| Genochondromatosis Type 1 |
|
Multiple enchondromatosis, Abnormality of the knee |
ORPHA:85197 |
| Chondrocalcinosis 2 |
|
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis |
OMIM:118600 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... |
OMIM:607850 |
| Familial Calcium Pyrophosphate Deposition |
|
Chondrocalcinosis, Joint swelling, Osteoarthritis, Arthritis, Joint dislocation, Calcification of... |
ORPHA:1416 |
| Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
| Kienbock Disease |
|
Osteochondritis dissecans, Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility |
ORPHA:97332 |
| Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
| Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Joint dislocation |
ORPHA:2380 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Delayed ossification of carpal bones, Hyperextensibility of the finger joints... |
OMIM:105835 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteoarthritis of the elbow, Knee osteoarthritis, Joint subluxation, Stiff shoulders, Abnormality... |
ORPHA:2619 |
| Osteochondrosis Of The Tarsal Bone |
|
Chondritis, Osteochondritis dissecans, Abnormal tarsal ossification, Arthritis, Tarsal sclerosis,... |
ORPHA:563991 |
| Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
| Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
| Metachondromatosis |
|
Abnormal joint morphology, Multiple enchondromatosis |
OMIM:156250 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Enlarged joints, Synovitis |
ORPHA:50809 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
| Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint hypermobility, Osteoarthritis, Joint laxity, Joint dislocation |
OMIM:130020 |
| Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Arth... |
ORPHA:566943 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Joint stiffness, Heberden's node |
OMIM:604864 |
| Dysspondyloenchondromatosis |
|
Generalized joint laxity, Osteoarthritis, Joint dislocation, Multiple enchondromatosis, Enlarged ... |
ORPHA:85198 |
| Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
| Peripheral Dysostosis |
|
Osteoarthritis, Joint stiffness |
ORPHA:1795 |
| Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Chondritis, Osteochondrosis, Progressive joint destructi... |
ORPHA:564003 |
| Familial Avascular Necrosis Of Femoral Head |
|
Limited hip movement, Hip osteoarthritis |
ORPHA:86820 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis |
ORPHA:2206 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Synovitis, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids |
OMIM:609655 |
| Epiphyseal Dysplasia, Multiple, 3 |
|
Limited elbow extension, Abnormal hip joint morphology, Osteoarthritis, Delayed epiphyseal ossifi... |
OMIM:600969 |
| Beukes Hip Dysplasia |
|
Shallow acetabular fossae, Osteoarthritis |
OMIM:142669 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Knee joint hypermobility, Finger joint hypermobility, Joint stiffness, Genu varum, Osteoarthritis... |
ORPHA:93308 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Joint swelling, Abnormality of the knee, Osteoarthritis, Arthritis, Eczema |
ORPHA:1525 |
| Hip Dysplasia, Beukes Type |
|
Abnormal bone ossification, Osteoarthritis, Abnormality of bone mineral density, Abnormal ossific... |
ORPHA:2114 |
| Complement Component C1R/C1S Deficiency |
|
Nephritis, Discoid lupus rash, Arthritis |
OMIM:216950 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Joint subluxation, Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finge... |
OMIM:130060 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Generalized morning stiffness, Arthropathy, Arthritis, Congenital finger flexion contractures, Wr... |
OMIM:208250 |
| Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormal patella morphology, Genu varum, Abnormality of the knee, Abnormality of the epiphyses of... |
ORPHA:166002 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Osteochondritis dissecans, Hip osteoarthritis, Premature osteoarthritis |
OMIM:165800 |
| Pseudoachondroplasia |
|
Limited elbow extension, Knee joint hypermobility, Distal joint laxity, Generalized joint laxity,... |
ORPHA:750 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Osteoarthritis, Abnormality of the knee |
OMIM:614135 |
| Progressive Osseous Heteroplasia |
|
Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility |
ORPHA:2762 |
| Larsen-Like Syndrome, Lethal Type |
|
Multiple joint dislocation, Tracheomalacia, Abnormal cartilage matrix, Joint dislocation |
OMIM:245650 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
| Paget Disease Of Bone 6 |
|
Osteoarthritis, Recurrent fractures |
OMIM:616833 |
| Multiple Enchondromatosis, Maffucci Type |
|
Multiple enchondromatosis, Pathologic fracture |
OMIM:614569 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Joint stiffness, Genu varum, Abnormal hip joint morphology, Intervertebral disc degeneration, Del... |
ORPHA:93311 |
| Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility |
ORPHA:63442 |
| Dysplasia Epiphysealis Hemimelica |
|
Joint stiffness, Genu varum, Osteoarthritis, Recurrent fractures, Tarsal synostosis, Genu valgum |
ORPHA:1822 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Generalized joint laxity, Joint stiffness, Delayed epiphyseal ossification, Hip osteoarthritis, L... |
OMIM:132400 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Delayed tarsal ossification, Delayed ossification of carpal bones, Genu valgum, Premature osteoar... |
OMIM:607078 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the knee, Protrusio acetabuli, Hip subluxation, Hip contracture, Limited hip movem... |
ORPHA:99642 |
| Hypochondroplasia |
|
Joint hyperflexibility, Abnormality of the elbow, Osteoarthritis, Genu varum |
ORPHA:429 |
| Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Joint swelling, Joint stiffness, Genu varum, Arthropathy, Osteoporosis, ... |
OMIM:208230 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis |
OMIM:618618 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... |
OMIM:166600 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Joint stiffness |
ORPHA:1345 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Arthritis |
ORPHA:1937 |
| Hemophilia A |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306700 |
| Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Osteoarthritis, Joint dislocation, Arthritis, Osteomyelitis, Recurren... |
ORPHA:53 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Joint stiffness, Joint swelling, Enthesitis, Abnormal hip jo... |
ORPHA:85408 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Osteochondritis dissecans, Knee osteoarthritis, Flattened knee epiphyses, Genu varum |
OMIM:600204 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal joint morphology, Osteoporosis, Synostosis of carpal bones, Osteoarthritis, Limitation o... |
ORPHA:93351 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Oligoarthritis, Inflammation of the large intestine, Enthesitis, Psoriasiform dermatitis, Anterio... |
OMIM:106300 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis |
ORPHA:166100 |
| Mucopolysaccharidosis, Type Ix |
|
Chondrocalcinosis, Popliteal synovial cyst, Finger joint hypermobility, Hyperextensibility at wri... |
OMIM:601492 |
| Hemophilia B |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Reduced bone mineral density, Polyarticular arthritis, Joint swelling, Progressive joint destruct... |
ORPHA:85435 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteoarthritis, Septic arthritis, Osteomyelitis, Recurrent fractures, Painless fract... |
OMIM:608654 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Increased bone mineral density, Stiff knee, Increased inflammatory response,... |
ORPHA:93284 |
| Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Arthritis, Limitation of joint mobility, Flexio... |
ORPHA:231 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Arthritis |
OMIM:617772 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Genu valgum, Osteoarthritis, Capitate-hamate fusion |
OMIM:271650 |
| Ulnar Hemimelia |
|
Limited elbow extension, Abnormal calcification of the carpal bones, Abnormality of the humerouln... |
ORPHA:93320 |
| Neuronopathy, Distal Hereditary Motor, Type X |
|
Joint hypermobility, Bronchiectasis, Osteoarthritis |
OMIM:620080 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Joint stiffness, Abnormal hip joint morphology, Osteoarthritis, Abnormal acetabulum morphology, D... |
ORPHA:166011 |
| Juvenile Idiopathic Arthritis |
|
Abnormal joint morphology, Joint stiffness, Joint swelling, Skin rash, Uveitis, Joint dislocation... |
ORPHA:92 |
| Alkaptonuria |
|
Reduced bone mineral density, Joint stiffness, Joint swelling, Osteoarthritis, Joint dislocation,... |
ORPHA:56 |
| Stickler Syndrome Type 1 |
|
Osteoarthritis, Joint hyperflexibility |
ORPHA:90653 |
| Multicentric Reticulohistiocytosis |
|
Arthritis |
ORPHA:139436 |
| Bullous Impetigo |
|
Septic arthritis, Recurrent bacterial skin infections, Pustule |
ORPHA:36237 |
| Dermatoosteolysis, Kirghizian Type |
|
Osteolysis, Abnormality of the wrist, Osteoarthritis, Keratitis, Tarsal synostosis |
ORPHA:1657 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Knee flexion contracture, Sterile arthritis, Colitis, Arthritis, Acne, Elbow flexion... |
OMIM:604416 |
| Hemochromatosis, Type 4 |
|
Osteoarthritis |
OMIM:606069 |
| Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
| Ollier Disease |
|
Multiple enchondromatosis, Abnormal cartilage morphology, Osteolysis, Joint stiffness |
ORPHA:296 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Enthesitis, Abnormal hip joint morphology, Abnormality of th... |
ORPHA:85438 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Knee osteoarthritis, Camptodactyly of toe, Camptodactyly of finger, ... |
ORPHA:2848 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Limitation of joint mobility, Arthritis |
ORPHA:2582 |
| Laron Syndrome |
|
Abnormality of the elbow, Osteoarthritis |
ORPHA:633 |
| Desbuquois Dysplasia 1 |
|
Genu varum, Flat acetabular roof, Osteoporosis, Advanced ossification of carpal bones, Advanced t... |
OMIM:251450 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Hip dislocation, Generalized joint laxity, Genu varum, Laryngotracheomalacia, Abnormally shaped c... |
ORPHA:93360 |
| Pseudoachondroplasia |
|
Limited elbow extension, Ulnar deviation of the wrist, Genu varum, Limited shoulder movement, Gen... |
OMIM:177170 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility at elbow, Osteoarthritis, Joint dislocation, Hyperextensibility of the knee, J... |
OMIM:130000 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
| Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Arthritis, Purulent rhinitis, Pneumonia, Conjunctivitis, Otitis media |
OMIM:601457 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hip dislocation, Generalized joint laxity, Osteoporosis, Osteoarthritis, Shoulder dislocation, Os... |
OMIM:618000 |
| Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoporosis, Osteoarthritis |
ORPHA:77296 |
| Melioidosis |
|
Osteoarthritis, Parotitis, Hepatitis, Septic arthritis, Foot osteomyelitis, Cutaneous abscess, Pn... |
ORPHA:31202 |
| Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerulonephritis, Skin rash, Arthritis, Synovitis, Serositis |
ORPHA:567544 |
| Papa Syndrome |
|
Increased inflammatory response, Pustule, Arthritis, Acne, Limitation of joint mobility, Crohn's ... |
ORPHA:69126 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, Joint hypermobility, Abnormal... |
ORPHA:85410 |
| Melorheostosis |
|
Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness, Arthritis |
ORPHA:2485 |
| Farber Lipogranulomatosis |
|
Ulnar deviation of the wrist, Osteolysis involving bones of the feet, Joint swelling, Arthritis, ... |
OMIM:228000 |
| Loeys-Dietz Syndrome 6 |
|
Knee osteoarthritis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
| Stickler Syndrome, Type I |
|
Joint stiffness, Arthropathy, Osteoarthritis, Arthritis, Joint hypermobility |
OMIM:108300 |
| Sydenham Chorea |
|
Septic arthritis, Endocarditis |
ORPHA:306731 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Arthritis, Recurrent sinusitis |
OMIM:300310 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormal joint morphology, Osteoarthritis, Enlarged joints, Limitation of joint mobility, Abnorma... |
ORPHA:1427 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Osteoarthritis, Genu varum |
OMIM:602111 |
| Moderate Hemophilia A |
|
Joint swelling, Arthropathy, Joint hemorrhage, Cartilage destruction, Hip contracture, Limitation... |
ORPHA:169805 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Pericarditis, Arthritis |
OMIM:609939 |
| Adult-Onset Still Disease |
|
Myocarditis, Joint swelling, Skin rash, Arthritis, Hepatitis, Cartilage destruction, Pericarditis |
ORPHA:829 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Osteoarthritis, Osteomalacia, Hypophosphatemic rickets, Genu valgum |
OMIM:307800 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Genu varum |
ORPHA:93356 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Genu varum, Flat acetabular roof, Abnormal enchondral ossification, Delayed epiphyseal ossificati... |
ORPHA:93314 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Nasal chondritis, Arthritis, Arteritis, Neutrophilic infilt... |
OMIM:301054 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality ... |
ORPHA:229717 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Arthritis, Erythema nodosum, Skin rash |
OMIM:611762 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Joint stiffness, Metatarsal synostosis, Premature osteoarthritis, Dislocation of the femoral head... |
ORPHA:93307 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Recurrent pneumonia, Flexion contracture, Enlarged joints, Premature osteoarthritis |
OMIM:215150 |
| Alkaptonuria |
|
Vertebral fusion, Arthropathy, Limited shoulder movement, Arthritis, Limitation of knee mobility,... |
OMIM:203500 |
| Systemic Lupus Erythematosus |
|
Malar rash, Lupus nephritis, Arthritis, Nephritis, Pericarditis |
OMIM:152700 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Joint stiffness, Joint swelling, Enthesitis, Recurrent aphth... |
ORPHA:29207 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, Skin rash, Arthritis, Hepatitis, Sinusitis, Recurrent skin infections, Bron... |
ORPHA:33110 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Craniofacial osteosclerosis, Osteolysis, Inflammation of the large intestine, Skin rash, Abnormal... |
ORPHA:324964 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Uveitis, Conjunctivitis, Arthritis, Skin rash |
OMIM:120100 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
| Felty Syndrome |
|
Chronic otitis media, Abnormal joint morphology, Osteolysis, Arthritis, Episcleritis, Sinusitis, ... |
ORPHA:47612 |
| Lesch-Nyhan Syndrome |
|
Gout |
ORPHA:510 |
| Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteolysis, Pathologic fracture, Osteoarthritis, Osteopenia |
ORPHA:77259 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
| Pfapa Syndrome |
|
Infectious encephalitis, Arthritis |
ORPHA:42642 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis |
OMIM:616414 |
| Idiopathic Camptocormia |
|
Abnormal inflammatory response, Myelitis, Myositis, Osteoarthritis |
ORPHA:1320 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
| Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Arthritis |
ORPHA:85446 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Arthritis, Wrist swelling, Infectious encephalitis, Ankle swe... |
ORPHA:448237 |
| Sapho Syndrome |
|
Craniofacial osteosclerosis, Osteolysis, Inflammation of the large intestine, Enthesitis, Skin ra... |
ORPHA:793 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Arthritis, Skin rash |
ORPHA:37748 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteoarthritis, Osteopenia, Ivory epiphyses of the distal phalanges of the hand |
OMIM:190350 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Delayed epiphyseal ossification, Joint laxity, Premature osteoarthritis, Generalized ... |
ORPHA:93352 |
| Kniest Dysplasia |
|
Tracheomalacia, Hip dislocation, Genu varum, Abnormal cartilage collagen, Delayed epiphyseal ossi... |
OMIM:156550 |
| Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
| Hemochromatosis, Type 2A |
|
Arthritis |
OMIM:602390 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Malar rash, Polyarticular arthritis, Oligoarthritis, Generalized morning stiffness, Abnormality o... |
ORPHA:85436 |
| Eosinophilic Fasciitis |
|
Myositis, Arthritis, Fasciitis |
ORPHA:3165 |
| Cinca Syndrome |
|
Patellar overgrowth, Uveitis, Arthritis, Skin rash |
OMIM:607115 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, Pericarditis |
OMIM:617321 |
| Marshall Syndrome |
|
Genu valgum, Osteoarthritis |
ORPHA:560 |
| Familial Cold Urticaria |
|
Conjunctivitis, Arthritis |
ORPHA:47045 |
| Familial Mediterranean Fever |
|
Peritonitis, Orchitis, Skin rash, Erysipelas, Pancreatitis, Osteoarthritis, Arthritis, Pericarditis |
ORPHA:342 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Arthropathy, Osteoporosis, Wormian bones, Osteopenia, Osteolytic defects o... |
OMIM:259100 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Hepatitis, Sin... |
ORPHA:47 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Oligoarthritis, Maculopapular exanthema, Polyarticular arthritis, Skin rash, Erysipelas, Myositis... |
OMIM:142680 |
| Brucellosis |
|
Myocarditis, Knee osteoarthritis, Pericarditis, Glomerulonephritis, Orchitis, Endocarditis, Arthr... |
ORPHA:1304 |
| Graft Versus Host Disease |
|
Gastrointestinal inflammation, Acute hepatitis, Inflammatory abnormality of the skin, Maculopapul... |
ORPHA:39812 |
| Nail-Patella Syndrome |
|
Patellar dislocation, Achilles tendon contracture, Patellar aplasia, Proximal finger joint hypere... |
ORPHA:2614 |
| Rat-Bite Fever |
|
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Skin rash,... |
ORPHA:31205 |
| Blau Syndrome |
|
Camptodactyly of finger, Joint swelling, Flexion contracture of toe, Uveitis, Arthritis, Iritis, ... |
OMIM:186580 |
| Aneurysm-Osteoarthritis Syndrome |
|
Craniosynostosis, Knee osteoarthritis, Camptodactyly of finger, Osteochondritis dissecans, Osteop... |
ORPHA:284984 |
| Hemochromatosis, Type 3 |
|
Arthritis |
OMIM:604250 |
| Psoriasis 14, Pustular |
|
Cholangitis, Oligoarthritis, Polyarticular arthritis, Psoriasiform dermatitis, Pustule |
OMIM:614204 |
| Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Rheumatoid arthritis |
OMIM:270150 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteolysis, Sclerotic cranial sutures, Arthropathy, Osteoporosis, Osteolysis involving bones of t... |
ORPHA:371428 |
| Lyme Disease |
|
Infectious encephalitis, Uveitis, Joint swelling, Arthritis |
ORPHA:91546 |
| Loeys-Dietz Syndrome 5 |
|
Flexion contracture of toe, Osteoarthritis, Congenital finger flexion contractures, Joint hypermo... |
OMIM:615582 |
| Alpha-Mannosidosis |
|
Chronic otitis media, Synostosis of joints, Arthritis |
ORPHA:61 |
| Muckle-Wells Syndrome |
|
Camptodactyly of finger, Skin rash, Recurrent aphthous stomatitis, Uveitis, Arthritis, Episclerit... |
ORPHA:575 |
| Immunodeficiency 68 |
|
Septic arthritis, Recurrent skin infections, Lymphadenitis |
OMIM:612260 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Septic arthritis, Osteomyelitis, Arthritis |
OMIM:619423 |
| Non Rare In Europe: Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Arthritis, Recurrent fractures, Fl... |
ORPHA:1306 |
| Anti-Glomerular Basement Membrane Disease |
|
Arthritis |
ORPHA:375 |
| Kniest Dysplasia |
|
Abnormal joint morphology, Anterior vertebral fusion, Joint stiffness, Laryngotracheomalacia, Art... |
ORPHA:485 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Arthritis, Atrophic gastritis, Bronchiectasis, Psoriasiform dermatitis, Crohn's disease, Eczema |
OMIM:616100 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
| Scedosporiosis |
|
Endocarditis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pneumonia, Osteomyelitis, Perica... |
ORPHA:449280 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent otitis media, Membranous nephropathy, Arthritis, Recurrent sinusitis |
OMIM:615559 |
| Atelosteogenesis, Type Ii |
|
Flat acetabular roof, Lacunar halos around chondrocytes |
OMIM:256050 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Cervical subluxation, Arthritis |
OMIM:184100 |
| Wilson Disease |
|
Chondrocalcinosis, Atypical or prolonged hepatitis, Osteoporosis, Osteoarthritis, Osteomalacia, J... |
OMIM:277900 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout |
OMIM:618061 |
| Gaucher Disease |
|
Increased bone mineral density, Osteolysis, Joint stiffness, Osteoarthritis, Joint dislocation, O... |
ORPHA:355 |
| Takayasu Arteritis |
|
Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis |
ORPHA:3287 |
| Complement Factor I Deficiency |
|
Glomerulonephritis, Pyelonephritis, Recurrent otitis media, Recurrent skin infections, Septic art... |
OMIM:610984 |
| Majeed Syndrome |
|
Increased bone mineral density, Inflammatory abnormality of the skin, Pustule, Acne, Increased su... |
ORPHA:77297 |
| Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia, Osteopenia |
OMIM:613328 |
| Hypocomplementemic Urticarial Vasculitis |
|
Skin rash, Uveitis, Joint dislocation, Arthritis, Episcleritis, Inflammatory abnormality of the e... |
ORPHA:36412 |
| Relapsing Polychondritis |
|
Myocarditis, Keratitis, Chondritis, Recurrent aphthous stomatitis, Scleritis, Uveitis, Arthritis,... |
ORPHA:728 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Eczema, Recurrent pneumonia |
OMIM:617780 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Uveitis, Colitis, Arthritis, Recurrent otitis media, Recurre... |
OMIM:614700 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Sinusitis, Recurrent otitis media, Infectious encephalitis, Septic arthrit... |
OMIM:307200 |
| Insulin-Resistance Syndrome Type B |
|
Pneumonia, Nephritis, Osteoarthritis, Skin rash |
ORPHA:2298 |
| Rheumatoid Arthritis |
|
Polyarticular arthritis, Joint stiffness, Rheumatoid arthritis, Joint swelling |
OMIM:180300 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Osteolysis, Joint swelling, Joint stiffness, Skin rash, Keratoconjunctivitis sicca, ... |
ORPHA:809 |
| Severe Hemophilia A |
|
Joint swelling, Progressive joint destruction, Joint hemorrhage, Limitation of joint mobility, Sy... |
ORPHA:169802 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal cartilage morphology, Abnormal cartilage matrix |
ORPHA:2347 |
| Microscopic Polyangiitis |
|
Peritonitis, Skin rash, Pancreatitis, Uveitis, Arthritis, Episcleritis, Sinusitis, Increased infl... |
ORPHA:727 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout |
OMIM:617056 |
| Hunter-Macdonald Syndrome |
|
Camptodactyly, Delayed cranial suture closure, Cubitus valgus, Joint contracture of the hand, Pre... |
OMIM:611962 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Chronic sinusitis, Atopic dermatitis, Skin rash, Arthritis, Recurrent otitis media, ... |
ORPHA:183675 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis |
OMIM:619825 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Osteoporosis, Dislocated radial head, Osteoarthritis, Osteopenia, Wormian bo... |
ORPHA:666 |
| Keutel Syndrome |
|
Recurrent otitis media, Calcification of cartilage, Recurrent sinusitis |
ORPHA:85202 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Glomerulonephritis, Skin rash, Myositis, Arthritis, Hepatitis, Sinusiti... |
ORPHA:36234 |
| Wilson Disease |
|
Acute hepatitis, Joint swelling, Pathologic fracture, Arthritis, Hepatitis |
ORPHA:905 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Skin rash, Myositis, Arthritis, Sinusitis, Flexion contracture, Conjunctivitis, Panniculitis |
OMIM:617591 |
| Autoimmune Hepatitis |
|
Acute hepatitis, Glomerulonephritis, Inflammation of the large intestine, Viral hepatitis, Fulmin... |
ORPHA:2137 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Osteoarthritis |
OMIM:619714 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent pneumonia, Pneumonia, Esophagitis, Calcification of cartilage |
ORPHA:3348 |
| Stickler Syndrome |
|
Chronic otitis media, Reduced bone mineral density, Hip dislocation, Uveitis, Osteoarthritis, Joi... |
ORPHA:828 |
| Rheumatic Fever |
|
Myocarditis, Endocarditis, Arthritis, Sinusitis, Pericarditis |
ORPHA:3099 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Arthritis |
ORPHA:411543 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Recurrent aphthous stomatitis, Limitation of joint mobility, Arthritis |
ORPHA:343 |
| Behcet Syndrome |
|
Erythema nodosum, Arthritis, Iritis, Iridocyclitis, Epididymitis |
OMIM:109650 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Arthritis, Hepatitis, Eczema, Erythroderma |
OMIM:304790 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Osteolysis, Hip dislocation, Keratoconjunctivitis sicca, Abnormality of the wrist, Osteoarthritis... |
ORPHA:285 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Joint stiffness, Joint swelling, Stiff interphalangeal joints, Arthropathy, Osteoporosis, Arthritis |
ORPHA:465508 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Arthrogryposis multiplex congenita, Abnormal cartilage matrix, Epiphyseal stippling |
ORPHA:86822 |
| Reynolds Syndrome |
|
Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis, Skin rash |
ORPHA:779 |
| Loeys-Dietz Syndrome 3 |
|
Craniosynostosis, Knee osteoarthritis, Camptodactyly, Osteochondritis dissecans, Osteoarthritis, ... |
OMIM:613795 |
| Pachydermoperiostosis |
|
Eczematoid dermatitis, Osteolysis, Joint swelling, Genu varum, Osteoporosis, Arthritis, Acne, Seb... |
ORPHA:2796 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
| Classical Ehlers-Danlos Syndrome |
|
Hip dislocation, Generalized joint laxity, Joint swelling, Dislocated radial head, Osteoarthritis... |
ORPHA:287 |
| Fusariosis |
|
Peritonitis, Maculopapular exanthema, Myositis, Arthritis, Fasciitis, Sinusitis, Bronchiectasis, ... |
ORPHA:228119 |
| Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, Erythroderma |
OMIM:619510 |
| Multiple Osteochondromas |
|
Femoroacetabular impingement, Abnormality of the knee, Arthritis, Limitation of knee mobility, Ab... |
ORPHA:321 |
| Medullary cystic kidney disease 2 |
|
Gout, Tubulointerstitial nephritis |
OMIM:603860 |
| Kid Syndrome |
|
Acne inversa, Recurrent cutaneous abscess formation, Keratitis, Recurrent bacterial skin infectio... |
ORPHA:477 |
| Hereditary Xanthinuria |
|
Arthropathy, Gout, Rheumatoid arthritis |
ORPHA:3467 |
| Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Viral hepatitis, Arthritis |
ORPHA:91138 |
| Marfan Syndrome |
|
Limited elbow extension, Camptodactyly, Genu recurvatum, Protrusio acetabuli, Joint hypermobility... |
OMIM:154700 |
| Adiposis Dolorosa |
|
Recurrent skin infections, Arthritis |
ORPHA:36397 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis |
ORPHA:48104 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Tubulointerstitial nephritis, Endocarditis, Skin rash, Myositis, Arthritis, Sinusiti... |
ORPHA:183 |
| Hutchinson-Gilford Progeria Syndrome |
|
Reduced bone mineral density, Hip dislocation, Osteolytic defects of the distal phalanges of the ... |
ORPHA:740 |
| Chikungunya |
|
Osteolysis, Maculopapular exanthema, Joint swelling, Joint stiffness, Stiff interphalangeal joint... |
ORPHA:324625 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
| Farber Disease |
|
Joint swelling, Abnormality of the knee, Osteoporosis, Abnormality of the elbow, Abnormality of t... |
ORPHA:333 |
| Dowling-Degos Disease |
|
Acne inversa, Arthritis |
ORPHA:79145 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Peritonitis, Orchitis, Skin rash, Erysipelas, Uveitis, Myositis, Abnormal sacroiliac joint morpho... |
ORPHA:32960 |
| Pediatric Systemic Lupus Erythematosus |
|
Malar rash, Skin rash, Arthritis, Discoid lupus rash, Nephritis, Myositis |
ORPHA:93552 |
| Scleroderma |
|
Myocarditis, Keratitis, Uveitis, Arthritis, Osteolytic defects of the phalanges of the hand, Epis... |
ORPHA:801 |
| Whipple Disease |
|
Myocarditis, Uveitis, Arthritis, Infectious encephalitis, Myositis, Pericarditis |
ORPHA:3452 |
| Polymyositis |
|
Chondrocalcinosis, Pericarditis, Arthritis |
ORPHA:732 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal epiphyseal ossification, Flexion contracture of digit, Limitation of joint mobility, Hip... |
ORPHA:580 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Osteolysis, Arthritis |
ORPHA:220393 |
| Overlap Myositis |
|
Subluxation of the small joints of the hand, Arthritis, Rheumatoid arthritis |
ORPHA:206572 |
| Acromegaly |
|
Acne, Osteoarthritis, Joint swelling |
ORPHA:963 |
| Localized Scleroderma |
|
Hashimoto thyroiditis, Uveitis, Sclerosis of finger phalanx, Arthritis, Esophagitis, Flexion cont... |
ORPHA:90289 |
| Glycogen Storage Disease Vii |
|
Gout |
OMIM:232800 |
| Somatomammotropinoma |
|
Osteoarthritis, Joint swelling |
ORPHA:314769 |
| X-Linked Hypophosphatemia |
|
Rickets, Craniosynostosis, Reduced bone mineral density, Generalized osteosclerosis, Genu varum, ... |
ORPHA:89936 |
| Spondyloenchondrodysplasia |
|
Skin rash, Juvenile rheumatoid arthritis, Arthritis, Hepatitis, Pneumonia |
ORPHA:1855 |
| Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis |
ORPHA:92050 |
| Sweet Syndrome |
|
Acne inversa, Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, ... |
ORPHA:3243 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology, Osteolysis, Osteochondrosis |
ORPHA:2396 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Recurrent otitis media, Recurrent pneumonia, Infectious encephalitis, Sept... |
OMIM:300755 |
| Shigellosis |
|
Peritonitis, Myocarditis, Acute colitis, Uveitis, Ulcerative colitis, Arthritis, Pneumonia, Conju... |
ORPHA:810 |
| Systemic Sclerosis |
|
Myocarditis, Glomerulonephritis, Joint swelling, Arthritis, Osteolytic defects of the phalanges o... |
ORPHA:90291 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Skin rash, Colitis, Arthritis, Esophagitis, Chronic gastriti... |
OMIM:301074 |
| Lymphatic Filariasis |
|
Knee osteoarthritis, Glomerulonephritis, Orchitis, Lymphadenitis, Ankle swelling, Epididymitis |
ORPHA:2035 |
| Familial Mediterranean Fever |
|
Peritonitis, Orchitis, Erysipelas, Arthritis, Crohn's disease, Pericarditis |
OMIM:249100 |
| Giant Cell Arteritis |
|
Pericarditis, Joint stiffness, Arthritis |
ORPHA:397 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Arthritis |
ORPHA:464343 |
| Simple Cryoglobulinemia |
|
Arthritis, Membranoproliferative glomerulonephritis, Nephritis, Pericarditis, Viral hepatitis |
ORPHA:91139 |
| Marshall Syndrome |
|
Knee osteoarthritis, Recurrent otitis media |
OMIM:154780 |
| Hyper-Igd Syndrome |
|
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Serositis |
OMIM:260920 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Arthritis, Chronic oral candidiasis, Psoriasiform dermatitis, Recurrent aspiration pn... |
ORPHA:221139 |
| Listeriosis |
|
Peritonitis, Myocarditis, Stiff neck, Endocarditis, Pyelonephritis, Pustule, Infectious encephali... |
ORPHA:533 |
| Coccidioidomycosis |
|
Peritonitis, Morbilliform rash, Osteolysis, Skin rash, Pancreatitis, Arthritis, Pneumonia, Osteom... |
ORPHA:228123 |
| Juvenile Dermatomyositis |
|
Skin rash, Arthritis, Limitation of joint mobility, Myositis, Pericarditis |
ORPHA:93672 |
| Congenital Tricuspid Stenosis |
|
Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
| Behçet Disease |
|
Optic neuritis, Orchitis, Endocarditis, Recurrent aphthous stomatitis, Pancreatitis, Keratoconjun... |
ORPHA:117 |
| Riddle Syndrome |
|
Chronic sinusitis, Arthritis, Recurrent pneumonia, Pneumonia, Otitis media, Recurrent sinusitis |
ORPHA:420741 |
| Immunoglobulin A Vasculitis |
|
Orchitis, Skin rash, Arthritis, Episcleritis, Infectious encephalitis, Pustule |
ORPHA:761 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hashimoto thyroiditis, Skin rash, Arthritis, Recurrent otitis media, Panniculitis, Eczema, Erythe... |
OMIM:615688 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Joint swelling, Skin rash, Colitis, Arthritis, Osteomalacia, Gastritis, Hepatitis, Recurrent otit... |
OMIM:619381 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Inflammatory abnormality of the skin, Joint swelling, Chronic hepatitis, Pancreatiti... |
ORPHA:3260 |
| Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Keratitis, Inflammation of the large intestine, Blepharitis, Arthritis, Sin... |
ORPHA:906 |
| Primary Sjögren Syndrome |
|
Glomerulonephritis, Optic neuritis, Chronic active hepatitis, Chronic hepatitis, Tubulointerstiti... |
ORPHA:289390 |
| Postinfectious Vasculitis |
|
Gastrointestinal inflammation, Glomerulonephritis, Inflammatory abnormality of the skin, Orchitis... |
ORPHA:48435 |
| Kawasaki Disease |
|
Myocarditis, Skin rash, Cheilitis, Arthritis, Hepatitis, Cholecystitis, Conjunctivitis, Pericarditis |
ORPHA:2331 |
| Vascular Ehlers-Danlos Syndrome |
|
Osteolysis, Congenital hip dislocation, Osteoarthritis, Joint dislocation, Periodontitis, Joint h... |
ORPHA:286 |
| Hereditary Spherocytosis |
|
Maculopapular exanthema, Gout |
ORPHA:822 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Gout |
ORPHA:412 |
| Blau Syndrome |
|
Camptodactyly of finger, Keratitis, Polyarticular arthritis, Joint swelling, Skin rash, Posterior... |
ORPHA:90340 |
| Glycogen Storage Disease Ib |
|
Pancreatitis, Osteoporosis, Inflammation of the large intestine, Gout |
OMIM:232220 |
| Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Skin rash, Arthritis, Chilblains, Atrophic gastritis, Hepatitis, Pneumonia |
OMIM:615846 |
| Glycogen Storage Disease Ia |
|
Pancreatitis, Osteoporosis, Gout |
OMIM:232200 |
| Autoimmune Lymphoproliferative Syndrome |
|
Glomerulonephritis, Recurrent aphthous stomatitis, Uveitis, Colitis, Arthritis, Gastritis, Hepati... |
ORPHA:3261 |
| Sitosterolemia 1 |
|
Arthritis |
OMIM:210250 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Foot acroosteolysis, Arthritis, Osteolytic defects of the phalanges of the hand |
OMIM:161700 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Gout, Tubulointerstitial nephritis |
OMIM:174000 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chronic otitis media, Hip dislocation, Joint stiffness, Joint swelling, Cheilitis, Osteomalacia, ... |
ORPHA:534 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Gout, Pancreatitis, Osteoporosis, Ulcerative colitis, Osteop... |
ORPHA:79259 |
| Plague |
|
Inflammation of the large intestine, Endocarditis, Skin rash, Abnormality of the elbow, Lymphaden... |
ORPHA:707 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Joint hyperflexibility, Arthritis |
ORPHA:93111 |
| Aicardi-Goutières Syndrome |
|
Arthritis, Chilblains, Multiple joint contractures, Myositis, Panniculitis |
ORPHA:51 |
| Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis |
OMIM:232240 |
| 22Q11.2 Deletion Syndrome |
|
Chronic otitis media, Multiple suture craniosynostosis, Arthritis, Patellar dislocation, Acne, Se... |
ORPHA:567 |
| Dermatomyositis |
|
Myocarditis, Chondrocalcinosis, Pericarditis, Arthritis |
ORPHA:221 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Abnormal calcification of the carpal bones, Progressive calcification of costochondral cartilage,... |
OMIM:271665 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout |
OMIM:300661 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Uveitis, Arthritis, Bronchiectasis, Iridocyclitis |
OMIM:181000 |
| Marburg Hemorrhagic Fever |
|
Orchitis, Maculopapular exanthema, Skin rash, Pancreatitis, Uveitis, Arthritis, Pericarditis |
ORPHA:99826 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormality of lower limb joint, Neuropathic arthropathy, Septic arthritis, Recurrent aspiration ... |
ORPHA:642 |
| Fabry Disease |
|
Reduced bone mineral density, Arthritis |
ORPHA:324 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Limitation of joint mobility, Flexion contracture, Camptodactyly of finger, Arthritis |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Limitation of joint mobility, Flexion contracture, Camptodactyly of finger, Arthritis |
ORPHA:217093 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Acute colitis, Pancreatitis, Septic arthritis, Pneumonia |
ORPHA:544482 |
| Gaisböck Syndrome |
|
Cholecystitis, Gout |
ORPHA:90041 |
| Gitelman Syndrome |
|
Chondrocalcinosis, Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis |
ORPHA:358 |
| Chronic Graft Versus Host Disease |
|
Urinary bladder inflammation, Keratoconjunctivitis sicca, Arthritis, Bronchiectasis, Flexion cont... |
ORPHA:99921 |
| Tetrasomy 9P |
|
Myositis, Pericarditis, Joint dislocation, Arthritis |
ORPHA:3310 |
| Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis, Keratoconjunctivitis sicca, Arthritis |
ORPHA:2363 |
| Renal Cysts And Diabetes Syndrome |
|
Gout |
OMIM:137920 |
| Aspartylglucosaminuria |
|
Chronic otitis media, Joint stiffness, Arthritis |
ORPHA:93 |
| Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Osteopenia, Recurrent otitis media, Recurrent skin infections, Widely pa... |
ORPHA:3455 |
| Noonan Syndrome 1 |
|
Synovitis, Cubitus valgus |
OMIM:163950 |
| Choreoacanthocytosis |
|
Arthritis |
ORPHA:2388 |
