Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Emphysema, Chronic pulmonary obstruction |
OMIM:130700 |
Idiopathic Bronchiectasis |
|
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... |
ORPHA:60033 |
Bronchopulmonary Dysplasia |
|
Small for gestational age, Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, T... |
ORPHA:70589 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... |
ORPHA:79127 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Ast... |
ORPHA:1164 |
Tuberculosis |
|
Cough, Abnormal lung morphology, Weight loss |
ORPHA:3389 |
Pulmonary Blastoma |
|
Dyspnea, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Alpha-1-Antitrypsin Deficiency |
|
Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Panacinar emphysema, Bronchiec... |
OMIM:613490 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Chronic sinusitis, Ectopia lentis, Nasal polyposis, Bronchiolitis, Bronchie... |
OMIM:604571 |
Idiopathic Achalasia |
|
Bronchitis, Cough, Recurrent aspiration pneumonia, Wheezing, Weight loss |
ORPHA:930 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Infertility, Bronchi... |
OMIM:615872 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Uveitis, Hypoxemia, Pul... |
OMIM:612387 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Emphysema |
ORPHA:60 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Chronic sinusitis, Atelectasis, Chronic pulmonary obstruction, ... |
OMIM:253240 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Pneumothorax, Emphysema |
ORPHA:122 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... |
OMIM:615294 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Otitis media, Atelectasis |
OMIM:300455 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Atelectasis, Respiratory distress, Bronch... |
OMIM:619466 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Usual interstitial pneumonia, Hypoxemia, Respiratory failu... |
OMIM:610921 |
Hypophosphatasia |
|
Respiratory insufficiency, Failure to thrive in infancy, Emphysema |
ORPHA:436 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent oti... |
OMIM:616726 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Purulent rhini... |
OMIM:601457 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Weight loss |
ORPHA:141152 |
Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Nonproductive cough, ... |
ORPHA:60032 |
Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Respiratory d... |
ORPHA:50251 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Failure to thrive, Recurrent pneumonia, Bronchiectasis, Emphysema, Pyoderm... |
OMIM:242700 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Emphysema, Decreased DLCO, Pulmonary fibrosis |
OMIM:618913 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis, Failure to thrive |
OMIM:616740 |
Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Skin rash, Restrictive ventilatory defect, Cough, Uveitis, Arthritis, Episcleritis, Airw... |
ORPHA:36412 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... |
OMIM:267450 |
Familial Nasal Acilia |
|
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... |
ORPHA:922 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Conjunctivitis, Recurrent otitis media, Recurrent sinusitis |
OMIM:613493 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... |
ORPHA:133 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Sparse eyebrow, Emphysema, Sparse eyelashes, Eczema,... |
ORPHA:634 |
Asbestos Intoxication |
|
Dyspnea, Wheezing, Late inspiratory crackles, Atelectasis, Decreased DLCO, Restrictive ventilator... |
ORPHA:2302 |
Yao Syndrome |
|
Pleuritis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis... |
OMIM:617321 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Dyspnea, Atopic dermatitis, Atelectasis, Restrictive ventilatory defect, Hypersensitivity pneumon... |
ORPHA:2902 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... |
ORPHA:3348 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Recurrent lower respiratory tract infections, Pleural thickening, Bronchiectasis... |
OMIM:619632 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Chronic otitis media, Epicanthus, Skin rash, Cough, Arthritis, ... |
ORPHA:33110 |
Lymphoid Interstitial Pneumonia |
|
Dyspnea, Subpleural interstitial thickening, Decreased DLCO, Restrictive ventilatory defect, Coug... |
ORPHA:79128 |
X-Linked Agammaglobulinemia |
|
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Failure to thr... |
ORPHA:47 |
Granulomatosis With Polyangiitis |
|
Chronic otitis media, Pleuritis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Keratiti... |
OMIM:608710 |
Congenital Tracheomalacia |
|
Intercostal retractions, Productive cough, Pneumothorax, Pulmonary arterial hypertension, Dyspnea... |
ORPHA:95430 |
Tularemia |
|
Skin rash, Cough, Respiratory distress, Conjunctival hyperemia, Inflammatory abnormality of the e... |
ORPHA:3392 |
Nocardiosis |
|
Peritonitis, Pleuritis, Productive cough, Respiratory failure, Pneumothorax, Cutaneous abscess, D... |
ORPHA:31204 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent bronchitis, Conjunctivitis... |
OMIM:240500 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Pneumonia, Recurrent bronchitis, Con... |
OMIM:607594 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Conjunctivitis |
OMIM:612692 |
Meier-Gorlin Syndrome 4 |
|
Emphysema, Failure to thrive |
OMIM:613804 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Chronic otitis media, Restrictive ventilatory defect, Failure t... |
ORPHA:1572 |
Periodic Fever, Familial, Autosomal Dominant |
|
Pleuritis, Maculopapular exanthema, Oligoarthritis, Skin rash, Erysipelas, Myositis, Conjunctival... |
OMIM:142680 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... |
ORPHA:411703 |
Infant Acute Respiratory Distress Syndrome |
|
Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema, Pneumonia, Respiratory fail... |
ORPHA:70587 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Dyspnea, Inflammation of the large intestine, Restrictive ventil... |
OMIM:181000 |
Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Respiratory failure requiring assisted ventilation, Respirator... |
ORPHA:723 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Atelectasis, Hypoxemia, Respiratory distre... |
ORPHA:70588 |
Avian Influenza |
|
Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Respiratory distress... |
ORPHA:454836 |
Cryptogenic Organizing Pneumonia |
|
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... |
ORPHA:1302 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... |
ORPHA:79126 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Decreased DLCO, Restrictive ventilatory defect, Reduced forced expiratory volume in one second, F... |
OMIM:300770 |
Loeys-Dietz Syndrome 4 |
|
Downslanted palpebral fissures, Emphysema, Pneumothorax, Flat cornea, Eosinophilic infiltration o... |
OMIM:614816 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Downslanted palpebral fissures, Thick eyebrow, Blepharophimosis, Tel... |
ORPHA:896 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bilateral ptosis, Atelectasis, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea |
ORPHA:254361 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Reactive Arthritis |
|
Inflammation of the large intestine, Enthesitis, Pustule, Respiratory insufficiency, Recurrent ap... |
ORPHA:29207 |
Bronchogenic Cyst |
|
Dyspnea, Atelectasis, Cough, Abnormal pleura morphology, Bronchogenic cyst, Pulmonary cyst, Pneum... |
ORPHA:2357 |
Antisynthetase Syndrome |
|
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Skin rash, Respir... |
ORPHA:81 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Restrictive ventilatory defect, Cough, Pu... |
ORPHA:538 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, C... |
ORPHA:244 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Small for gestational age, Entropion, Downslanted palpebral fis... |
OMIM:616835 |
Dermatitis, Atopic |
|
Cataract, Atopic dermatitis, Conjunctivitis, Recurrent skin infections, Keratoconus, Allergic rhi... |
OMIM:603165 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic otitis media, Chronic sinusitis, Atelectasis, Nasal polyposis, Chronic rhinitis, Absent o... |
OMIM:244400 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, ... |
ORPHA:747 |
Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Bronchiectasis, Emphysema, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Neonatal respiratory distress, Wheezing, Atelectasis, Restricti... |
OMIM:610978 |
Relapsing Polychondritis |
|
Myocarditis, Cataract, Keratitis, Dyspnea, Atelectasis, Chondritis, Cough, Recurrent aphthous sto... |
ORPHA:728 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Inflammation of the large intestine, Uveitis, Colitis, Chronic ... |
OMIM:614700 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Recurrent lower respiratory tract i... |
OMIM:620233 |
Polyarteritis Nodosa |
|
Pleuritis, Abnormal lung morphology, Pericarditis, Weight loss |
ORPHA:767 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Dyspnea, Restrictive ventilatory defect, Cough, Abnormal pleura... |
ORPHA:36426 |
Lymphedema-Distichiasis Syndrome |
|
Cataract, Tubulointerstitial nephritis, Corneal erosion, Ectropion, Distichiasis, Recurrent skin ... |
ORPHA:33001 |
Diffuse Alveolar Hemorrhage |
|
Increased DLCO, Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Pulmonary venous hyper... |
ORPHA:90060 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Downslanted palpebral fissures, Emphysema, Failure to thrive |
ORPHA:357074 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Narrow palpebral fissure, Abnormal lacrimal sac morphology, Abnormal bre... |
ORPHA:141083 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... |
OMIM:610913 |
Anaplastic Thyroid Carcinoma |
|
Dyspnea, Cough, Neoplasm of the lung, Upper airway obstruction, Respiratory distress, Stridor, We... |
ORPHA:142 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Small for gestational age, Ectopia lentis, Megalocornea, Iridodone... |
ORPHA:284979 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Respiratory insufficiency, Interlobular septal thickening, Intraalveolar phospholipid ac... |
OMIM:614370 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Failure to thrive, Recurrent otitis media, Recurrent pneumonia,... |
OMIM:601495 |
Poikiloderma With Neutropenia |
|
Skin rash, Blepharitis, Sparse lateral eyebrow, Recurrent pneumonia, Sparse eyebrow, Recurrent ot... |
OMIM:604173 |
De Barsy Syndrome |
|
Cataract, Recurrent sinopulmonary infections, Epicanthus, Downslanted palpebral fissures, Failure... |
ORPHA:2962 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Recurrent respiratory infections, Dyspnea, Aspiration, Cough, Stridor |
ORPHA:2004 |
Follicular Lymphoma |
|
Pleural effusion, Weight loss |
ORPHA:545 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Cataract, Pyelonephritis, Respiratory insufficiency, Downslanted palpebral fissures, Peripheral p... |
ORPHA:90349 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Abnormality of the pulmonary artery, Emphysema, Absent eyelashes |
ORPHA:363618 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Chronic otitis media, Skin rash, Failure to thrive, Weight loss |
ORPHA:33355 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Restrictive ventilatory defect, Cough, Abnormal pleura morpholo... |
ORPHA:537 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... |
OMIM:610910 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Sinusitis, Recurrent otitis media, Infectious encephalitis, Septic arthrit... |
OMIM:307200 |
Oculopharyngodistal Myopathy |
|
Progressive ptosis, Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakn... |
ORPHA:98897 |
Sarcoidosis |
|
Maculopapular exanthema, Keratoconjunctivitis sicca, Upper airway obstruction, Pneumothorax, Abno... |
ORPHA:797 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d... |
OMIM:265120 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Bronchiolitis obliterans, Recurrent lower respiratory tract infections, Re... |
OMIM:300755 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Tracheomalacia, Atelectasis, Pulmonary hypoplasia, Peripheral pulmonary artery stenosis, Recurren... |
OMIM:613177 |
Carcinoma Of Esophagus |
|
Cough, Weight loss, Obesity |
ORPHA:70482 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Inflammation of the large intestine, Pulmonary hypoplasia, Bronchiectasis |
OMIM:619708 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Atelectasis, Productive cough,... |
OMIM:615067 |
Nephroblastoma |
|
Neoplasm of the lung, Aniridia, Weight loss |
ORPHA:654 |
Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Cough, Honeycomb lung, Pulmonary fibrosis, Bronchiectasis, A... |
ORPHA:2032 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Arthritis |
OMIM:617772 |
Kaposi Sarcoma |
|
Skin rash, Abnormal lung morphology, Weight loss |
ORPHA:33276 |
Chromomycosis |
|
Ectropion, Keratoconjunctivitis sicca, Eyelid retraction, Keratitis, Abnormal lung morphology |
ORPHA:182 |
Keutel Syndrome |
|
Chronic sinusitis, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Airway obst... |
OMIM:245150 |
Felty Syndrome |
|
Recurrent respiratory infections, Pleuritis, Chronic otitis media, Arthritis, Pulmonary fibrosis,... |
ORPHA:47612 |
Mixed Connective Tissue Disease |
|
Myocarditis, Pleuritis, Dyspnea, Pulmonary arterial hypertension, Skin rash, Keratoconjunctivitis... |
ORPHA:809 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Cough, Pancreatitis, Cardiorespiratory arrest, Pulmonary edema, Rhinorrhea, Pleural ... |
ORPHA:188 |
Meier-Gorlin Syndrome 1 |
|
Small for gestational age, Long eyelashes, Short palpebral fissure, Respiratory distress, Failure... |
OMIM:224690 |
Pfapa Syndrome |
|
Recurrent pharyngitis, Infectious encephalitis, Arthritis, Weight loss |
ORPHA:42642 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Tachypnea, Slender build, Respiratory insufficiency, Cough, Failure to... |
OMIM:613658 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Emphysema, Failure to thrive |
ORPHA:289 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Slender build, Ectopia lentis, Arthralgia/arthritis, Downslanted pal... |
ORPHA:558 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Salmonella osteomyelitis, Increased inflammatory respons... |
OMIM:209950 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Narrow palpebral fissure, Downslanted palpebral fissures, Emphysema,... |
OMIM:614437 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Peritonitis, Pleuritis, Orchitis, Skin rash, Erysipelas, Uveitis, Myositis, Arthritis, Fasciitis,... |
ORPHA:32960 |
Fabry Disease |
|
Cataract, Dyspnea, Chronic pulmonary obstruction, Respiratory insufficiency, Corneal dystrophy, A... |
ORPHA:324 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Allergic rhinitis |
ORPHA:26137 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Fibrocystic lung disease, Recurrent pneumonia, Rhinorrhea, Pneumo... |
OMIM:158310 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Synophrys, Downslanted palpebral fissures, Ectropion, Thick eyebrow, Recurrent otitis ... |
OMIM:602562 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Tachypnea, Spontaneous neonatal p... |
ORPHA:217563 |
Bronchial Neuroendocrine Tumor |
|
Dyspnea, Nonproductive cough, Pneumonia, Bronchospasm, Abnormal pulmonary interstitial morphology... |
ORPHA:97287 |
Lacrimal Duct Defect |
|
Lacrimal duct atresia, Sinusitis, Dacryocystitis, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Dyspnea, Tachypnea, Subpleural interstitial thickening, Restrictive ventilatory defec... |
ORPHA:60025 |
Plasminogen Deficiency, Type I |
|
Nephritis, Periodontitis, Conjunctivitis, Recurrent upper respiratory tract infections |
OMIM:217090 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lung morphology, Weight loss |
ORPHA:54251 |
Agel Amyloidosis |
|
Cataract, Corneal ulceration, Bilateral ptosis, Keratoconjunctivitis sicca, Respiratory tract inf... |
ORPHA:85448 |
Lymphedema-Distichiasis Syndrome |
|
Corneal ulceration, Recurrent corneal erosions, Ectropion, Distichiasis, Conjunctivitis, Chylotho... |
OMIM:153400 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Ectropion, Blepharitis, Corneal dystrophy, Sparse eyebrow, Sparse eyelashes, Conjuncti... |
OMIM:308800 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Recurrent respiratory infections, Keratoconjunctivitis sicca, Corneal dystrophy, Sclero... |
ORPHA:1806 |
Crouzon Syndrome |
|
Respiratory insufficiency, Conjunctivitis, Iris coloboma, Ptosis |
ORPHA:207 |
Polymyositis |
|
Respiratory insufficiency, Cough, Arthritis, Pulmonary fibrosis, Abnormal pulmonary interstitial ... |
ORPHA:732 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis |
OMIM:300219 |
Microsporidiosis |
|
Peritonitis, Myocarditis, Cachexia, Bronchiolitis, Endocarditis, Lymphadenitis, Sinusitis, Kerato... |
ORPHA:2552 |
Muckle-Wells Syndrome |
|
Skin rash, Restrictive ventilatory defect, Recurrent aphthous stomatitis, Uveitis, Arthritis, Epi... |
ORPHA:575 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Skin rash |
OMIM:603552 |
Shigellosis |
|
Peritonitis, Myocarditis, Corneal ulceration, Acute colitis, Failure to thrive in infancy, Uveiti... |
ORPHA:810 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Repeated pneumothoraces, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Diffuse alveolar h... |
OMIM:130050 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Keratitis, Blepharitis, Sparse eyebrow, Sparse eyelashes, Conjunctivitis, Folliculitis |
OMIM:612843 |
Autosomal Dominant Cutis Laxa |
|
Pyelonephritis, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis, Emphysema, C... |
ORPHA:90348 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Aspiration pneumonia, Weight loss |
ORPHA:216866 |
Generalized Eruptive Keratoacanthoma |
|
Ectropion, Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis |
ORPHA:411777 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Chronic otitis media, Atelectasis, Skin rash, Cough, Osteomyeli... |
ORPHA:2314 |
Wild Type Attr Amyloidosis |
|
Abnormal pulmonary interstitial morphology, Pulmonary edema, Pleural effusion, Weight loss |
ORPHA:330001 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Cough, Failure to thrive in infancy, Osteomyelitis, Recurrent upper and lower ... |
ORPHA:171876 |
Holocarboxylase Synthetase Deficiency |
|
Keratoconjunctivitis, Perioral eczema, Respiratory distress, Tachypnea, Eczema, Weight loss |
ORPHA:79242 |
Tenorio Syndrome |
|
Recurrent aphthous stomatitis, Keratoconjunctivitis sicca, Thick eyebrow, Apnea, Recurrent pneumo... |
OMIM:616260 |
Bone Dysplasia, Lethal Holmgren Type |
|
Respiratory insufficiency, Recurrent respiratory infections, Weight loss, Failure to thrive |
ORPHA:1842 |
Muckle-Wells Syndrome |
|
Recurrent aphthous stomatitis, Conjunctival hyperemia, Maculopapular exanthema, Conjunctivitis |
OMIM:191900 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Cataract, Ectopia lentis, Astigmatism, Downslanted palpebral fissure... |
OMIM:154700 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the lung, Cachexia, Weight loss |
ORPHA:83469 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Chronic otitis media, Recurrent intrapulmonary hemorrhage, Dysp... |
ORPHA:906 |
Riddle Syndrome |
|
Bronchitis, Chronic sinusitis, Conjunctival telangiectasia, Restrictive ventilatory defect, Arthr... |
ORPHA:420741 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Recurrent intrapulmonary hemorrhage, Increased inflammatory response, Endocarditis, ... |
ORPHA:183 |
Kawasaki Disease |
|
Myocarditis, Skin rash, Cheilitis, Arthritis, Hepatitis, Cholecystitis, Abnormal pulmonary inters... |
ORPHA:2331 |
Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Cough, Acute colitis, Pleural empyema, Pleural effusion, Constrictive peri... |
ORPHA:67 |
Thymoma |
|
Neoplasia of the pleura, Dyspnea, Glomerulonephritis, Cough, Neoplasm of the lung, Ulcerative col... |
ORPHA:99867 |
Farber Disease |
|
Atelectasis, Respiratory insufficiency, Arthritis, Failure to thrive, Respiratory distress, Cherr... |
ORPHA:333 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the lung, Weight loss |
ORPHA:1332 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Chronic otitis media, Respiratory failure, Weight loss |
ORPHA:3226 |
Zika Virus Disease |
|
Maculopapular exanthema, Iris coloboma, Skin rash, Arthritis, Infectious encephalitis, Lens sublu... |
ORPHA:448237 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Uveitis, Conjunctivitis, Arthritis, Skin rash |
OMIM:120100 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Epicanthus, Long eyelashes, Ai... |
ORPHA:505248 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Epicanthus, Downslanted palpebral fissures, Failure to thrive... |
ORPHA:2834 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Aspiration, Pulmonary arterial hypertension, Atelectasis, Respiratory insufficiency, Intercostal ... |
ORPHA:258 |
Whim Syndrome |
|
Atelectasis, Severe periodontitis, Lymphadenitis, Respiratory tract infection, Parotitis, Sinusit... |
ORPHA:51636 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Dyspnea, Tubulointerstitial nephritis, Skin rash, Cough, Hepatitis, Infectious encep... |
ORPHA:139402 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Conjunctival hyperemia, Epicanthus |
OMIM:619548 |
Lassa Fever |
|
Cough, Menometrorrhagia, Dyspnea, Conjunctivitis |
ORPHA:99824 |
Trichothiodystrophy |
|
Epicanthus, Congenital exfoliative erythroderma, Astigmatism, Ectropion, Keratoconjunctivitis sic... |
ORPHA:33364 |
Listeriosis |
|
Myocarditis, Peritonitis, Endocarditis, Pyelonephritis, Pustule, Respiratory distress, Infectious... |
ORPHA:533 |
Behçet Disease |
|
Cataract, Pleuritis, Optic neuritis, Orchitis, Endocarditis, Recurrent aphthous stomatitis, Pancr... |
ORPHA:117 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Cheilitis, Corneal erosion, Pustule, Blepharitis, Failure to thrive,... |
ORPHA:37 |
Erdheim-Chester Disease |
|
Dyspnea, Skin rash, Cough, Pulmonary fibrosis, Xanthelasma, Osteomyelitis, Abnormal pulmonary int... |
ORPHA:35687 |
Familial Cold Urticaria |
|
Conjunctivitis, Arthritis |
ORPHA:47045 |
Laryngeal Neuroendocrine Tumor |
|
Exertional dyspnea, Weight loss |
ORPHA:100083 |
Whipple Disease |
|
Myocarditis, Pleuritis, Respiratory insufficiency, Cough, Uveitis, Cachexia, Arthritis, Infectiou... |
ORPHA:3452 |
Kid Syndrome |
|
Acne inversa, Recurrent cutaneous abscess formation, Keratitis, Recurrent bacterial skin infectio... |
ORPHA:477 |
Acute Promyelocytic Leukemia |
|
Diffuse alveolar hemorrhage, Stomatitis, Productive cough, Metrorrhagia, Epistaxis, Exertional dy... |
ORPHA:520 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Hashimoto thyroiditis, Keratoconjunctivitis sicca, Rheumatoid arthr... |
ORPHA:227990 |
Pelizaeus-Merzbacher Disease |
|
Respiratory insufficiency, Recurrent respiratory infections, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Cystic Echinococcosis |
|
Pulmonary cyst, Membranous nephropathy, Abnormal subpleural morphology, Multiple pulmonary cysts,... |
ORPHA:400 |
Clouston Syndrome |
|
Cataract, Blepharitis, Sparse eyebrow, Sparse eyelashes, Conjunctivitis |
OMIM:129500 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Hashimoto thyroiditis, Keratoconjunctivitis sicca, Rheumatoid arthr... |
ORPHA:227982 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
Autoimmune Hypoparathyroidism |
|
Cataract, Dyspnea, Conjunctivitis, Chronic mucocutaneous candidiasis |
ORPHA:36913 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Abnormal eyelash morphology, Lipomas of eyelids, Conjunctival hyperemia, Sparse eyebrow... |
ORPHA:2399 |
Hodgkin Lymphoma |
|
Cough, Dyspnea, Weight loss |
ORPHA:98293 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Gastrointestinal inflammation, Keratitis, Inflammatory abnormality of the skin, Chemosis, Skin ra... |
ORPHA:95455 |
Intestinal Dysmotility Syndrome |
|
Cataract, Weight loss, Failure to thrive |
OMIM:620045 |
Lichen Planus Pemphigoides |
|
Blepharitis, Conjunctivitis |
ORPHA:254478 |
Malignant Atrophic Papulosis |
|
Peritonitis, Cataract, Arteritis, Respiratory failure, Pleural effusion, Ptosis, Weight loss |
ORPHA:679 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Lacrimal duct atresia, Blepharitis, Absent eyelashes, Ankyloblepharon, Sparse eyelashes, Conjunct... |
OMIM:106260 |
Dyskeratosis Congenita, X-Linked |
|
Cataract, Restrictive ventilatory defect, Blepharitis, Pulmonary fibrosis, Pterygium, Sparse eyel... |
OMIM:305000 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Cataract, Recurrent respiratory infections, Keratitis, Aspiration pneumonia, Dyspnea, Cough, Fail... |
ORPHA:1018 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Epicanthus, Failure to thrive in infancy, Downslanted palpebral fissures, Sparse eyebrow, Unilate... |
ORPHA:500150 |
Granulomatous Disease, Chronic, X-Linked |
|
Eczematoid dermatitis, Atelectasis, Cough, Recurrent bacterial skin infections, Lymphadenitis, Re... |
OMIM:306400 |
Cockayne Syndrome Type 2 |
|
Developmental cataract, Male hypogonadism, Uveitis, Conjunctivitis |
ORPHA:90322 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Glomerulonephritis, Recurrent aphthous stomatitis, Severe periodontitis, Lymphocytic... |
ORPHA:2968 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis, Erythroderma, Failure to thrive |
OMIM:242150 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Keratitis, Abnormal eyelash morphology, Abnormal nasolacrimal s... |
ORPHA:2273 |
Juvenile Dermatomyositis |
|
Dyspnea, Skin rash, Restrictive ventilatory defect, Cough, Arthritis, Pulmonary fibrosis, Palpebr... |
ORPHA:93672 |
Q Fever |
|
Myocarditis, Maculopapular exanthema, Endocarditis, Cough, Respiratory distress, Hepatitis, Infec... |
ORPHA:781 |
Giant Cell Arteritis |
|
Cough, Abnormal pleura morphology, Arthritis, Recurrent pharyngitis, Epistaxis, Pericarditis, Pto... |
ORPHA:397 |
Lambert-Eaton Myasthenic Syndrome |
|
Abnormality of the orbital region, Small cell lung carcinoma, Keratoconjunctivitis sicca, Impotence |
ORPHA:43393 |
Hermansky-Pudlak Syndrome |
|
Cataract, Dyspnea, Long eyelashes, Iris hypopigmentation, Astigmatism, Pulmonary fibrosis, Menome... |
ORPHA:79430 |
Solitary Fibrous Tumor |
|
Neoplasia of the pleura, Neoplasm of the lung, Weight loss |
ORPHA:2126 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Skin rash, Myositis, Arthritis, Failure to thrive, Sinusitis, Conjunctivitis, Panniculitis |
OMIM:617591 |
Crouzon Syndrome |
|
Sleep apnea, Keratitis, Conjunctivitis, Shallow orbits |
OMIM:123500 |
Arboleda-Tham Syndrome |
|
Neonatal respiratory distress, Recurrent respiratory infections, Epicanthus, Chronic otitis media... |
OMIM:616268 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma |
OMIM:148200 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Respiratory insufficiency, Pulmonary fibrosis, Fai... |
OMIM:618278 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Dyspnea, Nonproductive cough, Obstructive sleep apnea, Pulmonary ... |
ORPHA:85443 |
Acute Myelomonocytic Leukemia |
|
Dyspnea, Weight loss |
ORPHA:517 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Entropion, Ectropion, Keratoconjunctivitis sicca, Conjunctivitis, Corneal ne... |
OMIM:278730 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Hypogonadism, Respiratory insufficiency, Cachexia, Sleep apnea, Ptosis |
ORPHA:97229 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Dyspnea, Neoplasm of the lung, Bronchospasm, Ptosis, Weight loss |
ORPHA:100085 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Chronic Graft Versus Host Disease |
|
Dyspnea, Urinary bladder inflammation, Bronchiolitis obliterans, Cough, Recurrent corneal erosion... |
ORPHA:99921 |
19Q13.11 Microdeletion Syndrome |
|
Cataract, Recurrent respiratory infections, Cachexia, Failure to thrive, Sparse lateral eyebrow, ... |
ORPHA:217346 |
Zygomycosis |
|
Peritonitis, Myocarditis, Atelectasis, Colitis, Gastritis, Pneumothorax, Epistaxis, Endocarditis,... |
ORPHA:73263 |
Primary Sjögren Syndrome |
|
Bronchitis, Corneal perforation, Glomerulonephritis, Optic neuritis, Chronic active hepatitis, Ch... |
ORPHA:289390 |
Biotinidase Deficiency |
|
Skin rash, Apnea, Seborrheic dermatitis, Recurrent skin infections, Tachypnea, Conjunctivitis |
OMIM:253260 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respira... |
ORPHA:365 |
Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Pleuritis, Recurrent intrapulmonary hemorrhage, Chronic otitis ... |
ORPHA:900 |
Galactose Epimerase Deficiency |
|
Cataract, Weight loss |
ORPHA:79238 |
Biotinidase Deficiency |
|
Eczematoid dermatitis, Hyperventilation, Skin rash, Apnea, Respiratory distress, Conjunctivitis |
ORPHA:79241 |
Goodpasture Syndrome |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Increased DLCO, Reticular pattern on pulm... |
OMIM:233450 |
Malt Lymphoma |
|
Recurrent respiratory infections, Posterior uveitis, Abnormal nasolacrimal system morphology, Wei... |
ORPHA:52417 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Conjunctivitis, Lacrimal duct atresia, Absent lacrimal punctum, Lacrimal duct aplasia |
OMIM:620192 |
Esophageal Atresia |
|
Bronchitis, Small for gestational age, Recurrent respiratory infections, Aspiration, Chronic pulm... |
ORPHA:1199 |
Viss Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Atopic dermatitis, Ectropion, Failure to thrive, Chroni... |
OMIM:619472 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Hypogonadism, Restrictive ventilatory defect, Respiratory insuff... |
ORPHA:2905 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Thymic Carcinoma |
|
Cough, Palpebral edema, Dyspnea, Weight loss |
ORPHA:99868 |
Cockayne Syndrome Type 1 |
|
Cataract, Uveitis, Failure to thrive, Male hypogonadism, Conjunctivitis |
ORPHA:90321 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Maculopapular exanthema, Atelectasis, Skin rash, Fulminant hepatitis, Respiratory di... |
ORPHA:319213 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Ectropion, Conjunctivitis, Keratitis |
OMIM:278750 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Failure to thrive, Thyroiditis, Corneal ... |
OMIM:617388 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Brucellosis |
|
Myocarditis, Sacroiliac arthritis, Pulmonary granulomatosis, Small for gestational age, Endocardi... |
ORPHA:1304 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Ectropion, Conjunctivitis, Keratitis |
OMIM:278740 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Punctate opacification of the cornea, Episcleritis, Failure to thrive, Parotitis, Recurrent otiti... |
OMIM:256040 |
Transketolase Deficiency |
|
Cataract, Uveitis, Seborrheic dermatitis, Secondary amenorrhea, Conjunctivitis |
ORPHA:488618 |
Simple Cryoglobulinemia |
|
Arthritis, Membranoproliferative glomerulonephritis, Abnormal lung morphology, Nephritis, Pericar... |
ORPHA:91139 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Inflammation of the large intestine, Weight loss |
ORPHA:26790 |
Infant Botulism |
|
Chronic otitis media, Mydriasis, Dyspnea, Respiratory insufficiency due to muscle weakness, Kerat... |
ORPHA:178478 |
Atopic Keratoconjunctivitis |
|
Chemosis, Keratoconjunctivitis sicca, Loss of eyelashes, Blepharitis, Corneal opacity, Abnormal e... |
ORPHA:163934 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Arthritis, Inflammatory abnormality of the eye, Abnormal pattern... |
ORPHA:3287 |
Chand Syndrome |
|
Ankyloblepharon, Atelectasis |
ORPHA:1401 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis |
ORPHA:139436 |
8P23.1 Microdeletion Syndrome |
|
Epicanthus, Obesity, Downslanted palpebral fissures, Upslanted palpebral fissure, Pulmonary arter... |
ORPHA:251071 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Upper eyelid coloboma, Lipomas of eyelids, Absent lacrimal punctum, Conjunctival hyperemia, Spars... |
OMIM:167730 |
Erythrokeratodermia Variabilis |
|
Cataract, Skin rash, Corneal opacity, Weight loss |
ORPHA:317 |
Alveolar Echinococcosis |
|
Cholangitis, Dyspnea, Cough, Pulmonary cyst, Cutaneous abscess, Weight loss |
ORPHA:284 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Respiratory insufficiency, Cachexia |
ORPHA:157973 |
Ifap Syndrome 2 |
|
Cataract, Keratoconjunctivitis sicca, Posterior blepharitis, Angular cheilitis, Keratitis |
OMIM:619016 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Perry Syndrome |
|
Central hypoventilation, Weight loss |
ORPHA:178509 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Ectropion, Conjunctivitis, Keratitis |
OMIM:278720 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Morbilliform rash, Pulmonary arterial hypertension, Erythema nodosum, Orchitis, Diff... |
ORPHA:99827 |
Pseudohypoparathyroidism Type 1C |
|
Cataract, Oligomenorrhea, Dyspnea, Hypergonadotropic hypogonadism, Conjunctivitis, Obesity |
ORPHA:79444 |
Hypohidrotic Ectodermal Dysplasia |
|
Cough, Keratoconjunctivitis sicca, Failure to thrive, Sinusitis, Inflammatory abnormality of the ... |
ORPHA:238468 |
Reynolds Syndrome |
|
Skin rash, Respiratory insufficiency, Keratoconjunctivitis sicca, Arthritis, Infectious encephalitis |
ORPHA:779 |
Dermatomyositis |
|
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Respiratory insuf... |
ORPHA:221 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cataract, Keratoconjunctivitis, Premature ovarian insufficiency, Chronic active hepatitis, Chroni... |
OMIM:240300 |
Moynahan Syndrome |
|
Cachexia, Hypogonadism |
ORPHA:2574 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Small for gestational age, Hypogonadism, Keratoconjunctivitis sicca, Microcornea, Asthm... |
OMIM:601675 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Aspiration pneumonia, Abnormal retinal vascular morphology, Fai... |
ORPHA:354 |
Classic Hodgkin Lymphoma |
|
Respiratory insufficiency, Skin rash, Cough, Weight loss |
ORPHA:391 |
Paroxysmal Hemicrania |
|
Conjunctival hyperemia, Palpebral edema, Rhinorrhea, Rhinitis, Ptosis |
ORPHA:157835 |
Immunodeficiency 31C |
|
Recurrent respiratory infections, Cough, Chronic mucocutaneous candidiasis, Chronic oral candidia... |
OMIM:614162 |
Isolated Congenital Alacrima |
|
Lacrimal gland hypoplasia, Corneal erosion, Distichiasis, Conjunctivitis, Lacrimal punctal atresi... |
ORPHA:91416 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Ectropion, Conjunctivitis, Keratitis |
OMIM:278700 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Lacrimal duct stenosis, Periorbital dermoid cyst, Conjunctivitis |
OMIM:615560 |
Mcdonough Syndrome |
|
Synophrys, Cachexia, Ptosis, Short palpebral fissure |
ORPHA:2471 |
Pseudohypoparathyroidism Type 1A |
|
Cataract, Oligomenorrhea, Dyspnea, Band keratopathy, Hypergonadotropic hypogonadism, Conjunctivit... |
ORPHA:79443 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Keratoconjunctivitis sicca, Decreased fertility, Sparse eyelashes, Microcornea |
OMIM:234050 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Pustule, Cough, Cachexia, Failure to thrive, Acne, Osteomye... |
ORPHA:77297 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Recurrent corneal erosions, Corneal scarring, Keratoconjunctivit... |
ORPHA:293381 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Dyspareunia, Metrorrhagia, Menorrhagia, Weight loss |
ORPHA:168816 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Hypergonadotropic hypogonadism, Abnormality of the extraocular muscles, Hypogonadotropi... |
ORPHA:298 |
Primary Intestinal Lymphangiectasia |
|
Pleural effusion, Weight loss |
ORPHA:90362 |
Perry Syndrome |
|
Respiratory insufficiency, Hypoventilation, Central hypoventilation, Weight loss, Respiratory arrest |
OMIM:168605 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Corneal scarring, Conjunctivitis |
OMIM:226600 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Pseudohypoparathyroidism Type 1B |
|
Cataract, Dyspnea, Conjunctivitis |
ORPHA:94089 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Colitis, Arthri... |
OMIM:301074 |
Cogan Syndrome |
|
Keratitis, Scleritis, Uveitis, Episcleritis, Inflammatory abnormality of the eye, Conjunctivitis |
ORPHA:1467 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Recurrent aphthous stomatitis, Ulcerative colitis, Crohn's d... |
OMIM:266600 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Pulmonary hypoplasia, Epicanthus, Atelectasis |
OMIM:269860 |
Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
Adrenocortical Carcinoma |
|
Abnormality of reproductive system physiology, Lung adenocarcinoma, Weight loss, Increased body w... |
ORPHA:1501 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Corneal ulceration, Recurrent bacterial skin infections, Recurrent corneal erosions, Keratoconjun... |
OMIM:148210 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Eczematoid dermatitis, Inflammatory abnormality of the skin, Tu... |
ORPHA:37042 |
Diencephalic Syndrome |
|
Decreased body weight, Cachexia |
ORPHA:1672 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Dyspnea, Weight loss |
ORPHA:168811 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Aspiration pneumonia, Weakness of muscles of respi... |
ORPHA:2020 |
Rhabdoid Tumor |
|
Respiratory insufficiency, Weight loss |
ORPHA:69077 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Conjunctival hamartoma, Weight loss |
ORPHA:312 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Repeated pneumothoraces, Tracheomalacia, Atelectasis, Restrictive ventilatory defect, Respiratory... |
ORPHA:536467 |
Renpenning Syndrome |
|
Cataract, Epicanthus, Iris coloboma, Cachexia, Upslanted palpebral fissure, Thin eyebrow |
ORPHA:3242 |
Sunct Syndrome |
|
Conjunctival hyperemia, Palpebral edema, Rhinorrhea, Ptosis |
ORPHA:57145 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Epicanthus, Respiratory insufficiency, Cachexia, Respiratory failure, Ptosis |
OMIM:618186 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Epicanthus, Failure to thrive in infancy, Downslanted palpebral fissures, Cachexia, Ptosis |
OMIM:616801 |
De Sanctis-Cacchione Syndrome |
|
Entropion, Ectropion, Conjunctivitis, Keratitis |
OMIM:278800 |
Trichinellosis |
|
Central retinal artery occlusion, Skin rash, Conjunctival hyperemia, Anisocoria, Conjunctivitis |
ORPHA:863 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Amoebiasis Due To Free-Living Amoebae |
|
Corneal perforation, Corneal ulceration, Respiratory tract infection, Conjunctival hyperemia, Sin... |
ORPHA:68 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Epicanthus, Restrictive ventilatory defect, Shallow orbits, Obs... |
ORPHA:576 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Wilson Disease |
|
Acute hepatitis, Arthritis, Failure to thrive, Hepatitis, Abnormality of the menstrual cycle, Inc... |
ORPHA:905 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Rheumatoid arthritis |
OMIM:270150 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Gastrointestinal inflammation, Glomerulonephritis,... |
ORPHA:48435 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Aspiration, Central sleep apnea, Synophrys, Short palpebral fis... |
OMIM:619777 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Abnormal eyelid morphology, Weight loss |
ORPHA:2221 |
Tetrasomy 12P |
|
Cachexia, Upslanted palpebral fissure, Sparse eyebrow, Telecanthus, Ptosis |
ORPHA:884 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca |
OMIM:133020 |
Adult Syndrome |
|
Eczema, Conjunctivitis, Nasolacrimal duct obstruction |
OMIM:103285 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Huntington Disease |
|
Abnormal libido, Decreased body mass index, Weight loss |
ORPHA:399 |
Progeroid Short Stature With Pigmented Nevi |
|
Cataract, Small for gestational age, Premature ovarian insufficiency, Allergic conjunctivitis, Al... |
OMIM:176690 |
Sotos Syndrome |
|
Cataract, Chronic otitis media, Small cell lung carcinoma, Astigmatism, Downslanted palpebral fis... |
ORPHA:821 |
Limb-Mammary Syndrome |
|
Primary amenorrhea, Lacrimal duct atresia, Absent lacrimal punctum, Blepharitis, Sparse eyebrow, ... |
ORPHA:69085 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Osteoarthritis, Abnormality of body weight, Pneumonia, Increased body weight, Nephriti... |
ORPHA:2298 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Viral hepatitis, Arthritis |
ORPHA:91138 |
Igg4-Related Kidney Disease |
|
Pleuritis, Chronic sinusitis, Inflammatory abnormality of the skin, Pericarditis, Tubulointerstit... |
ORPHA:449395 |
Adnp Syndrome |
|
Aspiration, Slanting of the palpebral fissure, Iris coloboma, Bilateral ptosis, Astigmatism, Trun... |
ORPHA:404448 |
Loeffler Endocarditis |
|
Cough, Dyspnea, Pericarditis, Weight loss |
ORPHA:75566 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Christianson Syndrome |
|
Cachexia, Thick eyebrow |
ORPHA:85278 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Inflammatory abnormality of the skin, Failure to thrive, Sparse eyebrow, Sparse eyela... |
OMIM:610768 |
22Q11.2 Deletion Syndrome |
|
Cataract, Chronic otitis media, Telecanthus, Epicanthus, Chronic pulmonary obstruction, Atelectas... |
ORPHA:567 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Malar rash, Skin rash, Palpebral edema, Abnormal pulmonary interstitial morphology, ... |
ORPHA:50918 |
Central Diabetes Insipidus |
|
Weight loss, Failure to thrive |
ORPHA:178029 |
Multiple Myeloma |
|
Pleural effusion, Weight loss |
ORPHA:29073 |
Limbal Stem Cell Deficiency |
|
Corneal perforation, Blepharospasm, Opacification of the corneal epithelium, Corneal scarring, Co... |
ORPHA:171673 |
Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
Eosinophilic Fasciitis |
|
Fasciitis, Myositis, Arthritis, Weight loss |
ORPHA:3165 |
Oromandibular Dystonia |
|
Respiratory distress, Blepharospasm, Weight loss |
ORPHA:93958 |
Immunodeficiency 82 With Systemic Inflammation |
|
Bronchitis, Skin rash, Colitis, Arthritis, Gastritis, Hepatitis, Recurrent otitis media, Pustular... |
OMIM:619381 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Eosinophilic Gastroenteritis |
|
Asthma, Allergic rhinitis, Atopic dermatitis, Weight loss |
ORPHA:2070 |
Leptospirosis |
|
Optic neuritis, Pleural effusion, Skin rash, Cough, Uveitis, Respiratory distress, Hepatitis, Con... |
ORPHA:509 |
Pili Torti-Onychodysplasia Syndrome |
|
Conjunctival hyperemia, Absent eyebrow, Eczema, Absent eyelashes |
ORPHA:2890 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Cheilitis, Ectropion, Colitis, Esophagitis, Recurrent skin i... |
ORPHA:2908 |
Leishmaniasis |
|
Rhinitis, Weight loss |
ORPHA:507 |
Oculopharyngodistal Myopathy 1 |
|
Aspiration, Hypercapnia, Bilateral ptosis, Restrictive ventilatory defect, Respiratory insufficie... |
OMIM:164310 |
Acute Adrenal Insufficiency |
|
Recurrent acute respiratory tract infection, Decreased female libido, Weight loss, Failure to thrive |
ORPHA:95409 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Cachexia, Upslanted palpebr... |
ORPHA:647 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Cataract, Keratoconjunctivitis sicca, Thick eyebrow, Ptosis |
OMIM:616007 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Obstructive sleep apnea, Downslanted palpebral fissures, Cachexia, Severe failure to thrive |
ORPHA:371364 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Failure to thrive |
OMIM:143880 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Skin rash, Recurrent lower respiratory tract infections, Arthritis, Chilblains... |
OMIM:615846 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Downslanted palpebral fissures, Keratoconjunctivitis sicca, Ectopia lentis |
OMIM:616914 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Skin rash, Blepharitis, Failure to thrive, Recurrent pneumon... |
OMIM:617718 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Weight loss |
ORPHA:94080 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
African Trypanosomiasis |
|
Myocarditis, Keratitis, Optic neuritis, Iritis, Infertility, Abnormality of the menstrual cycle, ... |
ORPHA:3385 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration, Ptosis, Failure to thrive |
OMIM:614688 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Skin rash, Arthritis, Acne, Osteomyelitis, Psoriasiform derm... |
ORPHA:324964 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Arthritis, Infertility, Erectile dysfunction, Hypogonadotropic hypogonadism, ... |
ORPHA:465508 |
Abetalipoproteinemia |
|
Corneal ulceration, Keratoconjunctivitis sicca, Failure to thrive, Respiratory failure, Ptosis |
ORPHA:14 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Corneal scarring, Conjunctivitis, Loss of eyelashes |
OMIM:263700 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Synophrys, Recurrent respiratory infections, Hair-pulling |
ORPHA:447997 |
Igg4-Related Aortitis |
|
Asthma, Increased inflammatory response, Weight loss |
ORPHA:449400 |
Ogden Syndrome |
|
Aspiration, Pulmonary arterial hypertension, Epicanthus, Long eyelashes, Bilateral ptosis, Restri... |
OMIM:300855 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Aspiration |
OMIM:272800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Recurrent respiratory infections, Chronic otitis media, Atelectasis, Respiratory insuff... |
ORPHA:534 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pulmonary arterial hypertension, Bacterial endocarditis, Cachexia, Pulmonary fibrosis, Azoospermi... |
ORPHA:2072 |
Bullous Pemphigoid |
|
Eczema, Psoriasiform dermatitis, Weight loss |
ORPHA:703 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Abnormal lacrimal duct morphology, Keratoconjunctivitis sicca, Abno... |
ORPHA:79078 |
Digeorge Syndrome |
|
Chronic pulmonary obstruction, Atelectasis, Obesity, Short palpebral fissure, Acne, Seborrheic de... |
OMIM:188400 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Exertional dyspnea |
ORPHA:42 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes |
OMIM:258360 |
Short Syndrome |
|
Megalocornea, Abnormal pupil morphology, Hypoplasia of the iris, Corneal opacity, Posterior embry... |
ORPHA:3163 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Arthritis, Punctate keratitis, Failure to thrive, Weight loss |
ORPHA:92050 |
Developmental And Epileptic Encephalopathy 38 |
|
Aspiration, Attenuation of retinal blood vessels |
OMIM:617020 |
Benign Recurrent Intrahepatic Cholestasis |
|
Pancreatitis, Weight loss |
ORPHA:65682 |
Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Cachexia |
ORPHA:93941 |
Thymic Neuroendocrine Tumor |
|
Cough, Abnormal breath sound, Weight loss |
ORPHA:97289 |
Ring Chromosome 10 Syndrome |
|
Downslanted palpebral fissures, Cachexia |
ORPHA:1438 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Aspiration, Abnormality of the extraocular muscles, Respiratory insufficiency due to muscle weakness |
ORPHA:600 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ptosis |
ORPHA:1933 |
Primary Fanconi Renotubular Syndrome |
|
Pulmonary fibrosis, Weight loss |
ORPHA:3337 |
Plague |
|
Mydriasis, Inflammation of the large intestine, Endocarditis, Skin rash, Lymphadenitis, Arthritis... |
ORPHA:707 |
Grfoma |
|
Neoplasm of the lung, Weight loss |
ORPHA:97261 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Flynn-Aird Syndrome |
|
Cataract, Cachexia |
ORPHA:2047 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Keratoconjunctivitis, Cataract, Chronic hepatitis, Band keratopathy, Hepatitis, Chronic mucocutan... |
OMIM:269200 |
Halperin-Birk Syndrome |
|
Developmental cataract, Aspiration, Long eyelashes, Failure to thrive |
OMIM:618651 |
Cronkhite-Canada Syndrome |
|
Cataract, Aplasia/Hypoplasia of the eyebrow, Cachexia |
ORPHA:2930 |
Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis, Lacrimal gland aplasia, Corneal ulceration, Abnormal lacrimal gland morphol... |
ORPHA:2363 |
Fatal Familial Insomnia |
|
Apnea, Weight loss |
OMIM:600072 |
Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Astigmatism, Keratoconjunctivitis sicca, Periodontitis, Bilateral ptosis |
ORPHA:536532 |
Primary Sclerosing Cholangitis |
|
Pancreatitis, Uveitis, Ulcerative colitis, Hepatitis, Thyroiditis, Pleural effusion, Weight loss |
ORPHA:171 |
Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Recurrent aphthous stomatitis, Failure to thrive, Infertility, Thyroiditis, Eczema, W... |
OMIM:212750 |
Rett Syndrome |
|
Intermittent hyperventilation, Cachexia, Apnea |
OMIM:312750 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Cachexia |
ORPHA:2774 |
Acute Monoblastic/Monocytic Leukemia |
|
Exertional dyspnea, Weight loss |
ORPHA:514 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Neonatal respiratory distress, Aspiration, Failure to thrive |
OMIM:618922 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Weight loss |
ORPHA:309031 |
Hereditary Acrokeratotic Poikiloderma |
|
Keratoconjunctivitis, Ectropion, Opacification of the corneal stroma, Eczema, Pustule |
ORPHA:2907 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Infantile Krabbe Disease |
|
Cachexia, Failure to thrive, Respiratory distress, Cherry red spot of the macula, Respiratory fai... |
ORPHA:206436 |
X-Linked Intellectual Disability, Cabezas Type |
|
Epicanthus, Hypogonadism, Synophrys, Downslanted palpebral fissures, Cachexia, Blepharophimosis, ... |
ORPHA:85293 |
Aredyld Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Cachexia, Upslanted palpebral fissure |
ORPHA:1133 |
Rat-Bite Fever |
|
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Skin rash,... |
ORPHA:31205 |
Hepatoerythropoietic Porphyria |
|
Keratoconjunctivitis, Seborrhoeic blepharitis, Corneal ulceration, Recurrent bacterial skin infec... |
ORPHA:95159 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Lacrimal gland aplasia, Corneal perforation, Lacrimal gland hypoplasia, Recurrent corneal erosion... |
OMIM:149730 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Spinocerebellar Ataxia Type 8 |
|
Aspiration, Impotence |
ORPHA:98760 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Epicanthus |
OMIM:618733 |
Cockayne Syndrome |
|
Cataract, Malar rash, Corneal ulceration, Lentiglobus, Keratoconjunctivitis sicca, Cachexia, Band... |
ORPHA:191 |
Alternating Hemiplegia Of Childhood |
|
Aspiration, Mydriasis, Apnea, Respiratory distress, Failure to thrive, Thin eyebrow |
ORPHA:2131 |
Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Inflammatory abnormality of the eye, Weight loss |
ORPHA:33577 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Weight loss, Failure to thrive |
ORPHA:95427 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Aspiration, Corneal scarring, Apnea, Stridor |
OMIM:614653 |
Beta-Ketothiolase Deficiency |
|
Cough, Tachypnea, Weight loss |
ORPHA:134 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Aspiration, Small for gestational age, Esophagitis, Failure to thrive, Obstructive sleep apnea |
ORPHA:96182 |
Neuroblastoma, Susceptibility To, 1 |
|
Horner syndrome, Weight loss, Failure to thrive |
OMIM:256700 |
Neuroendocrine Tumor Of The Colon |
|
Bronchospasm, Weight loss |
ORPHA:100080 |
Amyotrophic Lateral Sclerosis 21 |
|
Aspiration, Respiratory insufficiency due to muscle weakness |
OMIM:606070 |
Aggressive Systemic Mastocytosis |
|
Maculopapular exanthema, Weight loss |
ORPHA:98850 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Conjunctival hyperemia, Highly arched eyebrow |
OMIM:619121 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Polycythemia Vera |
|
Respiratory insufficiency, Epistaxis, Pulmonary embolism, Weight loss |
ORPHA:729 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Enthesitis, Uveitis, Arthritis, Iridocyclitis, Synovitis, Hi... |
ORPHA:85408 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Chilblains, Acute pancreatitis, Pericarditis, Weight loss |
OMIM:619487 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Cataract, Recurrent respiratory infections, Aspiration, Corneal scarring, Downslanted palpebral f... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Cataract, Recurrent respiratory infections, Aspiration, Corneal scarring, Downslanted palpebral f... |
ORPHA:353277 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Tubulointerstitial nephritis, Male infertility, Oligospermia, Weight loss |
ORPHA:85450 |
Tsh-Secreting Pituitary Adenoma |
|
Decreased fertility in females, Hypogonadism, Decreased female libido, Irregular menstruation, In... |
ORPHA:91347 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Congenital Erythropoietic Porphyria |
|
Keratoconjunctivitis, Seborrhoeic blepharitis, Corneal ulceration, Recurrent bacterial skin infec... |
ORPHA:79277 |
Stickler Syndrome |
|
Cataract, Recurrent respiratory infections, Chronic otitis media, Epicanthus, Slender build, Ecto... |
ORPHA:828 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Tachypnea, Apnea, Weight loss |
ORPHA:20 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Ménétrier Disease |
|
Giant hypertrophic gastritis, Weight loss |
ORPHA:2494 |
Neuroendocrine Tumor Of The Rectum |
|
Bronchospasm, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Bronchospasm, Weight loss |
ORPHA:100082 |
Cockayne Syndrome Type 3 |
|
Cataract, Corneal ulceration, Lentiglobus, Keratoconjunctivitis sicca, Microcornea |
ORPHA:90324 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Synophrys, Keratoconjunctivitis sicca, Laterally extended eyebrow, Long eyelashes |
OMIM:618479 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Respiratory insufficiency, Cataract, Ptosis, Weight loss |
OMIM:607459 |
Osteootohepatoenteric Syndrome |
|
Asthma, Weight loss, Failure to thrive |
OMIM:619377 |
Peripheral Primitive Neuroectodermal Tumor |
|
Pancreatitis, Metrorrhagia, Weight loss |
ORPHA:370348 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Long eyelashes, Synophrys, Keratoconjunctivitis sicca, Corneal dystrophy, Broad eyebrow, Sparse e... |
ORPHA:495875 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Ptosis |
ORPHA:1876 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Corneal scarring, Cachexia, Failure to thrive, Attenuation of re... |
OMIM:610965 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Keratoconjunctivitis sicca, Osteoarthritis, Apnea, Decreased fertility, Keratoconus, ... |
ORPHA:285 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Weight loss |
ORPHA:398063 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Late-Onset Isolated Acth Deficiency |
|
Premature ovarian insufficiency, Hashimoto thyroiditis, Failure to thrive, Hepatitis, Weight loss |
ORPHA:199299 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia, Ptosis |
ORPHA:52503 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
Schwartz-Jampel Syndrome |
|
Cataract, Pulmonary arterial hypertension, Ectopia lentis, Abnormal eyebrow morphology, Respirato... |
ORPHA:800 |
Opitz Gbbb Syndrome |
|
Aspiration, Telecanthus |
OMIM:300000 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Panuveitis, Abnormal pupil morphology, Posterior uveitis, Abnormal corneal end... |
ORPHA:209959 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Hashimoto thyroiditis, Membranous nephropathy, ... |
ORPHA:49041 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Weight loss, Failure to thrive |
ORPHA:35858 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Weight loss |
ORPHA:276621 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Conjunctival hyperemia, Blepharospasm |
ORPHA:240071 |
Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
Budd-Chiari Syndrome |
|
Peritonitis, Cholecystitis, Weight loss |
ORPHA:131 |
Familial Glucocorticoid Deficiency |
|
Azoospermia, Weight loss, Failure to thrive |
ORPHA:361 |
Idiopathic Panuveitis |
|
Cataract, Red eye, Conjunctival hyperemia, Posterior synechiae of the anterior chamber |
ORPHA:280921 |
Proteus Syndrome |
|
Cataract, Central heterochromia, Downslanted palpebral fissures, Pulmonary embolism, Neoplasm of ... |
ORPHA:744 |
Castleman Disease |
|
Cough, Dyspnea, Weight loss |
ORPHA:160 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Retinal capillary hemangioma, Aniridia, Weight loss |
ORPHA:29072 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Infertility, Dysmenorrhea, Weight loss |
ORPHA:71273 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Ptosis, Weight loss |
OMIM:603041 |
Fanconi Anemia |
|
Cataract, Epicanthus, Hypogonadism, Astigmatism, Upslanted palpebral fissure, Short palpebral fis... |
ORPHA:84 |
Silver-Russell Syndrome |
|