wrinkling, Aortic aneur... |
ORPHA:90348 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Marfan Syndrome |
|
Pneumothorax, Congestive heart failure, Narrow palate, Emphysema, Aortic regurgitation, Aortic ro... |
OMIM:154700 |
| Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Dental crowding, Impulsivity, Narrow palate, Talon cusp, Cleft palate, Vascular ri... |
OMIM:180849 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Thick lower lip vermilion, Head-banging, Unilateral cleft palate, Frequent temper tantrums, Wide ... |
OMIM:619103 |
| Colchicine Poisoning |
|
Dehydration, Respiratory distress |
ORPHA:31824 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Meconium ileus, Cyanosis |
OMIM:617239 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Triangular mouth, Gingival overgrowth, Abnormality of the dentition, Long phil... |
OMIM:618529 |
| Genitopatellar Syndrome |
|
Anal stenosis, Delayed eruption of teeth, Anal atresia, Pulmonary hypoplasia, Dysphagia, Malrotat... |
OMIM:606170 |
| Behçet Disease |
|
Anorexia, Gastrointestinal hemorrhage, Aortic regurgitation, Recurrent aphthous stomatitis, Pleur... |
ORPHA:117 |
| Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
| Vipoma |
|
Anorexia, Dehydration, Ascites, Intermittent jaundice, Subcutaneous lipoma, Erythema |
ORPHA:97282 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Cardiomyopathy, Hypotension, Arrhythmia, Ventricular tachycardia, Cyanosis |
ORPHA:159 |
| Phaver Syndrome |
|
Coarctation of aorta, Pulmonary artery atresia, Hypoplastic aortic arch |
ORPHA:2876 |
| Diamond-Blackfan Anemia 10 |
|
Cleft palate, Respiratory distress |
OMIM:613309 |
| Neuroleptic Malignant Syndrome |
|
Agitation, Dehydration, Dysphagia, Aspiration pneumonia |
ORPHA:94093 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin vermilion border, Intestinal malrotation, Velopharyngeal insufficiency, Cleft palate, Tetral... |
OMIM:614701 |
| Mitchell-Riley Syndrome |
|
Diarrhea, Meckel diverticulum, Intestinal malrotation, Acholic stools, Jejunal atresia, Anteriorl... |
OMIM:615710 |
| Arboleda-Tham Syndrome |
|
Short philtrum, Respiratory distress, Peg-shaped maxillary lateral incisors, Narrow mouth, Pulmon... |
OMIM:616268 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Dehydration, Acrocyanosis |
OMIM:259900 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:254913 |
| Triosephosphate Isomerase Deficiency |
|
Jaundice, Respiratory distress, Death in adolescence, Death in infancy, Prolonged neonatal jaundi... |
OMIM:615512 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Tessier cleft, Esophageal atresia, Ectopic anus, Anal atresia, Cleft upper lip, Pulmonary hypopla... |
ORPHA:93271 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Rectal prolapse, Acute colitis, Intestinal perforation, Dehydration, Colonic stenosis, Intussusce... |
ORPHA:90038 |
| Microphthalmia, Syndromic 1 |
|
Orofacial cleft, Rectal prolapse, Aganglionic megacolon, High, narrow palate, Tooth malposition, ... |
OMIM:309800 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Arrhythmia, Hypodontia, Submucous cleft hard palate |
ORPHA:3201 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Abnormal pulmonary interstitial morphology, Emphysema, Esophageal varix, High palate, Portal hype... |
OMIM:613658 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Myocardial infarction, Abnormal jugular vein morphology, Angina pectoris, Retinal ar... |
ORPHA:464343 |
| Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Jaundice, Esophageal varix, Dehydration, Ascites |
ORPHA:275761 |
| Zttk Syndrome |
|
Thin vermilion border, Aortic regurgitation, Short philtrum, Intestinal atresia, High palate, Abn... |
OMIM:617140 |
| Inhalational Anthrax |
|
Dyspnea, Hypotension, Internal hemorrhage, Respiratory distress |
ORPHA:247257 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Dysphagia, Aggressive behavior |
ORPHA:488627 |
| Holoprosencephaly |
|
Solitary median maxillary central incisor, Branchial anomaly, Abnormal aortic morphology, Median ... |
ORPHA:2162 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Bifid uvula, ... |
OMIM:617412 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Respiratory distress, Tracheoesophageal fistula, Pulmonary arterial hypert... |
ORPHA:210122 |
| Doors Syndrome |
|
Narrow palate, Widely spaced teeth, Thick lower lip vermilion, Respiratory distress, Broad alveol... |
ORPHA:79500 |
| Oculopharyngodistal Myopathy 1 |
|
Hypercapnia, High palate, Dysphagia, Respiratory distress |
OMIM:164310 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Dental malocclusion, Gingival overgrowth, Pulmonary artery atresia, Tricuspid r... |
OMIM:616894 |
| Hyperlysinemia |
|
Hyperactivity, High palate, Pulmonary artery hypoplasia, Recurrent pneumonia, Dysphagia, Smooth p... |
ORPHA:2203 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Anorexia, Polyhydramnios, Hypernatremic dehydration |
ORPHA:223 |
| Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Respiratory distress, Narrow mouth, Dyspnea, Bifid uvula, Cleft palate, Thic... |
ORPHA:2554 |
| Coffin-Siris Syndrome 4 |
|
Everted upper lip vermilion, Thick lower lip vermilion, Short philtrum, Pulmonary artery atresia,... |
OMIM:614609 |
| Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy |
ORPHA:567983 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Thin vermilion border, High palate, Total anomalous pulmonary venous return, U-Shaped upper lip v... |
OMIM:609945 |
| Myasthenia Gravis |
|
Dyspnea, Raynaud phenomenon, Dysphagia, Acrocyanosis |
ORPHA:589 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Ischemic stroke, Thin vermilion border, Emphysema, Short philtrum, Transient ischemic attack, Dow... |
ORPHA:500150 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Narrow palate, Transposition of the great arteries, Patent ductus arterio... |
OMIM:312870 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Recurrent hand flapping, Downturned corners of mouth, Attention deficit hyperactivity disorder, S... |
OMIM:619680 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi... |
ORPHA:348 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
| Chromosome 17Q12 Duplication Syndrome |
|
Smooth philtrum, Esophageal atresia, Cleft soft palate |
OMIM:614526 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Diarrhea, Glossitis, Hamartomatous polyposis, Vomiting, Hematochezia,... |
OMIM:175500 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Conical tooth, Respiratory distress, Periorbital wrinkles, Everted l... |
OMIM:305100 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Pierre-Robin sequence, Thin upper lip vermilion, Cleft soft palate |
OMIM:620183 |
| Amish Lethal Microcephaly |
|
Cleft soft palate, Death in infancy |
ORPHA:99742 |
| Campomelic Dysplasia |
|
Recurrent lower respiratory tract infections, Respiratory distress, Narrow mouth, High palate, Ir... |
OMIM:114290 |
| Mpi-Cdg |
|
Diarrhea, Gastrointestinal hemorrhage, Protein-losing enteropathy, Vomiting |
ORPHA:79319 |
| Ethylmalonic Encephalopathy |
|
Petechiae, Acrocyanosis |
ORPHA:51188 |
| Sarcoidosis |
|
Pneumothorax, Heart block, Emphysema, Chylothorax, Abnormal cardiac ventricular function, Parotit... |
ORPHA:797 |
| Nasolacrimal Duct Cyst |
|
Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions, Periorbital edema |
ORPHA:141083 |
| Orofaciodigital Syndrome Type 2 |
|
Central retinal vessel vascular tortuosity, Peg-shaped maxillary lateral incisors, High palate, T... |
ORPHA:2751 |
| Fucosidosis |
|
Abnormality of the dentition, Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
| Pallister-Killian Syndrome |
|
Everted lower lip vermilion, Aortic valve stenosis, Intestinal malrotation, Bifid uvula, Wide mou... |
OMIM:601803 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Downturned corners of mouth, Dehydration |
ORPHA:99885 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
| Schilbach-Rott Syndrome |
|
Attention deficit hyperactivity disorder, Submucous cleft hard palate, Bifid uvula, Narrow mouth |
OMIM:164220 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Jaundice, Respiratory distress, Stroke, Transient ischemic attack, Prolonged neonatal jaundice, M... |
OMIM:274150 |
| Fraser Syndrome 3 |
|
Abnormal lung lobation, Stillbirth |
OMIM:617667 |
| Wolf-Hirschhorn Syndrome |
|
Short philtrum, Abnormality of the philtrum, Cleft upper lip, Downturned corners of mouth, Cleft ... |
ORPHA:280 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Cleidocranial Dysplasia 1 |
|
Narrow palate, Supernumerary tooth, High, narrow palate, Respiratory distress, High palate, Ename... |
OMIM:119600 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Delayed eruption of teeth, Aortic valve stenosis, Coarctation of aorta, Bifi... |
ORPHA:2780 |
| Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Transposition of the great arteries, Respiratory distress, Interrupted aortic arch, Pulmonary art... |
ORPHA:2255 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, High palate, Pyloric stenosis, Motor stereotypy, Long philtrum, Submuco... |
ORPHA:457279 |
| Criss-Cross Heart |
|
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Cyan... |
ORPHA:1461 |
| Noonan Syndrome With Multiple Lentigines |
|
Vascular dilatation, Excessive wrinkled skin, Hypertrophic cardiomyopathy, Pulmonic stenosis, Bun... |
ORPHA:500 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Impulsivity, Wide mouth, Dysphagia, Bruxism, Transposition of the great arteries... |
OMIM:619503 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus |
ORPHA:2519 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Elevated pulmonary artery pressure, Congestive heart failure, Abnormal jugular vein morphology, D... |
ORPHA:275766 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Generalized abnormality of skin, Oral-pharyngeal dysphagia, Respiratory distress, Xeros... |
ORPHA:95455 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Internal carotid artery dissection, Cerebral arteriovenous malformation, Cario... |
OMIM:150230 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... |
OMIM:610338 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Congenitally corrected transposition of the great arteries with ventricular septal defect, Right ... |
OMIM:617205 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal lung lobation, Orofacial cleft, Patent ductus arteriosus, Aortic root aneurysm, Noncompa... |
OMIM:607872 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411629 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Jaundice, Polyhydramnios, Respiratory distress, Ascites, Death in infancy |
OMIM:617156 |
| Oculopalatocerebral Syndrome |
|
Cleft palate |
OMIM:257910 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
| Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Anorexia, Pulmonary embolism, Gastrointestinal hemorrhage, Arteriovenous malformation, Dental cro... |
ORPHA:394 |
| Hydrolethalus |
|
Gingival cleft, Bifid uvula, Unilateral cleft lip, Cleft palate, Submucous cleft hard palate |
ORPHA:2189 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion border, Submucous cl... |
OMIM:618106 |
| Craniofacial Microsomia 1 |
|
Transverse facial cleft, Branchial anomaly, Right aortic arch, Cleft upper lip, Coarctation of ao... |
OMIM:164210 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Dehydration, Enamel hypomineralization |
ORPHA:47159 |
| Arthrogryposis, Distal, Type 3 |
|
Submucous cleft hard palate, Bifid uvula, High palate, Cleft palate |
OMIM:114300 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Neoplasm of the tongue, Bifid uvula, Patent ductus arteriosus, ... |
ORPHA:3047 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
| Distal Renal Tubular Acidosis |
|
Polydipsia, Dehydration |
ORPHA:18 |
| Holoprosencephaly 2 |
|
Solitary median maxillary central incisor, Proboscis, Bilateral cleft palate, Median cleft palate... |
OMIM:157170 |
| Interatrial Communication |
|
Congestive heart failure, Atrial flutter, Exertional dyspnea, Right axis deviation, Atrial fibril... |
ORPHA:1478 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Jaundice, Petechiae, Dehydration, Bruising susceptibility, Aggressive behavior |
ORPHA:99826 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Tricuspid regurgitation, Aortic rupture, Patent ductus arteriosus, Bruising su... |
OMIM:614557 |
| Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
| Cornelia De Lange Syndrome 6 |
|
Hair-pulling, Pulmonary artery atresia, Compulsive behaviors, Long philtrum, Cleft lip, Macrodont... |
OMIM:620568 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Cerebral edema, Cyanosis, Death in infancy |
OMIM:252010 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411634 |
| Cardiofaciocutaneous Syndrome 1 |
|
Tongue thrusting, Open bite, High palate, Abnormality of the dentition, Hypertrophic cardiomyopat... |
OMIM:115150 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Abnormal periodontium morphology, Tooth malposition, Respiratory distress, Gingival overgrowth, C... |
ORPHA:480880 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Short hard palate, Glossoptosis, High palate, Carious teeth, Cl... |
OMIM:117650 |
| Primary Sjögren Syndrome |
|
Abnormal pulmonary interstitial morphology, Purpura, Abnormal pulmonary thoracic imaging finding,... |
ORPHA:289390 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Aortic valve stenosis, Pulmonic stenosis, Bifid uvula, Dysphagia, Bruxism, Agang... |
ORPHA:261537 |
| Infantile Krabbe Disease |
|
Respiratory distress, Cherry red spot of the macula, Abnormal heart rate variability |
ORPHA:206436 |
| Multiple Endocrine Neoplasia Type 1 |
|
Peptic ulcer, Duodenal ulcer, Anorexia, Gingival fibromatosis, Dehydration |
ORPHA:652 |
| Orofaciodigital Syndrome Type 10 |
|
Long philtrum, Accessory oral frenulum, Cleft soft palate |
ORPHA:2756 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... |
ORPHA:79076 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Supernumerary tooth, Aplasia of the epiglottis, Polyhydramnios, Respiratory distress, Hypodontia,... |
OMIM:617088 |
| Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Bifid uvula, Pierre-Robin sequence, Cleft palate |
OMIM:108300 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Nasal flaring, Downturned corners of mouth, Wide mouth, Dysphagia, Attention deficit hyperactivit... |
ORPHA:466943 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate, Tetralogy of Fallot |
OMIM:222765 |
| Gitelman Syndrome |
|
Polydipsia, Prolonged QT interval, Respiratory distress, Prominent U wave, Low-to-normal blood pr... |
ORPHA:358 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Delayed eruption of teeth, Eruption failure, High palate, Long philtrum |
OMIM:166250 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
| Cystinosis, Nephropathic |
|
Polydipsia, Dehydration, Dysphagia |
OMIM:219800 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Bifid uvula, Patent ... |
OMIM:300990 |
| W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Upper lip pit, Agenesis of maxillary central incisor |
ORPHA:2804 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Smooth philtrum, Short philtrum |
ORPHA:293725 |
| Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate, Branchial fistula, Branchial cyst |
OMIM:609166 |
| Primary Hyperoxaluria |
|
Heart block, Rootless teeth, Cardiomyopathy, Abnormality of the dentition, Intermittent claudicat... |
ORPHA:416 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Hyphema, Aortic valve stenosis, Pulmonic stenosis, Bifid uvula, Dysphagia, Bruxi... |
ORPHA:261552 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Narrow mouth, Impulsiv... |
OMIM:300967 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Supernumerary tooth, Widely spaced teeth, Aortic regurgitation, Cleft soft palate, Stereotypical ... |
ORPHA:268261 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Stroke, Hypertension, Gingival bleeding, Budd-Chiar... |
ORPHA:729 |
| 8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Submucous cleft hard palate, Abnormality of the dentition |
ORPHA:178303 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Splenomegaly |
OMIM:613179 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastroparesis, Gastrointestin... |
ORPHA:90291 |
| Generalized Arterial Calcification Of Infancy |
|
Calcification of the aorta, Left ventricular systolic dysfunction, Respiratory distress, Stroke, ... |
ORPHA:51608 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Tracheoesophageal fistula, Attention deficit hyperactivity disorder, Submucou... |
OMIM:619227 |
| Mowat-Wilson Syndrome |
|
Dental crowding, Everted lower lip vermilion, Pulmonic stenosis, Aortic valve stenosis, Bifid uvu... |
ORPHA:2152 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip vermilion, High palate, E... |
OMIM:608670 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate |
OMIM:619122 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Widely spaced teeth, Tooth malposition, Delayed eruption of teeth, Pulmona... |
OMIM:235730 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Polyhydramnios, Dehydration |
OMIM:241200 |
| Primary Fanconi Renotubular Syndrome |
|
Dehydration, Pulmonary fibrosis |
ORPHA:3337 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Smooth tongue, Abnormality of the dentition, Apnea, Oligohydramnios |
ORPHA:3206 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,... |
ORPHA:1071 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Apnea, Dysphagia, Episodic ... |
ORPHA:255210 |
| Myhre Syndrome |
|
Thin vermilion border, Gingival cleft, Hypertension, Narrow mouth, Bifid uvula, Unilateral cleft ... |
ORPHA:2588 |
| Dubowitz Syndrome |
|
Rectal prolapse, Anal stenosis, Delayed eruption of teeth, Cutaneous photosensitivity, High palat... |
ORPHA:235 |
| Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Submucous cleft hard palate, Mitral stenosis, Bifid uvula |
OMIM:617660 |
| Coffin-Lowry Syndrome |
|
Narrow palate, Rectal prolapse, Thick lower lip vermilion, Widely spaced teeth, High palate, Ever... |
OMIM:303600 |
| Sturge-Weber Syndrome |
|
Gingival overgrowth, Stroke, Conjunctival telangiectasia, Dysphagia, Abnormal cerebral vascular m... |
ORPHA:3205 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Miscarriage, Dehydration, Hypocapnia |
ORPHA:90794 |
| Kasabach-Merritt Phenomenon |
|
Prolonged prothrombin time, Purpura, Respiratory distress, Petechiae, Abnormal lymphatic vessel m... |
ORPHA:2330 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Prolonged neonatal jaundice, Jaundice, Ascites, Respiratory distress |
OMIM:256810 |
| Agammaglobulinemia, X-Linked |
|
Prostatitis, Lymph node hypoplasia, Epididymitis |
OMIM:300755 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Rectal prolapse, High, narrow palate, Venous insufficiency, Aortic root aneurysm, Dental crowding... |
ORPHA:285 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Congestive heart failure, Exertional dyspnea, Increased pulmonary vascular resistance, Right bund... |
ORPHA:70591 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, High palate, Carious teeth, Velopharyngeal insufficienc... |
OMIM:223370 |
| Hyperparathyroidism, Transient Neonatal |
|
Polyhydramnios, Respiratory distress |
OMIM:618188 |
| Proteus Syndrome |
|
Abnormal lung lobation, Bronchogenic cyst, Abnormal subcutaneous fat tissue distribution, Arterio... |
ORPHA:744 |
| Cardiofaciocutaneous Syndrome |
|
Excessive wrinkled skin, High palate, Hypertrophic cardiomyopathy, Pulmonic stenosis, Long philtr... |
ORPHA:1340 |
| Classical Ehlers-Danlos Syndrome |
|
Rectal prolapse, Orthostatic hypotension, Hiatus hernia, Pulp calcification, Arteriovenous fistul... |
ORPHA:287 |
| Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
| Mullegama-Klein-Martinez Syndrome |
|
Short philtrum, Attention deficit hyperactivity disorder, Submucous cleft of soft and hard palate... |
OMIM:301022 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Bifid uvula, Submucous cleft soft palate, Cleft palate, Hypodontia, Cleft lip |
ORPHA:69085 |
| Neuroblastoma |
|
Abnormal bleeding, Hypertension, Respiratory distress |
ORPHA:635 |
| Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Respiratory distress |
OMIM:260400 |
| Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:601678 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Submucous cleft hard palate, Compulsive behaviors, Attention deficit hypera... |
OMIM:618891 |
| Branchioskeletogenital Syndrome |
|
Thin vermilion border, Short philtrum, Periorbital wrinkles, Rootless teeth, Premature loss of te... |
ORPHA:1299 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Abnormal rectum morphology, Abnormality ... |
ORPHA:2556 |
| Tropical Endomyocardial Fibrosis |
|
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... |
ORPHA:75565 |
| Diamond-Blackfan Anemia |
|
Cleft soft palate, High palate, Adenocarcinoma of the colon, Coarctation of aorta, Cleft lip, Rad... |
ORPHA:124 |
| Native American Myopathy |
|
High palate, Downturned corners of mouth, Bifid uvula, Cleft palate, Submucous cleft soft palate |
ORPHA:168572 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress |
OMIM:618733 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Prematurely aged appearance, Abnormal dental enamel morphology, Bifid uvula,... |
ORPHA:2658 |
| Aicardi-Goutières Syndrome |
|
Calcification of the aorta, Moyamoya phenomenon, Aortic aneurysm, Hypertrophic cardiomyopathy, Pr... |
ORPHA:51 |
| Holoprosencephaly 13, X-Linked |
|
Solitary median maxillary central incisor, Median cleft palate, Cleft palate, Patent ductus arter... |
OMIM:301043 |
| Marden-Walker Syndrome |
|
Narrow mouth, Pyloric stenosis, Bifid uvula, Cleft palate, Attention deficit hyperactivity disord... |
ORPHA:2461 |
| Microphthalmia, Syndromic 2 |
|
Supernumerary tooth, Radiculomegaly, Dental malocclusion, Delayed eruption of teeth, Hypoplastic ... |
OMIM:300166 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology |
OMIM:154500 |
| Meier-Gorlin Syndrome 5 |
|
Long philtrum, Submucous cleft hard palate, Thick vermilion border |
OMIM:613805 |
| Acromelic Frontonasal Dysostosis |
|
Persistent falcine venous sinus, Dilation of Virchow-Robin spaces, Midline facial cleft, Cleft up... |
OMIM:603671 |
| Pmm2-Cdg |
|
Abnormal subcutaneous fat tissue distribution, Respiratory distress, Angina pectoris, High palate... |
ORPHA:79318 |
| Alström Syndrome |
|
Congestive heart failure, Respiratory distress, Abnormality of dental color, Hypertension, Esopha... |
ORPHA:64 |
| Sotos Syndrome |
|
Aganglionic megacolon, Small cell lung carcinoma, Aortic aneurysm, Abnormality of the dentition, ... |
ORPHA:821 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Thin vermilion border, Respiratory distress, Recurrent pneumonia, Long philtrum, Vascular tortuosity |
ORPHA:99646 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c... |
ORPHA:2250 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin lower lip vermilion, Microdontia, Deep philtrum, Wide mouth, Submucous cleft hard palate, Ma... |
OMIM:619194 |
| Holt-Oram Syndrome |
|
Abnormal coronary artery origin, Cleft soft palate, Tricuspid regurgitation, Pulmonary arterial h... |
OMIM:142900 |
| Tolchin-Le Caignec Syndrome |
|
Narrow mouth, Submucous cleft hard palate, High palate, Attention deficit hyperactivity disorder |
OMIM:618971 |
| Coffin-Siris Syndrome 12 |
|
High palate, Velopharyngeal insufficiency, Tetralogy of Fallot, Motor stereotypy, Heart murmur, C... |
OMIM:619325 |
| Wiedemann-Rautenstrauch Syndrome |
|
Premature skin wrinkling, Short philtrum, Premature loss of teeth, Narrow mouth, Abnormality of t... |
ORPHA:3455 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Downturned corners of mouth, Smooth philtrum, Cleft soft palate |
OMIM:619321 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Jaundice, Stroke, Hypertension, Dyspnea, Budd-Chiari syndrome, Dysphagia, Pulmonary embolism, Myo... |
ORPHA:447 |
| Loeys-Dietz Syndrome |
|
Orofacial cleft, Abnormal bleeding, Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Ca... |
ORPHA:60030 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Bifid uvula, Cleft palate, Thick vermilion border, Submucous cleft hard palate |
ORPHA:2636 |
| Neuroocular Syndrome |
|
Widely spaced teeth, Short uvula, Increased overbite, Ankyloglossia, Downturned corners of mouth,... |
OMIM:619539 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
