| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... |
ORPHA:50251 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Vernal Keratoconjunctivitis |
|
Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea... |
ORPHA:70476 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... |
ORPHA:2414 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Congenital Heart Block |
|
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he... |
ORPHA:60041 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav... |
ORPHA:75249 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Median cleft palate, Large for gestational age |
ORPHA:2432 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... |
ORPHA:411703 |
| Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... |
ORPHA:330001 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Pedal edema, Weight loss, Hypote... |
ORPHA:188 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac... |
ORPHA:36238 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... |
OMIM:115197 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
| Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... |
OMIM:612387 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion |
ORPHA:48686 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... |
OMIM:613953 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Tachypnea, Capillary leak, ... |
ORPHA:542323 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Small for gestational age, Pericardial effusion, Hypertrophic cardiomyopathy, ... |
OMIM:614702 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Dyspnea, Chronic pu... |
ORPHA:1163 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl... |
OMIM:613255 |
| Tularemia |
|
Respiratory distress, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis... |
ORPHA:3392 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Co... |
OMIM:261740 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... |
OMIM:106210 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczema, Congestive heart failure, Stillbirth, Neonatal death, Pulmonary art... |
OMIM:619751 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta... |
ORPHA:454836 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... |
ORPHA:1041 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... |
OMIM:612877 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a... |
ORPHA:45452 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... |
ORPHA:60033 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lym... |
ORPHA:69735 |
| Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Pleural effusion, Ascites, Edema |
OMIM:603278 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure... |
ORPHA:132 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Follicular Lymphoma |
|
Pleural effusion, Weight loss, Lymphedema |
ORPHA:545 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Uveitis, Small ves... |
ORPHA:36412 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilate... |
ORPHA:563 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fi... |
ORPHA:980 |
| Noonan Syndrome 8 |
|
Curly hair, Short stature, Eczema, Polyhydramnios, Large for gestational age, Hypertrophic cardio... |
OMIM:615355 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Dyspnea, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Neona... |
OMIM:614096 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation, Congestive heart failure |
OMIM:301021 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary int... |
OMIM:620233 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... |
OMIM:265300 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Sandhoff Disease |
|
Recurrent respiratory infections, Failure to thrive, Congestive heart failure |
ORPHA:796 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Short stature, Polyhydramnios, Respiratory insufficiency due to muscle weak... |
OMIM:300580 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis,... |
OMIM:278730 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity, Cleft palate |
ORPHA:90654 |
| Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Edema, Recurrent pneumonia, Ab... |
OMIM:619644 |
| Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
| Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Hirsut... |
ORPHA:64739 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion |
OMIM:602248 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Recurrent respiratory infections, Edema, Asthma, Low posterior hairline, Long eyelashes, Pleural ... |
OMIM:618606 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Obesity, Recurrent otitis ... |
OMIM:615993 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Congestive heart failure, Weight loss, Pleural empyema, Cough, Constrictiv... |
ORPHA:67 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Hemochromatosis, Type 1 |
|
Alopecia, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effusion,... |
OMIM:235200 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Failure to thrive, Corneal neovascularization, Punctate keratitis |
OMIM:617388 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure, Polyhydramnios |
OMIM:616794 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Hellp Syndrome |
|
Generalized edema, Cerebral hemorrhage, Increased body weight, Prolonged prothrombin time, Hypote... |
ORPHA:244242 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial... |
ORPHA:90068 |
| Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Failure to thrive, Congestive heart failure, Intrauterine growth... |
OMIM:616045 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti... |
ORPHA:340 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Nonimmune hydrops fetalis, Prolonged prothrombin time, Pleural effusion, Ascites |
OMIM:617049 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Corneal opacity |
ORPHA:2370 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Abnormal... |
ORPHA:70588 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Postnatal growth retardation, Congestive heart failure, Intrauterine growth retardation, Hypertro... |
OMIM:615440 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... |
ORPHA:31826 |
| Immunodeficiency 104 |
|
Eczema, Pneumonia, Chronic mucocutaneous candidiasis, Otitis media, Failure to thrive secondary t... |
OMIM:608971 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Generalized edema, Alopecia, Apnea, Polyhydramnios, Edema,... |
ORPHA:79330 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Bilateral cleft lip and palate, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
| Short Syndrome |
|
Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod... |
ORPHA:3163 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
| Mucolipidosis Iv |
|
Corneal opacity, Achlorhydria, Opacification of the corneal stroma, Dystonia |
OMIM:252650 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis... |
ORPHA:292 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure t... |
ORPHA:91130 |
| Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... |
OMIM:616198 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive... |
ORPHA:1344 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Mucolipidosis Type Iii |
|
Inguinal hernia, Corneal opacity, Cleft palate |
ORPHA:577 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Congestive heart failure, Bradycardia, Intrauterine growth retardation, Failure to thrive |
OMIM:619048 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cataract, Bradycardia... |
OMIM:618815 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Alopecia, Skin rash, Edema, Pericardial effusion, Dyspnea, Discoid lupus rash, Raynaud ... |
ORPHA:93552 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Pulmonar... |
OMIM:616897 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Short stature, Congestive heart failure, ... |
OMIM:255160 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Furrowed tongue, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Cor... |
OMIM:158310 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... |
OMIM:612444 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Cough, Abnormal pattern o... |
ORPHA:77260 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Joint swelling, Pleural effusion, Juvenile rheumatoid ... |
ORPHA:85414 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... |
ORPHA:90308 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Coronary Arterial Fistula |
|
Orthopnea, Abnormal EKG, Continuous heart murmur, Elevated jugular venous pressure, Tachycardia, ... |
ORPHA:2041 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
| Carvajal Syndrome |
|
Woolly hair, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Hemothorax, Heart murmur, T... |
ORPHA:2038 |
| Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardia... |
ORPHA:781 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity, Weight loss |
ORPHA:317 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Postnatal growth retardation, Hypertension, Pulm... |
OMIM:616733 |
| Acute Lung Injury |
|
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D... |
ORPHA:178320 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia, Cachexia, Respiratory insufficiency |
ORPHA:157973 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Nocardiosis |
|
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... |
ORPHA:31204 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Respiratory tract infection, Minimal ch... |
ORPHA:567546 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Severe short stature, Small for gestational age, Growth delay, Res... |
OMIM:619057 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease... |
OMIM:614170 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
| Cardiomyopathy, Dilated, 2A |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:611880 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation |
ORPHA:1832 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypert... |
ORPHA:367 |
| Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Cardiac conduction abnormality, Pneumonia, Respiratory... |
ORPHA:97244 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Short stature, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, ... |
OMIM:618935 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Congestive heart failure, Pedal edema, Heart murmur, Bacterial endocardi... |
ORPHA:615 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Pneumothora... |
ORPHA:1302 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Slc35A1-Cdg |
|
Respiratory distress, Prolonged bleeding time, Pneumonia, Hypoxemia, Pulmonary hemorrhage |
ORPHA:238459 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Dyspnea, Congestive h... |
ORPHA:75566 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertension, Hypertrophic cardiomy... |
ORPHA:1345 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Nail dystrophy, Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:618806 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Bradycardia,... |
OMIM:617397 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation, Failure to thrive, Cardiomyopathy |
ORPHA:26792 |
| Sialidosis Type 2 |
|
Inguinal hernia, Corneal opacity, Tremor, Flexion contracture, Umbilical hernia |
ORPHA:87876 |
| Congenital Myopathy 8 |
|
Congestive heart failure, Reduced vital capacity, Respiratory insufficiency |
OMIM:618654 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Failure to thrive, Eczematoid dermatitis, Pneumonia |
OMIM:269840 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract, Dystonia, Hypertrophic cardiomyopathy, Short nose |
OMIM:617183 |
| Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... |
OMIM:616843 |
| Kid Syndrome |
|
Keratitis, Scarring alopecia of scalp, Corneal erosion, Knee flexion contracture, Neoplasm of the... |
ORPHA:477 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Ovarian Fibroma |
|
Pleural effusion, Ascites, Peritonitis |
ORPHA:314473 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Ring Chromosome 22 Syndrome |
|
Edema, Lymphedema, Growth delay, Pleural effusion, Thick eyebrow |
ORPHA:1446 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Failure to thrive, Crack... |
ORPHA:1329 |
| Fusariosis |
|
Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Maculopapular exanthema, Keratitis, Hype... |
ORPHA:228119 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... |
OMIM:612098 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven... |
ORPHA:99095 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Ovarian Fibrothecoma |
|
Pleural effusion, Ascites, Hirsutism, Peritonitis |
ORPHA:314478 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism, Gastroesophageal reflux, Hiatus hernia |
OMIM:614619 |
| Gorham-Stout Disease |
|
Pleural effusion, Osteomyelitis, Edema, Rhinorrhea |
ORPHA:73 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, R... |
ORPHA:3260 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Leukonychia, Weigh... |
ORPHA:2905 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of... |
ORPHA:284227 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Small for gestational age, Achilles tendon contracture, Corneal scarring,... |
ORPHA:404454 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Congestive heart failure, Hydrops fetalis, Ascites, Fair hair |
OMIM:269920 |
| Scorpion Envenomation |
|
Bundle branch block, Acute pancreatitis, Tachycardia, Edema, Cardiac conduction abnormality, Myoc... |
ORPHA:466677 |
| Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Obesity, Myocardial infarction |
OMIM:615703 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Weig... |
ORPHA:679 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... |
ORPHA:3092 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| American Trypanosomiasis |
|
Skin rash, Edema, Periorbital edema, Dyspnea, Myocarditis, Congestive heart failure, Cardiomyopat... |
ORPHA:3386 |
| Neurotrophic Keratopathy |
|
Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio... |
ORPHA:137596 |
| Naxos Disease |
|
Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear... |
ORPHA:34217 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
| Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... |
ORPHA:3015 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... |
OMIM:232300 |
| Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morp... |
ORPHA:35687 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema |
OMIM:105210 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
| Alpha-Mannosidosis |
|
Inguinal hernia, Cataract, Corneal opacity, Narrow palate, Macroglossia, Type II diabetes mellitus |
ORPHA:61 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... |
ORPHA:92050 |
| Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... |
ORPHA:2302 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Congestive heart failure, Respiratory failure, Hypertrophic cardiomyopa... |
ORPHA:70472 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Mulibrey Nanism |
|
Short stature, Congestive heart failure, Hydrops fetalis, Growth delay, Intrauterine growth retar... |
OMIM:253250 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Sparse hair, Intrauterine growth retardation, Failure to thrive, Aplasia/Hy... |
ORPHA:261304 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Bronchiectasis, D... |
OMIM:612649 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... |
OMIM:212140 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media |
OMIM:312863 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Weight loss, Growth delay, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Dyspnea... |
ORPHA:439 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ... |
ORPHA:33226 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Skin r... |
ORPHA:183 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Dyspnea, Iridocyclitis, Bronchiectasis, Abnormal pulmonary interstitial mor... |
OMIM:181000 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Congestive heart failure, Growth delay, Respiratory failure, Arrhythmia, Intrauterine growth reta... |
ORPHA:1194 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
| Babesiosis |
|
Myocardial infarction, Recurrent pharyngitis, Congestive heart failure, Respiratory insufficiency... |
ORPHA:108 |
| Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Respiratory paralysis, Infectious encephalitis, Abno... |
ORPHA:79139 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Short stature, T... |
ORPHA:363705 |
| Ogden Syndrome |
|
Apnea, Lymphedema, Ventricular tachycardia, Supraventricular tachycardia, Aspiration, Intrauterin... |
OMIM:300855 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure, Predominantly lower limb lymphedema, Short stature, Low posterior hairline |
ORPHA:261519 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Tricuspid regurgitation, Increased pulmonary vascular resistance, Dy... |
ORPHA:275766 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Cough, Nephritis, I... |
ORPHA:73263 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Growth delay, Hypertrophi... |
OMIM:613561 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Left v... |
OMIM:618052 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... |
OMIM:601457 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to... |
OMIM:618234 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... |
ORPHA:1546 |
| Hurler-Scheie Syndrome |
|
Cardiomyopathy, Corneal opacity, Hernia |
ORPHA:93476 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:300991 |
| Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... |
ORPHA:98909 |
| Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy |
ORPHA:1349 |
| Cednik Syndrome |
|
Congestive heart failure, Short stature |
ORPHA:66631 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Inguinal hernia, Cataract, Aganglionic megacolon, Abnormal dental en... |
ORPHA:567 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Peri... |
OMIM:235510 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
| Classic Multiminicore Myopathy |
|
Short stature, Right ventricular failure, Intermittent episodes of respiratory insufficiency due ... |
ORPHA:324604 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis |
ORPHA:99825 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Warburg-Cinotti Syndrome |
|
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Limbal stem cell deficiency, ... |
OMIM:618175 |
| Endocardial Fibroelastosis |
|
Congestive heart failure, Restrictive cardiomyopathy |
ORPHA:2022 |
| Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Wide nasal bridge, Microcornea, Short nose |
ORPHA:2557 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Short stature, Pneumonia, Widow's peak, Recurrent otitis media, Periodontitis, Bronchiolitis |
OMIM:266265 |
| Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Type I diabetes mellitus |
ORPHA:290 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... |
OMIM:615482 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Tachypnea, Left ... |
ORPHA:860 |
| Oculomaxillofacial Dysostosis |
|
Wide nasal bridge, Corneal opacity, Camptodactyly of finger, Cleft palate |
ORPHA:1794 |
| Brucellosis |
|
Bronchitis, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Pneumonia, Arteritis, Ple... |
ORPHA:1304 |
| Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Opacification of the corneal stroma |
ORPHA:1643 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
| Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Abnormal lung morphology, Subconju... |
ORPHA:464329 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Postnatal growth retar... |
OMIM:610198 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy |
OMIM:192600 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, ... |
OMIM:616271 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity, Tremor, Wide nasal bridge, Hernia |
ORPHA:812 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Noonan Syndrome 10 |
|
Curly hair, Mitral stenosis, Short stature, Sparse eyebrow, Increased nuchal translucency, Hypert... |
OMIM:616564 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia |
ORPHA:1055 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Short stature, Eczema, Pneumonia, Asthma, Failure to thrive |
OMIM:607271 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity, Camptodactyly of finger |
ORPHA:2741 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... |
ORPHA:538 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic pulmonary... |
OMIM:612650 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Abnormal stomach morphology |
ORPHA:281090 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia |
OMIM:617638 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... |
ORPHA:133 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity, Congenital diaphragmatic hernia |
OMIM:166300 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:608644 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
| Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion, Stomatitis |
OMIM:613011 |
| Hemochromatosis, Type 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomyopathy, Arrhythmia |
OMIM:602390 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:608099 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short nose, Corneal opacity |
OMIM:618961 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Right ventricular failure, Dyspnea, Nonproductive cough, Asth... |
ORPHA:97287 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Prolonged QT interval, Inflammatory abnormality of the skin, Tachycardia, S... |
ORPHA:26793 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Bilateral cleft lip and palate, Popliteal pterygium, Axil... |
OMIM:619339 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Res... |
OMIM:609015 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Astigmatism, Flexion contracture, Opacification of the corneal epithelium |
OMIM:270200 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Neoplasm of the lung, Strid... |
ORPHA:142 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Polyhydramnios, Abnormal p... |
OMIM:617180 |
| Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Nonimmune hydrops fetalis, Congestive heart failure, Respiratory insuf... |
OMIM:166210 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Synophrys, Pulmonary hypoplasia,... |
OMIM:620369 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Corneal opacity, Congenital diaphragmatic hernia, High, narrow palate, Developme... |
ORPHA:2409 |
| Sarcoidosis |
|
Heart block, Abnormal lung morphology, Ventricular tachycardia, Uveitis, Tubulointerstitial nephr... |
ORPHA:797 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Wide nasal bridge, Corneal opacity |
OMIM:602562 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios |
ORPHA:163596 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Dehydration, Cardiomyopathy, Failure to thrive, Pancreatitis |
ORPHA:79312 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
| Cystinosis |
|
Corneal opacity, Portal hypertension, Malabsorption, Type I diabetes mellitus, Failure to thrive |
ORPHA:213 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Highly arched eyebrow, Congestive heart failure, Failure to thrive, Polyhydramnios |
ORPHA:500533 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Anomalous origin of one pulmonary artery from ascending aorta,... |
ORPHA:3384 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Hypopigmentation of hair, ... |
ORPHA:167 |
| Primary Sclerosing Cholangitis |
|
Spider hemangioma, Portal hypertension, Congestive heart failure, Hepatitis, Uveitis, Ulcerative ... |
ORPHA:171 |
| Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Cough, Erythema nodosum,... |
ORPHA:228123 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Osteomyelitis, Cardiac shunt, Edema, Pulmonary embolism, Increased pulmon... |
ORPHA:70591 |
| Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Abnormal dental enamel morphology, Xerostomia, Dysphagia, Keratoconj... |
ORPHA:2363 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Failure to thrive |
OMIM:616974 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, Congestive heart... |
OMIM:310200 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... |
ORPHA:397596 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Edema, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopat... |
OMIM:605676 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Wide nasal bridge, Cleft palate, Obesity, Ectopic anus, High palate, Anir... |
ORPHA:251038 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Atelectasis, Lymphadeniti... |
OMIM:306400 |
| Pediatric-Onset Graves Disease |
|
Episcleritis, Atrial fibrillation, Keratitis, Neonatal asphyxia, Congestive heart failure, Hypert... |
ORPHA:525731 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Eczema, Tachypnea, Keratoconjunctivitis, Growth delay, Weight los... |
ORPHA:79242 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Short nose, Cataract, Corneal opacity |
ORPHA:496790 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Dyspnea, Congestive heart failure, Heart murmur, Bacterial endocardi... |
ORPHA:1054 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,... |
OMIM:618183 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short stature, Highly arched eyebrow, Polyhydramnios, Lymphedema, Postnatal growth retardation, L... |
OMIM:613563 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Tachypnea, Infectious encephalitis, ... |
ORPHA:36234 |
| Zellweger Syndrome |
|
Failure to thrive, Cataract, Corneal opacity, Malabsorption, Brushfield spots, Pyloric stenosis, ... |
ORPHA:912 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Congestive heart failure, ... |
OMIM:616482 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Yellow nails, Conjunc... |
OMIM:153400 |
| Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:613291 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... |
OMIM:613807 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Postnatal growth retardation, Congestive ... |
ORPHA:3309 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... |
ORPHA:79128 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Arthritis, Arrhythmia, Congestive heart failure |
ORPHA:85446 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
| Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Failure to thrive, Cong... |
OMIM:302060 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Short stature |
ORPHA:2374 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Short stature, Heart murmur, Growth delay,... |
ORPHA:1867 |
| Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Alopecia, Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Urinary bladder... |
ORPHA:99921 |
| Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Abnormal pulmonar... |
ORPHA:206569 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:206546 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... |
OMIM:613808 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia... |
OMIM:618253 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Sy... |
OMIM:617303 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress |
OMIM:620011 |
| Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis, Failure to thrive |
OMIM:300400 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Anal stenosis, Wide nasal bridge, Microcornea, Opacification of the corneal stro... |
OMIM:601499 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... |
OMIM:607594 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Naxos Disease |
|
Curly hair, Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Sparse... |
OMIM:601214 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, Frontal balding, First degree atrioven... |
OMIM:160900 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Dilated cardiomyopathy,... |
OMIM:619573 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Short stature, Cardiac arrest |
ORPHA:49827 |
| Alstrom Syndrome |
|
Alopecia, Chronic active hepatitis, Short stature, Congestive heart failure, Asthma, Recurrent pn... |
OMIM:203800 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios |
ORPHA:1143 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Lymphedema, Yellow nails, Dyspnea, Bronchiectasis, N... |
ORPHA:662 |
| Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
| Hennekam Syndrome |
|
Recurrent respiratory infections, Mild postnatal growth retardation, Sparse axillary hair, Lymphe... |
ORPHA:2136 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia |
ORPHA:411777 |
| Stromme Syndrome |
|
Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Wide nasal bridge, Cleft palate,... |
OMIM:243605 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Short nose, Corneal opacity, Cleft palate |
ORPHA:1234 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ... |
ORPHA:90363 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Pneumonia, Edema, Respiratory tract infection, Dyspnea, Myocarditis, Hyperte... |
ORPHA:544482 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
| Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... |
ORPHA:330021 |
| Familial Mediterranean Fever |
|
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Pleural effusion, Pleuritis, Ery... |
OMIM:249100 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Dyspnea, Congestive heart failure, Xerostomia, Arthritis, Pulmonary f... |
ORPHA:220393 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:94080 |
| Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Gas... |
ORPHA:727 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... |
OMIM:614980 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cardiomyopathy, Cough |
ORPHA:86812 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Alopecia, Recurrent skin infections, Recu... |
OMIM:616576 |
| Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation, Failure to thrive |
ORPHA:370924 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing enteropathy, Chorioretinal scar |
OMIM:277175 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Congestive heart failure, Asthma, Recurrent pneumonia, Hyper... |
OMIM:309900 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Tachycardia, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... |
OMIM:616037 |
| Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Short stature, Congestive heart failure, Hydrops fetalis, Weigh... |
ORPHA:354 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Severe short stature, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair... |
ORPHA:2526 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation, Failure to thrive |
OMIM:615597 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90037 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Inguinal hernia, Corneal opacity, Athetosis, Abnormal cornea morphology, Dystonia |
ORPHA:357058 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Short stature, Congestive heart failure, Weakness of muscles of respiration |
ORPHA:52430 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Fryns Syndrome |
|
Omphalocele, Corneal opacity, Aganglionic megacolon, Congenital diaphragmatic hernia, Intestinal ... |
ORPHA:2059 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
| Leptospirosis |
|
Respiratory distress, Pericarditis, Skin rash, First degree atrioventricular block, Hepatitis, Uv... |
ORPHA:509 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Failure to thrive, Eczema, Pneumonia, Peritonitis, Abnormal left ven... |
OMIM:619991 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Aortic Arch Interruption |
|
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
| Dk1-Cdg |
|
Short stature, Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Failure to thrive |
ORPHA:91131 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Intrauterine growth retardation, Pleural effusion, Failure to thrive |
ORPHA:453499 |
| Colchicine Poisoning |
|
Respiratory distress, Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespira... |
ORPHA:31824 |
| Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Dysphagia, Umbilical hernia |
ORPHA:93399 |
| Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... |
ORPHA:185 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Developmental catara... |
ORPHA:93400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Highly arched eyebrow, Tachypnea, Low anterior hairline, Hypertension,... |
OMIM:220111 |
| Hurler-Scheie Syndrome |
|
Aortic regurgitation, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Contracture of t... |
OMIM:607015 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Aganglionic megacolon, Keratitis, Cleft palate, Hypertension, Opaci... |
OMIM:308205 |
| Hemochromatosis, Type 2B |
|
Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Short stature, Small for gestational age, Minimal change glomeruloneph... |
ORPHA:1830 |
| Werner Syndrome |
|
Sparse scalp hair, Telangiectasia of the skin, Short stature, Myocardial infarction, Abnormal hai... |
ORPHA:902 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary artery stenos... |
OMIM:265380 |
| Generalized Pustular Psoriasis |
|
Pustule, Congestive heart failure, Overweight, Cheilitis, Uveitis, Pedal edema, Obesity, Arthriti... |
ORPHA:247353 |
| Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Macroglossia, Recurrent gastroenteritis |
ORPHA:309288 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cerebellar hemorrhage, Dehydration, Tubulointerstitial nephritis, Cardiomyo... |
OMIM:251000 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... |
ORPHA:2357 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Wide nasal bridge, Short nose, Meckel diverticulum |
OMIM:190440 |
| Olmsted Syndrome 1 |
|
Flexion contracture, Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los... |
OMIM:175500 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f... |
OMIM:614299 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Chylothorax, Polyhydramnios |
OMIM:619036 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Congestive heart failure,... |
OMIM:615512 |
| Al-Gazali Syndrome |
|
Wrist flexion contracture, Failure to thrive, Corneal opacity, Sclerocornea |
OMIM:609465 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Weight loss, Salmonella... |
OMIM:209950 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive, Edema of the dorsum of feet, Edema of the dorsum of hands |
ORPHA:544503 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Syncope, Gastroesophageal reflux, Hiatus hernia |
OMIM:614618 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurr... |
OMIM:614700 |
| Gm1-Gangliosidosis, Type I |
|
Severe short stature, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Intraute... |
OMIM:230500 |
| Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure, Short stature, Obesity |
ORPHA:3077 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Anasarca, Edema |
OMIM:254900 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Failure to thrive, Left-to-right shunt, Congestive heart failur... |
ORPHA:99050 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia, Polyhydramnios |
OMIM:619971 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Palpebral edema, Skin rash, Pustule, Myocarditis, Vasculitis, Abnormal pulmonary inters... |
ORPHA:50918 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Congestive heart failure, Cardiomyopathy, Pulmonary hypoplasia, Ol... |
OMIM:616866 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Tubulointerstitial nephritis, Colitis, Alopecia, Psoriasiform der... |
ORPHA:37042 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... |
ORPHA:95459 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
| Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Apnea, Short stature, Congestive heart failure, Low ... |
ORPHA:579 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Microcornea, High palate, Iris coloboma |
ORPHA:139471 |
| Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Respiratory insu... |
ORPHA:746 |
| Tyrosinemia Type 2 |
|
Tremor, Corneal opacity |
ORPHA:28378 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis |
ORPHA:97285 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Small for gestational age, Corneal opacity, Megarectum, Abnormal left ventricular function, Astig... |
OMIM:301056 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive, Telangiectasia |
OMIM:608799 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Short stature, Congestive heart failure, Dilated cardiomyopathy, Heart murm... |
ORPHA:2326 |
| Inhalational Anthrax |
|
Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Angina pectoris, Myocardial infarction, Congestive heart failure, Growth delay |
OMIM:176670 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Cataract, Corneal opacity, Multiple lipomas, Conjunctival hyperemia |
ORPHA:2399 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation |
OMIM:314400 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Shock, Maculopapular exanthema, Skin rash, Crackles, Facial edema, Periorbi... |
ORPHA:319213 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cardiac arrest, Pustule, Dyspnea, Angioedema, Myocarditis, Hepatitis, Erythroderma, Th... |
ORPHA:139402 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Polyhydramnios |
OMIM:300219 |
| Aarskog-Scott Syndrome |
|
Congestive heart failure, High anterior hairline, Short stature |
ORPHA:915 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Dyspnea, Congestive heart failure, Cardiorespiratory arrest, Restrictive vent... |
ORPHA:26791 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive |
OMIM:226990 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios, Generalized hypertrichosis, Failure to thrive |
ORPHA:50810 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Short stature, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:254913 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Recurrent upper respiratory tract... |
ORPHA:436159 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Cataract, Corneal opacity, Ocular albinism, Athetosis, Short nose, Iris hypopigm... |
ORPHA:2719 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
| Fucosidosis |
|
Lipoatrophy, Failure to thrive, Corneal opacity |
ORPHA:349 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Sparse l... |
ORPHA:314655 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Orthostatic hypotension, Spontaneous pneumothorax, Small for gestational age, ... |
OMIM:606721 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Growth delay, Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis |
OMIM:614069 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Low anterior hairline, Fa... |
ORPHA:329178 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Rhizomelia, Small for gestational age, Polyhydramnios, Edema, Recurrent upp... |
OMIM:607143 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Growth delay, Pancreatitis |
ORPHA:289916 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, Inflamm... |
OMIM:618108 |
| Mgat2-Cdg |
|
Respiratory distress, Hydrops fetalis, Long eyelashes, Hypoplastic nipples, Arrhythmia, Reflex as... |
ORPHA:79329 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Dec... |
OMIM:608013 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Mesomelic short stature, P... |
OMIM:184260 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive, Cerebral ischemia |
ORPHA:927 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:89844 |
| Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Short stature, Failure to thrive in infancy, Congestive heart f... |
OMIM:601808 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Decreased corne... |
OMIM:229200 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... |
ORPHA:137914 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Congestive heart failure, Weight loss, Joint swelling, Cardiomyopathy, Arthr... |
ORPHA:465508 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Short stature, Neonatal asphyxia, Congestive heart failure, Low anterior hairline, Respiratory in... |
OMIM:608779 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Weight loss |
OMIM:275000 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy |
OMIM:606703 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Joint swel... |
OMIM:612852 |
| Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventricular block, Br... |
OMIM:601005 |
| Hurler Syndrome |
|
Aortic regurgitation, Inguinal hernia, Corneal opacity, Flexion contracture, Wide nasal bridge, M... |
OMIM:607014 |
| Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... |
ORPHA:98897 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Hernia, Developmental cataract |
OMIM:616603 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
| Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
| Omenn Syndrome |
|
Alopecia, Pneumonia, Edema, Thyroiditis, Erythroderma, Failure to thrive, Aplasia/Hypoplasia of t... |
ORPHA:39041 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Congenital diap... |
ORPHA:2092 |
| Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Short stature, Cardiac arrest, Congestive heart failure, Low an... |
OMIM:212720 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Short stature, Pneumonia, Bronchiectasis, Chronic bronchitis, Failure to thrive |
OMIM:242860 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure |
OMIM:300886 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Otitis media, Chronic oral candidiasis, ... |
ORPHA:169160 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Intraventri... |
ORPHA:420741 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... |
ORPHA:3342 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Growth delay, Bradycardia, Pulmonary arterial hypertension, Failure to thrive |
OMIM:619272 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia |
ORPHA:464370 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis, Epididymitis,... |
ORPHA:183675 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Dyspnea, Congestive heart failure, Bronchiectasis, Mitral regurgitation, Em... |
OMIM:123700 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Failure to thrive, Polyhydramnios, Congestive heart failure, Intrauterine g... |
OMIM:617156 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90033 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Cardiac arrest, Hypertrophic cardiomyopathy, Inspiratory stridor, Irregular... |
OMIM:604377 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p... |
ORPHA:98905 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Respiratory insufficiency, R... |
ORPHA:1880 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Short stature, Generalized hirsutism, Edema |
ORPHA:2505 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, High palate, Iris hypopigmentation |
ORPHA:284160 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Thi... |
ORPHA:505248 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Hypertrichosis, Generalized edema |
OMIM:271225 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Obesity, Hypertension, Aniridia |
OMIM:612469 |
| Mitchell-Riley Syndrome |
|
Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus... |
OMIM:615710 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Congenital Generalized Lipodystrophy |
|
Congestive heart failure, Low anterior hairline, Low posterior hairline, Hypertrophic cardiomyopa... |
ORPHA:528 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Facial hirsutism, Hypertrophic cardiomyop... |
OMIM:619383 |
| Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Submucous cleft hard palate, Cleft palate, Microcornea, Iris coloboma,... |
ORPHA:899 |
| Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Increased nuchal translucency, Disproportionate short-trunk short stature, ... |
OMIM:608022 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Dyspnea, Growth delay, Respiratory failure, Thin eyebrow, F... |
ORPHA:2707 |
| Sanjad-Sakati Syndrome |
|
Intestinal obstruction, Astigmatism, Corneal opacity, Abnormal dental enamel morphology |
ORPHA:2323 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
| Pancreatitis, Hereditary |
|
Pleural effusion, Pancreatitis |
OMIM:167800 |
| Melioidosis |
|
Shock, Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, ... |
ORPHA:31202 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia, Respiratory insufficiency |
ORPHA:682 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomyop... |
OMIM:615895 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Chronic irritative conjunctivitis, Periorbital edema, Episodic respirato... |
ORPHA:141083 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Rhizomelia, Polyhydramnios, Stillbirth, Pulmonary hypoplasia, Neonatal shor... |
OMIM:151210 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... |
ORPHA:209905 |
| Farber Disease |
|
Respiratory distress, Failure to thrive, Short stature, Nodular pattern on pulmonary HRCT, Atelec... |
ORPHA:333 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Tracheoesophageal fistula, Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
| Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... |
ORPHA:97214 |
| Odontochondrodysplasia |
|
Respiratory distress, Short stature |
ORPHA:166272 |
| Multiple Myeloma |
|
Pleural effusion, Weight loss |
ORPHA:29073 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... |
OMIM:244400 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea... |
OMIM:256800 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Severe short stature, Congestive heart failure, Pneumothor... |
ORPHA:90349 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cerebral edema |
OMIM:611126 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Congestive heart failure, Premature graying of hair, Intracrani... |
ORPHA:363618 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Bradycardia, Large for gestational age |
ORPHA:226313 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive |
OMIM:618201 |
| Leigh Syndrome |
|
Alopecia, Eczema, Congestive heart failure, Growth delay, Hypertrophic cardiomyopathy, Respirator... |
ORPHA:506 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Vasculitis, Bronchiect... |
ORPHA:1572 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Protein-losing enteropathy, Hyperinsulinemic hy... |
ORPHA:79319 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Weight loss, Hematochezia,... |
ORPHA:2070 |
| Immunodeficiency 58 |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Short stature, Eczema, A... |
OMIM:618131 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Short stature, Myocardial infarction, Congestive heart failure, Di... |
OMIM:208000 |
| Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma, Congenital diaphragmatic hernia |
ORPHA:1647 |
| Oculoskeletodental Syndrome |
|
Small for gestational age, Elbow flexion contracture, Wide nasal bridge, Developmental cataract, ... |
OMIM:618440 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Reactive hypoglycemia, Malabsorption, Obesity, Hypoinsulinemia |
OMIM:600955 |
| Listeriosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, ... |
ORPHA:533 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, High palate, Opacification of the corneal stroma, Dystonia, Umbilical hernia, Failure t... |
OMIM:251290 |
| Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Skin rash, Edema, Recurrent pharyngitis, Myocarditis, Va... |
ORPHA:2331 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Generalized hirsutism, Hypertension, Hypertrophic cardiomyopathy, Pancr... |
ORPHA:79083 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Tachycardia, Opisthotonus, Hypertension |
OMIM:184850 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
| Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity |
ORPHA:93474 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Pancreatitis, Generalized hirsutism |
ORPHA:2348 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ta... |
ORPHA:39812 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Medial flaring of the eyebrow, Persistent fetal circulation, Tricuspid regu... |
OMIM:612863 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
| Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal fla... |
ORPHA:90051 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Telangiectasia, Umbilical hernia, High palate, Axenfeld anomaly, Opacification of the corneal str... |
OMIM:612582 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Short stature |
OMIM:300484 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Short stature, Eczema, Congestive heart failure, Recurrent ... |
ORPHA:391487 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Fryns Syndrome |
|
Polyhydramnios, Large for gestational age, Stillbirth, Chylothorax, Pulmonary hypoplasia, Facial ... |
OMIM:229850 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Polyhydramnios |
OMIM:202650 |
| Aorto-Ventricular Tunnel |
|
Congestive heart failure, Heart murmur |
ORPHA:3400 |
| De Barsy Syndrome |
|
Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy, Athetosis, High palate, Umbilical hern... |
ORPHA:2962 |
| Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hypoplasia of the iris, Lipoma, Limbal dermoid, Multiple central nervous system lip... |
OMIM:613001 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Congenital diaphragmatic hernia, Sclerocornea, Junctional ectopic tachycardia, Cleft pa... |
OMIM:309801 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
| Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Corneal opacity, Lipoatrophy, Corneal stromal edema, Keloids, Joint contractur... |
OMIM:601812 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
| Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... |
ORPHA:348 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Brittle hair, Palpebral edema, Sparse eyebrow, Congestive heart failure, Re... |
OMIM:252500 |
| Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
| Incontinentia Pigmenti |
|
Alopecia, Skin rash, Telangiectasia of the skin, Supernumerary nipple, Short stature, Keratitis, ... |
ORPHA:464 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:619793 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Corneal opacity, Grayish enamel, Mitral regurgitation, Opacification of the corn... |
OMIM:253010 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Eczema, Congestive heart fa... |
ORPHA:508542 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617102 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Cataract, Limb joint contracture |
OMIM:620327 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
| Bloom Syndrome |
|
Skin rash, Pneumonia, Bronchitis, Sparse eyelashes, Respiratory tract infection, Small for gestat... |
ORPHA:125 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Cerebral edema |
OMIM:608033 |
| Noonan Syndrome 1 |
|
Short stature, Failure to thrive in infancy, Lymphedema, Postnatal growth retardation, Synovitis,... |
OMIM:163950 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Opacification of the corneal stroma |
OMIM:215250 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:276621 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Short stature, Sparse eyebrow, Low posterior hairline |
OMIM:606164 |
| Pachyonychia Congenita |
|
Respiratory distress, Alopecia, Angular cheilitis, Nail dystrophy, Failure to thrive |
ORPHA:2309 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Abnormal ple... |
ORPHA:537 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Dehydration, Nephritis, Infectious e... |
ORPHA:2552 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Steatorrhea, Protein-losing enteropathy, Hyperinsulinemic hypoglycemia, Failure ... |
OMIM:602579 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, ... |
OMIM:307200 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Alopecia, Recurrent skin infections, Pneumonia, Edema, Dyspnea, Pneumothora... |
ORPHA:79404 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Hype... |
OMIM:220110 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Failure to thrive |
OMIM:615595 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory tract infection, Atelecta... |
ORPHA:365 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia |
ORPHA:319552 |
| Mucopolysaccharidosis Type 7 |
|
Umbilical hernia, Inguinal hernia, Corneal opacity |
ORPHA:584 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... |
ORPHA:911 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Intrauterine growth retardation, Congestive heart failure, Cerebral edema |
OMIM:619355 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure |
OMIM:266500 |
| Hurler Syndrome |
|
Corneal opacity, Camptodactyly of finger, Angina pectoris, Wide nasal bridge, Macroglossia, Cardi... |
ORPHA:93473 |
| Gomez-Lopez-Hernandez Syndrome |
|
Short nose, High palate, Opacification of the corneal stroma |
OMIM:601853 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Aortic v... |
ORPHA:324410 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Eczema, Congestive heart failure, Hypotension, Arrhythmia, Abnormal pattern of respiration |
ORPHA:428 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis... |
ORPHA:486 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Small for gestational age, Failure to thr... |
ORPHA:1199 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Abnormal dental enamel morphology, Hernia, Grayish enamel |
ORPHA:582 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Cleft palate, Microglossia, Failure to thrive, Short nose |
ORPHA:364577 |
| Kindler Epidermolysis Bullosa |
|
Corneal opacity, Abnormal dental enamel morphology, Camptodactyly of finger, Esophageal stricture... |
ORPHA:2908 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... |
OMIM:300952 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Wide nasal bridge, Cleft palate, High palate, Camptodactyly |
OMIM:614230 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Cough, Recurrent cutaneous fungal infe... |
ORPHA:276 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Cleft palate, Buphthalmos, Congenital contracture, Peters anomaly, Meg... |
OMIM:236670 |
| Geleophysic Dysplasia 3 |
|
Short stature, Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Mitral regurgitation |
OMIM:617809 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
| Monosomy 18Q |
|
Left-to-right shunt, Short stature, Congestive heart failure, Low anterior hairline, Growth delay... |
ORPHA:1600 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Cardiac conduction abnormality, Dehydration, Abnormal T-wave, Cardio... |
ORPHA:2131 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Umbilical hernia, Astigmatism, Sclerocornea |
ORPHA:2095 |
| Wilson Disease |
|
Kayser-Fleischer ring, Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Otitis m... |
OMIM:613179 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Cardiomyopathy, Protein-losing enteropathy |
ORPHA:79327 |
| Alg6-Cdg |
|
Macroglossia, Failure to thrive, Protein-losing enteropathy |
ORPHA:79320 |
| Infantile Krabbe Disease |
|
Respiratory distress, Cachexia, Abnormal heart rate variability, Respiratory failure, Failure to ... |
ORPHA:206436 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Failure to thrive, Corneal opacity, Small for gestational age, Ankle flexio... |
ORPHA:464311 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Cataract, Pyloric stenosis, Developmental cataract, Meckel diverticulum |
OMIM:616395 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Intrauterine growth retardation, Neonatal respiratory distress, Recurr... |
ORPHA:79243 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia, Cough |
ORPHA:216866 |
| Kniest Dysplasia |
|
Respiratory distress, Rhizomelia, Tracheomalacia, Disproportionate short-trunk short stature, Rec... |
OMIM:156550 |
| Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Pneumonia, Edema, Chilblains, Pericardial effusion, Hematemesis, V... |
OMIM:615846 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia of the eyebrow, Polyhydramnios |
ORPHA:990 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... |
ORPHA:75565 |
| Vici Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Albinism, Postnatal growth retardatio... |
OMIM:242840 |
| Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Short stature, Congestive heart failure, High anterior hairline... |
OMIM:182250 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Corneal opacity, Small for gestational age, Py... |
ORPHA:464306 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Restrictive ventilatory defect, Recurrent pneumonia, Arterial rupture, Congestive heart failure |
ORPHA:1900 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Gene... |
ORPHA:280365 |
| Mucopolysaccharidosis Type 6 |
|
Macroglossia, Failure to thrive, Hernia, Opacification of the corneal stroma |
ORPHA:583 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l... |
ORPHA:247691 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Sparse scalp hair, Severe short stature, Keratitis, Xerostomia, Decreased b... |
ORPHA:1051 |
| Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca |
OMIM:260450 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Thick eyebrow, Short stature, Thick hair, Highly arched eyebrow, Congestive heart fai... |
ORPHA:444077 |
| Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Cleft palate, High palate, Arthrogryposis multiplex con... |
ORPHA:96061 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
| Achondroplasia |
|
Respiratory distress, Rhizomelia, Polyhydramnios, Upper airway obstruction, Pulmonary hypoplasia,... |
OMIM:100800 |
| Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, Growth delay, Interstitial pneumonitis, Chronic... |
OMIM:616433 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... |
ORPHA:98914 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Py... |
OMIM:242700 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... |
OMIM:164310 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Cataract, Brushfield spots, Cleft palate, Opacification of the corneal stroma,... |
OMIM:214110 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Camptodactyly of finger, Intestinal malrotation, Cleft palate, High palate |
ORPHA:99776 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Tricuspid regurgitation, Corneal opacity, Flexion contracture, Macroglossia, Car... |
OMIM:253200 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Cataract, Corneal opacity, Cleft palate, Colon cancer... |
ORPHA:1052 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive, Dehydration |
OMIM:251110 |
| Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy, Hypoglycemia |
ORPHA:95428 |
| Moebius Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Dysphagia, Arthrogr... |
ORPHA:570 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Short stature, Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract i... |
OMIM:615952 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure |
ORPHA:75564 |
| Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
| Mungan Syndrome |
|
Tricuspid regurgitation, Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Pulmo... |
OMIM:611376 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Short stature, Respiratory insufficiency, Hypotension, Arr... |
ORPHA:2135 |
| Dietary Iron Overload Disease |
|
Viral hepatitis, Peritonitis, Hepatitis, Congestive heart failure |
ORPHA:139507 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Corneal opacity, Abnormal dental enamel morphology, C... |
ORPHA:2556 |
| Chylomicron Retention Disease |
|
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:29072 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Short stature, Pneumonia, Raynaud phenomenon, Joint swelling, R... |
OMIM:607944 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure |
ORPHA:137608 |
| Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Flexion contracture, Macroglossia, Cardiomyopathy, Umbilical hernia |
OMIM:253220 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
| Spondyloenchondrodysplasia |
|
Skin rash, Pneumonia, Short stature, Raynaud phenomenon, Vasculitis, Disproportionate short-trunk... |
ORPHA:1855 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Congestive heart failure, Weight loss, Tubulointerstitial nephritis,... |
ORPHA:85450 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung morphology,... |
ORPHA:141127 |
| Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Pul... |
ORPHA:1686 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Scarring, Atrophic scars, Smooth tongue, Enamel hypoplasia, Failure to thrive |
ORPHA:79396 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... |
ORPHA:79282 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalangeal joint c... |
OMIM:259600 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
| Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Pulmonic ste... |
OMIM:115470 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Short stature, Sparse axillary hair, Erythema nodosum, Congestive heart failure, Ep... |
OMIM:256040 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Unilateral breast hypoplas... |
OMIM:300968 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
| Mucopolysaccharidosis Type 3 |
|
Inguinal hernia, Cataract, Corneal opacity, Malabsorption, Flexion contracture, Atrioventricular ... |
ORPHA:581 |
| Chops Syndrome |
|
Curly hair, Thick eyebrow, Short stature, Thick hair, Synophrys, Obesity, Anomalous pulmonary ven... |
OMIM:616368 |
| Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Short stature, Sparse axillary hair, Sparse pubic hair, Congestive heart failure... |
OMIM:181270 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... |
OMIM:614878 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Postnatal growth retardation, Congestive heart failure, Bronchiectasis, Pye... |
ORPHA:90348 |
| Biotinidase Deficiency |
|
Respiratory distress, Alopecia, Apnea, Skin rash, Conjunctivitis, Eczematoid dermatitis, Hyperven... |
ORPHA:79241 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Recurrent upper respiratory tract infections, Alopecia of scalp, Otitis media, Failure... |
OMIM:602450 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... |
ORPHA:51636 |
| Schimke Immunoosseous Dysplasia |
|
Small for gestational age, Transient ischemic attack, Wide nasal bridge, Hypertension, Astigmatis... |
OMIM:242900 |
| Abetalipoproteinemia |
|
Congestive heart failure, Keratoconjunctivitis sicca, Prolonged prothrombin time, Respiratory fai... |
ORPHA:14 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Multiple joint contractures, Corneal opacity, Posterior subcapsular cataract, Fl... |
ORPHA:536471 |
| Congenital Disorder Of Deglycosylation 1 |
|
Corneal opacity, Oral-pharyngeal dysphagia, Athetosis, Decreased body weight, Impaired oropharyng... |
OMIM:615273 |
| Tangier Disease |
|
Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
| Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Weight loss, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
| Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Dyspnea, High-output congestive heart failure, Dilated cardiomyopat... |
ORPHA:231226 |
| Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Uveitis, Dehydration, Ulcerati... |
ORPHA:810 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic or... |
ORPHA:83471 |
| Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity, High, narrow palate, Wide nasal bridge, Macroglossia, Pulmonic stenosis |
ORPHA:488632 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Palpi... |
ORPHA:2847 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Abse... |
OMIM:305100 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... |
OMIM:618426 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Encephalocraniocutaneous Lipomatosis |
|
Lipodystrophy, Corneal opacity, Multiple lipomas, Pulmonary arterial hypertension, Aortic valve s... |
ORPHA:2396 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Supernumerary nipple |
ORPHA:2519 |
| Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis |
OMIM:614328 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... |
ORPHA:48435 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Carpenter Syndrome 1 |
|
Omphalocele, Obesity, Microcornea, High palate, Opacification of the corneal stroma, Camptodactyl... |
OMIM:201000 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Short stature, Respirat... |
ORPHA:2968 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive, Dehydration |
OMIM:251100 |
| 3Mc Syndrome 3 |
|
Corneal opacity, Cleft palate |
OMIM:248340 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
| Limb Body Wall Complex |
|
Ventral hernia, Corneal opacity, Congenital diaphragmatic hernia, Wide nasal bridge, Cleft palate... |
ORPHA:2369 |
| Cholera |
|
Tachycardia, Tachypnea, Dehydration, Hypovolemic shock, Aspiration pneumonia, Hypotension, Hyperv... |
ORPHA:173 |
| Wilson Disease |
|
Dystonia, Hepatocellular carcinoma, Tremor, Esophageal varix, Hand tremor, Dysphagia, Kayser-Flei... |
OMIM:277900 |
| Gitelman Syndrome |
|
Respiratory distress, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Delayed pu... |
ORPHA:358 |
| Omenn Syndrome |
|
Alopecia, Failure to thrive, Pneumonia, Erythroderma |
OMIM:603554 |
| Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... |
ORPHA:536467 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
| Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Gastroesophageal reflux, Bradycardia |
OMIM:608800 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Failure to thrive in infancy, Portal hypertension, Chronic muco... |
ORPHA:79124 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Macroglossia, Mitral regurgitation, Astigmatism,... |
ORPHA:309282 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic ... |
ORPHA:79076 |
| Plague |
|
Respiratory distress, Chapped lip, Tachycardia, Skin rash, Edema, Erythema nodosum, Lymphadenitis... |
ORPHA:707 |
| Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis |
OMIM:619652 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Joint contracture, Failure to thrive, Exaggerated startle response |
OMIM:616881 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Short stature, ... |
ORPHA:177907 |
| Williams Syndrome |
|
Myocardial infarction, Tremor, Rectal prolapse, Gastroesophageal reflux, Megalocornea, Abnormal d... |
ORPHA:904 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Decreased body weight, Telangiectasia of the skin, Short statur... |
ORPHA:79474 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Congestive heart failure, Pneumothorax, Right bundle branch block, Hypertrophic cardiomyopathy, F... |
OMIM:617403 |
| Carney Complex, Type 1 |
|
Red hair, Congestive heart failure, Hirsutism |
OMIM:160980 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Short stature, Small for gestational age, Fa... |
OMIM:260400 |
| Hyperekplexia 1 |
|
Umbilical hernia, Inguinal hernia, Exaggerated startle response |
OMIM:149400 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... |
ORPHA:1018 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Scarring, Intestinal malrotation, Hiatus hernia, C... |
OMIM:601776 |
| Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failu... |
ORPHA:91347 |
| Lathosterolosis |
|
Cataract, Microcornea, High palate, Opacification of the corneal stroma, Short nose, Failure to t... |
ORPHA:46059 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Dystonia, Small for gestational age, Hiatus hernia, Hypoplasia of the iris, High palate... |
OMIM:251300 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... |
OMIM:225400 |
| Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Seckel Syndrome 10 |
|
Hypertension, Acute pancreatitis, Severe short stature, Congestive heart failure |
OMIM:617253 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Failure to thrive, Short stature, Aspiration pneumonia |
OMIM:616430 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Protein-losing enteropathy, Camptodactyly |
OMIM:608104 |
| Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Premature ... |
ORPHA:423 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Pneumonia, Polyhydramnios, Intrauterine growth retardation, Failure to thrive |
OMIM:603467 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Contractures of the large joints, High palate, Dystonia, Impaired o... |
ORPHA:521426 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure... |
ORPHA:99094 |
| Dyggve-Melchior-Clausen Disease |
|
Failure to thrive, Corneal opacity |
ORPHA:239 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Short stature |
OMIM:610536 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Asthma, Recurrent pneumoni... |
OMIM:102700 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, High palate, Raynaud phenomenon, Insulin resistan... |
ORPHA:740 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Angina pectoris, Dyspnea, Low-output congestive heart failu... |
ORPHA:565612 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, High palate, Wide nasal bridge, Dystonia |
ORPHA:438216 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Prolonged prothrombin time, Hypopnea, Hypertrichosis |
ORPHA:2330 |
| Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Growth delay, Hypertrophic cardiom... |
ORPHA:17 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Cataract, Dilated cardiomyopathy, Flexion contracture, Pulmonic ste... |
OMIM:253800 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Small for gestational age, Birth length less than 3rd percentile, Long eyel... |
OMIM:224690 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Dy... |
OMIM:617301 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Dyspnea, Premature graying of hair, Interstitial pneumonitis, Pulmonary fibrosis, Nail ... |
OMIM:127550 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... |
OMIM:600802 |
| Beta-Thalassemia Major |
|
Failure to thrive in infancy, Dyspnea, High-output congestive heart failure, Dilated cardiomyopat... |
ORPHA:231214 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture |
OMIM:609541 |
| Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
| Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension |
ORPHA:1555 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Gastroesophageal reflux |
OMIM:620114 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction |
OMIM:274150 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature |
OMIM:183900 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Thick eyebrow, Osteomyelitis, Palpebral edema, Overweight, Congestive heart... |
OMIM:619475 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Flexion contracture, Wide nasal bridge... |
ORPHA:217085 |
| Tarp Syndrome |
|
Failure to thrive, Subdural hemorrhage, Wide nasal bridge, Cleft palate, Tongue nodules, Athetosi... |
OMIM:311900 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
| Marfan Syndrome |
|
Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Congestive heart failure, Emphysema, Pu... |
ORPHA:558 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Cardiac conduction abnormality, Dyspnea, Episodic respiratory distress, Dilated cardiomyop... |
ORPHA:255210 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Cataract, Corneal opacity, Abnormal dental enamel morphology, Malabsorption, Abn... |
ORPHA:534 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Contractures of the large joints, High palate, Dysphagia, Short nos... |
OMIM:617527 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures |
ORPHA:320406 |
| Marshall-Smith Syndrome |
|
Brittle hair, Apnea, Short stature, Highly arched eyebrow, Synophrys, Recurrent upper respiratory... |
OMIM:602535 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Flexion contracture, Wide nasal bridge... |
ORPHA:217093 |
| Adnp Syndrome |
|
Respiratory distress, Sparse scalp hair, Short stature, Recurrent upper respiratory tract infecti... |
ORPHA:404448 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Failure to thrive, Short stature, Osteomyelitis leading to amputation due t... |
OMIM:256810 |
| Gaucher Disease, Type Ii |
|
Apnea, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumonia |
OMIM:230900 |
| Mirage Syndrome |
|
Short stature, Intracranial hemorrhage, Aspiration pneumonia, Decreased body weight, Intrauterine... |
OMIM:617053 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Breast ap... |
ORPHA:2554 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, High palate, Truncal titubation |
OMIM:618056 |
| Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Cardiomyopathy, Aspiration pneumonia, Intrauterine growth retardation, Hirsutism |
ORPHA:79255 |
| Serkal Syndrome |
|
Malrotation of small bowel, Pulmonic stenosis, Congenital diaphragmatic hernia |
ORPHA:139466 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Mosaic Trisomy 1 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... |
ORPHA:1692 |
| Mucopolysaccharidosis Type 2 |
|
Inguinal hernia, Corneal opacity, Wide nasal bridge, Contractures of the large joints, Macrogloss... |
ORPHA:580 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Highly arc... |
OMIM:616268 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Short nail, Polyhydramnios, Tracheobr... |
OMIM:114290 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Skin rash, Pneumonia, Abnormality of body weight, Osteoarthritis, Increased body weight... |
ORPHA:2298 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Cataract, Small for gestational age, Tricuspid regurgitation, Brushfield sp... |
OMIM:614866 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Buphthalmos, Anteriorly placed anus, Keratoconjunctivitis sic... |
ORPHA:495875 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Sparse sca... |
OMIM:614748 |
| Peters Plus Syndrome |
|
Intestinal fistula, Inguinal hernia, Cataract, Corneal opacity, Anal atresia, Cleft palate, Micro... |
ORPHA:709 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure |
OMIM:619259 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Wide nasal bridge, Microcornea, Astigmatism, Opacification of the corn... |
OMIM:600268 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Intrauterine growth retardation, Prolonged G2 phase of cell cycle, Sho... |
OMIM:227645 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Joint contracture, Failure to thrive, Exaggerated startle response |
OMIM:617864 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Corneal opacity, Camptodactyly of finger, Corneal erosion, Umbilical hernia |
ORPHA:920 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption, Failure to thrive, Epistaxis |
OMIM:211600 |
| Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... |
OMIM:219700 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Growth delay, Short stature |
OMIM:613309 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Bronchiect... |
OMIM:619381 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Corneal opacity, Cleft palate, High palate, Submucous cleft sof... |
OMIM:608670 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Pneumonia |
ORPHA:169090 |
| Marfan Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Emphysema, Pneumothorax,... |
OMIM:154700 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Failure to thrive, Acholic stools, Steatorrhea |
OMIM:607765 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Broad eyebrow, Thick eyebrow, Short stature, Small for gestational age, Pol... |
OMIM:180849 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Weill-Marchesani Syndrome 2 |
|
Short stature, Proportionate short stature, Congestive heart failure, Mitral regurgitation, Pulmo... |
OMIM:608328 |
| Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Prolonged G2 phase of cell cycle, Short stature |
OMIM:600901 |
| Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Apnea, Short stature, Supernumerary nipple, Rhizomelic leg shor... |
ORPHA:397715 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Protruding tongue, Brushfield spots, High, narrow palate, Macroglossia, High palate, Op... |
OMIM:214100 |
| Aorta Coarctation |
|
Pulmonary arterial hypertension, Hypertension, Congestive heart failure |
ORPHA:1457 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic... |
ORPHA:83617 |
| Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia, Short stature |
OMIM:258865 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Hypovolemia |
ORPHA:2290 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral regurgitation |
ORPHA:309155 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Failure to thrive, Hepatocellular carcinoma |
OMIM:601847 |
| Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Prolonged G2 phase of cell cycle, Short stature |
OMIM:227650 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Wide nasal bridge, Cleft palate, Protein-losing enteropathy, High palate |
OMIM:235255 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... |
ORPHA:2020 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Aceruloplasminemia |
|
Congestive heart failure |
ORPHA:48818 |
| Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Anal atresia, Inguinal hernia, Anal stenosis, Flexion contracture, Cleft palate, Pop... |
OMIM:263650 |
| Immunodeficiency 31C |
|
Villous atrophy, Diabetes mellitus, Weight loss, Gastrointestinal eosinophilia, Protein-losing en... |
OMIM:614162 |
| Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Multiple lipomas, Hypertension, Lisch nodules, Neoplasm of the gastroi... |
ORPHA:636 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Camptodactyly o... |
ORPHA:2273 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Polyhydramnios |
OMIM:618188 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Tremor, Developmental cataract, M... |
OMIM:133540 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension |
OMIM:123790 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... |
OMIM:619482 |
| Neutral Lipid Storage Myopathy |
|
Short stature, Chronic pancreatitis, Congestive heart failure, Obesity, Cardiomyopathy, Cholecyst... |
ORPHA:98908 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Cataract, Corneal opacity, Cleft palate |
OMIM:274000 |
| Cornelia De Lange Syndrome 1 |
|
Short stature, Pneumonia, Curly eyelashes, Highly arched eyebrow, Synophrys, Low posterior hairli... |
OMIM:122470 |
| Van Den Ende-Gupta Syndrome |
|
Sclerocornea, High, narrow palate, Elbow flexion contracture, Cleft palate, Knee flexion contract... |
OMIM:600920 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
| Geleophysic Dysplasia 1 |
|
Short stature, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis |
OMIM:231050 |
| Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Sclerocornea, Wide nasal bridge, Cleft palate, Hernia, Megalocor... |
ORPHA:280 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Hypotension, Telangiectasia |
ORPHA:454831 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Smith-Lemli-Opitz Syndrome |
|
Cataract, Aganglionic megacolon, Abnormal dental enamel morphology, Congenital diaphragmatic hern... |
ORPHA:818 |
| Mucopolysaccharidosis, Type Iva |
|
Inguinal hernia, Opacification of the corneal stroma, Grayish enamel |
OMIM:253000 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Cataract, Corneal opacity, Camptodactyly ... |
ORPHA:3455 |
| Degcags Syndrome |
|
Polyhydramnios, Synophrys, Low anterior hairline, Premature graying of hair, Intrauterine growth ... |
OMIM:619488 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Corneal opacity, Cachexia, Esophageal varix, Gastric ulcer, Pul... |
ORPHA:2072 |
| Stuve-Wiedemann Syndrome 1 |
|
Elbow flexion contracture, Dysphagia, Knee flexion contracture, Pulmonary arterial hypertension, ... |
OMIM:601559 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption, Failure to thrive |
OMIM:214950 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Corneal opacity, Wide nasal bridge, Cleft palate, Abnormalit... |
OMIM:219000 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis |
ORPHA:210122 |
| Lissencephaly Due To Lis1 Mutation |
|
Polyhydramnios, Aspiration pneumonia |
ORPHA:95232 |
| Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, High-output congestive heart failure |
ORPHA:231222 |
| Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Postnatal growth retardation, Recurrent upper respiratory tract... |
ORPHA:1465 |
| Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Arrhythmia, Infectious encephalitis, ... |
ORPHA:68 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Short stature, Asthma, Intrauterine growth retardation, Oligohydramnios |
ORPHA:3206 |
| Gaucher Disease |
|
Corneal opacity, Tremor, Pulmonary arterial hypertension, Dysphagia, Arthrogryposis multiplex con... |
ORPHA:355 |
| Sandhoff Disease |
|
Macroglossia, Exaggerated startle response, Orthostatic hypotension |
OMIM:268800 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Alopecia, Keratitis, Myocarditis, Congestive heart failure, Weight lo... |
ORPHA:3385 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Inguinal hernia, Intestinal obstruction, Corneal opacity, Abnormal dental e... |
ORPHA:666 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Small for gestational age, Sclerocornea, High palate, Failure to thrive |
OMIM:619869 |
| Larsen Syndrome |
|
Corneal opacity, Cleft palate |
OMIM:150250 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Dehydration, Hypertension, Bradycardia, Hypotension, Aspiration ... |
ORPHA:94093 |
| Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Cataract, Sclerocornea |
OMIM:206900 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, X... |
ORPHA:2907 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |
| Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Absent nipple, Tricuspid regurgitation, Short stature, Small for gestational a... |
OMIM:612289 |
| Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure, Failure to thrive |
ORPHA:94147 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Recurrent aspiration pneumonia, Short stature |
OMIM:300472 |
| Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
| X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
| Chime Syndrome |
|
Corneal opacity, Cleft palate |
ORPHA:3474 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis |
ORPHA:231154 |
| Metachromatic Leukodystrophy |
|
Dystonia, Abnormal stomach morphology, Tremor, Neoplasm of the gallbladder, Abnormal duodenum mor... |
ORPHA:512 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Polyhydramnios, Total anomalous pulmonary venous r... |
OMIM:306955 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Small for gestational age, Pulmonary artery stenosis, Pulmonic stenosis, In... |
ORPHA:2255 |
| Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Prolonged G2 phase of cell cycle, Short stature |
OMIM:227646 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Severe short stature, Rhizomelia, Growth delay, Failure to thrive |
OMIM:166250 |
| Diamond-Blackfan Anemia 1 |
|
Short stature, Tricuspid stenosis, Congestive heart failure, Intrauterine growth retardation, Fai... |
OMIM:105650 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Cataract, Tremor, Atypical scarring of skin... |
OMIM:216400 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Proboscis Lateralis |
|
Cataract, Corneal opacity, Microcornea, High palate, Iris coloboma |
ORPHA:141099 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Failure to thrive, Gastroesophageal reflux |
OMIM:615574 |
| Meckel Syndrome |
|
Cataract, Aplasia/Hypoplasia of the tongue, Sclerocornea, Cleft palate, Furrowed tongue, Microcor... |
ORPHA:564 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Dysphagia, Laryngeal dystonia |
ORPHA:845 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Short... |
ORPHA:508488 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Transient ischemic attack, Failure to thrive in infancy, Polyhydramnios, Ed... |
ORPHA:51608 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... |
ORPHA:805 |
| Shwachman-Diamond Syndrome |
|
Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Short stature, Growth delay, Failure to t... |
ORPHA:811 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Pneumonia |
ORPHA:90790 |
| Trisomy 8P |
|
Multiple joint contractures, Malrotation of small bowel, Cleft palate, Heart murmur, Astigmatism,... |
ORPHA:264450 |
| Lathosterolosis |
|
Cataract, Wide nasal bridge, High palate, Opacification of the corneal stroma, Short nose |
OMIM:607330 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... |
ORPHA:3404 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Palpebral edema, Low posterior hairline, ... |
ORPHA:221139 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Telangiectasia, Opa... |
ORPHA:910 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Postnatal growth retardation, Recurrent aspiration pneumonia |
ORPHA:73230 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Short stature, Seborrheic dermatitis, Truncal obesity, Aspiration pneumonia, Ascites |
OMIM:301072 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal lung morphology, Urin... |
ORPHA:449395 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia, Pulmonary hypoplasia, Ge... |
ORPHA:798 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Short nose, Hypoplastic colon, Hypoplasia of the small intestine |
OMIM:200995 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Short stature, Moderately short stature |
OMIM:119600 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Obesity, Nasal flaring, Synophrys |
ORPHA:466943 |
| Miller-Dieker Lissencephaly Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Recurrent aspiration pneumonia, Polyhydramnios |
OMIM:247200 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Short stature, Pneumonia, Polyhydramnios, Highly arched eyebrow... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Short stature, Pneumonia, Polyhydramnios, Highly arched eyebrow... |
ORPHA:353277 |
| Tarp Syndrome |
|
Failure to thrive, Wide nasal bridge, Cleft palate, Glossoptosis, Abnormal duodenum morphology, T... |
ORPHA:2886 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Short stature, Pneumonia, Cardiac conduction abnormality, Asthm... |
ORPHA:353281 |
| Alobar Holoprosencephaly |
|
Central apnea, Short stature, Abnormal heart rate variability, Growth delay, Aspiration pneumonia... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Short stature, Abnormal heart rate variability, Growth delay, Aspiration pneumonia... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Short stature, Abnormal heart rate variability, Growth delay, Aspiration pneumonia... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Central apnea, Short stature, Abnormal heart rate variability, Growth delay, Aspiration pneumonia... |
ORPHA:220386 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, High palate, Protein-losing enteropathy |
ORPHA:1655 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, High, narrow palate, Pyloric stenosis, Renovascular hypertension, Glossop... |
ORPHA:3472 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Absent eyebrow, Alopecia, Pneumonia, Sparse ... |
OMIM:264090 |
| Alström Syndrome |
|
Respiratory distress, Otitis media, Short stature, Portal hypertension, Chronic pulmonary obstruc... |
ORPHA:64 |
| Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Ankle flexion contracture, Elbow flexion contracture, Wide nasal bridg... |
OMIM:268300 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Short stature, Polyhydramnios |
OMIM:617088 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Curly hair, Short stature, Cardiomyopathy, Hypoplastic nipples, Delayed pub... |
ORPHA:480880 |
| Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Sclerocornea, High, narrow palate, Obesity, Cleft palate, High p... |
OMIM:188400 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
| Doors Syndrome |
|
Respiratory distress, Polyhydramnios, Low anterior hairline, Aspiration pneumonia |
ORPHA:79500 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Aspiration pneumonia |
ORPHA:99027 |
| Niemann-Pick Disease Type C |
|
Fetal ascites, Abnormal lung morphology, Hydrops fetalis, Respiratory insufficiency, Respiratory ... |
ORPHA:646 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Hypertens... |
ORPHA:731 |
| Microphthalmia, Syndromic 6 |
|
Sclerocornea, Cleft palate, Microcornea, High palate, Microglossia, Failure to thrive, Bifid uvula |
OMIM:607932 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retar... |
ORPHA:99646 |
| Carney Complex |
|
Congestive heart failure, Increased body weight, Hypertension, Abdominal obesity, Ductal carcinom... |
ORPHA:1359 |
| Parkes Weber Syndrome |
|
Bounding pulse, High-output congestive heart failure, Subarachnoid hemorrhage |
ORPHA:90307 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Short stature, Breathing dysregulation, Aspiration pneumonia, Pulmonic st... |
ORPHA:438213 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma |
OMIM:253280 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracrani... |
ORPHA:79318 |
| Yunis-Varon Syndrome |
|
Sparse scalp hair, Absent nipple, Sparse eyelashes, Small for gestational age, Polyhydramnios, Fa... |
OMIM:216340 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:601992 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Long nose, Wide nasal bridge, High palate, Dysphagia, Short nose |
OMIM:619522 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Growth delay, Aplasia of the sweat glands, Syncope, Septic arthritis, R... |
ORPHA:642 |
| Kabuki Syndrome 1 |
|
Short stature, Highly arched eyebrow, Sparse eyebrow, Postnatal growth retardation, Prominent eye... |
OMIM:147920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
