Osteoarthritis Susceptibility 3 |
|
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... |
OMIM:607850 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Chondrocalcinosis 2 |
|
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis |
OMIM:118600 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
Kienbock Disease |
|
Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility |
ORPHA:97332 |
Developmental Dysplasia Of The Hip 2 |
|
Arthritis, Hip osteoarthritis |
OMIM:615612 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Premature osteoarthritis, Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed os... |
OMIM:105835 |
Arthritis, Sacroiliac |
|
Sacroiliac arthritis |
OMIM:108100 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
Talo-Patello-Scaphoid Osteolysis |
|
Synovitis, Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae |
ORPHA:50809 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
OMIM:609655 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Osteoarthritis, Hip osteoarthritis |
OMIM:271600 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
Brachydactylous Dwarfism, Mseleni Type |
|
Hip osteoarthritis, Knee osteoarthritis, Osteopenia, Abnormality of the wrist, Joint subluxation,... |
ORPHA:2619 |
Peripheral Dysostosis |
|
Joint stiffness, Osteoarthritis |
ORPHA:1795 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis |
ORPHA:2206 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Arthropathy, Chon... |
OMIM:118610 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Osteoarthritis With Mild Chondrodysplasia |
|
Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis |
OMIM:604864 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Familial Calcium Pyrophosphate Deposition |
|
Chondrocalcinosis, Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Jo... |
ORPHA:1416 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Familial Avascular Necrosis Of Femoral Head |
|
Limited hip movement, Hip osteoarthritis |
ORPHA:86820 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint hypermobility, Osteoarthritis, Joint dislocation, Joint laxity |
OMIM:130020 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Beukes Hip Dysplasia |
|
Shallow acetabular fossae, Osteoarthritis |
OMIM:142669 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
Osteochondrosis Of The Tarsal Bone |
|
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Osteocho... |
ORPHA:563991 |
Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Abnormal hip joint morphology, Limited knee extension, Delayed epiphyseal ossification, Limited e... |
OMIM:600969 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Recurrent otitis media, Defective T cell proliferation, Recurre... |
OMIM:615615 |
Hemophilia A |
|
Joint hemorrhage, Osteoarthritis |
OMIM:306700 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific... |
ORPHA:2114 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali... |
OMIM:208250 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:613501 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Flattened knee epiphyses, Knee osteoarthritis, Genu varum |
OMIM:600204 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Genu varum, Delayed epiphyseal ossification, Genu valgum, Finger ... |
ORPHA:93308 |
Cranio-Osteoarthropathy |
|
Eczema, Abnormality of the knee, Arthritis, Joint stiffness, Osteoarthritis, Joint swelling |
ORPHA:1525 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Paget Disease Of Bone 6 |
|
Recurrent fractures, Osteoarthritis |
OMIM:616833 |
Candidiasis, Familial, 1 |
|
Chronic mucocutaneous candidiasis, Cutaneous anergy, Recurrent viral infections |
OMIM:114580 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... |
OMIM:615897 |
Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio... |
OMIM:606843 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... |
OMIM:300310 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Osteochondritis Dissecans, Osteoarthritis, Hip osteoarthritis |
OMIM:165800 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... |
OMIM:613493 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Chondritis, Limitation of movement at ankles, Knee osteoarthritis, Arthri... |
ORPHA:566943 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Ectopic ossification in muscle tissue, Limitation of joint mobility |
ORPHA:2762 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility |
ORPHA:63442 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Osteoarthritis, Abnormality of the knee |
OMIM:614135 |
Multicentric Reticulohistiocytosis |
|
Arthritis |
ORPHA:139436 |
Hemophilia B |
|
Joint hemorrhage, Osteoarthritis |
OMIM:306900 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Genu varum, Genu valgum, Joint stiffness, Recurrent fractures, Osteoarthritis |
ORPHA:1822 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Chondritis, Osteochondrosis, Arthritis, Joint stiffness, Progressive join... |
ORPHA:564003 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Pustule, Septic arthritis |
ORPHA:36237 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Osteoarthritis, Delayed epiphyseal ossification |
OMIM:618618 |
Hemophilia A With Vascular Abnormality |
|
Joint hemorrhage, Osteoarthritis |
OMIM:306800 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Osteopenia, Joint su... |
OMIM:130060 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... |
OMIM:166600 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Joint stiffness, Osteoarthritis |
ORPHA:1345 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Arthritis, Skin rash, Flexion contracture, Limitation of j... |
ORPHA:231 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Hip osteoarthritis, Generalized joint laxity, Delayed epiphyseal ossification, Genu valgum, Limit... |
OMIM:132400 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Genu varum, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Genu valgum, Abno... |
ORPHA:166002 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Dysspondyloenchondromatosis |
|
Generalized joint laxity, Joint dislocation, Genu valgum, Enlarged joints, Osteoarthritis |
ORPHA:85198 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis |
ORPHA:166100 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Premature osteoarthritis, Delayed tarsal ossification, Delayed ossification of carpal bones, Genu... |
OMIM:607078 |
Widow'S Peak Syndrome |
|
Arthralgia/arthritis, Recurrent patellar dislocation, Hip osteoarthritis |
OMIM:314570 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Polyarticular arthritis, Synovitis, Symmetric polyarthritis, Reduced bone mineral density, Osteop... |
ORPHA:85435 |
Pseudoachondroplasia |
|
Limited hip extension, Genu varum, Increased laxity of ankles, Irregular acetabular roof, Osteoar... |
ORPHA:750 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Limitation of joint mobility |
ORPHA:2582 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand |
ORPHA:85169 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
Hypochondroplasia |
|
Osteoarthritis, Joint hyperflexibility, Genu varum, Abnormality of the elbow |
ORPHA:429 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Progressive Pseudorheumatoid Dysplasia |
|
Genu varum, Osteoporosis, Enlarged interphalangeal joints, Joint contracture of the hand, Camptod... |
OMIM:208230 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip osteoarthritis, Hip contracture, Abnormality of the knee, Limited hip movement, Hip subluxati... |
ORPHA:99642 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Acne, Arthritis, Knee flexion contracture, Colitis, Elbow flexion... |
OMIM:604416 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Ankle swelling, Hip osteoarthriti... |
ORPHA:85408 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Joint dislocation, Arthritis, Genu valgum, Osteomyelitis, Mandibular ... |
ORPHA:53 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Arthritis, Otitis media, Purulent rhinitis, Conjunctivitis |
OMIM:601457 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... |
OMIM:240500 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal joint morphology, Osteoporosis, Synostosis of carpal bones, Genu valgum, Limitation of j... |
ORPHA:93351 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limited elbow extension, Capitate-hamate fusion, Genu valgum |
OMIM:271650 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Abnormal acetabulum morphology, Genu varum, Abnormal hip joint morphology, Delayed proximal femor... |
ORPHA:93311 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... |
OMIM:209920 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM |
OMIM:242850 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness |
ORPHA:2485 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Sydenham Chorea |
|
Septic arthritis, Endocarditis |
ORPHA:306731 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... |
OMIM:607594 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Joint hyperflexibility |
ORPHA:90653 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Decreased circulating antibody level, Recurre... |
OMIM:601495 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Knee dislocation, Osteoporosis, Shoulder dislocation, Hip dislocation, Osteoarthritis |
OMIM:618000 |
Hemochromatosis, Type 4 |
|
Osteoarthritis |
OMIM:606069 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... |
OMIM:608184 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis |
ORPHA:567544 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Abnormality of the wrist, Osteoarthritis, Osteolysis |
ORPHA:1657 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Limitation ... |
ORPHA:69126 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal acetabulum morphology, Abnormal hip joint morphology, Genu valgum, Limitation of joint m... |
ORPHA:166011 |
Ulnar Hemimelia |
|
Limited elbow flexion, Abnormal calcification of the carpal bones, Abnormality of the humeroulnar... |
ORPHA:93320 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l... |
OMIM:193670 |
Lesch-Nyhan Syndrome |
|
Gout |
ORPHA:510 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... |
ORPHA:319552 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... |
OMIM:300853 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Pericarditis, Arthritis |
OMIM:609939 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Arthritis, Joint swelling, Ulnar deviation of the wrist, ... |
OMIM:228000 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Uveitis, Rheumatoid arthritis, Abnormal... |
ORPHA:85410 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Reticular Dysgenesis |
|
Sepsis, Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Laron Syndrome |
|
Osteoarthritis, Abnormality of the elbow |
ORPHA:633 |
Caspase 8 Deficiency |
|
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... |
OMIM:607271 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:254210 |
Melioidosis |
|
Pneumonia, Prostatitis, Hepatitis, Septic arthritis, Parotitis, Acute infectious pneumonia, Osteo... |
ORPHA:31202 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... |
OMIM:607676 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:243700 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis |
OMIM:270150 |
Diverticulosis, Small-Intestinal |
|
Rheumatoid arthritis, Thyroiditis, Ulcerative colitis |
OMIM:223320 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Genu varum |
ORPHA:93356 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Dec... |
ORPHA:276 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormal hip joint morphology, Hip osteoarthritis, Abnormality of the elbow, Oligoarthritis, Knee... |
ORPHA:85438 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections |
OMIM:614493 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... |
OMIM:613496 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level |
ORPHA:169079 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Impaired neutrophil bactericidal activity |
OMIM:245480 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Conjunctivitis, Uveitis, Arthritis, Skin rash |
OMIM:120100 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout |
OMIM:618061 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Acne |
ORPHA:77296 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash |
OMIM:152700 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash |
OMIM:611762 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... |
ORPHA:93284 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Lack of T cell... |
ORPHA:572 |
Pfapa Syndrome |
|
Infectious encephalitis, Arthritis |
ORPHA:42642 |
Pseudoachondroplasia |
|
Limited hip extension, Genu varum, Irregular carpal bones, Delayed epiphyseal ossification, Genu ... |
OMIM:177170 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:605809 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Crescentic glomerulonephritis, Arthritis |
OMIM:616414 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Abnormal peripheral nervous system synaptic transmission, Facial palsy, Fatigable weakness, Favor... |
ORPHA:353327 |
Desbuquois Dysplasia 1 |
|
Genu varum, Osteoporosis, Radioulnar dislocation, Joint dislocation, Advanced ossification of car... |
OMIM:251450 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Genu varum, Laryngotracheomalacia, Multiple joint dislocation, Generalized joint laxity, Abnormal... |
ORPHA:93360 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Osteoarthritis, Genu varum, Limited elbow extension |
OMIM:602111 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:613779 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Prolonged miniature endplate currents, Fatigable weakness |
OMIM:601462 |
Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Chroni... |
ORPHA:83471 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... |
ORPHA:2688 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Hyperextensibility of the knee, Joint dislocation, Joint... |
OMIM:130000 |
Immunodeficiency 66 |
|
Sepsis, Defective T cell proliferation, Meningitis |
OMIM:618847 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Impaired memory B cell g... |
OMIM:308230 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Rheumatoid arthritis |
OMIM:178610 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis media, Inflammator... |
ORPHA:229717 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
Eosinophilic Fasciitis |
|
Fasciitis, Arthritis, Myositis |
ORPHA:3165 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis |
OMIM:612260 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density, Skin rash |
ORPHA:37748 |
Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Abnormal joint morphology, Abnormal sacroiliac joint morphology, Joint d... |
ORPHA:92 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal sacroiliac joint morpholog... |
ORPHA:324964 |
Familial Cold Urticaria |
|
Arthritis, Conjunctivitis |
ORPHA:47045 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteomyelitis, Recurrent s... |
ORPHA:33110 |
Myasthenic Syndrome, Congenital, 5 |
|
Prolonged miniature endplate currents, Fatigable weakness |
OMIM:603034 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormal joint morphology, Abnormally ossified vertebrae, Limitation of joint mobility, Enlarged ... |
ORPHA:1427 |
Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Recurrent respirato... |
ORPHA:3417 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Hypophosphatemic rickets |
OMIM:307800 |
Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash |
OMIM:617321 |
Hemochromatosis, Type 2A |
|
Arthritis |
OMIM:602390 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Decreased miniature endplate potentials, Facial palsy |
OMIM:608930 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Dec... |
ORPHA:331206 |
Wilson Disease |
|
Chondrocalcinosis, Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis, Atypical or p... |
OMIM:277900 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis |
ORPHA:411593 |
Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Limitation of joint mobility |
ORPHA:399180 |
Cinca Syndrome |
|
Arthritis, Patellar overgrowth, Uveitis, Skin rash |
OMIM:607115 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Lack of T cell function, Recurrent otitis media, Increased ci... |
ORPHA:277 |
Complement Factor I Deficiency |
|
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent skin infections, Glomerul... |
OMIM:610984 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Abnormal sacroi... |
ORPHA:793 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Premature osteoarthritis, Recurrent pneumonia, Flexion contracture, Enlarged joints |
OMIM:215150 |
Hemochromatosis, Type 3 |
|
Arthritis |
OMIM:604250 |
Alkaptonuria |
|
Prostatitis, Joint dislocation, Arthritis, Reduced bone mineral density, Joint stiffness, Osteoar... |
ORPHA:56 |
Felty Syndrome |
|
Sinusitis, Pericarditis, Episcleritis, Synovitis, Abnormal joint morphology, Chronic otitis media... |
ORPHA:47612 |
Blau Syndrome |
|
Eczema, Pericarditis, Synovitis, Flexion contracture of toe, Arthritis, Nongranulomatous uveitis,... |
OMIM:186580 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... |
ORPHA:183675 |
Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Arthritis |
ORPHA:85446 |
Psoriasis 14, Pustular |
|
Cholangitis, Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis |
OMIM:614204 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Nasal chondritis, Chondritis of pinna, Neutrophilic infiltr... |
OMIM:301054 |
Stickler Syndrome, Type I |
|
Arthropathy, Osteoarthritis |
OMIM:108300 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal acetabulum morphology, Limb joint contracture, Genu varum, Delayed epiphyseal ossificati... |
ORPHA:93314 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Arthritis, Septic arthritis, Osteomyelitis |
OMIM:619423 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis |
ORPHA:375 |
Idiopathic Camptocormia |
|
Abnormal inflammatory response, Osteoarthritis, Myositis, Myelitis |
ORPHA:1320 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Cervical subluxation |
OMIM:184100 |
Lyme Disease |
|
Joint swelling, Uveitis, Infectious encephalitis, Arthritis |
ORPHA:91546 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Eczema, Recurrent pneumonia, Septic arthritis |
OMIM:617780 |
Periodic Fever, Familial, Autosomal Dominant |
|
Polyarticular arthritis, Myositis, Oligoarthritis, Maculopapular exanthema, Skin rash, Erysipelas... |
OMIM:142680 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Hyperuricemia, Hprt-Related |
|
Podagra |
OMIM:300323 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Elbow flexion contracture, Metatarsal synostosis, Genu valgum, Dislocation of the femoral head, C... |
ORPHA:93307 |
Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... |
ORPHA:31205 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Polyarticular arthritis, Psoriasiform dermatitis, Abnormality of the knee, Oligoarthritis, Sacroi... |
ORPHA:85436 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Decreased circulating antibody ... |
OMIM:616005 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... |
OMIM:300755 |
Behcet Syndrome |
|
Epididymitis, Arthritis, Iridocyclitis, Iritis, Erythema nodosum |
OMIM:109650 |
Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... |
ORPHA:331235 |
Gaucher Disease Type 1 |
|
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis |
ORPHA:77259 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Seborrheic dermatitis, Osteoporosis, Wormian bones, Arthritis, Osteopenia,... |
OMIM:259100 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout |
OMIM:617056 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, Arthritis, Ost... |
ORPHA:47 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... |
OMIM:307200 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
Glycogen Storage Disease Vii |
|
Gout |
OMIM:232800 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Impaired T cell function, Rec... |
OMIM:613179 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Chronic gastritis, Arthritis, Colitis |
OMIM:608809 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease |
OMIM:616100 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections |
OMIM:615978 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Generalized bone demineralization, Delayed epiphyseal ossification, Premature osteoar... |
ORPHA:93352 |
Buschke-Ollendorff Syndrome |
|
Generalized osteosclerosis, Craniosynostosis, Arthritis, Osteopoikilosis, Flexion contracture, Jo... |
ORPHA:1306 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Increas... |
ORPHA:77297 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand |
OMIM:601344 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand, Osteopenia |
OMIM:190350 |
Muckle-Wells Syndrome |
|
Episcleritis, Arthritis, Uveitis, Skin rash, Camptodactyly of finger, Recurrent aphthous stomatit... |
ORPHA:575 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Anterior uveitis, Juvenile rheumatoid arthritis, Skin rash, Joint swelling |
ORPHA:85414 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... |
ORPHA:39812 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia, Osteopenia |
OMIM:613328 |
Alpha-Mannosidosis |
|
Chronic otitis media, Arthritis, Synostosis of joints |
ORPHA:61 |
Familial Mediterranean Fever |
|
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Skin rash, Orchitis, Osteoarthritis, Erysipelas |
ORPHA:342 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, Severe varicella zoster infection, Decreased circulating IgA leve... |
OMIM:606367 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout |
OMIM:300661 |
Severe Hemophilia A |
|
Limb joint contracture, Synovitis, Joint hemorrhage, Limitation of joint mobility, Progressive jo... |
ORPHA:169802 |
Scedosporiosis |
|
Sinusitis, Arthralgia/arthritis, Pericarditis, Pneumonia, Endocarditis, Septic arthritis, Osteomy... |
ORPHA:449280 |
Adult-Onset Still Disease |
|
Myocarditis, Pericarditis, Hepatitis, Arthritis, Skin rash, Joint swelling |
ORPHA:829 |
Rheumatoid Arthritis |
|
Joint stiffness, Polyarticular arthritis, Rheumatoid arthritis, Joint swelling |
OMIM:180300 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... |
OMIM:619374 |
Alkaptonuria |
|
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Limited hip movement, Limited shou... |
OMIM:203500 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Arthritis |
ORPHA:411543 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... |
OMIM:233710 |
Zika Virus Disease |
|
Wrist swelling, Infectious encephalitis, Ankle swelling, Arthritis, Skin rash, Maculopapular exan... |
ORPHA:448237 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Membranous nephropathy, Recurrent otitis media, Recurrent sinusitis, Arthritis |
OMIM:615559 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Decreased miniature endplate potentials, Facial palsy, Fatigable weakness of respiratory muscles,... |
ORPHA:98913 |
Moderate Hemophilia A |
|
Synovitis, Hip contracture, Joint hemorrhage, Limitation of joint mobility, Arthropathy, Joint sw... |
ORPHA:169805 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of t... |
ORPHA:371428 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis |
ORPHA:48104 |
Takayasu Arteritis |
|
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis |
ORPHA:3287 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
ORPHA:169090 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Brucellosis |
|
Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Hip osteoarthritis, ... |
ORPHA:1304 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Myositis, Panniculitis, Arthritis, Skin rash, Flexion contracture, Conjunctivitis |
OMIM:617591 |
Nail-Patella Syndrome |
|
Abnormality of the knee, Cubitus valgus, Reduced bone mineral density, Contracture of the distal ... |
ORPHA:2614 |
Marshall Syndrome |
|
Osteoarthritis, Genu valgum |
ORPHA:560 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... |
OMIM:233690 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Arthritis, Limitation of joint mobility, Peritonitis |
ORPHA:343 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Pustule |
ORPHA:48377 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Recurrent otitis media, Recurrent pneumonia |
OMIM:617475 |
Wilson Disease |
|
Hepatitis, Arthritis, Acute hepatitis, Pathologic fracture, Joint swelling |
ORPHA:905 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatitis, Arthritis, Acut... |
ORPHA:2137 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, Decreased circulating total IgA, Decreased specific antibody resp... |
ORPHA:221139 |
Reynolds Syndrome |
|
Arthritis, Infectious encephalitis, Skin rash, Keratoconjunctivitis sicca |
ORPHA:779 |
Microscopic Polyangiitis |
|
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Arthritis, Pancreatitis, Increased inflammato... |
ORPHA:727 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Joint dislocation, Arthritis, Uveitis, Inflammatory abnormality of the eye, Skin ra... |
ORPHA:36412 |
Rheumatic Fever |
|
Sinusitis, Myocarditis, Pericarditis, Endocarditis, Arthritis |
ORPHA:3099 |
Vici Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... |
OMIM:242840 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Hepatitis, Arthritis, Glomerulonephritis |
OMIM:304790 |
Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Enthesitis,... |
ORPHA:29207 |
Loeys-Dietz Syndrome 5 |
|
Flexion contracture of toe, Congenital finger flexion contractures, Joint hypermobility, Eosinoph... |
OMIM:615582 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lack of T cell function, Recurrent opportunist... |
ORPHA:35078 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
Mixed Connective Tissue Disease |
|
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Arthritis, Gastritis, Skin rash,... |
ORPHA:809 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in response to anti-... |
OMIM:600802 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Pneumonia, Bronchiectasis, Recurrent otitis media, Arthritis... |
OMIM:614700 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Erythroderma |
OMIM:619510 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Rec... |
OMIM:102700 |
Synaptic Congenital Myasthenic Syndromes |
|
Facial palsy, Recurrent lower respiratory tract infections, Abnormal synaptic transmission at the... |
ORPHA:98915 |
Adiposis Dolorosa |
|
Recurrent skin infections, Arthritis |
ORPHA:36397 |
Dowling-Degos Disease |
|
Acne inversa, Arthritis |
ORPHA:79145 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Viral hepatitis, Arthritis |
ORPHA:91138 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Fasciitis, Hep... |
ORPHA:36234 |
Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Gaucher Disease |
|
Hepatitis, Joint dislocation, Arthrogryposis multiplex congenita, Osteopenia, Osteomyelitis, Incr... |
ORPHA:355 |
Pachydermoperiostosis |
|
Eczematoid dermatitis, Genu varum, Seborrheic dermatitis, Osteoporosis, Acne, Arthritis, Osteomye... |
ORPHA:2796 |
Immunodeficiency 23 |
|
Severe varicella zoster infection, Increased circulating IgG level, Chronic mucocutaneous candidi... |
OMIM:615816 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Osteoporosis, Arthritis, Joint stiffness, Stiff interphalangeal joints, Arthropathy, Joint swelling |
ORPHA:465508 |
Insulin-Resistance Syndrome Type B |
|
Nephritis, Osteoarthritis, Skin rash, Pneumonia |
ORPHA:2298 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent ear ... |
ORPHA:486 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... |
OMIM:617241 |
Pgm3-Cdg |
|
Recurrent bacterial infections, Sepsis, Increased circulating IgA level, Recurrent fungal infecti... |
ORPHA:443811 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Fusariosis |
|
Sinusitis, Pneumonia, Bronchiectasis, Peritonitis, Myositis, Fasciitis, Panniculitis, Arthritis, ... |
ORPHA:228119 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent gram-negative bact... |
OMIM:116920 |
Hunter-Macdonald Syndrome |
|
Premature osteoarthritis, Cubitus valgus, Joint contracture of the hand, Camptodactyly, Delayed c... |
OMIM:611962 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Arthritis, Rheumatoid arthritis |
ORPHA:206572 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Recurrent bacterial infections |
OMIM:603585 |
Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Aneurysm-Osteoarthritis Syndrome |
|
Knee osteoarthritis, Osteoporosis, Intervertebral disc degeneration, Osteoarthritis of the small ... |
ORPHA:284984 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Peritonitis, Myositis, Abnormal sacroiliac joint morphology, Fasciitis, Arthritis, ... |
ORPHA:32960 |
Relapsing Polychondritis |
|
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hepatitis, Arthritis, K... |
ORPHA:728 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Arthritis, Increase... |
ORPHA:183 |
Sitosterolemia 1 |
|
Arthritis |
OMIM:210250 |
Chikungunya |
|
Infectious encephalitis, Synovitis, Arthritis, Ankle joint effusion, Joint swelling, Osteolysis, ... |
ORPHA:324625 |
Whipple Disease |
|
Myocarditis, Infectious encephalitis, Pericarditis, Myositis, Arthritis, Uveitis |
ORPHA:3452 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease |
OMIM:609536 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Discoid lupus rash, Nephritis, Arthritis, Malar rash, Skin rash |
ORPHA:93552 |
Polymyositis |
|
Chondrocalcinosis, Pericarditis, Arthritis |
ORPHA:732 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Osteogenesis Imperfecta |
|
Fractures of the long bones, Increased susceptibility to fractures, Osteoporosis, Wormian bones, ... |
ORPHA:666 |
Stickler Syndrome |
|
Chronic otitis media, Joint dislocation, Reduced bone mineral density, Genu valgum, Hip dislocati... |
ORPHA:828 |
Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis |
ORPHA:92050 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyo... |
OMIM:242700 |
Kid Syndrome |
|
Keratoconjunctivitis sicca, Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess fo... |
ORPHA:477 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconjunctivitis sicca, Joint dislocation, Wormian bones, Abnormality of the wrist, Hip dislo... |
ORPHA:285 |
Scleroderma |
|
Myocarditis, Pericarditis, Episcleritis, Fasciitis, Arthritis, Osteomyelitis, Keratitis, Uveitis,... |
ORPHA:801 |
Localized Scleroderma |
|
Sclerosis of finger phalanx, Fasciitis, Esophagitis, Arthritis, Uveitis, Flexion contracture, Has... |
ORPHA:90289 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Reduced natural killer cell activity, Chronic oral candidiasis, R... |
OMIM:608233 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Recurrent candida infections, Impaired T cell function |
OMIM:201100 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... |
ORPHA:3243 |
X-Linked Hypophosphatemia |
|
Genu varum, Sacroiliac joint synovitis, Rickets, Generalized osteosclerosis, Craniosynostosis, Ar... |
ORPHA:89936 |
Spondyloenchondrodysplasia |
|
Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis, Skin rash |
ORPHA:1855 |
Farber Disease |
|
Abnormality of the knee, Abnormality of the elbow, Osteoporosis, Arthritis, Abnormality of the wr... |
ORPHA:333 |
Classical Ehlers-Danlos Syndrome |
|
Generalized joint laxity, Shoulder dislocation, Dislocated radial head, Osteopenia, Joint swellin... |
ORPHA:287 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... |
OMIM:618131 |
Familial Mediterranean Fever |
|
Pericarditis, Peritonitis, Arthritis, Crohn's disease, Orchitis, Erysipelas |
OMIM:249100 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... |
OMIM:601859 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Osteolytic defects of the phalanges of the hand, Arthritis, Foot acroosteolysis |
OMIM:161700 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Recurrent Staphyloc... |
ORPHA:48435 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Chronic oral candidiasis, Arthritis, Serositis, Skin rash |
OMIM:260920 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Osteolytic defects of the distal phalanges of the hand, Reduced... |
ORPHA:740 |
Marfan Syndrome |
|
Genu recurvatum, Joint hypermobility, Protrusio acetabuli, Limited elbow extension, Camptodactyly... |
OMIM:154700 |
Acromegaly |
|
Osteoarthritis, Acne, Joint swelling |
ORPHA:963 |
Shigellosis |
|
Myocarditis, Pneumonia, Peritonitis, Acute colitis, Arthritis, Uveitis, Ulcerative colitis, Conju... |
ORPHA:810 |
Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Abnormal epiphyseal ossification, Contractures of the large joints, Limitatio... |
ORPHA:580 |
Loeys-Dietz Syndrome 3 |
|
Hip osteoarthritis, Knee osteoarthritis, Craniosynostosis, Intervertebral disc degeneration, Eosi... |
OMIM:613795 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating total IgG,... |
OMIM:300972 |
Immunoglobulin A Vasculitis |
|
Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash, Orchitis |
ORPHA:761 |
Somatomammotropinoma |
|
Osteoarthritis, Joint swelling |
ORPHA:314769 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial infections, Abnormal platelet function, Recurrent infections, Decreased nerve... |
ORPHA:167 |
Simple Cryoglobulinemia |
|
Pericarditis, Nephritis, Arthritis, Membranoproliferative glomerulonephritis, Viral hepatitis |
ORPHA:91139 |
Lymphatic Filariasis |
|
Ankle swelling, Lymphadenitis, Knee osteoarthritis, Epididymitis, Orchitis, Glomerulonephritis |
ORPHA:2035 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Arthritis |
ORPHA:464343 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Skin rash, Osteolysis |
ORPHA:100026 |
Hereditary Spherocytosis |
|
Gout, Maculopapular exanthema |
ORPHA:822 |
Systemic Sclerosis |
|
Myocarditis, Pericarditis, Arthritis, Osteomyelitis, Joint swelling, Recurrent skin infections, F... |
ORPHA:90291 |
Juvenile Dermatomyositis |
|
Pericarditis, Myositis, Arthritis, Skin rash, Limitation of joint mobility |
ORPHA:93672 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Granulomatous coronary arteritis, Rheumatoid arthritis, Iritis |
OMIM:108050 |
Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Decreased circulating antibody level, Meningitis, Recurre... |
ORPHA:51636 |
Dysbetalipoproteinemia |
|
Gout, Acute pancreatitis |
ORPHA:412 |
Giant Cell Arteritis |
|
Joint stiffness, Pericarditis, Arthritis |
ORPHA:397 |
Riddle Syndrome |
|
Pneumonia, Chronic sinusitis, Arthritis, Otitis media, Recurrent pneumonia, Recurrent sinusitis |
ORPHA:420741 |
Behçet Disease |
|
Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... |
ORPHA:117 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:174000 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Optic atrophy, Recurrent infections, Decreased specific anti-polysaccharide antibody level, Impai... |
OMIM:614576 |
Listeriosis |
|
Myocarditis, Stiff neck, Infectious encephalitis, Pericarditis, Pustule, Pneumonia, Endocarditis,... |
ORPHA:533 |
Glycogen Storage Disease Ia |
|
Osteoporosis, Gout, Pancreatitis |
OMIM:232200 |
Myasthenia Gravis |
|
Hashimoto thyroiditis, Hepatitis, Rheumatoid arthritis, Myositis |
ORPHA:589 |
Chediak-Higashi Syndrome |
|
Recurrent infections, Decreased nerve conduction velocity, Recurrent bacterial skin infections, I... |
OMIM:214500 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Eczema, Panniculitis, Recurrent otitis media, Arthritis, Skin rash, Recurrent sinusitis, Hashimot... |
OMIM:615688 |
Glycogen Storage Disease Ib |
|
Osteoporosis, Gout, Pancreatitis |
OMIM:232220 |
Blau Syndrome |
|
Abnormal inflammatory response, Polyarticular arthritis, Pericarditis, Synovitis, Posterior uveit... |
ORPHA:90340 |
Coccidioidomycosis |
|
Pericarditis, Folliculitis, Pneumonia, Peritonitis, Panniculitis, Arthritis, Pancreatitis, Osteom... |
ORPHA:228123 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Recurrent herpes, Increased circulating IgA level, Recurrent otitis media, Abnormal delay... |
OMIM:301000 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Kawasaki Disease |
|
Myocarditis, Pericarditis, Cheilitis, Hepatitis, Arthritis, Skin rash, Cholecystitis, Conjunctivitis |
ORPHA:2331 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased specific ... |
OMIM:600903 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Recurrent respiratory infections |
OMIM:612541 |
Primary Sjögren Syndrome |
|
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... |
ORPHA:289390 |
Obesity Due To Congenital Leptin Deficiency |
|
Recurrent upper respiratory tract infections, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:66628 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections |
OMIM:617053 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Keratiti... |
ORPHA:906 |
Lymphoid Interstitial Pneumonia |
|
Keratoconjunctivitis sicca, Eczema, Bronchiectasis, Rheumatoid arthritis, Skin rash |
ORPHA:79128 |
Leukocyte Adhesion Deficiency |
|
Recurrent bacterial infections, Sepsis, BCGosis, Recurrent fungal infections, Chronic oral candid... |
ORPHA:2968 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Ankle swelling, Arthriti... |
ORPHA:3260 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Recurrent upper respiratory tract infections, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:179494 |
Thymoma |
|
Glomerulonephritis, Rheumatoid arthritis, Ulcerative colitis, Myositis |
ORPHA:99867 |
Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Bronchiectasis, Hepatitis, Recurrent otitis media, Arthritis, Osteomyelitis, Gastritis... |
OMIM:619381 |
Multiple Osteochondromas |
|
Abnormality of the carpal bones, Abnormality of the knee, Femoroacetabular impingement, Arthritis... |
ORPHA:321 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Recurrent otitis media, Rheumatoid arthritis, Juvenile rheumatoid arthritis, Recurrent... |
OMIM:607944 |
Autoimmune Lymphoproliferative Syndrome |
|
Glomerulonephritis, Hepatitis, Panniculitis, Arthritis, Gastritis, Uveitis, Thyroiditis, Recurren... |
ORPHA:3261 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Arthritis, Joint hyperflexibility |
ORPHA:93111 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Recurrent fungal infec... |
OMIM:619573 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial infections |
ORPHA:244 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Osteopen... |
ORPHA:227990 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Progressive flexion contractures, Rheumatoid arthritis |
ORPHA:98808 |
Plague |
|
Inflammation of the large intestine, Abnormality of the elbow, Endocarditis, Lymphadenitis, Chapp... |
ORPHA:707 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Severe varicella zoster infection, Defective T cell proliferation, Increased circulating IgG leve... |
OMIM:618213 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Increased susceptibility to fractures, Osteoporosis, Gout, P... |
ORPHA:79259 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Gout |
OMIM:232240 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Osteopen... |
ORPHA:227982 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function |
ORPHA:30 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Periodontitis, Osteoarthritis, Joint hyperflexibil... |
ORPHA:286 |
Oculocerebrorenal Syndrome Of Lowe |
|
Chronic otitis media, Cheilitis, Arthritis, Genu valgum, Periodontitis, Hip dislocation, Recurren... |
ORPHA:534 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Bronchiectasis, Arthritis, Iridocyclitis, Uveitis |
OMIM:181000 |
Aicardi-Goutières Syndrome |
|
Myositis, Panniculitis, Arthritis, Multiple joint contractures, Chilblains |
ORPHA:51 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Recurrent infections, Impaired T cel... |
ORPHA:1830 |
Shwachman-Diamond Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent viral infections, Bone marrow hypocellularity, ... |
ORPHA:811 |
Dermatomyositis |
|
Myocarditis, Chondrocalcinosis, Pericarditis, Arthritis |
ORPHA:221 |
Sickle Cell Anemia |
|
Recurrent bacterial infections |
OMIM:603903 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent aspiration pneumonia, Fasciitis, Neuropathic arthropathy, Septic arthritis, Osteomyelit... |
ORPHA:642 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pneumonia, Acute colitis, Pancreatitis, Septic arthritis |
ORPHA:544482 |
Gaisböck Syndrome |
|
Gout, Cholecystitis |
ORPHA:90041 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Arthritis, Pancreatitis, Uveitis, Maculopapular exanthema, Skin rash, Orchitis |
ORPHA:99826 |
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 |
Fabry Disease |
|
Arthritis, Reduced bone mineral density |
ORPHA:324 |
22Q11.2 Deletion Syndrome |
|
Chronic otitis media, Seborrheic dermatitis, Acne, Arthritis, Multiple suture craniosynostosis, P... |
ORPHA:567 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Membranous nephropathy... |
ORPHA:49041 |
Chronic Graft Versus Host Disease |
|
Keratoconjunctivitis sicca, Urinary bladder inflammation, Bronchiectasis, Fasciitis, Arthritis, F... |
ORPHA:99921 |
Renal Cysts And Diabetes Syndrome |
|
Gout |
OMIM:137920 |
Aspartylglucosaminuria |
|
Chronic otitis media, Arthritis, Joint stiffness |
ORPHA:93 |
Gitelman Syndrome |
|
Hashimoto thyroiditis, Chondrocalcinosis, Tubulointerstitial nephritis, Gout |
ORPHA:358 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections, Increased circulating antibody level, Decreased circulating antib... |
ORPHA:470 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis sicca, Keratoconjunctivitis, Arthritis |
ORPHA:2363 |
Tetrasomy 9P |
|
Joint dislocation, Pericarditis, Arthritis, Myositis |
ORPHA:3310 |
Noonan Syndrome 1 |
|
Cubitus valgus, Synovitis |
OMIM:163950 |
Velocardiofacial Syndrome |
|
Recurrent infections, Impaired T cell function |
OMIM:192430 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent respiratory infections, Aganglionic megacolon, Recurren... |
ORPHA:2273 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Wiedemann-Rautenstrauch Syndrome |
|
Synovitis, Recurrent otitis media, Osteopenia, Joint hypermobility, Widely patent fontanelles and... |
ORPHA:3455 |
Marfan Syndrome |
|
Arthralgia/arthritis, Osteoporosis, Osteopenia, Joint hypermobility, Protrusio acetabuli, Limited... |
ORPHA:558 |
Progeroid Short Stature With Pigmented Nevi |
|
Recurrent viral infections, Impaired T cell function |
OMIM:176690 |
Choreoacanthocytosis |
|
Arthritis |
ORPHA:2388 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Digeorge Syndrome |
|
Recurrent infections, Impaired T cell function |
OMIM:188400 |