Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
superoxide dismutase 3, extracellular
Synonyms:
EC-SOD

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sod3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sod3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycoprotein Storage Disease
Gout OMIM:232900
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... ORPHA:563991
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart... ORPHA:85435
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Congenital Atransferrinemia
Arthritis ORPHA:1195
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation... ORPHA:2619
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... ORPHA:860
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... ORPHA:1416
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Mueller-Weiss Syndrome
Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at... ORPHA:566943
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat... ORPHA:70589
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I... ORPHA:85410
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros... ORPHA:564003
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node OMIM:604864
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Dracunculiasis
Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc... ORPHA:231
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... ORPHA:1329
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis OMIM:609939
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu... ORPHA:324604
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Genu valgum, Abno... ORPHA:93308
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Cranio-Osteoarthropathy
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... ORPHA:1525
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti... OMIM:601492
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis OMIM:601457
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody positivity, ... OMIM:620321
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ... OMIM:600969
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti... OMIM:604416
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Arthritis ORPHA:2582
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef... OMIM:613876
Vertical Talus, Congenital
Arthritis OMIM:192950
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit... ORPHA:2114
Papa Syndrome
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Myositis, Pustule... ORPHA:69126
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Antiphospho... OMIM:152700
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology ORPHA:1208
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Coarctation of ao... ORPHA:1209
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev... OMIM:265450
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Limitation of joint mobility, Polyarticular arthritis, Abnormality of tumor necrosis fac... ORPHA:85436
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis ORPHA:567544
Truncus Arteriosus
Ventricular septal defect, Pulmonary edema, Atrial septal defect, Tachycardia, Aortic regurgitati... ORPHA:3384
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Crescentic glomerulonephritis, Arthritis OMIM:616414
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility OMIM:130020
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Rec... ORPHA:423461
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, ... ORPHA:85414
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis ORPHA:2762
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... OMIM:106300
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula... OMIM:613874
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Osteochondritis dissecans, Premature osteoarthritis OMIM:165800
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Autoimmunity, Decreased circulating antibody level, Chronic si... ORPHA:397596
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... ORPHA:85408
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ... ORPHA:1166
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating... OMIM:616100
Congenital Fibrinogen Deficiency
Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage ORPHA:335
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility ORPHA:63442
Melorheostosis
Increased bone mineral density, Joint stiffness, Ectopic ossification in muscle tissue, Arthritis ORPHA:2485
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Dysplasia Epiphysealis Hemimelica
Joint stiffness, Genu valgum, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu varum ORPHA:1822
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the ankle, Genu valgum, Abnormality of the epiphyses of the elbow, Osteoarthritis,... ORPHA:166002
Pseudoachondroplasia
Delayed epiphyseal ossification, Irregular acetabular roof, Joint stiffness, Genu valgum, Increas... ORPHA:750
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Joint swelling, Osteolytic defects of the phalanges of th... OMIM:228000
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... OMIM:616028
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... ORPHA:90308
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Chronic otitis media, Type 1 muscle fiber predomi... OMIM:612949
Isolated Agammaglobulinemia
Pneumonia, Autoimmunity, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality ... ORPHA:229717
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Lesch-Nyhan Syndrome
Gout ORPHA:510
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Hip osteoarthritis, Limited hip movement, Joint stiffness, Genu ... OMIM:132400
Dysspondyloenchondromatosis
Joint dislocation, Genu valgum, Generalized joint hypermobility, Osteoarthritis, Enlarged joints ORPHA:85198
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Pulmonary hypoplasia, Pulmonary artery a... ORPHA:99050
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Systolic heart murmur, Ao... ORPHA:3092
Congenital Rubella Syndrome
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Skin rash, Atrial s... ORPHA:290
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Co... ORPHA:33110
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Autoimmune Hepatitis
Antineutrophil antibody positivity, Inflammation of the large intestine, Sclerosing cholangitis, ... ORPHA:2137
Autoimmune Lymphoproliferative Syndrome, Type Iii
Anticardiolipin IgG antibody positivity, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt... OMIM:615559
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Arthritis, Skin rash, Erythema nodosum OMIM:611762
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Genu valgum, Delayed tarsal ossification, Delayed ossification of carpa... OMIM:607078
Schnitzler Syndrome
Increased bone mineral density, Increased circulating IgM level, Skin rash, Arthritis ORPHA:37748
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Ventricular septal defect, Hepatomegaly, Arthrogryposis multiplex congenita... OMIM:613404
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Ventricular septal defect, Hypoplasia of the diaphragm, Atrial... ORPHA:185
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Generalized osteoscleros... ORPHA:53
Hypochondroplasia
Abnormality of the elbow, Genu varum, Osteoarthritis, Joint hypermobility ORPHA:429
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Skin rash, Arthritis, Uveitis OMIM:120100
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Pulmon... ORPHA:98915
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal... OMIM:208230
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect OMIM:613759
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:614432
Acute Lung Injury
Pneumonia, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentr... ORPHA:178320
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arth... OMIM:208085
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Limited hip movement, Hip contracture, Abnormality of the knee, Hip subluxati... ORPHA:99642
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash, Agammaglobulinemia, Arthr... ORPHA:47
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Zika Virus Disease
Myelitis, Ankle swelling, Wrist swelling, Skin rash, Infectious encephalitis, Arthritis, Conjunct... ORPHA:448237
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Atrial se... OMIM:267010
Felty Syndrome
Recurrent pneumonia, Limitation of joint mobility, Abnormal joint morphology, Osteolysis, Autoimm... ORPHA:47612
Neuropathy, Hereditary Sensory And Autonomic, Type V
Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R... OMIM:608654
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, E... ORPHA:363618
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:324964
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Arthritis ORPHA:375
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ... OMIM:617321
Multiple Epiphyseal Dysplasia Type 5
Premature osteoarthritis, Limited hip movement, Genu valgum, Joint stiffness, Intervertebral disk... ORPHA:93311
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis ORPHA:3165
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Autoimmunity, Septic arthritis, Decreased circulating... OMIM:617780
Rheumatoid Arthritis
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... OMIM:180300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Decrease... OMIM:614700
Dextrocardia
Abnormal lung lobation, Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, Abnormal... ORPHA:1666
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bronchiectasis, Osteoarthritis, Joint hypermobility OMIM:620080
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Acne inversa... ORPHA:3243
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Autoimmunity, Decreased circulati... ORPHA:275
Familial Cold Urticaria
Conjunctivitis, Arthritis ORPHA:47045
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... OMIM:619510
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Abnor... OMIM:208530
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Limited elbow extension, Osteoarthritis, Capitate-hamate fusion OMIM:271650
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:620294
Sapho Syndrome
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:793
Wild Type Abeta2M Amyloidosis
Arthritis, Arthropathy ORPHA:85446
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Lymphadenitis OMIM:612260
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Cinca Syndrome
Patellar overgrowth, Skin rash, Arthritis, Uveitis OMIM:607115
Hemochromatosis, Type 3
Arthritis OMIM:604250
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Erythroderma, Glomerulonephrit... OMIM:304790
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Morgagni diaphragmatic hernia, Atelect... OMIM:613177
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Abnormality of the ankle, Anterior uveitis, Sacroiliac arthritis, Abnormal hi... ORPHA:85438
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interferon-gamma concentration, Abnormality of tumor necrosis factor secret... ORPHA:540
Stickler Syndrome Type 1
Osteoarthritis, Joint hypermobility ORPHA:90653
Catastrophic Antiphospholipid Syndrome
Anticardiolipin IgG antibody positivity, Systemic lupus erythematosus, Abnormal circulating cytok... ORPHA:464343
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Polyarticular arthritis, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculop... OMIM:142680
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling... OMIM:186580
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Arthritis OMIM:619423
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona... ORPHA:500
Psoriasis 14, Pustular
Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Cholangitis OMIM:614204
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Joint stiffness, Genu valgum, Abnormal acetabulum morphology, Abnor... ORPHA:166011
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Ulnar Hemimelia
Abnormality of the humeroulnar joint, Carpal synostosis, Limited elbow flexion, Elbow flexion con... ORPHA:93320
Immunodeficiency 67
Septic arthritis, Increased circulating IgE level, Complete or near-complete absence of specific ... OMIM:607676
Dermatoosteolysis, Kirghizian Type
Keratitis, Abnormality of the wrist, Osteoarthritis, Tarsal synostosis, Osteolysis ORPHA:1657
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste... OMIM:259100
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, D... ORPHA:39812
Muckle-Wells Syndrome
Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Arthritis, Conju... ORPHA:575
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotran... OMIM:613751
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Peripheral pulmonary artery stenosis, Blepharitis, Aorti... ORPHA:280633
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Infectious encephalitis, P... OMIM:307200
Lyme Disease
Infectious encephalitis, Joint swelling, Arthritis, Uveitis ORPHA:91546
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Alpha-Mannosidosis
Synostosis of joints, Chronic otitis media, Arthritis ORPHA:61
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Myositis, Arthritis, Sinusitis, Conjunctivitis, ... OMIM:617591
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis... OMIM:610984
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Scedosporiosis
Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica... ORPHA:449280
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Antineutrophil antibody positivity, Systemic lupus erythematosus, ... ORPHA:93552
Hyperimmunoglobulinemia D With Periodic Fever
Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Increased circulating I... ORPHA:343
Antisynthetase Syndrome
Joint dislocation, Autoimmunity, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myoc... ORPHA:81
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi... ORPHA:371428
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... ORPHA:3261
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Arthritis OMIM:184100
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Autoimmunity, Episcleritis, Skin rash, Arthritis, Inflammatory abnormality of ... ORPHA:36412
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Abnormality of the pulmonary vasculature, Transudative p... ORPHA:284227
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Increased susceptibility to fractures, Synov... ORPHA:77297
Microscopic Polyangiitis
Uveitis, Autoimmunity, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pan... ORPHA:727
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Prostatitis, Acute infect... ORPHA:31202
Nail-Patella Syndrome
Contracture of the distal interphalangeal joint of the fingers, Patellar aplasia, Patellar disloc... ORPHA:2614
Roifman-Chitayat Syndrome
Pneumonia, Osteopenia, Arthritis OMIM:613328
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Overlap Myositis
Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ... ORPHA:206572
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Polyarticular arthropathy, ... ORPHA:2848
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis ORPHA:3287
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal aortic morp... ORPHA:991
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Multiple joint dislocation, Hip subluxation, Elbow flexion contr... ORPHA:93360
Behcet Syndrome
Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis OMIM:109650
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Autoimmunity,... ORPHA:1855
Adiposis Dolorosa
Recurrent skin infections, Autoimmunity, Arthritis ORPHA:36397
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis ORPHA:411543
Mixed Connective Tissue Disease
Joint stiffness, Autoimmunity, Skin rash, Joint swelling, Myositis, Gastritis, Keratoconjunctivit... ORPHA:809
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Keutel Syndrome
Recurrent otitis media, Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis... ORPHA:85202
Laron Syndrome
Osteoarthritis, Abnormality of the elbow ORPHA:633
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Recurrent sinusitis, Joint hypermobility, Osteoarthritis, Hyperextensibility o... OMIM:130000
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu recurvatum, Ulnar deviation of the wrist, Genu valgum, Limi... OMIM:177170
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyo... OMIM:300755
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Autoimmune ... ORPHA:331235
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Ventricular ... ORPHA:3426
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Acne, Osteoarthritis ORPHA:77296
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent foramen ovale, Anomalous origin of right ... OMIM:610338
Stickler Syndrome, Type I
Joint stiffness, Joint hypermobility, Arthropathy, Osteoarthritis, Arthritis OMIM:108300
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph... ORPHA:2257
Hyperuricemia, Hprt-Related
Podagra OMIM:300323
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, J... OMIM:618000
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Autoimmunity, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocyt... ORPHA:100026
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,... OMIM:301074
Severe Hemophilia A
Limitation of joint mobility, Progressive joint destruction, Joint swelling, Synovitis, Limb join... ORPHA:169802
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo... ORPHA:36234
Wilson Disease
Hepatitis, Pathologic fracture, Joint swelling, Arthritis, Acute hepatitis ORPHA:905
Rheumatic Fever
Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis ORPHA:3099
Reynolds Syndrome
Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis ORPHA:779
Adult-Onset Still Disease
Hepatitis, Interstitial pneumonitis, Skin rash, Joint swelling, Arthritis, Arthralgia/arthritis, ... ORPHA:829
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti... ORPHA:29207
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Autoimmunity, Osteolysis, Arthritis ORPHA:220393
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A... OMIM:203500
Moderate Hemophilia A
Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Joint hemo... ORPHA:169805
Desbuquois Dysplasia 1
Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal dislocation, Ost... OMIM:251450
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Atrial septal defect, Dextroca... OMIM:619702
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... OMIM:615067
Interstitial Cystitis
Autoimmunity, Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation ORPHA:37202
Viss Syndrome
Aortic root aneurysm, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxim... OMIM:619472
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
Eosinophilic Granulomatosis With Polyangiitis
Autoimmunity, Skin rash, Increased inflammatory response, Myositis, Myocarditis, Arthritis, Sinus... ORPHA:183
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Generalized Pustular Psoriasis
Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Uveitis ORPHA:247353
Pachydermoperiostosis
Limitation of joint mobility, Eczematoid dermatitis, Osteolysis, Osteomyelitis, Joint swelling, S... ORPHA:2796
Dowling-Degos Disease
Acne inversa, Arthritis ORPHA:79145
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Arthritis, Viral hepatitis ORPHA:91138
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Rheumatoid factor positive, Paraproteinemia, ... ORPHA:91139
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Arrhythmia, Tubulointerstitial nephritis, Conjunctiviti... ORPHA:33001
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A... ORPHA:228119
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Genu varum, Osteoarthritis OMIM:602111
Localized Scleroderma
Fasciitis, Sclerosis of finger phalanx, Esophagitis, Autoimmunity, Hashimoto thyroiditis, Arthrit... ORPHA:90289
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Recurrent respirator... OMIM:620186
Polymyositis
Chondrocalcinosis, Autoimmunity, Arthritis, Pericarditis ORPHA:732
Otospondylomegaepiphyseal Dysplasia
Limitation of joint mobility, Abnormal joint morphology, Enlarged joints, Osteoarthritis, Abnorma... ORPHA:1427
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... ORPHA:99094
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Arthropathy ORPHA:3467
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Pulmonary artery stenosis, Ventricular septal ... ORPHA:3427
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Decreased circulat... ORPHA:227990
Hemophilia A
Joint hemorrhage, Osteoarthritis OMIM:306700
Scleromyxedema
Abnormal pulmonary artery morphology, Transient ischemic attack, Abnormal skeletal muscle morphol... ORPHA:167635
Kid Syndrome
Posterior blepharitis, Folliculitis, Acne inversa, Keratitis, Patellar hypoplasia, Psoriasiform d... ORPHA:477
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Chroni... OMIM:150230
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Rheumatoid factor positive, Sacroiliac arthritis, Osteo... ORPHA:1304
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Joint swelling, Arthropathy, Arthritis, Osteoporosis, Stiff interphalangeal joints ORPHA:465508
Thymoma
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Relapsing Polychondritis
Uveitis, Limitation of joint mobility, Hepatitis, Keratitis, Recurrent aphthous stomatitis, Chond... ORPHA:728
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Increased circulating interleukin 6 concentration, Parotitis, Decreased circul... OMIM:620376
Hyper-Igd Syndrome
Lymphadenitis, Skin rash, Serositis, Increased circulating IgA level, Arthritis, Increased circul... OMIM:260920
Whipple Disease
Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis ORPHA:3452
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Decreased circulat... ORPHA:227982
Systemic Sclerosis
Anti-centromere antibody positivity, Osteomyelitis, Joint swelling, Antinuclear antibody positivi... ORPHA:90291
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal sacroiliac j... ORPHA:32960
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Diastasis recti,... OMIM:312870
Glycogen Storage Disease Vii
Gout OMIM:232800
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Rheumatoid factor positi... ORPHA:48435
Chikungunya
Joint stiffness, Skin rash, Maculopapular exanthema, Joint swelling, Crusting erythematous dermat... ORPHA:324625
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Decreased circulating total IgG, Psoriasiform dermatitis, Decreased specific antibody... ORPHA:221139
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... ORPHA:420741
Farber Disease
Abnormality of the wrist, Joint swelling, Arthritis, Abnormality of the knee, Osteoporosis, Flexi... ORPHA:333
Congenital Tufting Enteropathy
Punctate keratitis, Arthritis ORPHA:92050
Hemophilia B
Joint hemorrhage, Osteoarthritis OMIM:306900
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresi... ORPHA:2876
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Genu valgum, Hypophosphatemic rickets, Osteoarthritis OMIM:307800
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Malar rash, Anti-Sm antibody positivity, ... ORPHA:536
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hepatomegaly, Pulmonary artery atresia,... OMIM:301056
Pauci-Immune Glomerulonephritis
Arteritis, Pulmonary hemorrhage, Abnormality of the pulmonary vasculature, Scleritis, Pancreatiti... ORPHA:93126
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Stiff ankle, Elbow flexion contracture, Premature osteoarthritis, D... ORPHA:93307
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Flexion contracture, Recurrent pneumonia, Enlarged joints OMIM:215150
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Genu valgum, Generalized osteo... ORPHA:89936
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczematoid dermatitis, Recurrent otitis media, Decreased circulating antibody level, Skin rash, R... OMIM:615688
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Sclerosis ... OMIM:607944
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... ORPHA:79128
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Decreased circulating total IgG, Pustular rash, Hepatitis, Osteomalacia, Recurrent oti... OMIM:619381
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... OMIM:123700
Shigellosis
Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute colitis... ORPHA:810
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... ORPHA:228116
Idiopathic Camptocormia
Myositis, Myelitis, Osteoarthritis, Abnormal inflammatory response ORPHA:1320
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal enchondral ossification, Premature osteoarthritis, Abno... ORPHA:93314
Coccidioidomycosis
Pneumonia, Folliculitis, Increased circulating IgG level, Morbilliform rash, Osteomyelitis, Skin ... ORPHA:228123
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Skeletal muscle atrophy, Congestive heart fail... ORPHA:79474
Juvenile Dermatomyositis
Limitation of joint mobility, Autoimmunity, Skin rash, Myositis, Arthritis, Pericarditis ORPHA:93672
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Aortic arch aneurysm, Pulmonary arterial hypertension, Atrial septal... OMIM:613834
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis OMIM:249100
Primary Sjögren Syndrome
Arteritis, Anti-Ro/SS-A antibody positivity, Parotitis, Chronic active hepatitis, Polyarticular a... ORPHA:289390
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Premature osteoarthritis, Joint hypermobility, Generalized bone ... ORPHA:93352
Congenital Syphilis
Pneumonia, Keratitis, Synovitis, Osteochondrosis, Pancreatitis, Myocarditis, Rhinitis, Maculopapu... ORPHA:499009
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Diaphragmatic eventration, Aorti... OMIM:620025
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect ORPHA:1908
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Giant Cell Arteritis
Joint stiffness, Arthritis, Pericarditis ORPHA:397
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial s... OMIM:616777
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent otitis me... OMIM:245150
Gaucher Disease Type 1
Osteopenia, Pathologic fracture, Increased circulating antibody level, Osteoarthritis, Osteoporos... ORPHA:77259
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis ORPHA:761
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Systemic lupus erythematosus, Autoimmunity, Skin rash, Antinuclear antibody... ORPHA:2298
Familial Mediterranean Fever
Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, Pericarditis ORPHA:342
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Tetralogy of Fallot, Portal hypertension, Abnormal pulmonary valve m... ORPHA:974
Listeriosis
Pneumonia, Arteritis, Stiff neck, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious enceph... ORPHA:533
Igg4-Related Retroperitoneal Fibrosis
Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasif... ORPHA:49041
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Autoimmunity,... ORPHA:906
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis... ORPHA:117
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Ventricular septal def... ORPHA:2092
Dermatomyositis
Chondrocalcinosis, Anti-Mi2 antibody positivity, Heliotrope rash, Anti-transcription intermediary... ORPHA:221
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Autoimmunity, Osteochondritis dissecans, Intervertebral disk degeneration, Jo... OMIM:619656
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni... OMIM:611812
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Arthritis OMIM:161700
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Increased cir... OMIM:615846
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abnormal circulating chemokine concentration, Increased circulating interleukin 6 conc... ORPHA:544482
Alkaptonuria
Joint dislocation, Joint stiffness, Increased susceptibility to fractures, Joint swelling, Prosta... ORPHA:56
Dysbetalipoproteinemia
Acute pancreatitis, Gout ORPHA:412
Marshall Syndrome
Genu valgum, Osteoarthritis ORPHA:560
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Sitosterolemia 1
Arthritis OMIM:210250
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... OMIM:192430
Glycogen Storage Disease Ia
Osteoporosis, Pancreatitis, Gout OMIM:232200
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Camptodactyly of finger, Ventricular septal defect, Atrial septal de... OMIM:300963
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Ankle swelling, Eczematoid dermatitis, Joint swelling, Coli... ORPHA:3260
Telangiectasia, Hereditary Hemorrhagic, Type 4
Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc... OMIM:610655
Aicardi-Goutières Syndrome
Increased circulating interferon-gamma concentration, Autoimmunity, Chilblains, Multiple joint co... ORPHA:51
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Li... OMIM:620371
Loeys-Dietz Syndrome 5
Joint hypermobility, Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finge... OMIM:615582
Glycogen Storage Disease Ib
Osteoporosis, Inflammation of the large intestine, Pancreatitis, Gout OMIM:232220
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Ventricular ... ORPHA:1692
Blau Syndrome
Posterior uveitis, Limitation of joint mobility, Keratitis, Polyarticular arthritis, Camptodactyl... ORPHA:90340
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Abnor... ORPHA:2306
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Pulm... OMIM:154700
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent foramen ovale, Ventricular septal defect OMIM:620113
Marfan Syndrome
Aortic regurgitation, Spontaneous pneumothorax, Aortic root aneurysm, Aortic dissection, Pulmonar... ORPHA:558
Peters Plus Syndrome
Hypoplastic left heart, Abnormality of the pulmonary artery, Abnormal pulmonary vein morphology, ... ORPHA:709
Multiple Osteochondromas
Limitation of joint mobility, Talipes valgus, Limited hip movement, Genu valgum, Femoroacetabular... ORPHA:321
Kawasaki Disease
Hepatitis, Skin rash, Cholecystitis, Arthritis, Myocarditis, Conjunctivitis, Cheilitis, Pericarditis ORPHA:2331
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Inflammation of the large intestine, Periodontitis, Gout, Increased susceptibility to... ORPHA:79259
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung lobation, Anomalous origin of left pulmonary artery from as... ORPHA:141127
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun... ORPHA:707
Hereditary Hemorrhagic Telangiectasia
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Tongue telangiectasia, Congestive hea... ORPHA:774
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Increased circulating antibody level, Iridocyclitis, Arthrit... OMIM:181000
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Osteomalacia, Joint stiffness, Genu valgum, Recurrent fractures, Joint swelling, J... ORPHA:534
Gaucher Disease
Osteopenia, Joint dislocation, Hepatitis, Osteolysis, Pathologic fracture, Osteomyelitis, Joint s... ORPHA:355
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Camptodactyly, Pulmonar... OMIM:616894
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Progressive flexion contractures ORPHA:98808
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Stomatitis, Chronic pancreatitis OMIM:232240
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Arthritis, Joint hypermobility ORPHA:93111
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Elbow flexion contracture, Knee flexion contracture, Pulmonary arteri... OMIM:601559
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Tricuspid regurgita... OMIM:614437
Chromosome 15Q11.2 Deletion Syndrome
Juvenile rheumatoid arthritis, Joint contracture, Elbow contracture OMIM:615656
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Coffin-Siris Syndrome 4
Macroglossia, Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery a... OMIM:614609
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu... OMIM:618164
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper... ORPHA:284984
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Marburg Hemorrhagic Fever
Uveitis, Skin rash, Orchitis, Increased circulating antibody level, Pancreatitis, Arthritis, Macu... ORPHA:99826
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Autoimmunity, Joint hypermobility, Seborrheic dermatitis, Arthr... ORPHA:567
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Coarctation of aorta, Ventricular septal defect, Absent pulmonary artery OMIM:600460
Hunter-Macdonald Syndrome
Joint contracture of the hand, Delayed cranial suture closure, Premature osteoarthritis, Cubitus ... OMIM:611962
Osteogenesis Imperfecta
Osteopenia, Fractures of the long bones, Genu valgum, Reduced bone mineral density, Increased sus... ORPHA:666
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger ORPHA:217085
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Recurrent otitis media, Ab... ORPHA:261537
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger ORPHA:217093
Fabry Disease
Reduced bone mineral density, Arthritis ORPHA:324
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Abnormal heart morphology, Tetralogy of Fallot, Recurrent otitis ... ORPHA:261552
Wilson Disease
Chondrocalcinosis, Osteomalacia, Joint hypermobility, Atypical or prolonged hepatitis, Osteoarthr... OMIM:277900
Gaisböck Syndrome
Gout, Cholecystitis ORPHA:90041
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Fasciitis, Keratoconjunctivitis sicca, Arthritis, Flexion contractu... ORPHA:99921
Stickler Syndrome
Joint dislocation, Genu valgum, Joint hypermobility, Osteoarthritis, Chronic otitis media, Reduce... ORPHA:828
Tetrasomy 9P
Joint dislocation, Systemic lupus erythematosus, Glue ear, Myositis, Arthritis, Pericarditis ORPHA:3310
Classical Ehlers-Danlos Syndrome
Osteopenia, Shoulder dislocation, Joint swelling, Generalized joint hypermobility, Phalangeal dis... ORPHA:287
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Osteomyelitis, Abnormality... ORPHA:642
Hutchinson-Gilford Progeria Syndrome
Limitation of joint mobility, Limited wrist movement, Limited hip movement, Joint stiffness, Limi... ORPHA:740
Loeys-Dietz Syndrome 3
Osteopenia, Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Join... OMIM:613795
Gitelman Syndrome
Tubulointerstitial nephritis, Chondrocalcinosis, Gout, Hashimoto thyroiditis ORPHA:358
Unilateral Polymicrogyria
Abnormal heart morphology, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Lower limb muscle weakness, Pleural effusion, Pulmonary arteriovenous m... OMIM:606721
Hypermobile Ehlers-Danlos Syndrome
Limitation of joint mobility, Elbow dislocation, Joint dislocation, Osteolysis, Abnormality of th... ORPHA:285
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr... ORPHA:580
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Hepatomegaly, ... OMIM:619534
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Keratoconjunctivitis sicca, Arthritis ORPHA:2363
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Acromegaly
Acne, Joint swelling, Osteoarthritis ORPHA:963
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Pulmonary artery atresia, Ventricular septal defect OMIM:620568
Aspartylglucosaminuria
Joint stiffness, Chronic otitis media, Arthritis ORPHA:93
Somatomammotropinoma
Joint swelling, Osteoarthritis ORPHA:314769
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Congenital diaphragmatic hernia, Pulmonary hypoplasia OMIM:273395
Choreoacanthocytosis
Arthritis ORPHA:2388
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Camptodactyly of finger, Recurrent otitis media, Joint hypermobility, Synovitis, Wide... ORPHA:3455
Ramon Syndrome
Juvenile rheumatoid arthritis OMIM:266270
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... OMIM:214800
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Transient ischemic attack, Spontaneous, rec... ORPHA:2929
Noonan Syndrome 1
Synovitis, Cubitus valgus OMIM:163950
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Periodontitis, Joint dislocation, Joint hypermobility, Osteoarthritis... ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sod3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sod3.

No publications found that use IMPC mice or data for Sod3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Sod3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sod3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter