Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... OMIM:607850
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Kienbock Disease
Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility ORPHA:97332
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Angel-Shaped Phalangoepiphyseal Dysplasia
Premature osteoarthritis, Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed os... OMIM:105835
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Brachydactylous Dwarfism, Mseleni Type
Hip osteoarthritis, Knee osteoarthritis, Osteopenia, Abnormality of the wrist, Joint subluxation,... ORPHA:2619
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Glycoprotein Storage Disease
Gout OMIM:232900
Osteoarthritis With Mild Chondrodysplasia
Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis OMIM:604864
Peripheral Dysostosis
Joint stiffness, Osteoarthritis ORPHA:1795
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600
Familial Avascular Necrosis Of Femoral Head
Limited hip movement, Hip osteoarthritis ORPHA:86820
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Jo... ORPHA:1416
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Osteoarthritis, Joint dislocation, Joint laxity OMIM:130020
Chondrocalcinosis Due To Apatite Crystal Deposition
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Arthropathy, Chon... OMIM:118610
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae ORPHA:50809
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Epiphyseal Dysplasia, Multiple, 3
Abnormal hip joint morphology, Limited knee extension, Delayed epiphyseal ossification, Limited e... OMIM:600969
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Osteocho... ORPHA:563991
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Genu varum, Delayed epiphyseal ossification, Genu valgum, Finger ... ORPHA:93308
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific... ORPHA:2114
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Epiphyseal Dysplasia, Multiple, 2
Flattened knee epiphyses, Knee osteoarthritis, Genu varum OMIM:600204
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Cranio-Osteoarthropathy
Eczema, Abnormality of the knee, Arthritis, Joint stiffness, Osteoarthritis, Joint swelling ORPHA:1525
Mueller-Weiss Syndrome
Sclerosis of foot bone, Chondritis, Limitation of movement at ankles, Knee osteoarthritis, Arthri... ORPHA:566943
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis Dissecans, Osteoarthritis, Hip osteoarthritis OMIM:165800
Progressive Osseous Heteroplasia
Osteoarthritis, Ectopic ossification in muscle tissue, Limitation of joint mobility ORPHA:2762
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Congenital Atransferrinemia
Arthritis ORPHA:1195
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Epiphyseal Dysplasia, Multiple, 6
Osteoarthritis, Abnormality of the knee OMIM:614135
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali... OMIM:208250
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Osteopenia, Joint su... OMIM:130060
Hemophilia A
Joint hemorrhage, Osteoarthritis OMIM:306700
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Genu varum, Genu valgum, Joint stiffness, Recurrent fractures, Osteoarthritis ORPHA:1822
Epiphyseal Dysplasia, Multiple, 1
Hip osteoarthritis, Generalized joint laxity, Delayed epiphyseal ossification, Genu valgum, Limit... OMIM:132400
Pseudoachondroplasia
Limited hip extension, Genu varum, Increased laxity of ankles, Irregular acetabular roof, Osteoar... ORPHA:750
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Genu valgum, Abno... ORPHA:166002
Dysspondyloenchondromatosis
Generalized joint laxity, Joint dislocation, Genu valgum, Enlarged joints, Osteoarthritis ORPHA:85198
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Chondritis, Osteochondrosis, Arthritis, Joint stiffness, Progressive join... ORPHA:564003
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis ORPHA:1345
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Spondyloepiphyseal Dysplasia, Nishimura Type
Osteoarthritis, Delayed epiphyseal ossification OMIM:618618
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed tarsal ossification, Delayed ossification of carpal bones, Genu... OMIM:607078
Widow'S Peak Syndrome
Arthralgia/arthritis, Recurrent patellar dislocation, Hip osteoarthritis OMIM:314570
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Hypochondroplasia
Osteoarthritis, Joint hyperflexibility, Genu varum, Abnormality of the elbow ORPHA:429
Hemophilia B
Joint hemorrhage, Osteoarthritis OMIM:306900
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Arthritis OMIM:300310
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Hip contracture, Abnormality of the knee, Limited hip movement, Hip subluxati... ORPHA:99642
Progressive Pseudorheumatoid Dysplasia
Genu varum, Osteoporosis, Enlarged interphalangeal joints, Joint contracture of the hand, Camptod... OMIM:208230
Dracunculiasis
Recurrent cutaneous abscess formation, Arthritis, Skin rash, Flexion contracture, Limitation of j... ORPHA:231
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Polyarticular arthritis, Synovitis, Rheumatoid factor positive, Symmetric polyarthritis, Reduced ... ORPHA:85435
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Ankle swelling, Hip osteoarthriti... ORPHA:85408
Hemophilia A With Vascular Abnormality
Joint hemorrhage, Osteoarthritis OMIM:306800
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Joint dislocation, Arthritis, Genu valgum, Osteomyelitis, Mandibular ... ORPHA:53
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal joint morphology, Osteoporosis, Synostosis of carpal bones, Genu valgum, Limitation of j... ORPHA:93351
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limited elbow extension, Capitate-hamate fusion, Genu valgum OMIM:271650
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand ORPHA:85169
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Stickler Syndrome Type 1
Osteoarthritis, Joint hyperflexibility ORPHA:90653
Ehlers-Danlos Syndrome, Classic-Like, 2
Knee dislocation, Osteoporosis, Shoulder dislocation, Hip dislocation, Osteoarthritis OMIM:618000
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Abnormal hip joint morphology, Genu valgum, Limitation of joint m... ORPHA:166011
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility ORPHA:2582
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Uveitis, Rheumatoid arthr... ORPHA:85410
Multiple Epiphyseal Dysplasia Type 5
Abnormal acetabulum morphology, Genu varum, Abnormal hip joint morphology, Delayed proximal femor... ORPHA:93311
Ulnar Hemimelia
Limited elbow flexion, Abnormal calcification of the carpal bones, Abnormality of the humeroulnar... ORPHA:93320
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Abnormality of the wrist, Osteoarthritis, Osteolysis ORPHA:1657
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Knee flexion contracture, Colitis, Elbow flexion... OMIM:604416
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Systemic lupus erythematosus, Arthritis, Malar rash, An... OMIM:152700
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Systemic lupus erythematosus, Arthritis, Malar rash, Antinuclear antibody positivity OMIM:609939
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Arthritis, Otitis media, Purulent rhinitis, Conjunctivitis OMIM:601457
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Laron Syndrome
Osteoarthritis, Abnormality of the elbow ORPHA:633
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Laryngotracheomalacia, Multiple joint dislocation, Generalized joint laxity, Abnormal... ORPHA:93360
Melorheostosis
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness ORPHA:2485
Vertical Talus, Congenital
Arthritis OMIM:192950
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis ORPHA:567544
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis, Limitation of joint mobility ORPHA:399180
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Systemic lupus erythematosus, Rheumatoid arthritis, Antinuclear antibody positivity OMIM:178610
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Hip osteoarthritis, Abnormality of the elbow, Oligoarthritis, Knee... ORPHA:85438
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... ORPHA:93284
Desbuquois Dysplasia 1
Genu varum, Osteoporosis, Radioulnar dislocation, Joint dislocation, Advanced ossification of car... OMIM:251450
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Limitation ... ORPHA:69126
Pseudoachondroplasia
Limited hip extension, Genu varum, Irregular carpal bones, Delayed epiphyseal ossification, Genu ... OMIM:177170
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Acne ORPHA:77296
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:411593
Melioidosis
Pneumonia, Prostatitis, Hepatitis, Septic arthritis, Parotitis, Acute infectious pneumonia, Osteo... ORPHA:31202
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Hyperextensibility of the knee, Joint dislocation, Joint... OMIM:130000
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Arthritis, Joint swelling, Ulnar deviation of the wrist, ... OMIM:228000
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Antinuclear antibody positivity, Arthritis OMIM:616414
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Genu varum ORPHA:93356
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Genu varum, Limited elbow extension OMIM:602111
Sjogren Syndrome
Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Otospondylomegaepiphyseal Dysplasia
Abnormal joint morphology, Abnormally ossified vertebrae, Limitation of joint mobility, Enlarged ... ORPHA:1427
Isolated Agammaglobulinemia
Sinusitis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis medi... ORPHA:229717
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Lesch-Nyhan Syndrome
Gout ORPHA:510
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Uveitis, Arthritis, Skin rash OMIM:120100
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Hypophosphatemic rickets OMIM:307800
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Autoimmunity, Abnormal joint morphology, Abnormal sacroiliac joint morph... ORPHA:92
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash OMIM:611762
Wilson Disease
Chondrocalcinosis, Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis, Atypical or p... OMIM:277900
Pfapa Syndrome
Infectious encephalitis, Arthritis ORPHA:42642
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Genu varum, Delayed epiphyseal ossificati... ORPHA:93314
Rheumatoid Arthritis
Polyarticular arthritis, Rheumatoid factor positive, Rheumatoid arthritis, Anti-citrullinated pro... OMIM:180300
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Recurrent pneumonia, Flexion contracture, Enlarged joints OMIM:215150
Stickler Syndrome, Type I
Arthropathy, Osteoarthritis OMIM:108300
Diverticulosis, Small-Intestinal
Rheumatoid arthritis, Thyroiditis, Ulcerative colitis OMIM:223320
Alkaptonuria
Prostatitis, Joint dislocation, Arthritis, Reduced bone mineral density, Joint stiffness, Osteoar... ORPHA:56
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Membranous nephropathy, Recurrent otitis media, Anticardiolipin IgG antibody positi... OMIM:615559
Schnitzler Syndrome
Arthritis, Increased bone mineral density, Skin rash ORPHA:37748
Felty Syndrome
Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Synovitis, Abnormal joint morphology, Chroni... ORPHA:47612
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteomyelitis, Recurrent s... ORPHA:33110
Multiple Epiphyseal Dysplasia Type 4
Elbow flexion contracture, Metatarsal synostosis, Genu valgum, Dislocation of the femoral head, C... ORPHA:93307
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal sacroiliac joint morpholog... ORPHA:324964
Psoriasis-Related Juvenile Idiopathic Arthritis
Polyarticular arthritis, Psoriasiform dermatitis, Autoimmunity, Abnormality of the knee, Oligoart... ORPHA:85436
Gaucher Disease Type 1
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis ORPHA:77259
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Arthritis ORPHA:375
Eosinophilic Fasciitis
Fasciitis, Arthritis, Myositis ORPHA:3165
Idiopathic Camptocormia
Abnormal inflammatory response, Osteoarthritis, Myositis, Myelitis ORPHA:1320
Autoimmune Hepatitis
Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil antibody positivity, ... ORPHA:2137
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Familial Cold Urticaria
Arthritis, Conjunctivitis ORPHA:47045
Vexas Syndrome
Inflammatory abnormality of the skin, Nasal chondritis, Chondritis of pinna, Neutrophilic infiltr... OMIM:301054
Subcorneal Pustular Dermatosis
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis, Pustule ORPHA:48377
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Eczema, Recurrent pneumonia, Septic arthritis OMIM:617780
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis ORPHA:85446
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash OMIM:617321
Trichorhinophalangeal Syndrome, Type I
Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand, Osteopenia OMIM:190350
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Generalized bone demineralization, Delayed epiphyseal ossification, Premature osteoar... ORPHA:93352
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease, Autoimmune thrombocy... OMIM:616100
X-Linked Agammaglobulinemia
Sinusitis, Autoimmunity, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, ... ORPHA:47
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Abnormal sacroi... ORPHA:793
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pericarditis, Anterior uveitis, Juvenile rheumatoid arthritis, Skin rash, Joint swe... ORPHA:85414
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Seborrheic dermatitis, Osteoporosis, Wormian bones, Arthritis, Osteopenia,... OMIM:259100
Cinca Syndrome
Arthritis, Patellar overgrowth, Uveitis, Skin rash OMIM:607115
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Hemochromatosis, Type 3
Arthritis OMIM:604250
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Skin rash, Orchitis, Osteoarthritis, Erysipelas ORPHA:342
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent skin infections, Glomerul... OMIM:610984
Brucellosis
Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Hip osteoarthritis, ... ORPHA:1304
Combined Oxidative Phosphorylation Deficiency 53
Arthritis, Septic arthritis, Osteomyelitis OMIM:619423
Lyme Disease
Joint swelling, Uveitis, Infectious encephalitis, Arthritis ORPHA:91546
Blau Syndrome
Eczema, Pericarditis, Synovitis, Flexion contracture of toe, Arthritis, Nongranulomatous uveitis,... OMIM:186580
Periodic Fever, Familial, Autosomal Dominant
Polyarticular arthritis, Myositis, Oligoarthritis, Maculopapular exanthema, Skin rash, Erysipelas... OMIM:142680
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... ORPHA:31205
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Craniosynostosis, Arthritis, Osteopoikilosis, Flexion contracture, Jo... ORPHA:1306
Psoriasis 14, Pustular
Cholangitis, Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis OMIM:614204
Marshall Syndrome
Osteoarthritis, Genu valgum ORPHA:560
Alpha-Mannosidosis
Chronic otitis media, Arthritis, Synostosis of joints ORPHA:61
Insulin-Resistance Syndrome Type B
Autoimmunity, Pneumonia, Nephritis, Systemic lupus erythematosus, Skin rash, Osteoarthritis, Anti... ORPHA:2298
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Chronic gastritis, Arthritis, Colitis OMIM:608809
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Chronic oral candidiasis, Otitis media, Juvenile rheumatoid arthritis, Skin rash, H... ORPHA:275
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... ORPHA:39812
Muckle-Wells Syndrome
Episcleritis, Arthritis, Uveitis, Skin rash, Camptodactyly of finger, Recurrent aphthous stomatit... ORPHA:575
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... OMIM:300755
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Congenital finger flexion contractures, Joint hypermobility, Eosinoph... OMIM:615582
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Erythroderma, Hepatitis, Arthritis,... OMIM:304790
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Scedosporiosis
Sinusitis, Arthralgia/arthritis, Pericarditis, Pneumonia, Endocarditis, Septic arthritis, Osteomy... ORPHA:449280
Pediatric Systemic Lupus Erythematosus
Myositis, Antineutrophil antibody positivity, Discoid lupus rash, Nephritis, Systemic lupus eryth... ORPHA:93552
Overlap Myositis
Autoimmunity, Systemic lupus erythematosus, Arthritis, Subluxation of the small joints of the han... ORPHA:206572
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Osteopenia OMIM:613328
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Autoimmunity, Pneumon... ORPHA:183675
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of t... ORPHA:371428
Adult-Onset Still Disease
Myocarditis, Pericarditis, Hepatitis, Arthritis, Skin rash, Joint swelling ORPHA:829
Nail-Patella Syndrome
Abnormality of the knee, Cubitus valgus, Reduced bone mineral density, Contracture of the distal ... ORPHA:2614
Takayasu Arteritis
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis ORPHA:3287
Glycogen Storage Disease Vii
Gout OMIM:232800
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Increas... ORPHA:77297
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Episcleritis, Joint dislocation, Arthritis, Uveitis, Inflammatory abnormality of th... ORPHA:36412
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Pneumonia, Bronchiectasis, Recurrent otitis media, Arthritis... OMIM:614700
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Zika Virus Disease
Wrist swelling, Infectious encephalitis, Ankle swelling, Arthritis, Skin rash, Maculopapular exan... ORPHA:448237
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Behcet Syndrome
Epididymitis, Arthritis, Iridocyclitis, Iritis, Erythema nodosum OMIM:109650
Microscopic Polyangiitis
Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Peritonitis, Arthritis, Pancreatitis, Increa... ORPHA:727
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Autoimmunity, Pericarditis, Myositis, Arthritis, Gastrit... ORPHA:809
Spondyloenchondrodysplasia
Autoimmunity, Pneumonia, Hepatitis, Systemic lupus erythematosus, Arthritis, Autoimmune thrombocy... ORPHA:1855
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... OMIM:307200
Alkaptonuria
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Limited hip movement, Limited shou... OMIM:203500
Adiposis Dolorosa
Autoimmunity, Recurrent skin infections, Arthritis ORPHA:36397
Gaucher Disease
Hepatitis, Joint dislocation, Arthrogryposis multiplex congenita, Osteopenia, Osteomyelitis, Incr... ORPHA:355
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Arthritis, Limitation of joint mobility, Peritonitis ORPHA:343
Hunter-Macdonald Syndrome
Premature osteoarthritis, Cubitus valgus, Joint contracture of the hand, Patent ductus arteriosus... OMIM:611962
Wilson Disease
Hepatitis, Arthritis, Acute hepatitis, Pathologic fracture, Joint swelling ORPHA:905
Severe Hemophilia A
Limb joint contracture, Synovitis, Joint hemorrhage, Limitation of joint mobility, Progressive jo... ORPHA:169802
Gamma-Heavy Chain Disease
Autoimmunity, Autoimmune thrombocytopenia, Rheumatoid arthritis, Autoimmune hemolytic anemia, Ski... ORPHA:100026
Aneurysm-Osteoarthritis Syndrome
Knee osteoarthritis, Osteoporosis, Intervertebral disc degeneration, Patent ductus arteriosus, Os... ORPHA:284984
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Panniculitis, Arthritis, Skin rash, Flexion contracture, Conjunctivitis OMIM:617591
Rheumatic Fever
Sinusitis, Myocarditis, Pericarditis, Endocarditis, Arthritis ORPHA:3099
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis ORPHA:411543
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Catastrophic Antiphospholipid Syndrome
Myocarditis, Anti-beta 2 glycoprotein I antibody positivity, Systemic lupus erythematosus, Antica... ORPHA:464343
Reynolds Syndrome
Arthritis, Infectious encephalitis, Skin rash, Keratoconjunctivitis sicca ORPHA:779
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Enthesitis,... ORPHA:29207
Moderate Hemophilia A
Synovitis, Hip contracture, Joint hemorrhage, Limitation of joint mobility, Arthropathy, Joint sw... ORPHA:169805
Scleroderma
Myocarditis, Autoimmunity, Pericarditis, Episcleritis, Fasciitis, Anti-centromere antibody positi... ORPHA:801
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Fasciitis, Hep... ORPHA:36234
Myasthenia Gravis
Anti-acetylcholine receptor antibody positivity, Myositis, Hepatitis, Systemic lupus erythematosu... ORPHA:589
Selective Igm Deficiency
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fa... ORPHA:331235
Diffuse Cutaneous Systemic Sclerosis
Autoimmunity, Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Osteogenesis Imperfecta
Fractures of the long bones, Increased susceptibility to fractures, Osteoporosis, Wormian bones, ... ORPHA:666
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma OMIM:619510
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Viral hepatitis, Arthritis ORPHA:91138
Dowling-Degos Disease
Acne inversa, Arthritis ORPHA:79145
Stickler Syndrome
Chronic otitis media, Joint dislocation, Reduced bone mineral density, Genu valgum, Hip dislocati... ORPHA:828
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Arthritis, Joint stiffness, Stiff interphalangeal joints, Arthropathy, Joint swelling ORPHA:465508
Pachydermoperiostosis
Eczematoid dermatitis, Genu varum, Seborrheic dermatitis, Osteoporosis, Acne, Arthritis, Osteomye... ORPHA:2796
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Autoimmunity, Tubulointerstitial nephritis, Endocarditis, Myositis, Arthr... ORPHA:183
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Joint dislocation, Wormian bones, Abnormality of the wrist, Hip dislo... ORPHA:285
Polymyositis
Autoimmunity, Chondrocalcinosis, Pericarditis, Arthritis ORPHA:732
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Hyperuricemia, Hprt-Related
Podagra OMIM:300323
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Fusariosis
Sinusitis, Pneumonia, Bronchiectasis, Peritonitis, Myositis, Fasciitis, Panniculitis, Arthritis, ... ORPHA:228119
Localized Scleroderma
Autoimmunity, Sclerosis of finger phalanx, Fasciitis, Esophagitis, Arthritis, Uveitis, Flexion co... ORPHA:90289
Classical Ehlers-Danlos Syndrome
Generalized joint laxity, Shoulder dislocation, Dislocated radial head, Osteopenia, Joint swellin... ORPHA:287
Relapsing Polychondritis
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hepatitis, Arthritis, K... ORPHA:728
Whipple Disease
Myocarditis, Infectious encephalitis, Pericarditis, Myositis, Arthritis, Uveitis ORPHA:3452
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Osteolytic defects of the distal phalanges of the hand, Reduced... ORPHA:740
Chikungunya
Infectious encephalitis, Synovitis, Arthritis, Ankle joint effusion, Joint swelling, Osteolysis, ... ORPHA:324625
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Peritonitis, Myositis, Abnormal sacroiliac joint morphology, Fasciitis, Arthritis, ... ORPHA:32960
Marfan Syndrome
Genu recurvatum, Joint hypermobility, Protrusio acetabuli, Limited elbow extension, Camptodactyly... OMIM:154700
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Knee osteoarthritis, Craniosynostosis, Intervertebral disc degeneration, Pate... OMIM:613795
Thymoma
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Myositis, Systemic lupus erythemat... ORPHA:99867
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Hepat... ORPHA:227990
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Abnormal epiphyseal ossification, Contractures of the large joints, Limitatio... ORPHA:580
Acromegaly
Osteoarthritis, Acne, Joint swelling ORPHA:963
Kid Syndrome
Keratoconjunctivitis sicca, Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess fo... ORPHA:477
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Recurrent otitis media, Systemic lupus erythematosus, Autoimmune thrombo... OMIM:607944
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Hepat... ORPHA:227982
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Glomerulonephritis, Neutropenia in presence of anti-neutropil antibodies, Antineutr... ORPHA:3261
Systemic Sclerosis
Myocarditis, Pericarditis, Anti-centromere antibody positivity, Arthritis, Osteomyelitis, Joint s... ORPHA:90291
Somatomammotropinoma
Osteoarthritis, Joint swelling ORPHA:314769
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis ORPHA:92050
Macrophage Activation Syndrome
Autoimmunity, Systemic lupus erythematosus, Hepatitis, Increased inflammatory response, Juvenile ... ORPHA:158061
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Autoimmunity, Eczema, Bronchiectasis, Autoimmune antibody positivity,... ORPHA:79128
Sitosterolemia 1
Arthritis OMIM:210250
Farber Disease
Abnormality of the knee, Abnormality of the elbow, Osteoporosis, Arthritis, Abnormality of the wr... ORPHA:333
X-Linked Hypophosphatemia
Genu varum, Sacroiliac joint synovitis, Rickets, Generalized osteosclerosis, Craniosynostosis, Ar... ORPHA:89936
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... ORPHA:3243
Lymphatic Filariasis
Ankle swelling, Lymphadenitis, Knee osteoarthritis, Epididymitis, Orchitis, Glomerulonephritis ORPHA:2035
Simple Cryoglobulinemia
Pericarditis, Nephritis, Arthritis, Rheumatoid factor positive, Membranoproliferative glomerulone... ORPHA:91139
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Deep dermal perivascular in... ORPHA:49041
Juvenile Dermatomyositis
Autoimmunity, Pericarditis, Myositis, Arthritis, Skin rash, Limitation of joint mobility ORPHA:93672
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Arthritis, Rheumatoid fa... ORPHA:48435
Shigellosis
Myocarditis, Pneumonia, Peritonitis, Acute colitis, Arthritis, Uveitis, Ulcerative colitis, Conju... ORPHA:810
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Crohn's disease, Orchitis, Erysipelas OMIM:249100
Hyper-Igd Syndrome
Lymphadenitis, Chronic oral candidiasis, Arthritis, Serositis, Skin rash OMIM:260920
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Panniculitis, Recurrent otitis media, Arthritis, Skin rash, Recurrent sinusitis, Lupus an... OMIM:615688
Giant Cell Arteritis
Joint stiffness, Pericarditis, Arthritis ORPHA:397
Immunoglobulin A Vasculitis
Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash, Orchitis ORPHA:761
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Psoriasiform dermatitis, Recurrent aspiration pneumonia, Chronic oral candidiasis, Arthritis, Ost... ORPHA:221139
Listeriosis
Myocarditis, Stiff neck, Infectious encephalitis, Pericarditis, Pustule, Pneumonia, Endocarditis,... ORPHA:533
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Rheumatoid arthritis, Iritis OMIM:108050
Hereditary Spherocytosis
Gout, Maculopapular exanthema ORPHA:822
Behçet Disease
Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... ORPHA:117
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Osteolytic defects of the phalanges of the hand, Arthritis, Foot acroosteolysis OMIM:161700
Riddle Syndrome
Pneumonia, Chronic sinusitis, Arthritis, Otitis media, Recurrent pneumonia, Recurrent sinusitis ORPHA:420741
Coccidioidomycosis
Pericarditis, Folliculitis, Pneumonia, Peritonitis, Panniculitis, Arthritis, Pancreatitis, Osteom... ORPHA:228123
Glycogen Storage Disease Ia
Osteoporosis, Gout, Pancreatitis OMIM:232200
Dysbetalipoproteinemia
Gout, Acute pancreatitis ORPHA:412
Wiskott-Aldrich Syndrome
Sinusitis, Autoimmunity, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthr... ORPHA:906
Glycogen Storage Disease Ib
Osteoporosis, Gout, Pancreatitis OMIM:232220
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... ORPHA:289390
Kawasaki Disease
Myocarditis, Pericarditis, Cheilitis, Hepatitis, Arthritis, Skin rash, Cholecystitis, Conjunctivitis ORPHA:2331
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Ankle swelling, Arthriti... ORPHA:3260
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Periodontitis, Osteoarthritis, Joint hyperflexibil... ORPHA:286
Blau Syndrome
Abnormal inflammatory response, Polyarticular arthritis, Pericarditis, Synovitis, Posterior uveit... ORPHA:90340
Multiple Osteochondromas
Abnormality of the carpal bones, Abnormality of the knee, Femoroacetabular impingement, Arthritis... ORPHA:321
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Bronchiectasis, Hepatitis, Recurrent otitis media, Arthritis, Osteomyelitis, Gastritis... OMIM:619381
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Increased susceptibility to fractures, Osteoporosis, Gout, P... ORPHA:79259
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Arthritis, Joint hyperflexibility ORPHA:93111
Aicardi-Goutières Syndrome
Autoimmunity, Myositis, Panniculitis, Arthritis, Multiple joint contractures, Chilblains ORPHA:51
Plague
Inflammation of the large intestine, Abnormality of the elbow, Endocarditis, Lymphadenitis, Chapp... ORPHA:707
Dermatomyositis
Myocarditis, Autoimmunity, Chondrocalcinosis, Pericarditis, Arthritis ORPHA:221
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Arthritis, Genu valgum, Periodontitis, Hip dislocation, Recurren... ORPHA:534
22Q11.2 Deletion Syndrome
Autoimmunity, Chronic otitis media, Seborrheic dermatitis, Acne, Arthritis, Patent ductus arterio... ORPHA:567
Glycogen Storage Disease Ic
Chronic pancreatitis, Gout OMIM:232240
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Bronchiectasis, Arthritis, Iridocyclitis, Uveitis OMIM:181000
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Fasciitis, Neuropathic arthropathy, Septic arthritis, Osteomyelit... ORPHA:642
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger ORPHA:217093
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pneumonia, Acute colitis, Pancreatitis, Septic arthritis ORPHA:544482
Marburg Hemorrhagic Fever
Pericarditis, Arthritis, Pancreatitis, Uveitis, Maculopapular exanthema, Skin rash, Orchitis ORPHA:99826
Fabry Disease
Arthritis, Reduced bone mineral density ORPHA:324
Gaisböck Syndrome
Gout, Cholecystitis ORPHA:90041
Chronic Graft Versus Host Disease
Keratoconjunctivitis sicca, Urinary bladder inflammation, Bronchiectasis, Fasciitis, Arthritis, F... ORPHA:99921
Gitelman Syndrome
Hashimoto thyroiditis, Chondrocalcinosis, Tubulointerstitial nephritis, Gout ORPHA:358
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Keratoconjunctivitis, Arthritis, Patent ductus arteriosus ORPHA:2363
Tetrasomy 9P
Pericarditis, Myositis, Systemic lupus erythematosus, Joint dislocation, Arthritis ORPHA:3310
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, Synovitis, Patent ductus arteriosus OMIM:163950
Wiedemann-Rautenstrauch Syndrome
Synovitis, Recurrent otitis media, Osteopenia, Joint hypermobility, Widely patent fontanelles and... ORPHA:3455
Choreoacanthocytosis
Arthritis ORPHA:2388

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.

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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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