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Gene: Mmp3 MGI:97010

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
matrix metallopeptidase 3
Synonyms:
SLN1,  SLN-1,  Str1,  STR-1,  progelatinase,  Stmy1,  stromelysin-1,  stromelysin 1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Mmp3 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 Mmp3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Glycoprotein Storage Disease
Gout OMIM:232900
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K... ORPHA:2619
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... 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
Hip osteoarthritis, Limited hip movement ORPHA:86820
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Congenital Atransferrinemia
Arthritis ORPHA:1195
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... OMIM:600969
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... OMIM:615897
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... ORPHA:93308
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue ORPHA:2762
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans OMIM:165800
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... ORPHA:564003
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 51
Recurrent respiratory infections, Abnormal lymphocyte physiology, Recurrent cutaneous fungal infe... OMIM:613953
Vertical Talus, Congenital
Arthritis OMIM:192950
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness ORPHA:1345
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... ORPHA:231
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... ORPHA:166002
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... OMIM:607078
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum ORPHA:85198
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... OMIM:601492
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste... OMIM:132400
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility ORPHA:2582
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... ORPHA:85435
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand ORPHA:85169
Hypochondroplasia
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum ORPHA:429
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss... ORPHA:750
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bronchiectasis, Joint hypermobility OMIM:620080
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... OMIM:208230
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,... OMIM:604416
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... ORPHA:99642
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... OMIM:240500
Epiphyseal Dysplasia, Multiple, 2
Flattened knee epiphyses, Knee osteoarthritis, Osteochondritis dissecans, Genu varum OMIM:600204
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... OMIM:608654
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... ORPHA:53
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoar... ORPHA:85408
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum OMIM:271650
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... ORPHA:93311
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis ORPHA:90653
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Melorheostosis
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness ORPHA:2485
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Decreased miniature endplate potentials, Prolonged miniature endplate currents OMIM:616321
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Immunodeficiency, Common Variable, 1
Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacteri... OMIM:607594
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist ORPHA:1657
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... ORPHA:69126
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Lesch-Nyhan Syndrome
Gout ORPHA:510
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... ORPHA:166011
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... ORPHA:98813
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis ORPHA:567544
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... ORPHA:93320
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... ORPHA:2848
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Laron Syndrome
Osteoarthritis, Abnormality of the elbow ORPHA:633
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Acne, Osteoporosis ORPHA:77296
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Familial Cold Autoinflammatory Syndrome 2
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis OMIM:611762
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Melioidosis
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth... ORPHA:31202
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Enthesitis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth... ORPHA:85438
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased circulating t... OMIM:613496
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi... ORPHA:85410
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Recurrent infections, Reduced natural killer cell activity OMIM:614493
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... ORPHA:276
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:254210
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Genu varum ORPHA:93356
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... OMIM:308230
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... OMIM:130000
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash OMIM:620321
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... OMIM:614868
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis OMIM:616414
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Conjunctivitis, Skin rash, Uveitis OMIM:120100
Pseudoachondroplasia
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... OMIM:177170
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Abnormal peripheral nervous system synaptic transmission, Facial palsy, Favor... ORPHA:353327
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:605809
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener... ORPHA:93360
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Meningitis... ORPHA:83471
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Limited elbow extension, Genu varum OMIM:602111
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Van Den Bosch Syndrome
Recurrent respiratory infections, Unfavorable response of muscle weakness to acetylcholine estera... ORPHA:3417
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
Immunodeficiency 66
Defective T cell proliferation, Meningitis, Sepsis OMIM:618847
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocation, Knee disloca... OMIM:618000
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... ORPHA:229717
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o... OMIM:251450
Eosinophilic Fasciitis
Arthritis, Fasciitis, Myositis ORPHA:3165
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility OMIM:108300
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Schnitzler Syndrome
Arthritis, Increased bone mineral density, Skin rash ORPHA:37748
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis ORPHA:397596
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr... ORPHA:324964
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets OMIM:307800
Familial Cold Urticaria
Arthritis, Conjunctivitis ORPHA:47045
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Decreased circulating antibody level, Decreased circulating total IgM... ORPHA:331206
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... ORPHA:1427
Insulin Autoimmune Syndrome
Arthralgia/arthritis ORPHA:411593
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Hemochromatosis, Type 3
Arthritis OMIM:604250
Cinca Syndrome
Patellar overgrowth, Arthritis, Skin rash, Uveitis OMIM:607115
Sapho Syndrome
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... ORPHA:793
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis ORPHA:85446
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials OMIM:608930
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Abnormal joint morphology, Limitation of joint mobility, R... ORPHA:47612
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Alkaptonuria
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join... ORPHA:56
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis ORPHA:1320
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis OMIM:614204
Combined Oxidative Phosphorylation Deficiency 53
Arthritis, Osteomyelitis, Septic arthritis OMIM:619423
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration OMIM:619656
Anti-Glomerular Basement Membrane Disease
Arthritis ORPHA:375
Zika Virus Disease
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, In... ORPHA:448237
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia OMIM:215150
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Inc... OMIM:616005
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections, Recurrent... OMIM:615468
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... ORPHA:277
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Hyperuricemia, Hprt-Related
Podagra OMIM:300323
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... OMIM:147060
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent... ORPHA:183675
Lyme Disease
Arthritis, Infectious encephalitis, Joint swelling, Uveitis ORPHA:91546
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv... OMIM:142680
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... ORPHA:911
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... OMIM:259100
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... OMIM:610984
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... ORPHA:85436
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Multiple Epiphyseal Dysplasia Type 4
Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed femoral head ossif... ORPHA:93307
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Impaired T cell function, Recurrent viral infections, Recurre... OMIM:613179
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... ORPHA:93314
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease OMIM:616100
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Rheumatoid arthritis ORPHA:399180
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis OMIM:109650
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... ORPHA:575
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Generalized bone deminer... ORPHA:93352
Majeed Syndrome
Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Pustul... ORPHA:77297
Immunodeficiency 96
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... OMIM:619774
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Increased circulating IgA level, Increased circulating IgG level, Rec... OMIM:618048
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia OMIM:613328
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Gout ORPHA:411543
Graft Versus Host Disease
Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula... ORPHA:39812
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand OMIM:601344
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Alkaptonuria
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... OMIM:203500
Alpha-Mannosidosis
Chronic otitis media, Arthritis, Synostosis of joints ORPHA:61
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Joint swelling, Juvenile rheumatoid arthritis ORPHA:85414
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Recurrent pneumonia, Eczema OMIM:617780
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis ORPHA:342
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Rec... OMIM:606367
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art... ORPHA:449280
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Adult-Onset Still Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Joint swelling, Arthritis ORPHA:829
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... OMIM:619374
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233710
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Rheumatoid Arthritis
Joint swelling, Polyarticular arthritis, Rheumatoid arthritis, Joint stiffness OMIM:180300
Severe Hemophilia A
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join... ORPHA:169802
Marshall Syndrome
Osteoarthritis, Genu valgum ORPHA:560
Moderate Hemophilia A
Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Joint swelling, Joint hemo... ORPHA:169805
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Facial palsy, Decr... ORPHA:98913
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Arthritis, Recurrent sinusitis, Membranous nephropathy OMIM:615559
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Takayasu Arteritis
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis ORPHA:3287
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... ORPHA:2614
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233690
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... ORPHA:1304
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Peritonitis, Limitation of joint mobility, Recurrent aphthous stomatitis ORPHA:343
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis ORPHA:48377
Autoimmune Hepatitis
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... ORPHA:2137
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... ORPHA:727
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Adiposis Dolorosa
Arthritis, Recurrent skin infections ORPHA:36397
Loeys-Dietz Syndrome 5
Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture... OMIM:615582
Reynolds Syndrome
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis ORPHA:779
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... OMIM:614700
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Inflammatory abno... ORPHA:36412
Wilson Disease
Hepatitis, Joint swelling, Arthritis, Acute hepatitis, Pathologic fracture ORPHA:905
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthritis, Inflammation of the... ORPHA:29207
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma OMIM:619510
Rheumatic Fever
Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis ORPHA:3099
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Osteolysis, Arthritis... ORPHA:809
Dowling-Degos Disease
Arthritis, Acne inversa ORPHA:79145
Synaptic Congenital Myasthenic Syndromes
Facial palsy, Prolonged miniature endplate currents, Abnormal synaptic transmission at the neurom... ORPHA:98915
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Partial IgA deficiency, Recurrent viral infections, Recurrent o... ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent upper respirato... OMIM:600802
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... OMIM:116920
Cryoglobulinemic Vasculitis
Viral hepatitis, Keratoconjunctivitis sicca, Arthritis ORPHA:91138
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Generalized Pustular Psoriasis
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma ORPHA:247353
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Immunodeficiency 23
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... OMIM:615816
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... ORPHA:486
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Recurrent viral infections, Increased circulating IgE level, R... OMIM:102700
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi... ORPHA:2796
Wilson Disease
Osteomalacia, Osteoarthritis, Atypical or prolonged hepatitis, Osteoporosis, Chondrocalcinosis, J... OMIM:277900
Glycogen Storage Disease Vii
Gout OMIM:232800
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma,... OMIM:242700
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Gaucher Disease
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Recurrent fractures... ORPHA:355
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... ORPHA:228119
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Pgm3-Cdg
Recurrent respiratory infections, Increased circulating IgA level, Recurrent viral infections, In... ORPHA:443811
Insulin-Resistance Syndrome Type B
Skin rash, Osteoarthritis, Nephritis, Pneumonia ORPHA:2298
Hunter-Macdonald Syndrome
Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c... OMIM:611962
Overlap Myositis
Arthritis, Subluxation of the small joints of the hand, Rheumatoid arthritis ORPHA:206572
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Joint stiffness, Osteoporosis, Arthritis, Joint swelling, Stiff interphalangeal joints ORPHA:465508
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... ORPHA:728
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... ORPHA:32960
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Tubul... ORPHA:183
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Pediatric Systemic Lupus Erythematosus
Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis ORPHA:93552
Whipple Disease
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis ORPHA:3452
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis ORPHA:92050
Polymyositis
Arthritis, Pericarditis, Chondrocalcinosis ORPHA:732
Chikungunya
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm... ORPHA:324625
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Osteogenesis Imperfecta
Osteopenia, Recurrent fractures, Protrusio acetabuli, Fractures of the long bones, Osteoarthritis... ORPHA:666
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... OMIM:301074
Immunodeficiency 21
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... OMIM:614172
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:306400
Localized Scleroderma
Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has... ORPHA:90289
Stickler Syndrome
Joint dislocation, Protrusio acetabuli, Osteoarthritis, Hip dislocation, Uveitis, Reduced bone mi... ORPHA:828
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... ORPHA:285
Farber Disease
Abnormality of the knee, Flexion contracture, Osteoporosis, Abnormality of the elbow, Arthritis, ... ORPHA:333
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... OMIM:300755
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Classical Ehlers-Danlos Syndrome
Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo... ORPHA:287
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... OMIM:618131
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... OMIM:608233
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis OMIM:161700
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas OMIM:249100
Hyper-Igd Syndrome
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Serositis OMIM:260920
Postinfectious Vasculitis
Persistent human papillomavirus infection, Abnormality of the peripheral nervous system, Increase... ORPHA:48435
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Recurrent infections, Decr... OMIM:300972
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... ORPHA:810
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Rheumatoid arthritis ORPHA:100026
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... OMIM:242840
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... ORPHA:740
Catastrophic Antiphospholipid Syndrome
Myocarditis, Arthritis ORPHA:464343
Marfan Syndrome
Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl... OMIM:154700
Mucopolysaccharidosis Type 2
Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of the large joints,... ORPHA:580
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, ... OMIM:613795
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis ORPHA:761
Acromegaly
Joint swelling, Osteoarthritis, Acne ORPHA:963
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... ORPHA:167
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Limitation of joint mobility, Arthritis ORPHA:93672
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Myocarditis, Flexion ... ORPHA:90291
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis ORPHA:91139
Giant Cell Arteritis
Arthritis, Pericarditis, Joint stiffness ORPHA:397
Dysbetalipoproteinemia
Acute pancreatitis, Gout ORPHA:412
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Arthritis, Otitis media, Recurrent sinusitis, Chronic sinusitis ORPHA:420741
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Somatomammotropinoma
Joint swelling, Osteoarthritis ORPHA:314769
Sitosterolemia 1
Arthritis OMIM:210250
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, Cholecystitis ORPHA:2331
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Decreased circulating ... ORPHA:51636
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Decreased specific anti-polysaccharide antibody level, Impaired T cell function, R... OMIM:614576
Listeriosis
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocardit... ORPHA:533
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... ORPHA:90340
Lymphatic Filariasis
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis ORPHA:2035
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Glycogen Storage Disease Ia
Osteoporosis, Pancreatitis, Gout OMIM:232200
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Fol... ORPHA:228123
Systemic Lupus Erythematosus
Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis ORPHA:536
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Eczema, Erythema nodosum, Arthritis, Panniculitis, Recurrent sinusitis, Recurrent otit... OMIM:615688
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie... OMIM:619381
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Glycogen Storage Disease Ib
Inflammation of the large intestine, Osteoporosis, Pancreatitis, Gout OMIM:232220
Myasthenia Gravis
Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis ORPHA:589
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Orthostatic hypotensio... ORPHA:66628
Wiskott-Aldrich Syndrome
Recurrent herpes, Reduced natural killer cell activity, Increased circulating IgA level, Increase... OMIM:301000
Marshall Syndrome
Recurrent otitis media, Knee osteoarthritis OMIM:154780
Mirage Syndrome
Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis OMIM:617053
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Orthostatic hypotensio... ORPHA:179494
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the large intestine, Conjunctivitis, Oti... ORPHA:906
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Severe varicella zoster infection, Increas... OMIM:618213
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Bronchiectasis, Keratoconjunctivitis sicca, Rheumatoid arthritis ORPHA:79128
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Ankle swelling, Cholangitis, Eczema, Chronic hepatitis, Art... ORPHA:3260
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... OMIM:612541
Chromomycosis
Recurrent bacterial infections ORPHA:182
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis OMIM:615846
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Arthritis ORPHA:93111
Thymoma
Rheumatoid arthritis, Myositis, Glomerulonephritis, Ulcerative colitis ORPHA:99867
Multiple Osteochondromas
Abnormality of the knee, Limitation of joint mobility, Abnormal carpal morphology, Femoroacetabul... ORPHA:321
Glycogen Storage Disease Ic
Stomatitis, Inflammation of the large intestine, Gout, Chronic pancreatitis OMIM:232240
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections ORPHA:244
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... ORPHA:3261
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubu... ORPHA:227990
Plague
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,... ORPHA:707
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent staphylococcal infections... ORPHA:2968
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Joint swelling, Sclerosis of skull base, Rheumatoid arthritis, Recurrent sinusitis, Re... OMIM:607944
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Immunodeficiency 87 And Autoimmunity
Abnormal lymphocyte proliferation, Recurrent viral infections, Sepsis, Persistent EBV viremia, Se... OMIM:619573
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, Ulcerative ... ORPHA:79259
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubu... ORPHA:227982
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Hip dislocation, Cheilitis, Genu valgum, Join... ORPHA:534
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Recurrent infections, Impaired T cell function, Abnormal lymphocyte ... ORPHA:1830
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Arthritis, Panniculitis ORPHA:51
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility... ORPHA:286
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine OMIM:181000
Shwachman-Diamond Syndrome
Recurrent viral infections, Sepsis, Recurrent bacterial infections, Bone marrow hypocellularity, ... ORPHA:811
Dermatomyositis
Myocarditis, Pericarditis, Chondrocalcinosis, Arthritis ORPHA:221
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Gaisböck Syndrome
Cholecystitis, Gout ORPHA:90041
Fabry Disease
Arthritis, Reduced bone mineral density ORPHA:324
22Q11.2 Deletion Syndrome
Acne, Seborrheic dermatitis, Multiple suture craniosynostosis, Joint hyperflexibility, Arthritis,... ORPHA:567
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis ORPHA:544482
Mucopolysaccharidosis Type 2, Severe Form
Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility ORPHA:217085
Marburg Hemorrhagic Fever
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Pancreatitis ORPHA:99826
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Mucopolysaccharidosis Type 2, Attenuated Form
Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility ORPHA:217093
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ... ORPHA:642
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Membranous nephropathy... ORPHA:49041
Chronic Graft Versus Host Disease
Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco... ORPHA:99921
Lysinuric Protein Intolerance
Recurrent bacterial infections, Increased circulating antibody level, Decreased circulating antib... ORPHA:470
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Gitelman Syndrome
Tubulointerstitial nephritis, Chondrocalcinosis, Hashimoto thyroiditis, Gout ORPHA:358
Aspartylglucosaminuria
Chronic otitis media, Arthritis, Joint stiffness ORPHA:93
Tetrasomy 9P
Joint dislocation, Arthritis, Myositis, Pericarditis ORPHA:3310
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Lacrimoauriculodentodigital Syndrome
Arthritis, Keratoconjunctivitis sicca, Keratoconjunctivitis ORPHA:2363
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Orotic Aciduria
Impaired T cell function OMIM:258900
Noonan Syndrome 1
Cubitus valgus, Synovitis OMIM:163950
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Polyclonal elevation of IgM ORPHA:171
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Aganglionic megacolon, Recurrent bacterial infections, Recurren... ORPHA:2273
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Recurrent skin infections, Camptodactyly of finger, Synovitis, Widely patent fontanel... ORPHA:3455
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Osteoporosis, Join... ORPHA:558
Choreoacanthocytosis
Arthritis ORPHA:2388
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Digeorge Syndrome
Impaired T cell function, Recurrent pneumonia, Recurrent infections, Recurrent sinusitis, Recurre... OMIM:188400

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 Mmp3

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 Mmp3.

No publications found that use IMPC mice or data for Mmp3.

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