| Genochondromatosis Type 1 |
|
Abnormality of the knee, Multiple enchondromatosis |
ORPHA:85197 |
| Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... |
OMIM:607850 |
| Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci... |
ORPHA:1416 |
| Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
| Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
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, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Knee osteoarthritis, Limitation... |
ORPHA:2619 |
| Osteochondrosis Of The Tarsal Bone |
|
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... |
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 |
|
Multiple enchondromatosis, Abnormal joint morphology |
OMIM:156250 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
| Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum, Multip... |
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, Arthritis, Progressive joint destruction, Chondritis, Os... |
ORPHA:564003 |
| Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Limited hip movement |
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 |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
| Epiphyseal Dysplasia, Multiple, 3 |
|
Osteoarthritis, Delayed epiphyseal ossification, Limited elbow extension, Limited knee extension,... |
OMIM:600969 |
| Beukes Hip Dysplasia |
|
Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Delayed epiphyseal ossification,... |
ORPHA:93308 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Joint swelling, Arthritis |
ORPHA:1525 |
| Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Wrist flexion contracture, Congenital fing... |
OMIM:208250 |
| Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... |
ORPHA:166002 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans |
OMIM:165800 |
| Pseudoachondroplasia |
|
Joint laxity, Limited hip extension, Joint stiffness, Irregular carpal bones, Osteoarthritis, Dis... |
ORPHA:750 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Osteoarthritis |
OMIM:614135 |
| Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Tracheomalacia |
OMIM:245650 |
| Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue |
ORPHA:2762 |
| 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 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... |
ORPHA:93311 |
| Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility |
ORPHA:63442 |
| Dysplasia Epiphysealis Hemimelica |
|
Recurrent fractures, Tarsal synostosis, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum |
ORPHA:1822 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Limited hip movement,... |
OMIM:132400 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... |
OMIM:607078 |
| Hypochondroplasia |
|
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum |
ORPHA:429 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... |
OMIM:208230 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... |
ORPHA:99642 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Osteoarthritis, Delayed epiphyseal ossification |
OMIM:618618 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Joint stiffness |
ORPHA:1345 |
| Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
| Hemophilia A |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306700 |
| Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... |
ORPHA:53 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Flattened knee epiphyses, Knee osteoarthritis, Osteochondritis dissecans, Genu varum |
OMIM:600204 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal joint morphology, Osteoarthritis, Abnormal carpal morphology, Osteoporosis, Limitation o... |
ORPHA:93351 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion cont... |
ORPHA:85408 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis |
ORPHA:166100 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl... |
OMIM:106300 |
| Hemophilia B |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
| Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... |
OMIM:601492 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... |
ORPHA:85435 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... |
OMIM:608654 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
| Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... |
ORPHA:231 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bronchiectasis, Joint hypermobility |
OMIM:620080 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum |
OMIM:271650 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... |
ORPHA:166011 |
| Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
| Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Osteoarthritis |
ORPHA:90653 |
| Ulnar Hemimelia |
|
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... |
ORPHA:93320 |
| Multicentric Reticulohistiocytosis |
|
Arthritis |
ORPHA:139436 |
| Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist |
ORPHA:1657 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elbow flexion contracture, Sterile arthritis, Knee flexion contracture, Arthritis, Colitis,... |
OMIM:604416 |
| Hemochromatosis, Type 4 |
|
Osteoarthritis |
OMIM:606069 |
| Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
| Ollier Disease |
|
Multiple enchondromatosis, Abnormal cartilage morphology, Osteolysis, Joint stiffness |
ORPHA:296 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... |
ORPHA:2848 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Abnormality of the elbow, Enthesitis, Arth... |
ORPHA:85438 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Limitation of joint mobility |
ORPHA:2582 |
| Laron Syndrome |
|
Osteoarthritis, Abnormality of the elbow |
ORPHA:633 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Radial head subluxation, Multiple joint dislocation, Genu varum, Premature osteoart... |
ORPHA:93360 |
| Pseudoachondroplasia |
|
Joint laxity, Ulnar deviation of the wrist, Genu recurvatum, Limited hip extension, Irregular car... |
OMIM:177170 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
| Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o... |
OMIM:251450 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Acne, Osteoporosis |
ORPHA:77296 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media |
OMIM:601457 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Hip dislocation, Osteoporosis, Knee disloca... |
OMIM:618000 |
| Melioidosis |
|
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth... |
ORPHA:31202 |
| Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis |
ORPHA:567544 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi... |
ORPHA:85410 |
| Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
| Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility |
OMIM:108300 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
| Melorheostosis |
|
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness |
ORPHA:2485 |
| Sydenham Chorea |
|
Septic arthritis, Endocarditis |
ORPHA:306731 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Arthritis, Recurrent sinusitis |
OMIM:300310 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... |
ORPHA:1427 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Osteoarthritis, Limited elbow extension, Genu varum |
OMIM:602111 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
| Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
| Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Cartilage destruction, Myocarditis, Hepatitis, Joint swelling, Arthritis |
ORPHA:829 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets |
OMIM:307800 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash |
OMIM:620321 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Genu varum |
ORPHA:93356 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... |
ORPHA:229717 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis |
OMIM:611762 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia |
OMIM:215150 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Dislocation of the femoral head, Joint stiffness, Premature osteoarthritis, Elbow flexion contrac... |
ORPHA:93307 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... |
OMIM:203500 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... |
ORPHA:93314 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr... |
ORPHA:324964 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Arthrit... |
ORPHA:29207 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Conjunctivitis, Skin rash, Uveitis |
OMIM:120100 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
| Lesch-Nyhan Syndrome |
|
Gout |
ORPHA:510 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
| Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Abnormal joint morphology, Limitation of joint mobility, R... |
ORPHA:47612 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis |
OMIM:616414 |
| Pfapa Syndrome |
|
Arthritis, Infectious encephalitis |
ORPHA:42642 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis |
ORPHA:397596 |
| Idiopathic Camptocormia |
|
Abnormal inflammatory response, Osteoarthritis, Myelitis, Myositis |
ORPHA:1320 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
| Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, In... |
ORPHA:448237 |
| Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Arthritis |
ORPHA:85446 |
| Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density, Skin rash |
ORPHA:37748 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand |
OMIM:190350 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Generalized bone deminer... |
ORPHA:93352 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
| Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Tracheomalacia, Delayed epiphyseal ossification, Limitation of ... |
OMIM:156550 |
| Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
| Hemochromatosis, Type 2A |
|
Arthritis |
OMIM:602390 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
| Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Myositis |
ORPHA:3165 |
| Cinca Syndrome |
|
Skin rash, Arthritis, Patellar overgrowth, Uveitis |
OMIM:607115 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
| Marshall Syndrome |
|
Osteoarthritis, Genu valgum |
ORPHA:560 |
| Familial Cold Urticaria |
|
Arthritis, Conjunctivitis |
ORPHA:47045 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Osteopenia, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... |
OMIM:259100 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis |
ORPHA:342 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Polyarticular arthritis, Conjunctiv... |
OMIM:142680 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
| Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... |
ORPHA:1304 |
| Nail-Patella Syndrome |
|
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... |
ORPHA:2614 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Hemochromatosis, Type 3 |
|
Arthritis |
OMIM:604250 |
| Graft Versus Host Disease |
|
Dupuytren contracture, Myositis, Fasciitis, Acute hepatitis, Limited elbow movement, Maculopapula... |
ORPHA:39812 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Uveiti... |
OMIM:186580 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis |
OMIM:614204 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Osteopenia, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
| Loeys-Dietz Syndrome 5 |
|
Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture... |
OMIM:615582 |
| Lyme Disease |
|
Arthritis, Infectious encephalitis, Joint swelling, Uveitis |
ORPHA:91546 |
| Alpha-Mannosidosis |
|
Chronic otitis media, Arthritis, Synostosis of joints |
ORPHA:61 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... |
ORPHA:575 |
| Anti-Glomerular Basement Membrane Disease |
|
Arthritis |
ORPHA:375 |
| Immunodeficiency 68 |
|
Septic arthritis, Lymphadenitis, Recurrent skin infections |
OMIM:612260 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Arthritis, Osteomyelitis, Septic arthritis |
OMIM:619423 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Joint stiffness, Abnormal joint morphology, Delayed epiphyseal ossi... |
ORPHA:485 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease |
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 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent otitis media, Arthritis, Recurrent sinusitis, Membranous nephropathy |
OMIM:615559 |
| Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Septic art... |
ORPHA:449280 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Cervical subluxation |
OMIM:184100 |
| Wilson Disease |
|
Osteomalacia, Joint hypermobility, Osteoarthritis, Atypical or prolonged hepatitis, Osteoporosis,... |
OMIM:277900 |
| Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Flat acetabular roof |
OMIM:256050 |
| Takayasu Arteritis |
|
Arthritis, Increased inflammatory response, Inflammatory abnormality of the eye |
ORPHA:3287 |
| Gaucher Disease |
|
Joint dislocation, Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures... |
ORPHA:355 |
| Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
| Majeed Syndrome |
|
Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Pustul... |
ORPHA:77297 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout |
OMIM:618061 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Pneumonia |
OMIM:613328 |
| Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Inflammatory abno... |
ORPHA:36412 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... |
ORPHA:728 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Recurrent pneumonia, Eczema |
OMIM:617780 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... |
OMIM:614700 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Osteoarthritis, Nephritis, Pneumonia |
ORPHA:2298 |
| Rheumatoid Arthritis |
|
Joint swelling, Polyarticular arthritis, Rheumatoid arthritis, Joint stiffness |
OMIM:180300 |
| Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Osteolysis, Arthritis... |
ORPHA:809 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... |
ORPHA:2137 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout |
OMIM:617056 |
| Severe Hemophilia A |
|
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join... |
ORPHA:169802 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
| Hunter-Macdonald Syndrome |
|
Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c... |
OMIM:611962 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal cartilage morphology, Abnormal cartilage matrix |
ORPHA:2347 |
| Keutel Syndrome |
|
Recurrent otitis media, Recurrent sinusitis, Calcification of cartilage |
ORPHA:85202 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis |
OMIM:619825 |
| Osteogenesis Imperfecta |
|
Osteopenia, Protrusio acetabuli, Recurrent fractures, Fractures of the long bones, Osteoarthritis... |
ORPHA:666 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
| Wilson Disease |
|
Hepatitis, Arthritis, Joint swelling, Acute hepatitis, Pathologic fracture |
ORPHA:905 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Osteoarthritis |
OMIM:619714 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis |
OMIM:617591 |
| Tracheobronchopathia Osteochondroplastica |
|
Esophagitis, Recurrent pneumonia, Pneumonia, Calcification of cartilage |
ORPHA:3348 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Gout |
ORPHA:411543 |
| Stickler Syndrome |
|
Joint dislocation, Protrusio acetabuli, Osteoarthritis, Hip dislocation, Uveitis, Genu valgum, Re... |
ORPHA:828 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Peritonitis, Limitation of joint mobility, Recurrent aphthous stomatitis |
ORPHA:343 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
| Rheumatic Fever |
|
Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis |
ORPHA:3099 |
| Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal cartilage matrix |
ORPHA:86822 |
| Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
| Loeys-Dietz Syndrome 3 |
|
Joint laxity, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the esophagus, ... |
OMIM:613795 |
| Pachydermoperiostosis |
|
Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi... |
ORPHA:2796 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo... |
ORPHA:287 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Joint stiffness, Osteoporosis, Arthritis, Joint swelling, Stiff interphalangeal joints |
ORPHA:465508 |
| Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Erythroderma |
OMIM:619510 |
| Adiposis Dolorosa |
|
Arthritis, Recurrent skin infections |
ORPHA:36397 |
| Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Multiple Osteochondromas |
|
Abnormality of the knee, Abnormal cartilage morphology, Abnormal carpal morphology, Femoroacetabu... |
ORPHA:321 |
| Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma |
ORPHA:247353 |
| Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
| Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
| Cryoglobulinemic Vasculitis |
|
Arthritis, Keratoconjunctivitis sicca, Viral hepatitis |
ORPHA:91138 |
| Dowling-Degos Disease |
|
Arthritis, Acne inversa |
ORPHA:79145 |
| Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... |
ORPHA:740 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Arthr... |
ORPHA:183 |
| Marfan Syndrome |
|
Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl... |
OMIM:154700 |
| Farber Disease |
|
Abnormality of the knee, Abnormality of the elbow, Flexion contracture, Osteoporosis, Joint swell... |
ORPHA:333 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis |
ORPHA:93552 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
| Whipple Disease |
|
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:3452 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm... |
ORPHA:324625 |
| Polymyositis |
|
Arthritis, Pericarditis, Chondrocalcinosis |
ORPHA:732 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
| Overlap Myositis |
|
Arthritis, Subluxation of the small joints of the hand, Rheumatoid arthritis |
ORPHA:206572 |
| Mucopolysaccharidosis Type 2 |
|
Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of the large joints,... |
ORPHA:580 |
| Acromegaly |
|
Joint swelling, Osteoarthritis, Acne |
ORPHA:963 |
| Localized Scleroderma |
|
Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has... |
ORPHA:90289 |
| Glycogen Storage Disease Vii |
|
Gout |
OMIM:232800 |
| Somatomammotropinoma |
|
Joint swelling, Osteoarthritis |
ORPHA:314769 |
| Spondyloenchondrodysplasia |
|
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis |
ORPHA:1855 |
| Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis |
ORPHA:92050 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... |
ORPHA:89936 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... |
OMIM:300755 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology, Osteolysis, Osteochondrosis |
ORPHA:2396 |
| Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... |
ORPHA:810 |
| Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Myocarditis, Flexion ... |
ORPHA:90291 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... |
OMIM:301074 |
| Lymphatic Filariasis |
|
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis |
ORPHA:2035 |
| Giant Cell Arteritis |
|
Arthritis, Pericarditis, Joint stiffness |
ORPHA:397 |
| Marshall Syndrome |
|
Recurrent otitis media, Knee osteoarthritis |
OMIM:154780 |
| Hyper-Igd Syndrome |
|
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Serositis |
OMIM:260920 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Arthritis |
ORPHA:464343 |
| Familial Mediterranean Fever |
|
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas |
OMIM:249100 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis |
ORPHA:91139 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Psoriasiform dermatitis, Arthritis, Chronic oral candidiasis, Recurrent aspiration pn... |
ORPHA:221139 |
| Listeriosis |
|
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocardit... |
ORPHA:533 |
| Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Limitation of joint mobility, Arthritis |
ORPHA:93672 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Art... |
ORPHA:228123 |
| Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Arthritis, Otitis media, Recurrent sinusitis, Chronic sinusitis |
ORPHA:420741 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Pustule, Orchitis, Arthritis, Infectious encephalitis |
ORPHA:761 |
| Congenital Tricuspid Stenosis |
|
Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Erythema nodosum, Arthritis, Panniculitis, Recurrent sinusitis, Recurrent otit... |
OMIM:615688 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie... |
OMIM:619381 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, Cholecystitis |
ORPHA:2331 |
| Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Ankle swelling, Cholangitis, Eczema, Chronic hepatitis, Art... |
ORPHA:3260 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the large intestine, Conjunctivitis, Oti... |
ORPHA:906 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... |
ORPHA:90340 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility... |
ORPHA:286 |
| Hereditary Spherocytosis |
|
Maculopapular exanthema, Gout |
ORPHA:822 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Gout |
ORPHA:412 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Osteoporosis, Pancreatitis, Gout |
OMIM:232220 |
| Glycogen Storage Disease Ia |
|
Osteoporosis, Pancreatitis, Gout |
OMIM:232200 |
| Systemic Lupus Erythematosus |
|
Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis |
ORPHA:536 |
| Sitosterolemia 1 |
|
Arthritis |
OMIM:210250 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis |
OMIM:615846 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis |
OMIM:161700 |
| Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Recurrent fractures, Joint stiffness, Hip dislocation, Cheilitis, Genu valgum, Arth... |
ORPHA:534 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:174000 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, Ulcerative ... |
ORPHA:79259 |
| Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,... |
ORPHA:707 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Arthritis, Joint hyperflexibility |
ORPHA:93111 |
| Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Arthritis, Panniculitis |
ORPHA:51 |
| Glycogen Storage Disease Ic |
|
Stomatitis, Inflammation of the large intestine, Gout, Chronic pancreatitis |
OMIM:232240 |
| 22Q11.2 Deletion Syndrome |
|
Acne, Seborrheic dermatitis, Multiple suture craniosynostosis, Arthritis, Joint hyperflexibility,... |
ORPHA:567 |
| Dermatomyositis |
|
Myocarditis, Arthritis, Pericarditis, Chondrocalcinosis |
ORPHA:221 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout |
OMIM:300661 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Recurrent pneumonia, Elbow flexion contracture, Knee flexion contracture, Abnormal calcification ... |
OMIM:271665 |
| Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine |
OMIM:181000 |
| Fabry Disease |
|
Arthritis, Reduced bone mineral density |
ORPHA:324 |
| Marburg Hemorrhagic Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Pancreatitis |
ORPHA:99826 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility |
ORPHA:217093 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ... |
ORPHA:642 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis |
ORPHA:544482 |
| Gaisböck Syndrome |
|
Cholecystitis, Gout |
ORPHA:90041 |
| Gitelman Syndrome |
|
Tubulointerstitial nephritis, Chondrocalcinosis, Hashimoto thyroiditis, Gout |
ORPHA:358 |
| Tetrasomy 9P |
|
Joint dislocation, Arthritis, Myositis, Pericarditis |
ORPHA:3310 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco... |
ORPHA:99921 |
| Lacrimoauriculodentodigital Syndrome |
|
Arthritis, Keratoconjunctivitis sicca, Keratoconjunctivitis |
ORPHA:2363 |
| Renal Cysts And Diabetes Syndrome |
|
Gout |
OMIM:137920 |
| Aspartylglucosaminuria |
|
Chronic otitis media, Arthritis, Joint stiffness |
ORPHA:93 |
| Choreoacanthocytosis |
|
Arthritis |
ORPHA:2388 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Recurrent skin infections, Camptodactyly of finger, Synovitis, Widely patent fontanel... |
ORPHA:3455 |
| Noonan Syndrome 1 |
|
Cubitus valgus, Synovitis |
OMIM:163950 |
