Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal cardiovascular system physiolog... |
ORPHA:50251 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Tricuspid regurgitation, P... |
ORPHA:2414 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Pulmonary edema, Tachycardia, Hypotension, Tachypnea, Respiratory tract infection... |
ORPHA:70587 |
Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Pulmonary venous hypertension, Abnormal left ventricular function, P... |
ORPHA:75249 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Wild Type Attr Amyloidosis |
|
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... |
ORPHA:330001 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary edema, Pancreatitis, Hypotension, Vasculitis, Shock, Pneumoni... |
ORPHA:70578 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Median cleft palate, Microcornea |
ORPHA:2432 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Pancreatitis, Arrhythmia, Myocarditis, Cough, Hypotension, Pedal edema, Weight l... |
ORPHA:188 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Pneumocystosis |
|
Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Respiratory i... |
ORPHA:723 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal ... |
OMIM:612387 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Intrauterine growth retardation, Respiratory failure, Neonatal death, Congestive heart failure |
OMIM:301021 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... |
ORPHA:199241 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... |
ORPHA:79126 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Left bundle branch block, Pulmonary edema, Congestive heart failure, Hypert... |
OMIM:115197 |
Primary Effusion Lymphoma |
|
Dyspnea, Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema, Edema |
OMIM:178400 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Skin rash, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventric... |
ORPHA:542323 |
Aspergillosis |
|
Keratitis, Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Hypersensitivity pneu... |
ORPHA:1163 |
Lymphatic Malformation 7 |
|
Respiratory distress, Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss |
ORPHA:64741 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Hypertrophic card... |
OMIM:613255 |
Tularemia |
|
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Tachycardia, Cough, Pneumonia, Ple... |
ORPHA:3392 |
Avian Influenza |
|
Respiratory distress, Conjunctivitis, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothor... |
ORPHA:454836 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Intrauterine growth retardation, Eczema, Neonatal death, Pulmonary arterial... |
OMIM:619751 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Right vent... |
ORPHA:70589 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract, Cleft palate |
ORPHA:90654 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Atopic dermatitis, Crackles, Wheezing, Restrictive ventilatory defec... |
ORPHA:2902 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Ple... |
ORPHA:1041 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... |
ORPHA:45452 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... |
ORPHA:60033 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pleuritis... |
ORPHA:449280 |
Cirrhotic Cardiomyopathy |
|
Pulmonary edema, Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary ar... |
ORPHA:57777 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Follicular Lymphoma |
|
Weight loss, Lymphedema, Pleural effusion |
ORPHA:545 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... |
OMIM:619773 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Respiratory failure, Congestive heart failure, Respiratory failure requiri... |
ORPHA:132 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Predominantly lower limb lymphedema, Absent eyebrow, Alopecia, Sparse body hai... |
ORPHA:69735 |
Pontocerebellar Hypoplasia, Type 13 |
|
Asthma, Sleep apnea, Failure to thrive, Long eyelashes, Edema, Pleural effusion, Low posterior ha... |
OMIM:618606 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:612877 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Noonan Syndrome 8 |
|
Failure to thrive, Short stature, Pulmonic stenosis, Mitral regurgitation, Eczema, Large for gest... |
OMIM:615355 |
Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Airway obstruction, Skin rash, Arthritis, Cough, Angioedema, Pericardial... |
ORPHA:36412 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Absence Of The Pulmonary Artery |
|
Growth delay, Pulmonary edema, Nonproductive cough, Systolic heart murmur, Tachycardia, Orthopnea... |
ORPHA:980 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... |
ORPHA:1303 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Respiratory f... |
ORPHA:563 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... |
ORPHA:60032 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis |
OMIM:602248 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Heart block, Syncope, Dyspnea, Congestive heart failure |
ORPHA:871 |
Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Maculopapular exanthema, Pulmonary hemorrhage, Membranoproliferative glomerulo... |
OMIM:619644 |
Sandhoff Disease |
|
Failure to thrive, Recurrent respiratory infections, Congestive heart failure |
ORPHA:796 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Decreased body weight, Short stature, Polyhydramnios, Dilated cardiomyopath... |
OMIM:300580 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Pleural empyema, Constrictive pericarditis, Cough, Pleural effusion, Dyspnea, Weig... |
ORPHA:67 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Bronchiolitis, Recurrent otitis media, Obesity, Recurrent respiratory infec... |
OMIM:615993 |
Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmona... |
ORPHA:217607 |
Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... |
ORPHA:171673 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Ovarian Hyperstimulation Syndrome |
|
Hirsutism, Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, A... |
ORPHA:64739 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Mild postnatal growth retardation, Pulmonary lymphangiectasia, Chylous... |
OMIM:265300 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... |
ORPHA:99105 |
Idiopathic Achalasia |
|
Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss |
ORPHA:930 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
High palate, Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Acute infectious pneumonia, Ta... |
ORPHA:264675 |
Hemochromatosis, Type 1 |
|
Alopecia, Arrhythmia, Pleural effusion, Telangiectasia, Ascites, Cardiomyopathy, Congestive heart... |
OMIM:235200 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, ... |
ORPHA:100057 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Posterior embryotoxon, Bilateral cleft lip and palate, Iris coloboma, Cataract |
ORPHA:1473 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Failure to thrive, Pulmonary arterial hypertension, Intrauterine growth retardation, Congestive h... |
OMIM:616045 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
Cocaine Intoxication |
|
Respiratory distress, Supraventricular arrhythmia, Subarachnoid hemorrhage, Pneumothorax, Myocard... |
ORPHA:90068 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Respiratory failure, Congestive heart failure |
OMIM:616794 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Pneumonia, Respiratory failure, Decreased body weight, Palpitations... |
ORPHA:340 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Syncope, Dilated cardiomyopathy, Pulmonary arter... |
OMIM:615396 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Pulmonary edema, Gastritis, Tachycardia, Hypotension, Tachypnea, P... |
ORPHA:31826 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, General... |
ORPHA:244242 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Hypotension, Shortened PR interval, Ascites, Cardiomyopathy, Congestive heart fa... |
OMIM:261740 |
Meige Disease |
|
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... |
ORPHA:90186 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... |
OMIM:263000 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Hydrops fetalis, Myocarditis, Hypotension, Polyhydramnios, Hepat... |
ORPHA:292 |
Immunodeficiency 104 |
|
Otitis media, Eczema, Chronic mucocutaneous candidiasis, Pneumonia, Recurrent otitis media, Failu... |
OMIM:608971 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Increased left ventricular end-diastol... |
OMIM:607482 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Mucolipidosis Iv |
|
Achlorhydria, Corneal opacity, Opacification of the corneal stroma, Dystonia |
OMIM:252650 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... |
ORPHA:99106 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Nonimmune hydrops fetalis, Pleural effusion, Ascites, Prolonged prothrombin time |
OMIM:617049 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Hypertrophic cardiomyopathy, Low-output congestive heart... |
ORPHA:91130 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Hirsutism, Pulmonary edema, Fair hair, Alopecia, Polyhydramnios, Lon... |
ORPHA:79330 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... |
OMIM:619466 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Skin rash, Malar rash, Raynaud phenomenon, Alopecia, Myositis, Art... |
ORPHA:93552 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Anterior uveitis, Pleural effusion, Per... |
ORPHA:85414 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Ciliary Dyskinesia, Primary, 9 |
|
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... |
OMIM:612444 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Failure to thrive, Intrauterine growth retardation, Congestive heart failure, Bradycardia |
OMIM:619048 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Small for gestational age, Hydrops fetalis, Polyhydramnios, Pulmonar... |
OMIM:616897 |
Brittle Cornea Syndrome 2 |
|
Flat cornea, Inguinal hernia, Megalocornea, Keratoconus, Keratoglobus, Umbilical hernia, Scleroco... |
OMIM:614170 |
Gaucher Disease Type 2 |
|
Respiratory distress, Cough, Abnormal pattern of respiration, Cardiac arrest, Recurrent respirato... |
ORPHA:77260 |
Q Fever |
|
Respiratory distress, Abnormal left ventricular function, Osteomyelitis, Maculopapular exanthema,... |
ORPHA:781 |
Acute Lung Injury |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancreatitis, ... |
ORPHA:178320 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Nocardiosis |
|
Keratitis, Respiratory distress, Lymphadenitis, Pneumonia, Pericarditis, Weight loss, Respiratory... |
ORPHA:31204 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Angina pectoris, Abnormal left ventricular function, Aortic valve stenosi... |
ORPHA:2041 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Pneumot... |
ORPHA:70588 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Failure to thrive, Pulmonary edema,... |
ORPHA:137675 |
Mucolipidosis Type Iii |
|
Corneal opacity, Inguinal hernia, Cleft palate |
ORPHA:577 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Hydrops fetalis, Pulmonary embolism, Prolonged bleeding time, Abnormal... |
ORPHA:90308 |
Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpit... |
ORPHA:2038 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Postnatal growth retardation, Small for gestational age, Pulmonary hypoplas... |
OMIM:616733 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Short stature, Respiratory insufficiency, Dilated cardiomyopathy, Elevated ... |
OMIM:255160 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Hyperekplexia 2 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia, Astigmatism |
OMIM:614619 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pedal edema, Pneumonia, T... |
ORPHA:99103 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Woolly hair, Congestive heart failure |
ORPHA:65282 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... |
ORPHA:293381 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Growth delay, Congestive heart failure |
OMIM:615440 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Respiratory insufficiency, Arrhythmia, Congestive heart failure |
ORPHA:157973 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Short stature, Eczema, Lymphadenitis, Acute pancreatitis, Recurrent pneumonia, P... |
OMIM:618935 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation |
ORPHA:1832 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Intrauterine growth retardation, Severe short stature, Small for gestational age, Aspiration pneu... |
OMIM:619057 |
Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia, Failure to thrive |
OMIM:609528 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Cardiac conduction abnormal... |
ORPHA:97244 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Respiratory tract infec... |
ORPHA:567546 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:611880 |
Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Pneumonia, Hypoxemia, Prolonged bleeding time |
ORPHA:238459 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... |
ORPHA:75566 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Conges... |
ORPHA:1345 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Recurrent upper respiratory tract infections, Nail dystrophy, Atopic dermatitis, Pneumonia |
OMIM:618806 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Growth delay, Chronic bronchitis, Pneumonia |
OMIM:614069 |
Immunodeficiency 48 |
|
Failure to thrive, Eczematoid dermatitis, Recurrent respiratory infections, Pneumonia |
OMIM:269840 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:618234 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Intrauterine growth retardation, Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
Ring Chromosome 22 Syndrome |
|
Thick eyebrow, Lymphedema, Edema, Pleural effusion, Growth delay |
ORPHA:1446 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Fusariosis |
|
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Myositis, Arthritis, L... |
ORPHA:228119 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive |
OMIM:615595 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Nonimmune hydrops fetalis, Po... |
ORPHA:367 |
Polymyositis |
|
Respiratory insufficiency, Arrhythmia, Abnormal pulmonary interstitial morphology, Arthritis, Cou... |
ORPHA:732 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic ... |
ORPHA:1329 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Ovarian Fibroma |
|
Peritonitis, Ascites, Pleural effusion |
ORPHA:314473 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Tricuspid regurgitation, Heart murmur, Pedal edema, Exertional dyspnea, A... |
ORPHA:615 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Central sleep apnea, Hypopigmentation of hair, Hypertrophic cardiomyopathy, Re... |
ORPHA:70472 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Woolly hair, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive heart failure |
OMIM:605676 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Gorham-Stout Disease |
|
Edema, Pleural effusion, Osteomyelitis, Rhinorrhea |
ORPHA:73 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Pleural effu... |
OMIM:617397 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Supraventricular arrhythmia, Pancreatitis, Vasculitis in the skin, Eczema, ... |
ORPHA:3260 |
Poems Syndrome |
|
Hypertrichosis, Leukonychia, Ascites, Edema, Pleural effusion, Restrictive ventilatory defect, We... |
ORPHA:2905 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Respiratory insufficiency, Reduced vital capacity, Congestive heart failure |
OMIM:618654 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Tricuspid regurgitation, Palpitations, Midsystolic murmur, Arrhythmia, Syncope, Atrial fibrillati... |
ORPHA:1677 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... |
OMIM:619079 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:616843 |
Scorpion Envenomation |
|
Bundle branch block, Pulmonary edema, Premature ventricular contraction, ST segment depression, T... |
ORPHA:466677 |
Ovarian Fibrothecoma |
|
Hirsutism, Peritonitis, Ascites, Pleural effusion |
ORPHA:314478 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Peritonitis, Myocardial infarction, Weight loss, Pleural effusion, Ga... |
ORPHA:679 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Hypoxemia, Telangiectasia, Tra... |
ORPHA:284227 |
Idiopathic Pulmonary Fibrosis |
|
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... |
ORPHA:2032 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... |
OMIM:613694 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Sialidosis Type 2 |
|
Corneal opacity, Inguinal hernia, Flexion contracture, Tremor, Umbilical hernia |
ORPHA:87876 |
Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... |
OMIM:615373 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract, Flexion contracture |
OMIM:618815 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... |
OMIM:614399 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... |
OMIM:613424 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right sh... |
ORPHA:99095 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow ... |
ORPHA:3092 |
Erdheim-Chester Disease |
|
Joint swelling, Osteomyelitis, Skin rash, Abnormal pulmonary interstitial morphology, Cough, Pleu... |
ORPHA:35687 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
American Trypanosomiasis |
|
Skin rash, Arrhythmia, Myocarditis, Cough, Infectious encephalitis, Periorbital edema, Edema, Dys... |
ORPHA:3386 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, Arthritis, Pneumonia, Failure to thrive secon... |
OMIM:601457 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Respiratory insufficiency, Subarachnoid hem... |
OMIM:232300 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Obesity, Hypertension, Congestive heart failure |
OMIM:615703 |
Ciliary Dyskinesia, Primary, 23 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615451 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Chylothorax, Pleural effusion, Dyspnea, Respiratory f... |
ORPHA:3015 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... |
ORPHA:922 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Naxos Disease |
|
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Sudden cardiac death, Paroxysmal ven... |
ORPHA:34217 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Inguinal hernia, Corneal dystrophy |
OMIM:609141 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Fair hair, Hydrops fetalis, Ascites, Congestive heart failure |
OMIM:269920 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Oligohyd... |
ORPHA:261304 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Recurrent respiratory infections, Pneumonia |
OMIM:226990 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... |
ORPHA:90117 |
Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pre... |
ORPHA:275766 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Waldenström Macroglobulinemia |
|
Respiratory insufficiency, Retinal hemorrhage, Vasculitis, Pedal edema, Pleural effusion, Periorb... |
ORPHA:33226 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma, Flexion contracture |
OMIM:614594 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Short stature, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Bro... |
OMIM:612649 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal p... |
OMIM:181000 |
Ciliary Dyskinesia, Primary, 39 |
|
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... |
OMIM:618254 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Increased pulmonary capillary wedge pressure, Low pulse press... |
ORPHA:97292 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Babesiosis |
|
Respiratory insufficiency, Cough, Myocardial infarction, Recurrent pharyngitis, Congestive heart ... |
ORPHA:108 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Cholesterol Pneumonia |
|
Pneumonia, Cough, Tachypnea |
OMIM:215030 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, End... |
ORPHA:183 |
Behçet Disease |
|
Pancreatitis, Myocardial infarction, Increased inflammatory response, Acne, Gastrointestinal hemo... |
ORPHA:117 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Arrhythmia, Infectious encephalitis... |
ORPHA:1194 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Mulibrey Nanism |
|
Short stature, Hydrops fetalis, Recurrent lower respiratory tract infections, Growth delay, Ascit... |
OMIM:253250 |
Ciliary Dyskinesia, Primary, 27 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615504 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Polyhydramnios, Pneumon... |
ORPHA:596 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Asthma, Atopic dermatitis, Pneumonia |
OMIM:617638 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... |
OMIM:613697 |
Ogden Syndrome |
|
Apnea, Sparse eyebrow, Eczema, Long eyelashes, Pulmonary hypoplasia, Intrauterine growth retardat... |
OMIM:300855 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Hepatojugular reflux, Respiratory failure,... |
ORPHA:2302 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Irregular respiration, Respiratory paralysis, Infectious e... |
ORPHA:79139 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Hypertrichosis, Low anterior hairline, Aortic valve stenosis, Lower eyelid ... |
ORPHA:363705 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pleural effusion, Generalized edema, Growth delay, Weight loss, Ascites, Pericardial effusion |
ORPHA:90362 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal dystrophy, Corneal degeneration |
OMIM:610158 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Short stature, Low posterior hairline, Congestive heart failure |
ORPHA:261519 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... |
OMIM:619611 |
Zygomycosis |
|
Melena, Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Hematochezia, Rhinorrhe... |
ORPHA:73263 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Prostatitis, Nodular pattern on pulmonary HRCT, Peritonitis,... |
ORPHA:1546 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Bronchitis, Upper airway obstruction, Esophagitis, Pneumonia... |
ORPHA:3348 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, A... |
ORPHA:439 |
Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Opacification of the corneal stroma |
ORPHA:1643 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Decreased DLCO, Cough, Usual interstitial pneumonia, Dyspnea, Exertional... |
OMIM:178500 |
Nipah Virus Disease |
|
Respiratory distress, Hypotension, Cough, Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Failure to thrive, Hypertrophic cardiomyopathy, Respiratory failu... |
ORPHA:444013 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Ciliary Dyskinesia, Primary, 21 |
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Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis medi... |
OMIM:615294 |
Congenital Disorder Of Glycosylation, Type Iy |
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Respiratory distress, Failure to thrive |
OMIM:300934 |
Brucellosis |
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Myocarditis, Epididymitis, Pulmonary granulomatosis, Knee osteoarthritis, Pneumonia, Transient is... |
ORPHA:1304 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
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Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... |
OMIM:616414 |
Cednik Syndrome |
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Short stature, Congestive heart failure |
ORPHA:66631 |
Ciliary Dyskinesia, Primary, 7 |
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Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... |
OMIM:611884 |
Cardiomyopathy, Familial Hypertrophic 27 |
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Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgitation, Left ventr... |
OMIM:618052 |
3-Methylglutaconic Aciduria, Type V |
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Intrauterine growth retardation, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated card... |
OMIM:610198 |
Desminopathy |
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Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Concentric hypertr... |
ORPHA:98909 |
Classic Multiminicore Myopathy |
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Failure to thrive, Short stature, Right ventricular failure, Intermittent episodes of respiratory... |
ORPHA:324604 |
Noonan Syndrome 10 |
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Mitral stenosis, Sparse eyebrow, Short stature, Pulmonic stenosis, Mitral regurgitation, Pleural ... |
OMIM:616564 |
Laryngotracheal Angioma |
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Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
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Respiratory distress, Hypertrophic cardiomyopathy |
OMIM:604377 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Sleep apnea, Severe short stature, Otitis media, Central apnea, Rhizomelia, Disproportionate shor... |
OMIM:616482 |
Endocardial Fibroelastosis |
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Restrictive cardiomyopathy, Congestive heart failure |
ORPHA:2022 |
Kaposiform Lymphangiomatosis |
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Epidural hemorrhage, Cough, Abnormal lung morphology, Pleural effusion, Subconjunctival hemorrhag... |
ORPHA:464329 |
Isolated Agammaglobulinemia |
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Failure to thrive, Sinusitis, Skin rash, Otitis media, Short stature, Arthritis, Pneumonia, Infla... |
ORPHA:229717 |
Maternally-Inherited Diabetes And Deafness |
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Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:225 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
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Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Cardiomyopathy, Dilated, 1Kk |
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Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:615248 |
Cardiomyopathy, Familial Hypertrophic, 1 |
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Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
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Respiratory distress, Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
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Dilated cardiomyopathy, Dyspnea, Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure |
ORPHA:1349 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Hirsutism, Mild postnatal growth retardation, Erysipelas, Pericardial effusion, Lymphedema, Perio... |
OMIM:235510 |
Alpha-1-Antitrypsin Deficiency |
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Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Bronchie... |
OMIM:613490 |
Ciliary Dyskinesia, Primary, 33 |
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Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... |
OMIM:616726 |
Chronic Pneumonitis Of Infancy |
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Respiratory distress, Failure to thrive, Reduced forced vital capacity, Cough, Intercostal retrac... |
ORPHA:91359 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Cardiac shunt, Failure to thrive, Anomalous pulmonary venous return, Left ventricular outflow tra... |
ORPHA:860 |
Harel-Yoon Syndrome |
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Dystonia, Corneal opacity, Developmental cataract |
OMIM:617183 |
Ciliary Dyskinesia, Primary, 2 |
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Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Erythrokeratodermia Variabilis |
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Corneal opacity, Cataract |
ORPHA:317 |
Pulmonary Alveolar Proteinosis, Acquired |
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Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ventilator... |
OMIM:610910 |
Ciliary Dyskinesia, Primary, 28 |
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Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615505 |
Bile Acid Malabsorption, Primary, 1 |
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Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Ciliary Dyskinesia, Primary, 12 |
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Chronic pulmonary obstruction, Short stature, Chronic otitis media, Chronic rhinitis, Chronic sin... |
OMIM:612650 |
Cardiomyopathy, Dilated, 1A |
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Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
3-Methylglutaconic Aciduria, Type Viib |
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Respiratory distress, Dehydration, Polyhydramnios, Rhizomelia, Recurrent pneumonia, Growth delay,... |
OMIM:616271 |
Congenital Disorder Of Glycosylation, Type Iic |
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Periodontitis, Recurrent otitis media, Short stature, Bronchiolitis, Widow's peak, Pneumonia |
OMIM:266265 |
Ciliary Dyskinesia, Primary, 3 |
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Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... |
OMIM:608644 |
Succinic Acidemia |
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Respiratory distress |
OMIM:600335 |
Short Syndrome |
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Corneal opacity, Abnormal pupil morphology, Inguinal hernia, Abnormal anterior chamber morphology... |
ORPHA:3163 |
Bronchial Neuroendocrine Tumor |
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Asthma, Tricuspid regurgitation, Nonproductive cough, Right ventricular failure, Palpitations, Br... |
ORPHA:97287 |
Muscular Dystrophy, Duchenne Type |
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Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Respiratory failure, ... |
OMIM:310200 |
Chronic Thromboembolic Pulmonary Hypertension |
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Cardiac shunt, Reduced FEV1/FVC ratio, Osteomyelitis, Abnormal T-wave, Reduced vital capacity, Ce... |
ORPHA:70591 |
Allergic Bronchopulmonary Aspergillosis |
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Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Weight loss, Pulmonary arter... |
ORPHA:1164 |
Hemochromatosis, Type 2A |
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Arrhythmia, Arthritis, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure |
OMIM:602390 |
Sarcoidosis |
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Alopecia, Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Abnormal lung morphology,... |
ORPHA:797 |
Osteogenesis Imperfecta, Type Ii |
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Disproportionate short-limb short stature, Small for gestational age, Pulmonary insufficiency, Re... |
OMIM:166210 |
Congenital Left Ventricular Aneurysm |
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Apnea, Abnormal T-wave, Abnormal ST segment, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Exfoliation Syndrome |
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Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Capillary Malformation-Arteriovenous Malformation |
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High-output congestive heart failure, Chylothorax, Nonimmune hydrops fetalis, Cerebral ischemia, ... |
ORPHA:137667 |
Alpha-Mannosidosis |
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Corneal opacity, Narrow palate, Macroglossia, Inguinal hernia, Cataract |
ORPHA:61 |
Primary Sclerosing Cholangitis |
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Pancreatitis, Palmar telangiectasia, Spider hemangioma, Hepatitis, Uveitis, Pleural effusion, Ulc... |
ORPHA:171 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
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Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Cystic pattern on pulmo... |
OMIM:610978 |
Caspase 8 Deficiency |
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Asthma, Failure to thrive, Short stature, Eczema, Pneumonia, Recurrent sinopulmonary infections |
OMIM:607271 |
Neurotrophic Keratopathy |
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Corneal scarring, Corneal ulceration, Corneal perforation, Allodynia, Corneal stromal edema, Recu... |
ORPHA:137596 |
Chronic Beryllium Disease |
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Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... |
ORPHA:133 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Pneumonia |
ORPHA:85179 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... |
OMIM:540000 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
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Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Chitayat Syndrome |
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Respiratory distress, Tracheomalacia, Short stature, Abnormal pulmonary interstitial morphology, ... |
OMIM:617180 |
Syndromic Recessive X-Linked Ichthyosis |
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Corneal opacity, Abnormal stomach morphology |
ORPHA:281090 |
Vernal Keratoconjunctivitis |
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Abnormal cornea morphology, Corneal neovascularization, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Coccidioidomycosis |
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Respiratory distress, Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Pleural empyema, Peri... |
ORPHA:228123 |
Ophthalmomandibulomelic Dysplasia |
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Corneal opacity, Megalocornea, Camptodactyly of finger |
ORPHA:2741 |
Anaplastic Thyroid Carcinoma |
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Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Weight loss... |
ORPHA:142 |
Congenital Lobar Emphysema |
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Respiratory distress, Emphysema |
ORPHA:1928 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
Chédiak-Higashi Syndrome |
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Recurrent bacterial skin infections, Periodontitis, Skin rash, Hypopigmentation of hair, Abnormal... |
ORPHA:167 |
Lymphoproliferative Syndrome 1 |
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Stomatitis, Pericardial effusion, Pleural effusion |
OMIM:613011 |
Lymphangioleiomyomatosis |
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Chylopericardium, Chylothorax, Cough, Gastrointestinal hemorrhage, Lymphedema, Restrictive ventil... |
ORPHA:538 |
Norrie Disease |
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Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... |
OMIM:310600 |
Truncus Arteriosus |
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