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Gene: Nudt7 MGI:1914778

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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:
nudix hydrolase 7
Synonyms:
1300007B24Rik,  nudix (nucleoside diphosphate linked moiety X)-type motif 7,  2210404C19Rik

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 Nudt7 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 Nudt7 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
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Autoimmunity, Protrusio acetabuli, Limitation of joi... ORPHA:2619
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Glycoprotein Storage Disease
Gout OMIM:232900
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility OMIM:130020
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... OMIM:600969
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... ORPHA:93308
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue ORPHA:2762
Congenital Atransferrinemia
Arthritis ORPHA:1195
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans OMIM:165800
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... ORPHA:166002
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste... OMIM:132400
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum ORPHA:85198
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... ORPHA:564003
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Generalized joint laxi... ORPHA:750
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness ORPHA:1345
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... OMIM:607078
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Hypochondroplasia
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum ORPHA:429
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... ORPHA:99642
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... ORPHA:231
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... OMIM:208230
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... ORPHA:85435
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... ORPHA:53
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bronchiectasis, Joint hypermobility OMIM:620080
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl... OMIM:106300
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... ORPHA:85408
Epiphyseal Dysplasia, Multiple, 2
Flattened knee epiphyses, Knee osteoarthritis, Osteochondritis dissecans, Genu varum OMIM:600204
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal carpal morphology, Abnormal ... ORPHA:93351
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... OMIM:608654
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum OMIM:271650
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis ORPHA:90653
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash OMIM:609939
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand ORPHA:85169
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility ORPHA:2582
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... OMIM:601492
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal acetabulum morp... ORPHA:93311
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... ORPHA:166011
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... OMIM:620321
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist ORPHA:1657
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Sterile arthritis, Knee flexion contracture, Arthritis, Colitis,... OMIM:604416
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Autoimmunity, Glomerulonephritis, Synovitis, Arthritis, Anti-dsDNA antibody positivity... ORPHA:567544
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... ORPHA:85410
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... ORPHA:93320
Systemic Lupus Erythematosus
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... OMIM:152700
Laron Syndrome
Osteoarthritis, Abnormality of the elbow ORPHA:633
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Generalized joint laxity, Elbow f... ORPHA:93360
Vertical Talus, Congenital
Arthritis OMIM:192950
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Acne ORPHA:77296
Melorheostosis
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness ORPHA:2485
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... ORPHA:2848
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:411593
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... OMIM:130000
Enthesitis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Abnormality of the elbow, Enthesitis, Arth... ORPHA:85438
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... ORPHA:69126
Pseudoachondroplasia
Joint laxity, Limited hip extension, Genu recurvatum, Ulnar deviation of the wrist, Irregular car... OMIM:177170
Melioidosis
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth... ORPHA:31202
Immunodeficiency 61
Recurrent otitis media, Arthritis, Recurrent sinusitis OMIM:300310
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocation, Knee disloca... OMIM:618000
Desbuquois Dysplasia 1
Joint laxity, Joint dislocation, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o... OMIM:251450
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis OMIM:616414
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility OMIM:108300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Limited elbow extension, Genu varum OMIM:602111
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Arthritis, ... ORPHA:229717
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Genu varum ORPHA:93356
Familial Cold Autoinflammatory Syndrome 2
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis OMIM:611762
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets OMIM:307800
Lesch-Nyhan Syndrome
Gout ORPHA:510
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... ORPHA:1427
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis ORPHA:397596
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Conjunctivitis, Skin rash, Uveitis OMIM:120100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Rheumatoid Arthritis
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... OMIM:180300
Schnitzler Syndrome
Arthritis, Increased bone mineral density, Skin rash ORPHA:37748
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Autoimmune th... OMIM:615559
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Flexion contracture, Enlarged joints, Recurrent pneumonia OMIM:215150
Alkaptonuria
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join... ORPHA:56
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Abnormal joint morphology, Limitation of joi... ORPHA:47612
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Abnormal sacroiliac joint morphology, Cr... ORPHA:324964
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Anti-Glomerular Basement Membrane Disease
Arthritis, Autoimmunity ORPHA:375
Idiopathic Camptocormia
Abnormal inflammatory response, Osteoarthritis, Myelitis, Myositis ORPHA:1320
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... ORPHA:2137
Multiple Epiphyseal Dysplasia Type 4
Dislocation of the femoral head, Joint stiffness, Limitation of joint mobility, Flexion contractu... ORPHA:93307
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... ORPHA:93314
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Eosinophilic Fasciitis
Arthritis, Fasciitis, Myositis ORPHA:3165
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... ORPHA:85436
Familial Cold Urticaria
Arthritis, Conjunctivitis ORPHA:47045
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration OMIM:619656
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Subcorneal Pustular Dermatosis
Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:48377
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Generalized bone deminer... ORPHA:93352
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis ORPHA:85446
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... OMIM:616100
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Recurre... ORPHA:47
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Patent ductus arteriosus, Limitation of joint mob... OMIM:259100
Hemochromatosis, Type 3
Arthritis OMIM:604250
Zika Virus Disease
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, In... ORPHA:448237
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth... ORPHA:85414
Sapho Syndrome
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s... ORPHA:793
Cinca Syndrome
Patellar overgrowth, Arthritis, Skin rash, Uveitis OMIM:607115
Immunodeficiency 68
Septic arthritis, Lymphadenitis, Recurrent skin infections OMIM:612260
Combined Oxidative Phosphorylation Deficiency 53
Arthritis, Osteomyelitis, Septic arthritis OMIM:619423
Marshall Syndrome
Osteoarthritis, Genu valgum ORPHA:560
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis ORPHA:342
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Rheumatoid factor positive, Pneumonia, Glomerulone... ORPHA:1304
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv... OMIM:142680
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Recurrent pneumonia, Autoimmunity, Eczema OMIM:617780
Lyme Disease
Arthritis, Infectious encephalitis, Joint swelling, Uveitis ORPHA:91546
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... ORPHA:575
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Alpha-Mannosidosis
Chronic otitis media, Arthritis, Synostosis of joints ORPHA:61
Graft Versus Host Disease
Dupuytren contracture, Fasciitis, Myositis, Acute hepatitis, Limited elbow movement, Maculopapula... ORPHA:39812
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis OMIM:614204
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Uveiti... OMIM:186580
Loeys-Dietz Syndrome 5
Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture... OMIM:615582
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, J... ORPHA:275
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Insulin-Resistance Syndrome Type B
Skin rash, Autoimmunity, Pneumonia, Antinuclear antibody positivity, Osteoarthritis, Systemic lup... ORPHA:2298
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Hepatitis, Arthritis, Erythroderma, Anti... OMIM:304790
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia OMIM:613328
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... OMIM:610984
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Septic art... ORPHA:449280
Pediatric Systemic Lupus Erythematosus
Myositis, Antiphospholipid antibody positivity, Skin rash, Antinuclear antibody positivity, Disco... ORPHA:93552
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... ORPHA:206572
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Erythema... OMIM:614700
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... ORPHA:2614
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Pustul... ORPHA:77297
Takayasu Arteritis
Arthritis, Increased inflammatory response, Inflammatory abnormality of the eye ORPHA:3287
Adult-Onset Still Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Arthritis, Joint swelling ORPHA:829
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Adiposis Dolorosa
Arthritis, Recurrent skin infections, Autoimmunity ORPHA:36397
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Episcleritis, Skin rash, Autoimmunity, Uveitis, Arthritis, Conjunctivitis, Inf... ORPHA:36412
Alkaptonuria
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... OMIM:203500
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... ORPHA:100026
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Autoimmunity, Gastritis, Joint stiffness, Myocarditis, Osteoly... ORPHA:809
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Gout ORPHA:411543
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Myocarditis, Syste... ORPHA:464343
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... ORPHA:1855
Wilson Disease
Osteomalacia, Atypical or prolonged hepatitis, Osteoarthritis, Osteoporosis, Chondrocalcinosis, J... OMIM:277900
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... ORPHA:284984
Hunter-Macdonald Syndrome
Patent ductus arteriosus, Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contract... OMIM:611962
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Peritonitis, Limitation of joint mobility, Recurrent aphthous stomatitis ORPHA:343
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis OMIM:109650
Wilson Disease
Hepatitis, Arthritis, Joint swelling, Acute hepatitis, Pathologic fracture ORPHA:905
Gaucher Disease
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Recurrent fractures... ORPHA:355
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Severe Hemophilia A
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join... ORPHA:169802
Rheumatic Fever
Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis ORPHA:3099
Moderate Hemophilia A
Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Joint swelling, Joint hemo... ORPHA:169805
Reynolds Syndrome
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis ORPHA:779
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Autoimmunity, Osteolysis ORPHA:220393
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Osteomyelitis, Myositis, Pneumonia, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma OMIM:619510
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthritis, Inflammation of the... ORPHA:29207
Dowling-Degos Disease
Arthritis, Acne inversa ORPHA:79145
Cryoglobulinemic Vasculitis
Arthritis, Keratoconjunctivitis sicca, Viral hepatitis ORPHA:91138
Osteogenesis Imperfecta
Osteopenia, Recurrent fractures, Protrusio acetabuli, Fractures of the long bones, Osteoarthritis... ORPHA:666
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... ORPHA:331235
Myasthenia Gravis
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... ORPHA:589
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi... ORPHA:2796
Generalized Pustular Psoriasis
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma ORPHA:247353
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Myocarditis, Endoc... ORPHA:183
Stickler Syndrome
Joint dislocation, Protrusio acetabuli, Osteoarthritis, Hip dislocation, Uveitis, Reduced bone mi... ORPHA:828
Hyperuricemia, Hprt-Related
Podagra OMIM:300323
Polymyositis
Arthritis, Pericarditis, Autoimmunity, Chondrocalcinosis ORPHA:732
Fusariosis
Fasciitis, Sinusitis, Osteomyelitis, Myositis, Maculopapular exanthema, Pneumonia, Keratitis, Per... ORPHA:228119
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... ORPHA:285
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Joint stiffness, Osteoporosis, Arthritis, Joint swelling, Stiff interphalangeal joints ORPHA:465508
Localized Scleroderma
Fasciitis, Autoimmunity, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finge... ORPHA:90289
Glycogen Storage Disease Vii
Gout OMIM:232800
Classical Ehlers-Danlos Syndrome
Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo... ORPHA:287
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Systemic Lupus Erythematosus
Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash, Anti-La/SS-B antibody posit... ORPHA:536
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... ORPHA:728
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... ORPHA:227990
Whipple Disease
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis ORPHA:3452
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... ORPHA:32960
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... ORPHA:740
Thymoma
Myositis, Autoimmunity, Glomerulonephritis, Anti-acetylcholine receptor antibody positivity, Ulce... ORPHA:99867
Marfan Syndrome
Genu recurvatum, Protrusio acetabuli, Premature osteoarthritis, Flexion contracture, Camptodactyl... OMIM:154700
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the esophagus, ... OMIM:613795
Chikungunya
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm... ORPHA:324625
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis ORPHA:92050
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... ORPHA:227982
Farber Disease
Abnormality of the knee, Flexion contracture, Osteoporosis, Abnormality of the elbow, Arthritis, ... ORPHA:333
Mucopolysaccharidosis Type 2
Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of the large joints,... ORPHA:580
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Arthritis, Chromosomal breakage induced by ionizing radiation, Ot... ORPHA:420741
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... ORPHA:3261
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Antinuclear antibody ... ORPHA:90291
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... OMIM:607944
Acromegaly
Joint swelling, Osteoarthritis, Acne ORPHA:963
Lymphoid Interstitial Pneumonia
Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... ORPHA:79128
Macrophage Activation Syndrome
Increased inflammatory response, Autoimmunity, Hepatitis, Systemic lupus erythematosus, Juvenile ... ORPHA:158061
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Somatomammotropinoma
Joint swelling, Osteoarthritis ORPHA:314769
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt... ORPHA:49041
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... OMIM:301074
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... OMIM:300755
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Autoimmunity, Limitation of joint mobility, Arthritis ORPHA:93672
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... ORPHA:91139
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... ORPHA:810
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Hyper-Igd Syndrome
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Serositis OMIM:260920
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas OMIM:249100
Giant Cell Arteritis
Arthritis, Pericarditis, Joint stiffness ORPHA:397
Lymphatic Filariasis
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis ORPHA:2035
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Eczema, Erythema nodosum, Arthritis, Panniculitis, Recurrent sinusitis, Recurrent otit... OMIM:615688
Marshall Syndrome
Recurrent otitis media, Knee osteoarthritis OMIM:154780
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Pustule, Orchitis, Arthritis, Infectious encephalitis ORPHA:761
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Psoriasiform dermatitis, Arthritis, Chronic oral candidiasis, Recurrent aspiration pn... ORPHA:221139
Listeriosis
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocardit... ORPHA:533
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis OMIM:161700
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Art... ORPHA:228123
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, Cholecystitis ORPHA:2331
Dysbetalipoproteinemia
Acute pancreatitis, Gout ORPHA:412
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Autoimmunity, Keratitis, Arthritis, Inflammation of the large intestine, Conju... ORPHA:906
Sitosterolemia 1
Arthritis OMIM:210250
Glycogen Storage Disease Ia
Osteoporosis, Pancreatitis, Gout OMIM:232200
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie... OMIM:619381
Glycogen Storage Disease Ib
Inflammation of the large intestine, Osteoporosis, Pancreatitis, Gout OMIM:232220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Ankle swelling, Cholangitis, Eczema, Chronic hepatitis, Art... ORPHA:3260
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... ORPHA:90340
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis OMIM:615846
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility... ORPHA:286
Multiple Osteochondromas
Abnormality of the knee, Limitation of joint mobility, Abnormal carpal morphology, Femoroacetabul... ORPHA:321
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Arthritis ORPHA:93111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, Ulcerative ... ORPHA:79259
Plague
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,... ORPHA:707
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Hip dislocation, Cheilitis, Genu valgum, Join... ORPHA:534
Glycogen Storage Disease Ic
Stomatitis, Inflammation of the large intestine, Gout, Chronic pancreatitis OMIM:232240
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Autoimmunity, Chilblains, Arthritis, Panniculitis ORPHA:51
Dermatomyositis
Pericarditis, Autoimmunity, Myocarditis, Arthritis, Chondrocalcinosis ORPHA:221
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
22Q11.2 Deletion Syndrome
Acne, Autoimmunity, Seborrheic dermatitis, Patent ductus arteriosus, Multiple suture craniosynost... ORPHA:567
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine OMIM:181000
Fabry Disease
Arthritis, Reduced bone mineral density ORPHA:324
Mucopolysaccharidosis Type 2, Severe Form
Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility ORPHA:217093
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis ORPHA:544482
Marburg Hemorrhagic Fever
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Pancreatitis ORPHA:99826
Gaisböck Syndrome
Cholecystitis, Gout ORPHA:90041
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ... ORPHA:642
Chronic Graft Versus Host Disease
Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco... ORPHA:99921
Tetrasomy 9P
Joint dislocation, Myositis, Pericarditis, Systemic lupus erythematosus, Arthritis ORPHA:3310
Gitelman Syndrome
Tubulointerstitial nephritis, Chondrocalcinosis, Hashimoto thyroiditis, Gout ORPHA:358
Lacrimoauriculodentodigital Syndrome
Patent ductus arteriosus, Arthritis, Keratoconjunctivitis sicca, Keratoconjunctivitis ORPHA:2363
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Aspartylglucosaminuria
Chronic otitis media, Arthritis, Joint stiffness ORPHA:93
Ramon Syndrome
Juvenile rheumatoid arthritis OMIM:266270
Noonan Syndrome 1
Cubitus valgus, Patent ductus arteriosus, Synovitis OMIM:163950
Choreoacanthocytosis
Arthritis ORPHA:2388
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Recurrent skin infections, Camptodactyly of finger, Synovitis, Widely patent fontanel... ORPHA:3455

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 Nudt7

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 Nudt7.

No publications found that use IMPC mice or data for Nudt7.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Nudt7tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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