Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Chondrocalcinosis 2 |
|
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy |
OMIM:118600 |
Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
Osteoarthritis Susceptibility 3 |
|
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... |
OMIM:607850 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints |
ORPHA:50809 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Palmar telangiectasia, Plantar telangiectasia |
OMIM:175850 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis |
OMIM:216950 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Bronchiectasis, Atelectasis, Ciliary dyskinesia |
OMIM:615294 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Hypotension, Abnormal circulating interleukin concentration, Abnormality o... |
ORPHA:70578 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Respiratory tract infection, Autoim... |
ORPHA:444463 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Acute kidney injury, Abnorm... |
ORPHA:542323 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart... |
ORPHA:85435 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Kienbock Disease |
|
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis |
ORPHA:97332 |
Osteochondrosis Of The Tarsal Bone |
|
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... |
ORPHA:563991 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis, Ciliary dyskinesia |
OMIM:615872 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Nephropathy, Abnormal pulmonary interstitial morphology, Congestive heart ... |
ORPHA:330001 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... |
OMIM:105835 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Preeclampsia |
|
Chronic kidney disease, Elevated systolic blood pressure, Abnormality of the hepatic vasculature,... |
ORPHA:275555 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure, Edema |
OMIM:178400 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... |
OMIM:300635 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Lissencephaly, Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Periphera... |
ORPHA:75249 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Oliguria, Renal insufficiency, Pleural effusion, Leukocytosis, Pulmonary edema, Arrh... |
ORPHA:188 |
Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... |
ORPHA:57777 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... |
OMIM:208250 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation... |
ORPHA:2619 |
Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... |
ORPHA:70587 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... |
OMIM:115197 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... |
ORPHA:199241 |
Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... |
ORPHA:402823 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
Mueller-Weiss Syndrome |
|
Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at... |
ORPHA:566943 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I... |
ORPHA:85410 |
Familial Multiple Trichoepithelioma |
|
Telangiectasia of the skin |
ORPHA:867 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Nephrotic syndrome, Hepatitis, Bronchitis, Cholestasis, Emphysema, Cirrhosis, He... |
ORPHA:60 |
Familial Calcium Pyrophosphate Deposition |
|
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... |
ORPHA:1416 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis |
OMIM:614379 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Edema, Atelectasis |
OMIM:267450 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros... |
ORPHA:564003 |
Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Spider hemangioma, Elevated circulating hepatic transaminase concent... |
ORPHA:2137 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Mucopolysaccharidosis, Type Ix |
|
Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti... |
OMIM:601492 |
Hellp Syndrome |
|
Generalized edema, Acute kidney injury, Hypotension, Elevated circulating hepatic transaminase co... |
ORPHA:244242 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
Rombo Syndrome |
|
Facial telangiectasia |
OMIM:180730 |
Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
Uv-Sensitive Syndrome 3 |
|
Telangiectasia |
OMIM:614640 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis |
OMIM:601457 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El... |
OMIM:613812 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Arthritis |
OMIM:617772 |
Osteoarthritis With Mild Chondrodysplasia |
|
Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node |
OMIM:604864 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedem... |
ORPHA:139402 |
Tako-Tsubo Cardiomyopathy |
|
Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricular fibrillation, ST segment elevation... |
ORPHA:66529 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Asc... |
OMIM:261740 |
Insulin Autoimmune Syndrome |
|
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... |
ORPHA:411593 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent pneumonia, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia |
OMIM:619436 |
Dracunculiasis |
|
Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc... |
ORPHA:231 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosp... |
ORPHA:169160 |
Papa Syndrome |
|
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Increased circula... |
ORPHA:69126 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Hypotension, Abnormal lung morphology, Hepatitis, Lymphopenia, Abnor... |
ORPHA:549 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis |
OMIM:615506 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... |
OMIM:308230 |
Melioidosis |
|
Pneumonia, Hepatitis, Foot osteomyelitis, Cutaneous abscess, Shock, Abnormality of the spleen, Pa... |
ORPHA:31202 |
Multicentric Reticulohistiocytosis |
|
Arthritis |
ORPHA:139436 |
Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Limited hip movement |
ORPHA:86820 |
Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... |
OMIM:615207 |
Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Hematuria, Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephri... |
ORPHA:340 |
Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis |
OMIM:609939 |
High Altitude Pulmonary Edema |
|
Pulmonary edema, Tachycardia, Leukocytosis |
ORPHA:330012 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Genu valgum, Abno... |
ORPHA:93308 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis |
ORPHA:2206 |
Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne... |
ORPHA:33110 |
X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Skin rash, Abnormality o... |
ORPHA:47 |
Mhc Class I Deficiency 1 |
|
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis |
OMIM:604571 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to de... |
OMIM:615451 |
C1Q Deficiency 2 |
|
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody positivity, ... |
OMIM:620321 |
Congenital Enterovirus Infection |
|
Hypotension, Hepatic failure, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, ... |
ORPHA:292 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... |
ORPHA:905 |
Cranio-Osteoarthropathy |
|
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... |
ORPHA:1525 |
Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Hepatomegaly, Endocarditis, ... |
ORPHA:781 |
Adult-Onset Still Disease |
|
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... |
ORPHA:829 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia |
OMIM:215520 |
Mogs-Cdg |
|
Decreased circulating IgG level, Generalized edema, Hepatosplenomegaly, Decreased circulating IgA... |
ORPHA:79330 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ... |
OMIM:600969 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... |
ORPHA:79127 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
Beukes Hip Dysplasia |
|
Shallow acetabular fossae, Osteoarthritis |
OMIM:142669 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti... |
OMIM:604416 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai... |
ORPHA:73224 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca |
OMIM:270150 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... |
ORPHA:64739 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... |
ORPHA:1163 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Congestive ... |
ORPHA:139507 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Panacinar emphysema, Chronic bronchitis |
OMIM:613490 |
Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Antiphospho... |
OMIM:152700 |
Hip Dysplasia, Beukes Type |
|
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit... |
ORPHA:2114 |
Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg... |
ORPHA:91138 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Limitation of joint mobility, Arthritis |
ORPHA:2582 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis |
ORPHA:567544 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... |
ORPHA:848 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis |
ORPHA:363523 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis |
ORPHA:922 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating... |
OMIM:616100 |
Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... |
ORPHA:31826 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit... |
OMIM:620565 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity, Chronic si... |
ORPHA:397596 |
Cocaine Intoxication |
|
Pulmonary edema, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Diffus... |
ORPHA:90068 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Avian Influenza |
|
Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increase... |
ORPHA:454836 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Bronchopulmonary Dysplasia |
|
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis |
ORPHA:70589 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Bronchiectasis |
ORPHA:1164 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Bone marrow hypocellularity, Mandibular osteomyelitis, Fractures of the long ... |
OMIM:166600 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
Scorpion Envenomation |
|
Acute pancreatitis, Acute kidney injury, Cardiogenic shock, Prominent U wave, Glycosuria, Ketonur... |
ORPHA:466677 |
Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Panhypogammaglob... |
OMIM:209920 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... |
ORPHA:85408 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... |
OMIM:194380 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... |
OMIM:304790 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... |
OMIM:612387 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
Graft Versus Host Disease |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... |
ORPHA:39812 |
Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, A... |
ORPHA:294 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... |
OMIM:130060 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... |
OMIM:208085 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Giant cel... |
OMIM:214950 |
Amyloidosis, Hereditary Systemic 1 |
|
Orthostatic hypotension due to autonomic dysfunction, Urinary incontinence, Pulmonary edema, Card... |
OMIM:105210 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Lymphedema, Ascites, Abnormal pleura morphology, Splenomegaly, Mucopolysacchariduria, ... |
ORPHA:584 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Crescentic glomerulonephritis, Arthritis |
OMIM:616414 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility |
OMIM:130020 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Autoimmunity, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, ... |
ORPHA:85414 |
Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat... |
OMIM:614921 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Nephrotic syndrome, Vasculitis, Gastrointestinal hemorrhage, Paraprot... |
ORPHA:91139 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Anticardiolipin IgG antibody positivity, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt... |
OMIM:615559 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive |
ORPHA:79099 |
Progressive Osseous Heteroplasia |
|
Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis |
ORPHA:2762 |
Bacterial Toxic-Shock Syndrome |
|
Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Renal insuffici... |
ORPHA:36234 |
Sydenham Chorea |
|
Septic arthritis, Endocarditis |
ORPHA:306731 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... |
OMIM:613404 |
Paget Disease Of Bone 6 |
|
Recurrent fractures, Osteoarthritis |
OMIM:616833 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter... |
ORPHA:391487 |
Familial Spontaneous Pneumothorax |
|
Abnormal pleura morphology, Pneumothorax |
ORPHA:2903 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Osteochondritis dissecans, Premature osteoarthritis |
OMIM:165800 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Abnormal ciliary motility, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:610852 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... |
OMIM:618549 |
Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Pulmonary hypoplasia, Atrial flutter, Congestive heart failure, Abnormal EKG... |
ORPHA:980 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... |
OMIM:106300 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Irregular acetabular roof, Joint stiffness, Genu valgum, Increas... |
ORPHA:750 |
Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Hepatomegaly, ... |
OMIM:615846 |
Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat... |
OMIM:300755 |
Schnitzler Syndrome |
|
Increased bone mineral density, Increased circulating IgM level, Skin rash, Arthritis |
ORPHA:37748 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Ectopic ossification in muscle tissue, Arthritis |
ORPHA:2485 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Int... |
OMIM:243150 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the ankle, Genu valgum, Abnormality of the epiphyses of the elbow, Osteoarthritis,... |
ORPHA:166002 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus |
ORPHA:399180 |
Dysplasia Epiphysealis Hemimelica |
|
Joint stiffness, Genu valgum, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu varum |
ORPHA:1822 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Osteoarthritis |
OMIM:614135 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hypermobility |
ORPHA:63442 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Panh... |
ORPHA:572 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Polyarticu... |
ORPHA:85436 |
Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Limitation of joint mobility, Abnormal joint mo... |
ORPHA:47612 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Joint swelling, Osteolytic defects of the phalanges of th... |
OMIM:228000 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Hypersplenism, Decreased circulating IgA level, Portal hypertension, Splenomegaly, Pan... |
OMIM:613385 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic... |
OMIM:619991 |
Isolated Agammaglobulinemia |
|
Pneumonia, Autoimmunity, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality ... |
ORPHA:229717 |
Achalasia, Familial Esophageal |
|
Rheumatoid arthritis, Keratoconjunctivitis sicca |
OMIM:200400 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Shock, Ab... |
ORPHA:178320 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ... |
ORPHA:275 |
Ogden Syndrome |
|
Torsade de pointes, Recurrent otitis media, Pulmonary edema, Premature ventricular contraction, A... |
OMIM:300855 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Delayed epiphyseal ossification, Hip osteoarthritis, Limited hip movement, Joint stiffness, Genu ... |
OMIM:132400 |
Microsporidiosis |
|
Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper... |
ORPHA:2552 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Genu valgum, Generalized joint hypermobility, Osteoarthritis, Enlarged joints |
ORPHA:85198 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... |
ORPHA:186 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Thrombocytosis, Erythroderm... |
ORPHA:3260 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections |
ORPHA:3348 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Hypotension, Hepatitis |
ORPHA:199296 |
Japanese Encephalitis |
|
Infectious encephalitis, Pulmonary edema, Increased circulating antibody level, Neutrophilia, Cer... |
ORPHA:79139 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Premature osteoarthritis, Genu valgum, Delayed tarsal ossification, Delayed ossification of carpa... |
OMIM:607078 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Arthritis, Skin rash, Erythema nodosum |
OMIM:611762 |
Cirrhosis, Familial |
|
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhos... |
OMIM:215600 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... |
ORPHA:2302 |
Spondyloenchondrodysplasia |
|
Chronic kidney disease, Vasculitis, Pneumonia, Hepatitis, Pancytopenia, Skin rash, Autoimmune hem... |
ORPHA:1855 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... |
OMIM:619510 |
Zika Virus Disease |
|
Myelitis, Ankle swelling, Wrist swelling, Skin rash, Maculopapular exanthema, Infectious encephal... |
ORPHA:448237 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Immotile cilia, Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia |
OMIM:244400 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Acute hepatitis, Decreased liver function, Homocitrullinuria |
OMIM:238970 |
Zygomycosis |
|
Pustule, Acute infectious pneumonia, Neutropenia, Periorbital edema, Endocarditis, Gastrointestin... |
ORPHA:73263 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Generalized osteoscleros... |
ORPHA:53 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... |
ORPHA:231226 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Hypo... |
ORPHA:440713 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Joint stiffness, Osteoarthritis |
ORPHA:1345 |
Recurrent Respiratory Papillomatosis |
|
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... |
ORPHA:60032 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... |
ORPHA:79126 |
Lesch-Nyhan Syndrome |
|
Gout |
ORPHA:510 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Eczematoid dermatitis, Autoimmunity, Septic arthritis, Decreased circulating... |
OMIM:617780 |
Rift Valley Fever |
|
Macular edema, Elevated circulating hepatic transaminase concentration, Hepatitis, Increased circ... |
ORPHA:319251 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Increased circulating interf... |
ORPHA:540 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... |
OMIM:614700 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
Leptospirosis |
|
Hypotension, Acute kidney injury, Uveitis, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Ski... |
ORPHA:509 |
Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... |
ORPHA:289390 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyto... |
ORPHA:228426 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Glycosuria, Hepatitis, Myositis, Hashimoto thyroiditis, Raynaud phenomenon,... |
ORPHA:589 |
Hypochondroplasia |
|
Abnormality of the elbow, Genu varum, Osteoarthritis, Joint hypermobility |
ORPHA:429 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody l... |
ORPHA:319218 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Hematochezia, Giant cell hepatitis, Elevated circulating hepatic trans... |
ORPHA:79095 |
Progressive Pseudorheumatoid Dysplasia |
|
Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal... |
OMIM:208230 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Pulmonary hemorrhage, Hepatosplenomegaly, Pancytopenia, A... |
ORPHA:79124 |
Kawasaki Disease |
|
Vasculitis, Hepatitis, Sterile pyuria, Congestive heart failure, Conjunctivitis, Abnormal pulmona... |
ORPHA:2331 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Conjunctivitis, Skin rash, Arthritis, Uveitis |
OMIM:120100 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Inf... |
OMIM:307200 |
Pfapa Syndrome |
|
Arthritis, Infectious encephalitis |
ORPHA:42642 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, R... |
OMIM:619381 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... |
OMIM:180300 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology |
ORPHA:2357 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip osteoarthritis, Limited hip movement, Hip contracture, Abnormality of the knee, Hip subluxati... |
ORPHA:99642 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc... |
OMIM:269200 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
Truncus Arteriosus |
|
Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary artery atresia, Abnormal lung lobati... |
ORPHA:3384 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... |
ORPHA:209902 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis |
ORPHA:166100 |
Sapho Syndrome |
|
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... |
ORPHA:793 |
Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Atelectasis, Large vessel vasculitis, Recurrent aphthous stomatiti... |
ORPHA:728 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... |
ORPHA:324964 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Eczematoid dermatitis, Decreased proportion of naive T cells, Aplasia of the thymus, A... |
ORPHA:83471 |
Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Skin rash, Hematuria, Recurrent respiratory infections, Cheilitis |
ORPHA:1334 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... |
ORPHA:93351 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:607676 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R... |
OMIM:608654 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Premature osteoarthritis, Limited hip movement, Genu valgum, Joint stiffness, Intervertebral disk... |
ORPHA:93311 |
Anti-Glomerular Basement Membrane Disease |
|
Autoimmunity, Arthritis |
ORPHA:375 |
Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ... |
OMIM:617321 |
Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Increased circulating antibody level, Hematuria, Increased ... |
ORPHA:48435 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:242700 |
Eosinophilic Fasciitis |
|
Myositis, Arthritis, Fasciitis |
ORPHA:3165 |
Vexas Syndrome |
|
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... |
OMIM:301054 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Bronchiectasis, Osteoarthritis, Joint hypermobility |
OMIM:620080 |
Wilson Disease |
|
Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas... |
OMIM:277900 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Intraalveolar phospholipid accumulation |
OMIM:300770 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Increased susceptibility to fractures, Synov... |
ORPHA:77297 |
Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling... |
OMIM:186580 |
Familial Cold Urticaria |
|
Conjunctivitis, Arthritis |
ORPHA:47045 |
Hemochromatosis, Type 2A |
|
Arthritis |
OMIM:602390 |
Aicardi-Goutieres Syndrome 6 |
|
Increased circulating Interferon-alpha concentration, Chilblains |
OMIM:615010 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Wild Type Abeta2M Amyloidosis |
|
Arthritis, Arthropathy |
ORPHA:85446 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... |
OMIM:615067 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Genu valgum, Limited elbow extension, Osteoarthritis, Capitate-hamate fusion |
OMIM:271650 |
Cinca Syndrome |
|
Patellar overgrowth, Skin rash, Arthritis, Uveitis |
OMIM:607115 |
Catastrophic Antiphospholipid Syndrome |
|
Anticardiolipin IgG antibody positivity, Systemic lupus erythematosus, Abnormal circulating cytok... |
ORPHA:464343 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Skin rash, Increased circulating antibody level, Myositis, Arthritis, Sinusitis, Conjunctivitis, ... |
OMIM:617591 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Nephrocalcinosis, Chronic mucocutaneous candidiasis, Keratoco... |
OMIM:240300 |
Hemochromatosis, Type 3 |
|
Arthritis |
OMIM:604250 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis |
ORPHA:2902 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Abnormality of the ankle, Anterior uveitis, Sacroiliac arthritis, Abnormal hi... |
ORPHA:85438 |
Hypophosphatasia |
|
Emphysema |
ORPHA:436 |
Rat-Bite Fever |
|
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... |
ORPHA:31205 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Increased circulating I... |
ORPHA:343 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Immunodeficiency 68 |
|
Septic arthritis, Recurrent skin infections, Lymphadenitis |
OMIM:612260 |
Gaucher Disease |
|
Pancytopenia, Increased circulating antibody level, Hematuria, Cirrhosis, Polyclonal elevation of... |
ORPHA:355 |
Periodic Fever, Familial, Autosomal Dominant |
|
Erysipelas, Polyarticular arthritis, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculop... |
OMIM:142680 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Autoimmune ... |
ORPHA:331235 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Joint hypermobility |
ORPHA:90653 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Limitation of joint mobility, Joint stiffness, Genu valgum, Abnormal acetabulum morphology, Abnor... |
ORPHA:166011 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peri... |
ORPHA:244 |
Ulnar Hemimelia |
|
Abnormality of the humeroulnar joint, Carpal synostosis, Limited elbow flexion, Elbow flexion con... |
ORPHA:93320 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros... |
OMIM:610978 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
Lujo Hemorrhagic Fever |
|
Lymphopenia, Periorbital edema, Cerebral edema, Increased circulating lactate dehydrogenase conce... |
ORPHA:319213 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypospadias, Ketonuria, Hypertrophic cardiomyopathy, Mitral regurgitation, Microvesicular hepatic... |
OMIM:220111 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Septic arthritis, Osteomyelitis, Arthritis |
OMIM:619423 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste... |
OMIM:259100 |
Muckle-Wells Syndrome |
|
Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Arthritis, Conju... |
ORPHA:575 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Abnormality of the wrist, Osteoarthritis, Tarsal synostosis, Osteolysis |
ORPHA:1657 |
Psoriasis 14, Pustular |
|
Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Cholangitis |
OMIM:614204 |
Severe Hemophilia A |
|
Limitation of joint mobility, Progressive joint destruction, Joint swelling, Synovitis, Limb join... |
ORPHA:169802 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,... |
ORPHA:436252 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... |
ORPHA:217563 |
Alpha-Mannosidosis |
|
Synostosis of joints, Chronic otitis media, Arthritis |
ORPHA:61 |
Lyme Disease |
|
Infectious encephalitis, Joint swelling, Arthritis, Uveitis |
ORPHA:91546 |
Moderate Hemophilia A |
|
Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Joint hemo... |
ORPHA:169805 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Antineutrophil antibody positivity, Systemic lupus erythematosus, ... |
ORPHA:93552 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi... |
ORPHA:371428 |
Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
Scedosporiosis |
|
Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica... |
ORPHA:449280 |
Hemochromatosis, Type 4 |
|
Osteoarthritis |
OMIM:606069 |
Antisynthetase Syndrome |
|
Joint dislocation, Autoimmunity, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myoc... |
ORPHA:81 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout |
OMIM:618061 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Patellar aplasia, Patellar disloc... |
ORPHA:2614 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... |
ORPHA:3243 |
Complement Factor I Deficiency |
|
Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis... |
OMIM:610984 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Autoimmunity, Episcleritis, Skin rash, Arthritis, Inflammatory abnormality of ... |
ORPHA:36412 |
Immunodeficiency 89 And Autoimmunity |
|
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening |
OMIM:619632 |
Microscopic Polyangiitis |
|
Uveitis, Autoimmunity, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pan... |
ORPHA:727 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Cervical subluxation, Arthritis |
OMIM:184100 |
Overlap Myositis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ... |
ORPHA:206572 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis |
OMIM:619825 |
Roifman-Chitayat Syndrome |
|
Pneumonia, Osteopenia, Arthritis |
OMIM:613328 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Bone marrow hypocellularity, Hepatitis, Cholestasis, Pancytopenia, Hyper... |
ORPHA:562 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Delayed epiphyseal ossification, Multiple joint dislocation, Hip subluxation, Elbow flexion contr... |
ORPHA:93360 |
Mixed Connective Tissue Disease |
|
Joint stiffness, Autoimmunity, Skin rash, Joint swelling, Myositis, Gastritis, Keratoconjunctivit... |
ORPHA:809 |
Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration... |
ORPHA:90062 |
Takayasu Arteritis |
|
Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis |
ORPHA:3287 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Autoimmunity, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocyt... |
ORPHA:100026 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout |
OMIM:617056 |
Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase... |
OMIM:203800 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypotension, Hepatitis, Macrocytic anemia, Hashimoto thyroiditis, Eosinophilia... |
ORPHA:199299 |
Hereditary Hemorrhagic Telangiectasia |
|
Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Cirrhosis, Retinal telangiectasia, Gastro... |
ORPHA:774 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
Adiposis Dolorosa |
|
Recurrent skin infections, Autoimmunity, Arthritis |
ORPHA:36397 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Genu recurvatum, Ulnar deviation of the wrist, Genu valgum, Limi... |
OMIM:177170 |
Thymoma |
|
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... |
ORPHA:99867 |
Laron Syndrome |
|
Osteoarthritis, Abnormality of the elbow |
ORPHA:633 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Recurrent sinusitis, Joint hypermobility, Osteoarthritis, Hyperextensibility o... |
OMIM:130000 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... |
ORPHA:415 |
Behcet Syndrome |
|
Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis |
OMIM:109650 |
Acute Disseminated Encephalomyelitis |
|
Myelitis, Herpes simplex encephalitis, Optic neuritis, Cerebral edema, Viral hepatitis |
ORPHA:83597 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Arthritis |
ORPHA:411543 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoporosis, Acne, Osteoarthritis |
ORPHA:77296 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, J... |
OMIM:618000 |
Stickler Syndrome, Type I |
|
Joint stiffness, Joint hypermobility, Arthropathy, Osteoarthritis, Arthritis |
OMIM:108300 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,... |
OMIM:301074 |
Rheumatic Fever |
|
Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis |
ORPHA:3099 |
Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis |
OMIM:300219 |
Netherton Syndrome |
|
Emphysema, Recurrent respiratory infections |
ORPHA:634 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir... |
OMIM:620233 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal dislocation, Ost... |
OMIM:251450 |
Reactive Arthritis |
|
Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti... |
ORPHA:29207 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
Reynolds Syndrome |
|
Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis |
ORPHA:779 |
Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A... |
OMIM:203500 |
Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Autoimmunity, Osteolysis, Arthritis |
ORPHA:220393 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Skin rash, Increased circulating IgA level, Arthritis, Chronic oral candidiasis, I... |
OMIM:260920 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Atopic dermatitis, Increased circulating interleukin 6 concentration, Parotitis, Decreased circul... |
OMIM:620376 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Autoimmunity, Skin rash, Increased inflammatory response, Myositis, Myocarditis, Arthritis, Sinus... |
ORPHA:183 |
Brucellosis |
|
Pneumonia, Hip osteoarthritis, Arteritis, Rheumatoid factor positive, Sacroiliac arthritis, Osteo... |
ORPHA:1304 |
Common Variable Immunodeficiency |
|
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis |
ORPHA:1572 |
Pachydermoperiostosis |
|
Limitation of joint mobility, Eczematoid dermatitis, Osteolysis, Osteomyelitis, Joint swelling, S... |
ORPHA:2796 |
Fusariosis |
|
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A... |
ORPHA:228119 |
Generalized Pustular Psoriasis |
|
Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Uveitis |
ORPHA:247353 |
Chikungunya |
|
Joint stiffness, Skin rash, Maculopapular exanthema, Joint swelling, Crusting erythematous dermat... |
ORPHA:324625 |
Localized Scleroderma |
|
Fasciitis, Sclerosis of finger phalanx, Esophagitis, Autoimmunity, Hashimoto thyroiditis, Arthrit... |
ORPHA:90289 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial telangiectasia, Cerebral hemorrhage,... |
OMIM:600376 |
Dowling-Degos Disease |
|
Acne inversa, Arthritis |
ORPHA:79145 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Decreased circulating total IgG, Psoriasiform dermatitis, Decreased specific antibody... |
ORPHA:221139 |
Otospondylomegaepiphyseal Dysplasia |
|
Limitation of joint mobility, Abnormal joint morphology, Enlarged joints, Osteoarthritis, Abnorma... |
ORPHA:1427 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... |
ORPHA:420741 |
Polymyositis |
|
Chondrocalcinosis, Autoimmunity, Arthritis, Pericarditis |
ORPHA:732 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Kid Syndrome |
|
Posterior blepharitis, Folliculitis, Acne inversa, Keratitis, Patellar hypoplasia, Psoriasiform d... |
ORPHA:477 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Genu varum, Osteoarthritis |
OMIM:602111 |
Hereditary Xanthinuria |
|
Rheumatoid arthritis, Gout, Arthropathy |
ORPHA:3467 |
Congenital Syphilis |
|
Pneumonia, Keratitis, Synovitis, Osteochondrosis, Pancreatitis, Myocarditis, Rhinitis, Maculopapu... |
ORPHA:499009 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Joint stiffness, Joint swelling, Arthropathy, Arthritis, Osteoporosis, Stiff interphalangeal joints |
ORPHA:465508 |
Whipple Disease |
|
Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis |
ORPHA:3452 |
Systemic Sclerosis |
|
Anti-centromere antibody positivity, Osteomyelitis, Joint swelling, Antinuclear antibody positivi... |
ORPHA:90291 |
Hemophilia A |
|
Joint hemorrhage, Osteoarthritis |
OMIM:306700 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections |
OMIM:219100 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Recurrent respiratory infections, Atelectasis |
ORPHA:2314 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal sacroiliac j... |
ORPHA:32960 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Recurrent otitis media, Panniculitis, Recurre... |
OMIM:615688 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Sclerosis ... |
OMIM:607944 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... |
ORPHA:51636 |
Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... |
ORPHA:79128 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis |
OMIM:123700 |
Farber Disease |
|
Abnormality of the wrist, Joint swelling, Arthritis, Abnormality of the knee, Osteoporosis, Flexi... |
ORPHA:333 |
Glycogen Storage Disease Vii |
|
Gout |
OMIM:232800 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... |
OMIM:187300 |
Lymphangioleiomyomatosis |
|
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... |
ORPHA:538 |
Systemic Lupus Erythematosus |
|
Discoid lupus rash, Antineutrophil antibody positivity, Malar rash, Anti-Sm antibody positivity, ... |
ORPHA:536 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Osteomalacia, Genu valgum, Hypophosphatemic rickets, Osteoarthritis |
OMIM:307800 |
Congenital Tufting Enteropathy |
|
Punctate keratitis, Arthritis |
ORPHA:92050 |
Coccidioidomycosis |
|
Pneumonia, Folliculitis, Morbilliform rash, Osteomyelitis, Panniculitis, Skin rash, Peritonitis, ... |
ORPHA:228123 |
Hemophilia B |
|
Joint hemorrhage, Osteoarthritis |
OMIM:306900 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Limitation of joint mobility, Stiff ankle, Elbow flexion contracture, Premature osteoarthritis, D... |
ORPHA:93307 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Polymicrogyria, Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia |
OMIM:619708 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... |
ORPHA:95430 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Hematochezia, Mitral regurgitation, Hepatic arteriovenous malformation, Telangiectasia... |
OMIM:175050 |
Occipital Horn Syndrome |
|
Hepatitis, Cholestasis, Esophagitis, Bladder diverticulum, Jaundice |
ORPHA:198 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Genu valgum, Generalized osteo... |
ORPHA:89936 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Premature osteoarthritis, Flexion contracture, Recurrent pneumonia, Enlarged joints |
OMIM:215150 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
Gaucher Disease Type 1 |
|
Osteopenia, Pathologic fracture, Increased circulating antibody level, Osteoarthritis, Osteoporos... |
ORPHA:77259 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Nephritis, Systemic lupus erythematosus, Autoimmunity, Skin rash, Antinuclear antibody... |
ORPHA:2298 |
Shigellosis |
|
Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute colitis... |
ORPHA:810 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal enchondral ossification, Premature osteoarthritis, Abno... |
ORPHA:93314 |
Igg4-Related Retroperitoneal Fibrosis |
|
Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasif... |
ORPHA:49041 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Lissencephaly, Recurrent lower respiratory tract infections, Atelectasis, Pachygyria |
ORPHA:258 |
Blau Syndrome |
|
Posterior uveitis, Limitation of joint mobility, Keratitis, Polyarticular arthritis, Camptodactyl... |
ORPHA:90340 |
Idiopathic Camptocormia |
|
Myositis, Myelitis, Osteoarthritis, Abnormal inflammatory response |
ORPHA:1320 |
Juvenile Dermatomyositis |
|
Limitation of joint mobility, Autoimmunity, Skin rash, Myositis, Arthritis, Pericarditis |
ORPHA:93672 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Autoimmunity,... |
ORPHA:906 |
Sitosterolemia 1 |
|
Arthritis, Impaired platelet aggregation |
OMIM:210250 |
Meier-Gorlin Syndrome 6 |
|
Emphysema, Recurrent respiratory infections, Simplified gyral pattern |
OMIM:616835 |
Familial Mediterranean Fever |
|
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis |
OMIM:249100 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Premature osteoarthritis, Joint hypermobility, Generalized bone ... |
ORPHA:93352 |
Interstitial Cystitis |
|
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... |
ORPHA:37202 |
Giant Cell Arteritis |
|
Joint stiffness, Arthritis, Pericarditis |
ORPHA:397 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Pulmonary hypo... |
OMIM:613177 |
Alström Syndrome |
|
Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste... |
ORPHA:64 |
Familial Mediterranean Fever |
|
Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, Pericarditis |
ORPHA:342 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis |
ORPHA:761 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia |
ORPHA:90349 |
Listeriosis |
|
Pneumonia, Arteritis, Stiff neck, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious enceph... |
ORPHA:533 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Pancreatitis, Myocardi... |
ORPHA:544482 |
Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax |
OMIM:614816 |
Behçet Disease |
|
Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis... |
ORPHA:117 |
Sarcoidosis, Susceptibility To, 1 |
|
Emphysema, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Elev... |
OMIM:181000 |
Dermatomyositis |
|
Chondrocalcinosis, Anti-Mi2 antibody positivity, Heliotrope rash, Anti-transcription intermediary... |
ORPHA:221 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Autoimmunity, Osteochondritis dissecans, Intervertebral disk degeneration, Jo... |
OMIM:619656 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand |
OMIM:190350 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Defective production of NFKB1-dependent cytokines, Splenomegaly, Recurrent respirat... |
OMIM:612132 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Increased susceptibility to fractures, Joint swelling, Prosta... |
ORPHA:56 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent pneumonia, Pleural effusion, Atelectasis |
OMIM:306400 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Aicardi-Goutières Syndrome |
|
Increased circulating interferon-gamma concentration, Autoimmunity, Chilblains, Multiple joint co... |
ORPHA:51 |
Marshall Syndrome |
|
Genu valgum, Osteoarthritis |
ORPHA:560 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Gout |
ORPHA:412 |
Hereditary Spherocytosis |
|
Maculopapular exanthema, Gout |
ORPHA:822 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Arthritis |
OMIM:161700 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... |
OMIM:130050 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Glycogen Storage Disease Ia |
|
Osteoporosis, Pancreatitis, Gout |
OMIM:232200 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Rheumatoid arthritis, Progressive flexion contractures |
ORPHA:98808 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:174000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Pulmonary fibrosis, Atelectasis |
OMIM:618278 |
Loeys-Dietz Syndrome 5 |
|
Joint hypermobility, Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finge... |
OMIM:615582 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Polymicrogyria, Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia |
OMIM:620371 |
Nocardiosis |
|
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis |
ORPHA:31204 |
Glycogen Storage Disease Ib |
|
Osteoporosis, Inflammation of the large intestine, Pancreatitis, Gout |
OMIM:232220 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia |
ORPHA:536467 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Juvenile rheumatoid arthritis, Joint contracture, Elbow contracture |
OMIM:615656 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Pulmonary hypoplasia |
OMIM:269860 |
Multiple Osteochondromas |
|
Limitation of joint mobility, Talipes valgus, Limited hip movement, Genu valgum, Femoroacetabular... |
ORPHA:321 |
Ellis Van Creveld Syndrome |
|
Emphysema, Aplasia/Hypoplasia of the lungs |
ORPHA:289 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Inflammation of the large intestine, Periodontitis, Gout, Increased susceptibility to... |
ORPHA:79259 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Anasarca, Transient ischemic attack, Sponta... |
ORPHA:2929 |
Plague |
|
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun... |
ORPHA:707 |
Oculocerebrorenal Syndrome Of Lowe |
|
Periodontitis, Osteomalacia, Joint stiffness, Genu valgum, Recurrent fractures, Joint swelling, J... |
ORPHA:534 |
Keutel Syndrome |
|
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis |
OMIM:245150 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Gout, Stomatitis, Chronic pancreatitis |
OMIM:232240 |
Marburg Hemorrhagic Fever |
|
Uveitis, Skin rash, Increased circulating antibody level, Orchitis, Pancreatitis, Arthritis, Macu... |
ORPHA:99826 |
22Q11.2 Deletion Syndrome |
|
Multiple suture craniosynostosis, Impaired T cell function, Autoimmunity, Joint hypermobility, Se... |
ORPHA:567 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Arthritis, Joint hypermobility |
ORPHA:93111 |
Neonatal Marfan Syndrome |
|
Emphysema |
ORPHA:284979 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Osteoarthritis |
OMIM:619714 |
Meier-Gorlin Syndrome 1 |
|
Emphysema |
OMIM:224690 |
Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper... |
ORPHA:284984 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis |
ORPHA:365 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout |
OMIM:300661 |
Hunter-Macdonald Syndrome |
|
Joint contracture of the hand, Delayed cranial suture closure, Premature osteoarthritis, Cubitus ... |
OMIM:611962 |
Osteogenesis Imperfecta |
|
Osteopenia, Fractures of the long bones, Genu valgum, Reduced bone mineral density, Increased sus... |
ORPHA:666 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Emphysema, Abnormal pulmonary interstitial morphology |
OMIM:613658 |
Sarcoidosis |
|
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal lung... |
ORPHA:797 |
Autosomal Dominant Cutis Laxa |
|
Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis |
ORPHA:90348 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger |
ORPHA:217093 |
Marfan Syndrome |
|
Emphysema, Pneumothorax, Pulmonary artery dilatation |
OMIM:154700 |
Fabry Disease |
|
Reduced bone mineral density, Arthritis |
ORPHA:324 |
Gaisböck Syndrome |
|
Gout, Cholecystitis |
ORPHA:90041 |
Stickler Syndrome |
|
Joint dislocation, Genu valgum, Joint hypermobility, Osteoarthritis, Chronic otitis media, Reduce... |
ORPHA:828 |
Chronic Graft Versus Host Disease |
|
Urinary bladder inflammation, Fasciitis, Keratoconjunctivitis sicca, Arthritis, Flexion contractu... |
ORPHA:99921 |
Tetrasomy 9P |
|
Joint dislocation, Systemic lupus erythematosus, Glue ear, Myositis, Arthritis, Pericarditis |
ORPHA:3310 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Shoulder dislocation, Joint swelling, Generalized joint hypermobility, Phalangeal dis... |
ORPHA:287 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation |
OMIM:614437 |
Marfan Syndrome |
|
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation |
ORPHA:558 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Osteomyelitis, Abnormality... |
ORPHA:642 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Camptodactyly of finger, Recurrent otitis media, Joint hypermobility, Synovitis, Wide... |
ORPHA:3455 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of joint mobility, Limited wrist movement, Limited hip movement, Joint stiffness, Limi... |
ORPHA:740 |
Loeys-Dietz Syndrome 3 |
|
Osteopenia, Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Join... |
OMIM:613795 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Chondrocalcinosis, Gout, Hashimoto thyroiditis |
ORPHA:358 |
Hypermobile Ehlers-Danlos Syndrome |
|
Limitation of joint mobility, Elbow dislocation, Joint dislocation, Osteolysis, Abnormality of th... |
ORPHA:285 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Emphysema, Unilateral lung agenesis, Simplified gyral pattern, Polymicrogyria |
ORPHA:500150 |
Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr... |
ORPHA:580 |
Noonan Syndrome 1 |
|
Synovitis, Cubitus valgus |
OMIM:163950 |
Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis, Keratoconjunctivitis sicca, Arthritis |
ORPHA:2363 |
Acromegaly |
|
Acne, Joint swelling, Osteoarthritis |
ORPHA:963 |
Renal Cysts And Diabetes Syndrome |
|
Gout |
OMIM:137920 |
Aspartylglucosaminuria |
|
Joint stiffness, Chronic otitis media, Arthritis |
ORPHA:93 |
Ramon Syndrome |
|
Juvenile rheumatoid arthritis |
OMIM:266270 |
Proteus Syndrome |
|
Pulmonary cyst, Bronchogenic cyst, Abnormal lung lobation, Pulmonary bulla, Gray matter heterotop... |
ORPHA:744 |
Somatomammotropinoma |
|
Joint swelling, Osteoarthritis |
ORPHA:314769 |
Digeorge Syndrome |
|
Recurrent pneumonia, Recurrent sinusitis, Atelectasis |
OMIM:188400 |
Choreoacanthocytosis |
|
Arthritis |
ORPHA:2388 |
Viss Syndrome |
|
Emphysema, Pulmonary artery aneurysm, Pneumothorax |
OMIM:619472 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Periodontitis, Joint dislocation, Joint hypermobility, Osteoarthritis... |
ORPHA:286 |
Sotos Syndrome |
|
Pulmonary bleb, Small cell lung carcinoma |
ORPHA:821 |