Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Plantar telangiectasia, Palmar telangiectasia |
OMIM:175850 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity |
OMIM:216950 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... |
ORPHA:70578 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Increased circulatin... |
ORPHA:542323 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure |
ORPHA:60 |
Osteochondrosis Of The Tarsal Bone |
|
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... |
ORPHA:563991 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... |
ORPHA:85435 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk... |
OMIM:300635 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi... |
ORPHA:2619 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Sup... |
ORPHA:75249 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Pedal edema, Hypotension,... |
ORPHA:188 |
Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic... |
ORPHA:57777 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... |
ORPHA:70587 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis, Decreased circulating total IgM,... |
OMIM:300310 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Sud... |
OMIM:115197 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Familial Multiple Trichoepithelioma |
|
Telangiectasia of the skin |
ORPHA:867 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... |
ORPHA:564003 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating lactate de... |
ORPHA:158061 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Mediastinal lymphadenopathy, ... |
ORPHA:199241 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... |
ORPHA:2137 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... |
OMIM:601492 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
Rombo Syndrome |
|
Facial telangiectasia |
OMIM:180730 |
Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia |
OMIM:601457 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Uv-Sensitive Syndrome 3 |
|
Telangiectasia |
OMIM:614640 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
Peripheral Dysostosis |
|
Osteoarthritis, Joint stiffness |
ORPHA:1795 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... |
ORPHA:829 |
Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, ST se... |
OMIM:261740 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... |
ORPHA:411593 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... |
ORPHA:231 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythro... |
ORPHA:169160 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... |
ORPHA:139402 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... |
OMIM:308230 |
Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Limited hip movement |
ORPHA:86820 |
Multicentric Reticulohistiocytosis |
|
Arthritis |
ORPHA:139436 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash |
OMIM:609939 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
Legionnaires Disease |
|
Renal insufficiency, Pericarditis, Proteinuria, Abnormal pleura morphology, Splenomegaly, Jaundic... |
ORPHA:549 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis |
ORPHA:2206 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Arthritis, Anti-dsDNA antibody positivity... |
ORPHA:567544 |
Melioidosis |
|
Shock, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, A... |
ORPHA:31202 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, In... |
ORPHA:340 |
High Altitude Pulmonary Edema |
|
Leukocytosis, Tachycardia, Pulmonary edema |
ORPHA:330012 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... |
ORPHA:47 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, T... |
ORPHA:292 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent oti... |
OMIM:615207 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl... |
OMIM:620321 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling |
ORPHA:1525 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... |
OMIM:600969 |
Mogs-Cdg |
|
Hepatomegaly, Pulmonary edema, Edema, Polyhydramnios, Decreased circulating IgA level, Hepatosple... |
ORPHA:79330 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... |
ORPHA:64739 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... |
ORPHA:93308 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
Beukes Hip Dysplasia |
|
Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Lymphad... |
ORPHA:381 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,... |
OMIM:604416 |
Q Fever |
|
Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious encephali... |
ORPHA:781 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Spl... |
ORPHA:91138 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Limitation of joint mobility |
ORPHA:2582 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... |
ORPHA:79303 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia |
OMIM:215520 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Gastritis, C... |
ORPHA:31826 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, Arthritis, Increas... |
ORPHA:397596 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Tubulointerstitial nephritis, Colitis, Hypovolemia,... |
ORPHA:90068 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis |
ORPHA:363523 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B ce... |
ORPHA:3261 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, J... |
ORPHA:137675 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Incre... |
ORPHA:1163 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple... |
OMIM:612387 |
Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... |
ORPHA:171 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Familial Spontaneous Pneumothorax |
|
Pneumothorax, Abnormal pleura morphology |
ORPHA:2903 |
Scorpion Envenomation |
|
Bundle branch block, Acute pancreatitis, Ketonuria, Tachycardia, Elevated circulating aspartate a... |
ORPHA:466677 |
Avian Influenza |
|
Elevated hepatic transaminase, Lymphopenia, Pneumonia, Congestive heart failure, Pneumothorax, He... |
ORPHA:454836 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Increase... |
OMIM:304790 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Tachycardia, Fasciitis, Myositis, Pneumonia, Maculopapular exanthe... |
ORPHA:39812 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma... |
OMIM:209920 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Abnormal lung morphology, Parapro... |
ORPHA:91139 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Pulmo... |
OMIM:105210 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra... |
OMIM:614921 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hepatitis... |
ORPHA:584 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Reduced natur... |
OMIM:615559 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Edema, Increased circulating myelocyte count, Infectious encephal... |
ORPHA:36234 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness |
ORPHA:2485 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue |
ORPHA:2762 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc... |
OMIM:613404 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Cili... |
OMIM:610852 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Recurrent fractures |
OMIM:616833 |
Sydenham Chorea |
|
Septic arthritis, Endocarditis |
ORPHA:306731 |
Kawasaki Disease |
|
Pericarditis, Proteinuria, Skin rash, Edema, Recurrent pharyngitis, Cervical lymphadenopathy, Leu... |
ORPHA:2331 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Autoimmune thr... |
ORPHA:391487 |
Pseudoachondroplasia |
|
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss... |
ORPHA:750 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Jaundice, Hepatic ... |
ORPHA:186 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density, Skin rash, Increased circulating IgM level |
ORPHA:37748 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Edema, Hepatic steatosis, Hemolytic anemia, Hepa... |
OMIM:615846 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation,... |
ORPHA:980 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans |
OMIM:165800 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... |
ORPHA:166002 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum |
ORPHA:1822 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Osteoarthritis |
OMIM:614135 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility |
ORPHA:63442 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Abnormal joint morphology, Limitation of joi... |
ORPHA:47612 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Xerostomia, He... |
ORPHA:227990 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor... |
ORPHA:37042 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash... |
ORPHA:572 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... |
ORPHA:275 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoacid... |
OMIM:619991 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... |
ORPHA:101330 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Arthritis, ... |
ORPHA:229717 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis |
OMIM:616414 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Xerostomia, He... |
ORPHA:227982 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Dehydrati... |
ORPHA:2552 |
Acute Lung Injury |
|
Shock, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Edema, D... |
ORPHA:178320 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste... |
OMIM:132400 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
Ogden Syndrome |
|
Lymphedema, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency anemia, Ma... |
OMIM:300855 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum |
ORPHA:85198 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Hypersplenism,... |
OMIM:613385 |
Hemophilia A |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306700 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N... |
ORPHA:3260 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis |
OMIM:611762 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... |
OMIM:607078 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis |
OMIM:618618 |
Japanese Encephalitis |
|
Neutrophilia, Increased circulating IgM level, Increased circulating antibody level, Infectious e... |
ORPHA:79139 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... |
ORPHA:53 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Increased circulat... |
ORPHA:448237 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ... |
ORPHA:440713 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc... |
ORPHA:1855 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Raynaud phenomenon, Hepatitis, Abnormal thymus... |
ORPHA:589 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Joint stiffness |
ORPHA:1345 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Homocitrullinuria, Decreased liver function, Hepatomegaly |
OMIM:238970 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... |
OMIM:619510 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Lesch-Nyhan Syndrome |
|
Gout |
ORPHA:510 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Hypotension, Prolonged neonatal jaundice |
ORPHA:199296 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Autoimmunity, Eczema, Recurrent pneumonia, Decreased circulating antibody level, Septic arthritis |
OMIM:617780 |
Wilson Disease |
|
Acute hepatic failure, Edema, Osteoarthritis, Pedal edema, Aminoaciduria, Hepatic steatosis, Hepa... |
OMIM:277900 |
Hemophilia B |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Hepatitis, Retinal hemorrhage, M... |
ORPHA:319251 |
Hypochondroplasia |
|
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum |
ORPHA:429 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... |
ORPHA:2357 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... |
OMIM:208230 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Cellular urinary cast... |
ORPHA:509 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Neutropenia, Nephri... |
ORPHA:73263 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ... |
ORPHA:228426 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Conjunctivitis, Skin rash, Uveitis |
OMIM:120100 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk... |
ORPHA:319218 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Xerostomia, Leukopenia, Tubulo... |
ORPHA:289390 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien... |
OMIM:269200 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Erythema... |
OMIM:614700 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... |
ORPHA:99642 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Hep... |
OMIM:619381 |
Pfapa Syndrome |
|
Arthritis, Infectious encephalitis |
ORPHA:42642 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr... |
ORPHA:324964 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis |
ORPHA:166100 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Anomalous origin of one pulmonary artery from ascending aorta,... |
ORPHA:3384 |
Relapsing Polychondritis |
|
Episcleritis, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna, Keratitis, Ate... |
ORPHA:728 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Conge... |
OMIM:203800 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... |
ORPHA:93351 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... |
OMIM:608654 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Atypical or p... |
ORPHA:83471 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... |
ORPHA:93311 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Skin rash, Cheilitis, Hepatitis, Hematuria |
ORPHA:1334 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth... |
ORPHA:85414 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Autoimmunity |
ORPHA:375 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Postinfectious Vasculitis |
|
Gastrointestinal inflammation, Bacterial endocarditis, Recurrent streptococcus pneumoniae infecti... |
ORPHA:48435 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bronchiectasis, Joint hypermobility |
OMIM:620080 |
Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Myositis |
ORPHA:3165 |
Hemochromatosis, Type 2A |
|
Arthritis |
OMIM:602390 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... |
OMIM:186580 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Familial Cold Urticaria |
|
Arthritis, Conjunctivitis |
ORPHA:47045 |
Majeed Syndrome |
|
Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Pustul... |
ORPHA:77297 |
Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Arthritis |
ORPHA:85446 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum |
OMIM:271650 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, D... |
ORPHA:331235 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis, Inc... |
OMIM:617591 |
Cinca Syndrome |
|
Patellar overgrowth, Arthritis, Skin rash, Uveitis |
OMIM:607115 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth... |
ORPHA:85438 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent ... |
ORPHA:343 |
Hemochromatosis, Type 3 |
|
Arthritis |
OMIM:604250 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Ulnar Hemimelia |
|
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... |
ORPHA:93320 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis |
OMIM:612260 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... |
ORPHA:166011 |
Catastrophic Antiphospholipid Syndrome |
|
Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Myocarditis, Syste... |
ORPHA:464343 |
Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Osteoarthritis |
ORPHA:90653 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv... |
OMIM:142680 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Microvesicular hepatic steatosis, Hypertension, Mitral regurgitation, Hyp... |
OMIM:220111 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... |
OMIM:259100 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Arthritis, Osteomyelitis, Septic arthritis |
OMIM:619423 |
Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Fulminant hepatitis, Leukopenia, Maculopapular exanthema, Atelec... |
ORPHA:319213 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist |
ORPHA:1657 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... |
ORPHA:575 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Joint swelling, Uveitis |
ORPHA:91546 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis |
OMIM:614204 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... |
OMIM:620233 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Polyhydramnios, Hepatitis, Hypoplasia of th... |
ORPHA:436252 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Severe Hemophilia A |
|
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join... |
ORPHA:169802 |
Alpha-Mannosidosis |
|
Chronic otitis media, Arthritis, Synostosis of joints |
ORPHA:61 |
Hypophosphatasia |
|
Emphysema, Respiratory insufficiency |
ORPHA:436 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Splenomegaly, Osteoarthritis, Hepatitis, ... |
ORPHA:355 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Joint swelling, Joint hemo... |
ORPHA:169805 |
Hemochromatosis, Type 4 |
|
Osteoarthritis |
OMIM:606069 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Nail-Patella Syndrome |
|
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... |
ORPHA:2614 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout |
OMIM:618061 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Antiphospholipid antibody positivity, Skin rash, Discoid lupus rash, Antinuclear antibo... |
ORPHA:93552 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art... |
ORPHA:449280 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... |
ORPHA:727 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Cervical subluxation |
OMIM:184100 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... |
ORPHA:206572 |
Mccune-Albright Syndrome |
|
Pancytopenia, Hyperphosphaturia, Hepatocellular adenoma, Hepatitis, Cholestasis, Renal phosphate ... |
ORPHA:562 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Episcleritis, Skin rash, Autoimmunity, Uveitis, Arthritis, Conjunctivitis, Inf... |
ORPHA:36412 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Pneumonia |
OMIM:613328 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Joint stiffness, Myocarditis, Osteoly... |
ORPHA:809 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... |
OMIM:203500 |
Takayasu Arteritis |
|
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis |
ORPHA:3287 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis... |
ORPHA:90062 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... |
ORPHA:100026 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout |
OMIM:617056 |
Pseudoachondroplasia |
|
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... |
OMIM:177170 |
Adiposis Dolorosa |
|
Arthritis, Recurrent skin infections, Autoimmunity |
ORPHA:36397 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, Hepatitis, Hypotensi... |
ORPHA:199299 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis |
OMIM:619825 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure... |
ORPHA:415 |
Laron Syndrome |
|
Osteoarthritis, Abnormality of the elbow |
ORPHA:633 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener... |
ORPHA:93360 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Cerebral edema, Optic neuritis, Myelitis |
ORPHA:83597 |
Thymoma |
|
Myositis, Glomerulonephritis, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Ulce... |
ORPHA:99867 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Acne, Osteoporosis |
ORPHA:77296 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Gout |
ORPHA:411543 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis |
OMIM:300219 |
Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility |
OMIM:108300 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocation, Knee disloca... |
OMIM:618000 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis |
ORPHA:3099 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Edema, Nephrotic range proteinuria, Ac... |
ORPHA:544482 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthritis, Inflammation of the... |
ORPHA:29207 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o... |
OMIM:251450 |
Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, I... |
OMIM:260920 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Flexion contracture, Autoimmunity, Osteolysis |
ORPHA:220393 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Rheumatoid factor positive, Pneumonia, Glomerulone... |
ORPHA:1304 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi... |
ORPHA:2796 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Myocarditis, Endoc... |
ORPHA:183 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... |
OMIM:301074 |
Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma |
ORPHA:247353 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm... |
ORPHA:324625 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Pulmonar... |
OMIM:600376 |
Dowling-Degos Disease |
|
Arthritis, Acne inversa |
ORPHA:79145 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Increased circulating ant... |
ORPHA:77259 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Psoriasiform dermatitis, Decreased circulating antibody level, Decreased circulating ... |
ORPHA:221139 |
Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Arthritis, Decreased circulating total IgM, Otitis media, Recurre... |
ORPHA:420741 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Polymyositis |
|
Arthritis, Pericarditis, Autoimmunity, Chondrocalcinosis |
ORPHA:732 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Osteoarthritis, Limited elbow extension, Genu varum |
OMIM:602111 |
Localized Scleroderma |
|
Fasciitis, Autoimmunity, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finge... |
ORPHA:90289 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Joint stiffness, Osteoporosis, Arthritis, Joint swelling, Stiff interphalangeal joints |
ORPHA:465508 |
Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Discoid lupus rash, Antinuclear antibody positivity, Anti-La/SS-B antibody posit... |
ORPHA:536 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join... |
ORPHA:56 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets |
OMIM:307800 |
Whipple Disease |
|
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:3452 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... |
ORPHA:1427 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Erythema nodosum, Decreased circulating antibody level, Arthritis, Panniculiti... |
OMIM:615688 |
Congenital Tricuspid Stenosis |
|
Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Glycogen Storage Disease Vii |
|
Gout |
OMIM:232800 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... |
OMIM:607944 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def... |
ORPHA:538 |
Farber Disease |
|
Abnormality of the knee, Flexion contracture, Osteoporosis, Abnormality of the elbow, Arthritis, ... |
ORPHA:333 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Antinuclear antibody ... |
ORPHA:90291 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... |
ORPHA:79128 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... |
ORPHA:1572 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Pulmonar... |
OMIM:187300 |
Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis |
ORPHA:92050 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Fol... |
ORPHA:228123 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed femoral head ossif... |
ORPHA:93307 |
Occipital Horn Syndrome |
|
Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Esophagitis |
ORPHA:198 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... |
ORPHA:89936 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia |
OMIM:215150 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... |
ORPHA:93314 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Rheumatoid factor posi... |
ORPHA:49041 |
Idiopathic Camptocormia |
|
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis |
ORPHA:1320 |
Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... |
ORPHA:810 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Autoimmunity, Increased circulating IgA level, Antinuclear antibody positiv... |
ORPHA:2298 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Telangiectasia, Hematochezia, Mitral regurgitati... |
OMIM:175050 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Autoimmunity, Limitation of joint mobility, Arthritis |
ORPHA:93672 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis |
ORPHA:342 |
Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... |
ORPHA:90340 |
Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
Familial Mediterranean Fever |
|
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas |
OMIM:249100 |
Sitosterolemia 1 |
|
Arthritis, Impaired platelet aggregation |
OMIM:210250 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Autoimmunity, Keratitis, Arthritis, Inflammation of the large intestine, Conju... |
ORPHA:906 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Generalized bone deminer... |
ORPHA:93352 |
Giant Cell Arteritis |
|
Arthritis, Pericarditis, Joint stiffness |
ORPHA:397 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Elevated gamma-glu... |
ORPHA:64 |
Listeriosis |
|
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocardit... |
ORPHA:533 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis |
ORPHA:761 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand |
OMIM:190350 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphysema, Peripheral pul... |
OMIM:613177 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restri... |
OMIM:181000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Hepatomegaly, Defective production of NFKB1-dependent cytokines, Recurrent respirat... |
OMIM:612132 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Recurrent pneumonia, Cough |
OMIM:306400 |
Marshall Syndrome |
|
Osteoarthritis, Genu valgum |
ORPHA:560 |
Hereditary Spherocytosis |
|
Maculopapular exanthema, Gout |
ORPHA:822 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis |
OMIM:161700 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Gout |
ORPHA:412 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Progressive flexion contractures, Rheumatoid arthritis |
ORPHA:98808 |
Glycogen Storage Disease Ia |
|
Osteoporosis, Pancreatitis, Gout |
OMIM:232200 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Osteoporosis, Pancreatitis, Gout |
OMIM:232220 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Increased circulating interferon... |
ORPHA:51 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Loeys-Dietz Syndrome 5 |
|
Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture... |
OMIM:615582 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:174000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
Multiple Osteochondromas |
|
Abnormality of the knee, Limitation of joint mobility, Abnormal carpal morphology, Femoroacetabul... |
ORPHA:321 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:269860 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, Ulcerative ... |
ORPHA:79259 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent fractures, Osteomalacia, Joint stiffness, Hip dislocation, Cheilitis, Genu valgum, Join... |
ORPHA:534 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,... |
ORPHA:707 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transien... |
ORPHA:2929 |
22Q11.2 Deletion Syndrome |
|
Acne, Impaired T cell function, Autoimmunity, Seborrheic dermatitis, Multiple suture craniosynost... |
ORPHA:567 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Joint hyperflexibility, Arthritis |
ORPHA:93111 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Increased circula... |
ORPHA:99826 |
Dermatomyositis |
|
Pericarditis, Autoimmunity, Myocarditis, Arthritis, Chondrocalcinosis |
ORPHA:221 |
Glycogen Storage Disease Ic |
|
Stomatitis, Inflammation of the large intestine, Gout, Chronic pancreatitis |
OMIM:232240 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Osteoarthritis |
OMIM:619714 |
Hunter-Macdonald Syndrome |
|
Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c... |
OMIM:611962 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout |
OMIM:300661 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Osteogenesis Imperfecta |
|
Osteopenia, Recurrent fractures, Protrusio acetabuli, Fractures of the long bones, Osteoarthritis... |
ORPHA:666 |
Fabry Disease |
|
Arthritis, Reduced bone mineral density |
ORPHA:324 |
Stickler Syndrome |
|
Joint dislocation, Protrusio acetabuli, Osteoarthritis, Hip dislocation, Uveitis, Reduced bone mi... |
ORPHA:828 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility |
ORPHA:217085 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility |
ORPHA:217093 |
Gaisböck Syndrome |
|
Cholecystitis, Gout |
ORPHA:90041 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo... |
ORPHA:287 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ... |
ORPHA:642 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Pericarditis, Systemic lupus erythematosus, Arthritis |
ORPHA:3310 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... |
ORPHA:740 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Recurrent skin infections, Camptodactyly of finger, Synovitis, Widely patent fontanel... |
ORPHA:3455 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco... |
ORPHA:99921 |
Noonan Syndrome 1 |
|
Cubitus valgus, Synovitis |
OMIM:163950 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Chondrocalcinosis, Hashimoto thyroiditis, Gout |
ORPHA:358 |
Marfan Syndrome |
|
Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl... |
OMIM:154700 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, ... |
OMIM:613795 |
Mucopolysaccharidosis Type 2 |
|
Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of the large joints,... |
ORPHA:580 |
Lacrimoauriculodentodigital Syndrome |
|
Arthritis, Keratoconjunctivitis sicca, Keratoconjunctivitis |
ORPHA:2363 |
Renal Cysts And Diabetes Syndrome |
|
Gout |
OMIM:137920 |
Acromegaly |
|
Joint swelling, Osteoarthritis, Acne |
ORPHA:963 |
Aspartylglucosaminuria |
|
Chronic otitis media, Arthritis, Joint stiffness |
ORPHA:93 |
Somatomammotropinoma |
|
Joint swelling, Osteoarthritis |
ORPHA:314769 |
Digeorge Syndrome |
|
Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent sinusitis |
OMIM:188400 |
Choreoacanthocytosis |
|
Arthritis |
ORPHA:2388 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility... |
ORPHA:286 |