Gene Summary

nidogen 2
entactin 2,  entactin-2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

15 Images

Embryo LacZ

LacZ images wholemount

8 Images

Human diseases caused by Nid2 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 Nid2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Genochondromatosis Type 1
Multiple enchondromatosis, Abnormality of the knee ORPHA:85197
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Familial Calcium Pyrophosphate Deposition
Limitation of joint mobility, Osteoarthritis, Joint dislocation, Chondrocalcinosis, Calcification... ORPHA:1416
Chondrocalcinosis Due To Apatite Crystal Deposition
Chondrocalcinosis, Costal cartilage calcification, Arthropathy, Osteoarthritis of the small joint... OMIM:118610
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Kienbock Disease
Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans ORPHA:97332
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction ORPHA:2380
Angel-Shaped Phalangoepiphyseal Dysplasia
Premature osteoarthritis, Delayed ossification of carpal bones, Hip osteoarthritis, Hyperextensib... OMIM:105835
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Hip osteoarthritis, Osteopenia, Knee osteoarthritis, Abnormality of the ankles... ORPHA:2619
Osteochondrosis Of The Tarsal Bone
Osteochondritis dissecans, Tarsal sclerosis, Abnormal tarsal ossification, Tarsal stippling, Chon... ORPHA:563991
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Multiple enchondromatosis, Abnormal joint morphology OMIM:156250
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis ORPHA:50809
Mueller-Weiss Syndrome
Limitation of movement at ankles, Joint subluxation, Joint stiffness, Sclerosis of foot bone, Kne... ORPHA:566943
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600
Glycoprotein Storage Disease
Gout OMIM:232900
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Heberden's node, Joint stiffness, Hip osteoarthritis OMIM:604864
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility OMIM:130020
Enlarged joints, Multiple enchondromatosis, Osteoarthritis, Joint dislocation, Generalized joint ... ORPHA:85198
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Osteochondrosis, Progressive joint destruction, Chondrit... ORPHA:564003
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Synovitis, Osteolysis of scaphoids, Osteolysis of patellae OMIM:609655
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Knee joint hypermobility, Joint stiffness, Osteoarthritis... ORPHA:93308
Epiphyseal Dysplasia, Multiple, 3
Osteoarthritis, Limited knee extension, Abnormal hip joint morphology, Limited elbow extension, D... OMIM:600969
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Joint stiffness, Osteoarthritis, Eczema, Abnormality of the knee, Joint swelling, Arthritis ORPHA:1525
Epiphyseal Dysplasia, Multiple, 2
Knee osteoarthritis, Genu varum, Flattened knee epiphyses OMIM:600204
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bone ossifica... ORPHA:2114
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Generalized morning stiffness, Arthritis, Arthropathy, Wrist flexion c... OMIM:208250
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Premature osteoarthritis, Osteopenia, Joint subluxation, Joint laxity, Increased susceptibility t... OMIM:130060
Genu varum, Wind-swept deformity of the knees, Knee joint hypermobility, Increased laxity of fing... ORPHA:750
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Osteoarthritis, Abnormality of the epiphyses of the elbow, Abnormality of the ankles,... ORPHA:166002
Epiphyseal Dysplasia, Multiple, 6
Osteoarthritis, Abnormality of the knee OMIM:614135
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility ORPHA:2762
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteoarthritis, Hip osteoarthritis OMIM:165800
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Joint dislocation, Multiple joint dislocation, Tracheomalacia OMIM:245650
Multiple Enchondromatosis, Maffucci Type
Multiple enchondromatosis, Pathologic fracture OMIM:614569
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Multiple Epiphyseal Dysplasia Type 5
Genu varum, Premature osteoarthritis, Joint stiffness, Decreased hip abduction, Intervertebral di... ORPHA:93311
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Angel-Shaped Phalango-Epiphyseal Dysplasia
Joint hyperflexibility, Hip osteoarthritis ORPHA:63442
Dysplasia Epiphysealis Hemimelica
Genu varum, Joint stiffness, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu valgum ORPHA:1822
Congenital Atransferrinemia
Arthritis ORPHA:1195
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Hip osteoarthritis, Generalized joint laxity, Limited hip movement, Delayed epip... OMIM:132400
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Delayed tarsal ossification, Premature osteoarthritis, Delayed ossification of carpa... OMIM:607078
Widow'S Peak Syndrome
Arthralgia/arthritis, Recurrent patellar dislocation, Hip osteoarthritis OMIM:314570
Progressive Pseudorheumatoid Dysplasia
Genu varum, Joint stiffness, Osteoarthritis, Enlarged interphalangeal joints, Osteoporosis, Arthr... OMIM:208230
Genu varum, Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow ORPHA:429
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Protrusio acetabuli, Abnormality of the knee, Limited hip movement, Hip contr... ORPHA:99642
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness ORPHA:1345
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis ORPHA:1937
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Osteoarthritis, Osteoporosis, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Albers-Schönberg Osteopetrosis
Recurrent fractures, Osteoarthritis, Joint dislocation, Generalized osteosclerosis, Osteomyelitis... ORPHA:53
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Uveitis, Hip osteoarthritis, Flexion contracture, Joint stiffness, Knee osteoarthritis, Ankle swe... ORPHA:85408
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Immunodeficiency 61
Recurrent sinusitis, Recurrent otitis media, Arthritis OMIM:300310
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Polyarticular arthritis, Osteopenia, Synovitis, Progressive joint destru... ORPHA:85435
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Sacroiliac arthritis, Inflammation of the large intestine, Oligoarthritis, Ps... OMIM:106300
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Knee osteoarthritis... ORPHA:93284
Hemophilia A With Vascular Abnormality
Osteoarthritis, Joint hemorrhage OMIM:306800
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Osteoarthritis OMIM:271650
Flexion contracture, Arthritis, Recurrent cutaneous abscess formation, Limitation of joint mobili... ORPHA:231
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Osteoarthritis, Osteoporosis, Knee dislocation, Hip dislocation OMIM:618000
Ulnar Hemimelia
Carpal synostosis, Abnormality of the humeroulnar joint, Dislocated radial head, Abnormal calcifi... ORPHA:93320
Multiple Epiphyseal Dysplasia, Beighton Type
Joint stiffness, Osteoarthritis, Abnormal hip joint morphology, Double-layered patella, Abnormal ... ORPHA:166011
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Joint stiffness, Osteoarthritis, Joint dislocation, Prostatitis, Cartilage destruction, Reduced b... ORPHA:56
Juvenile Idiopathic Arthritis
Uveitis, Joint stiffness, Joint dislocation, Abnormal sacroiliac joint morphology, Abnormal joint... ORPHA:92
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Osteolysis, Tarsal synostosis, Keratitis, Abnormality of the wrist ORPHA:1657
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis ORPHA:90653
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Bullous Impetigo
Recurrent bacterial skin infections, Septic arthritis, Pustule ORPHA:36237
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile arthritis, Colitis, Acne, Cystic acne, Knee flexion contracture, Elbow flexion contractur... OMIM:604416
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology, Joint stiffness, Osteolysis ORPHA:296
Laron Syndrome
Osteoarthritis, Abnormality of the elbow ORPHA:633
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Knee osteoarthritis, Sacroiliac arthritis, Abnormality of the ankles, Abnorma... ORPHA:85438
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Arthritis ORPHA:2582
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Conjunctivitis, Otitis media, Arthritis OMIM:601457
Desbuquois Dysplasia 1
Advanced ossification of carpal bones, Genu varum, Advanced tarsal ossification, Radioulnar dislo... OMIM:251450
Genu varum, Limited hip extension, Joint laxity, Osteoarthritis, Limited elbow extension, Limited... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Premature osteoarthritis, Radial head subluxation, Joint laxity, Generalized joint la... ORPHA:93360
Idiopathic Non-Lupus Full-House Nephropathy
Glomerulonephritis, Synovitis, Serositis, Arthritis, Skin rash ORPHA:567544
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Coronary Artery Disease, Autosomal Dominant 2
Gout, Osteoporosis OMIM:610947
Oligoarticular Juvenile Idiopathic Arthritis
Uveitis, Knee osteoarthritis, Abnormality of the ankles, Joint hypermobility, Rheumatoid arthriti... ORPHA:85410
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility at elbow, Hyperextensibility of the knee, Osteoarthritis, Joint dislocation, J... OMIM:130000
Pneumonia, Parotitis, Cutaneous abscess, Prostatitis, Osteoarthritis, Hepatitis, Septic arthritis... ORPHA:31202
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Osteoporosis ORPHA:77296
Loeys-Dietz Syndrome 6
Knee osteoarthritis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Vertical Talus, Congenital
Arthritis OMIM:192950
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Limitation of joint mobility, Increased inflammatory response, Acne, P... ORPHA:69126
Farber Lipogranulomatosis
Limitation of knee mobility, Arthritis, Osteolysis involving bones of the feet, Osteolytic defect... OMIM:228000
Ectopic ossification in muscle tissue, Joint stiffness, Arthritis, Increased bone mineral density ORPHA:2485
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Osteoarthritis, Abnormal joint morphology, Abnormally ossified vertebrae, Limita... ORPHA:1427
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Genu varum, Osteoarthritis OMIM:602111
Moderate Hemophilia A
Synovitis, Joint hemorrhage, Arthropathy, Hip contracture, Cartilage destruction, Joint swelling,... ORPHA:169805
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Genu varum ORPHA:93356
Adult-Onset Still Disease
Myocarditis, Hepatitis, Cartilage destruction, Pericarditis, Joint swelling, Arthritis, Skin rash ORPHA:829
Wilson Disease
Osteoarthritis, Osteoporosis, Osteomalacia, Atypical or prolonged hepatitis, Chondrocalcinosis, J... OMIM:277900
Vexas Syndrome
Neutrophilic infiltration of the skin, Chondritis of pinna, Arteritis, Inflammatory abnormality o... OMIM:301054
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Premature osteoarthritis, Abnormal enchondral ossification, Limb joint contracture, A... ORPHA:93314
Stickler Syndrome, Type I
Osteoarthritis, Arthropathy OMIM:108300
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Osteomalacia OMIM:307800
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Recurrent pneumonia, Premature osteoarthritis, Flexion contracture, Enlarged joints OMIM:215150
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Inflammatory abnormality of the eye, Otitis media, Recurrent cutaneous absc... ORPHA:229717
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Limitation of joint mobility, Hip osteoarthritis OMIM:313400
Multiple Epiphyseal Dysplasia Type 4
Premature osteoarthritis, Flexion contracture, Joint stiffness, Stiff ankle, Contracture of the p... ORPHA:93307
Limitation of knee mobility, Intervertebral disc degeneration, Vertebral fusion, Arthropathy, Lim... OMIM:203500
Familial Cold Autoinflammatory Syndrome 1
Uveitis, Arthritis, Conjunctivitis, Skin rash OMIM:120100
Systemic Lupus Erythematosus
Arthritis, Malar rash, Nephritis, Pericarditis, Lupus nephritis OMIM:152700
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Familial Cold Autoinflammatory Syndrome 2
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis OMIM:611762
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Acne, Inflammation of the large intestine, Osteomyelitis, Abnormal s... ORPHA:324964
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Conjunctivitis, Bronchiectasis, Osteomyelitis, Hepatitis, C... ORPHA:33110
Reactive Arthritis
Joint stiffness, Conjunctivitis, Inflammation of the large intestine, Recurrent aphthous stomatit... ORPHA:29207
Felty Syndrome
Sinusitis, Recurrent pneumonia, Limitation of joint mobility, Episcleritis, Rhinitis, Synovitis, ... ORPHA:47612
Lesch-Nyhan Syndrome
Gout ORPHA:510
Kniest Dysplasia
Recurrent otitis media, Enlarged joints, Tracheomalacia, Abnormal cartilage collagen, Hip contrac... OMIM:156550
Pfapa Syndrome
Infectious encephalitis, Arthritis ORPHA:42642
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis OMIM:616414
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Gout, Nephritis OMIM:162000
Schnitzler Syndrome
Increased bone mineral density, Arthritis, Skin rash ORPHA:37748
Idiopathic Camptocormia
Abnormal inflammatory response, Myelitis, Osteoarthritis, Myositis ORPHA:1320
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis ORPHA:85446
Sapho Syndrome
Recurrent skin infections, Recurrent fractures, Craniofacial osteosclerosis, Acne, Inflammation o... ORPHA:793
Trichorhinophalangeal Syndrome, Type I
Ivory epiphyses of the distal phalanges of the hand, Osteopenia, Osteoarthritis OMIM:190350
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Premature osteoarthritis, Generalized bone demineralization, Joint laxity, Delayed ep... ORPHA:93352
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Psoriasis-Related Juvenile Idiopathic Arthritis
Generalized morning stiffness, Uveitis, Polyarticular arthritis, Iritis, Sacroiliac arthritis, Ir... ORPHA:85436
Cinca Syndrome
Uveitis, Arthritis, Patellar overgrowth, Skin rash OMIM:607115
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Eosinophilic Fasciitis
Fasciitis, Myositis, Arthritis ORPHA:3165
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash OMIM:617321
Familial Mediterranean Fever
Erysipelas, Pericarditis, Orchitis, Peritonitis, Osteoarthritis, Pancreatitis, Arthritis, Skin rash ORPHA:342
Familial Cold Urticaria
Arthritis, Conjunctivitis ORPHA:47045
Blau Syndrome
Uveitis, Iritis, Erythema nodosum, Eczema, Synovitis, Flexion contracture of toe, Nongranulomatou... OMIM:186580
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Wormian bones, Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the ... OMIM:259100
Nail-Patella Syndrome
Osteoporosis, Abnormal patella morphology, Patellar dislocation, Flexion contracture, Patellar hy... ORPHA:2614
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Myositis, Polyarticular arthritis, Maculopapular exanthema, Oligoarthritis, Conjuncti... OMIM:142680
Pneumonia, Hip osteoarthritis, Orchitis, Knee osteoarthritis, Infectious encephalitis, Glomerulon... ORPHA:1304
Rat-Bite Fever
Pericarditis, Lymphadenitis, Erythema nodosum, Parotitis, Maculopapular exanthema, Endocarditis, ... ORPHA:31205
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Conjunctivitis, Osteomyelitis, Hepatitis, Chronic otitis media, R... ORPHA:47
Diverticulosis, Small-Intestinal
Rheumatoid arthritis, Thyroiditis, Ulcerative colitis OMIM:223320
Psoriasis 14, Pustular
Polyarticular arthritis, Cholangitis, Oligoarthritis, Psoriasiform dermatitis, Pustule OMIM:614204
Marshall Syndrome
Genu valgum, Osteoarthritis ORPHA:560
Hemochromatosis, Type 3
Arthritis OMIM:604250
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Lyme Disease
Infectious encephalitis, Joint swelling, Uveitis, Arthritis ORPHA:91546
Graft Versus Host Disease
Stiff interphalangeal joints, Pneumonia, Myositis, Gastrointestinal inflammation, Inflammatory ab... ORPHA:39812
Kniest Dysplasia
Enlarged joints, Joint stiffness, Abnormal cartilage collagen, Laryngotracheomalacia, Anterior ve... ORPHA:485
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Generalized osteoscl... ORPHA:1306
Chronic otitis media, Synostosis of joints, Arthritis ORPHA:61
Loeys-Dietz Syndrome 5
Osteoarthritis, Joint hypermobility, Eosinophilic infiltration of the esophagus, Flexion contract... OMIM:615582
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Colitis, Inflammation of the large intestine, Eczema, Chronic gastritis, Arthritis OMIM:608809
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Combined Oxidative Phosphorylation Deficiency 53
Osteomyelitis, Septic arthritis, Arthritis OMIM:619423
Immunodeficiency 68
Recurrent skin infections, Septic arthritis, Lymphadenitis OMIM:612260
Anti-Glomerular Basement Membrane Disease
Arthritis ORPHA:375
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Osteopenia, Carpal osteolysis, Sclerotic cranial sutures, Osteoporosis, Osteolysis inv... ORPHA:371428
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Septic arthritis, Recurrent pneumonia OMIM:617780
Aneurysm-Osteoarthritis Syndrome
Intervertebral disc degeneration, Osteochondritis dissecans, Knee osteoarthritis, Joint laxity, O... ORPHA:284984
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Muckle-Wells Syndrome
Uveitis, Conjunctivitis, Episcleritis, Recurrent aphthous stomatitis, Camptodactyly of finger, Ar... ORPHA:575
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin ORPHA:79099
Atelosteogenesis, Type Ii
Flat acetabular roof, Lacunar halos around chondrocytes OMIM:256050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Arthritis, Bronchiectasis, Eczema, Psoriasiform dermatitis, Atrophic gastritis OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Recurrent otitis media, Arthritis, Membranous nephropathy OMIM:615559
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Arthritis OMIM:184100
Sinusitis, Pneumonia, Endocarditis, Arthralgia/arthritis, Osteomyelitis, Pericarditis, Septic art... ORPHA:449280
Gaucher Disease
Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, Osteoarthritis,... ORPHA:355
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Takayasu Arteritis
Increased inflammatory response, Arthritis, Inflammatory abnormality of the eye ORPHA:3287
Majeed Syndrome
Flexion contracture, Increased bone mineral density, Increased susceptibility to fractures, Acne,... ORPHA:77297
Hypocomplementemic Urticarial Vasculitis
Uveitis, Inflammatory abnormality of the eye, Joint dislocation, Conjunctivitis, Episcleritis, Ar... ORPHA:36412
Relapsing Polychondritis
Chondritis of pinna, Uveitis, Inflammatory abnormality of the eye, Limitation of joint mobility, ... ORPHA:728
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Severe Hemophilia A
Limb joint contracture, Synovitis, Joint hemorrhage, Progressive joint destruction, Joint swellin... ORPHA:169802
Insulin-Resistance Syndrome Type B
Nephritis, Osteoarthritis, Pneumonia, Skin rash ORPHA:2298
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia OMIM:613328
Rheumatoid Arthritis
Rheumatoid arthritis, Joint swelling, Joint stiffness, Polyarticular arthritis OMIM:180300
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Epididymitis,... OMIM:307200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent pneumonia, Recurrent otitis media, Uveitis, Pneumonia, Erythema nodosum, Colitis, Conju... OMIM:614700
Zika Virus Disease
Infectious encephalitis, Maculopapular exanthema, Conjunctivitis, Wrist swelling, Ankle swelling,... ORPHA:448237
Mixed Connective Tissue Disease
Myositis, Joint stiffness, Gastritis, Myocarditis, Keratoconjunctivitis sicca, Osteolysis, Perica... ORPHA:809
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Viral hepatitis, Recurrent pneumonia, Pneumonia, Cholangitis, Cholecystit... ORPHA:183675
Wilson Disease
Hepatitis, Pathologic fracture, Acute hepatitis, Joint swelling, Arthritis ORPHA:905
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Glomerulonephritis, Inflammation of the large intestine,... ORPHA:2137
Microscopic Polyangiitis
Sinusitis, Pericarditis, Uveitis, Peritonitis, Increased inflammatory response, Episcleritis, Pan... ORPHA:727
Osteogenesis Imperfecta
Fractures of the long bones, Wormian bones, Osteopenia, Recurrent fractures, Flexion contracture,... ORPHA:666
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis OMIM:178610
Keutel Syndrome
Calcification of cartilage, Recurrent sinusitis, Recurrent otitis media ORPHA:85202
Hunter-Macdonald Syndrome
Premature osteoarthritis, Cubitus valgus, Delayed cranial suture closure, Camptodactyly, Joint co... OMIM:611962
Behcet Syndrome
Iritis, Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis OMIM:109650
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Recurrent skin infections, Pneumonia, Infectious encephalitis, Peritonitis, ... ORPHA:36234
Tracheobronchopathia Osteochondroplastica
Esophagitis, Calcification of cartilage, Recurrent pneumonia, Pneumonia ORPHA:3348
Stickler Syndrome
Uveitis, Osteoarthritis, Joint dislocation, Protrusio acetabuli, Chronic otitis media, Reduced bo... ORPHA:828
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Flexion contracture, Conjunctivitis, Panniculitis, Arthritis, Skin rash OMIM:617591
Glycogen Storage Disease Vii
Gout OMIM:232800
Rheumatic Fever
Sinusitis, Endocarditis, Myocarditis, Pericarditis, Arthritis ORPHA:3099
Hyperimmunoglobulinemia D With Periodic Fever
Limitation of joint mobility, Peritonitis, Arthritis, Recurrent aphthous stomatitis ORPHA:343
Symptomatic Form Of Hemochromatosis Type 1
Stiff interphalangeal joints, Joint stiffness, Osteoporosis, Arthropathy, Joint swelling, Arthritis ORPHA:465508
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Epiphyseal stippling, Abnormal cartilage matrix, Arthrogryposis multiplex congenita ORPHA:86822
Hypermobile Ehlers-Danlos Syndrome
Wormian bones, Joint hyperflexibility, Osteoarthritis, Joint dislocation, Elbow dislocation, Kera... ORPHA:285
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Erythroderma, Hepatitis, Arthritis OMIM:304790
Reynolds Syndrome
Keratoconjunctivitis sicca, Infectious encephalitis, Arthritis, Skin rash ORPHA:779
Genu varum, Limitation of joint mobility, Osteoporosis, Acne, Osteomyelitis, Eczematoid dermatiti... ORPHA:2796
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis ORPHA:411543
Loeys-Dietz Syndrome 3
Craniosynostosis, Hip osteoarthritis, Intervertebral disc degeneration, Knee osteoarthritis, Join... OMIM:613795
Classical Ehlers-Danlos Syndrome
Shoulder dislocation, Osteopenia, Dislocated radial head, Osteoarthritis, Generalized joint laxit... ORPHA:287
Medullary cystic kidney disease 2
Gout, Tubulointerstitial nephritis OMIM:603860
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Arthropathy ORPHA:3467
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Erythroderma OMIM:619510
Multiple Osteochondromas
Limitation of knee mobility, Limitation of joint mobility, Femoroacetabular impingement, Abnormal... ORPHA:321
Pyoderma Gangrenosum
Rheumatoid arthritis, Myositis, Pustule, Inflammation of the large intestine ORPHA:48104
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Viral hepatitis, Arthritis ORPHA:91138
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Limitation of joint mobility, Osteolytic defec... ORPHA:740
Sinusitis, Myositis, Pneumonia, Peritonitis, Maculopapular exanthema, Fasciitis, Bronchiectasis, ... ORPHA:228119
Adiposis Dolorosa
Recurrent skin infections, Arthritis ORPHA:36397
Marfan Syndrome
Premature osteoarthritis, Flexion contracture, Joint hypermobility, Protrusio acetabuli, Limited ... OMIM:154700
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myositis, Increased inflammatory response, Myocarditis, Tubulointerstitial nephritis, ... ORPHA:183
Kid Syndrome
Punctate keratitis, Recurrent cutaneous fungal infections, Recurrent bacterial skin infections, R... ORPHA:477
Stiff interphalangeal joints, Joint stiffness, Erythema nodosum, Infectious encephalitis, Maculop... ORPHA:324625
Dowling-Degos Disease
Acne inversa, Arthritis ORPHA:79145
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Uveitis, Orchitis, Peritonitis, Conjunctivitis, Abnormal sacroiliac joint m... ORPHA:32960
Uveitis, Flexion contracture, Myocarditis, Fasciitis, Episcleritis, Osteomyelitis, Osteolytic def... ORPHA:801
Pediatric Systemic Lupus Erythematosus
Myositis, Malar rash, Nephritis, Discoid lupus rash, Arthritis, Skin rash ORPHA:93552
Whipple Disease
Myositis, Uveitis, Infectious encephalitis, Myocarditis, Pericarditis, Arthritis ORPHA:3452
Joint swelling, Osteoarthritis, Acne ORPHA:963
Chondrocalcinosis, Arthritis, Pericarditis ORPHA:732
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Contractures of the large joints, Flexion contracture of digit, Abnormal epip... ORPHA:580
Overlap Myositis
Rheumatoid arthritis, Subluxation of the small joints of the hand, Arthritis ORPHA:206572
Farber Disease
Flexion contracture, Osteoporosis, Joint swelling, Abnormality of the knee, Abnormality of the wr... ORPHA:333
Diffuse Cutaneous Systemic Sclerosis
Osteolysis, Flexion contracture, Arthritis ORPHA:220393
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Joint swelling, Osteoarthritis ORPHA:314769
Localized Scleroderma
Uveitis, Flexion contracture, Hashimoto thyroiditis, Fasciitis, Esophagitis, Sclerosis of finger ... ORPHA:90289
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Pneumonia, Hepatitis, Juvenile rheumatoid arthritis, Arthritis, Skin rash ORPHA:1855
X-Linked Hypophosphatemia
Genu varum, Craniosynostosis, Sacroiliac joint synovitis, Limitation of joint mobility, Enthesiti... ORPHA:89936
Lymphatic Filariasis
Lymphadenitis, Orchitis, Knee osteoarthritis, Glomerulonephritis, Epididymitis, Ankle swelling ORPHA:2035
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Abnormal cartilage morphology, Osteolysis ORPHA:2396
Congenital Tufting Enteropathy
Punctate keratitis, Arthritis ORPHA:92050
Sweet Syndrome
Myositis, Acne inversa, Acne, Inflammation of the large intestine, Oligoarthritis, Panniculitis, ... ORPHA:3243
Agammaglobulinemia, X-Linked
Recurrent otitis media, Recurrent pneumonia, Infectious encephalitis, Prostatitis, Bronchiectasis... OMIM:300755
Uveitis, Pneumonia, Peritonitis, Myocarditis, Acute colitis, Conjunctivitis, Ulcerative colitis, ... ORPHA:810
Systemic Sclerosis
Recurrent skin infections, Flexion contracture, Glomerulonephritis, Myocarditis, Osteomyelitis, O... ORPHA:90291
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis ORPHA:91139
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Pericarditis, Arthritis OMIM:249100
Hyper-Igd Syndrome
Lymphadenitis, Chronic oral candidiasis, Serositis, Arthritis, Skin rash OMIM:260920
Sitosterolemia 1
Arthritis OMIM:210250
Giant Cell Arteritis
Joint stiffness, Arthritis, Pericarditis ORPHA:397
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Osteopenia, Psoriasiform dermatitis, Chronic oral candidiasis, Recurrent aspiration pneumonia, Ar... ORPHA:221139
Pyelonephritis, Pneumonia, Infectious encephalitis, Cholecystitis, Peritonitis, Myocarditis, Endo... ORPHA:533
Behçet Disease
Optic neuritis, Pericarditis, Myositis, Orchitis, Infectious encephalitis, Increased inflammatory... ORPHA:117
Immunoglobulin A Vasculitis
Orchitis, Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash ORPHA:761
Pericarditis, Pneumonia, Erythema nodosum, Peritonitis, Morbilliform rash, Osteomyelitis, Pannicu... ORPHA:228123
Juvenile Dermatomyositis
Myositis, Arthritis, Pericarditis, Limitation of joint mobility, Skin rash ORPHA:93672
Catastrophic Antiphospholipid Syndrome
Myocarditis, Arthritis ORPHA:464343
Riddle Syndrome
Recurrent pneumonia, Pneumonia, Recurrent sinusitis, Otitis media, Arthritis, Chronic sinusitis ORPHA:420741
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Erythema nodosum, Hashimoto thyroiditis, Eczema, Recurrent sinusitis, Pan... OMIM:615688
Primary Sjögren Syndrome
Optic neuritis, Myositis, Erythema nodosum, Polyarticular arthropathy, Parotitis, Chronic hepatit... ORPHA:289390
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Colitis, Ankle swelling, Eczema, Erythroderma, Inflammatory abnor... ORPHA:3260
Postinfectious Vasculitis
Viral hepatitis, Pneumonia, Gastrointestinal inflammation, Orchitis, Bacterial endocarditis, Incr... ORPHA:48435
Hereditary Spherocytosis
Gout, Maculopapular exanthema ORPHA:822
Vascular Ehlers-Danlos Syndrome
Periodontitis, Congenital hip dislocation, Osteoarthritis, Joint dislocation, Osteolysis, Joint h... ORPHA:286
Wiskott-Aldrich Syndrome
Sinusitis, Blepharitis, Conjunctivitis, Inflammation of the large intestine, Eczema, Chronic otit... ORPHA:906
Blau Syndrome
Polyarticular arthritis, Erythema nodosum, Posterior uveitis, Abnormal inflammatory response, Iri... ORPHA:90340
Glycogen Storage Disease Ia
Gout, Osteoporosis, Pancreatitis OMIM:232200
Kawasaki Disease
Cholecystitis, Myocarditis, Conjunctivitis, Cheilitis, Hepatitis, Pericarditis, Arthritis, Skin rash ORPHA:2331
Acute pancreatitis, Gout ORPHA:412
Glycogen Storage Disease Ib
Gout, Osteoporosis, Pancreatitis OMIM:232220
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Arthritis OMIM:161700
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Crohn's disease, Recurrent skin infections, Pneumonia, Gastritis, Colitis... OMIM:619381
Autoimmune Lymphoproliferative Syndrome
Uveitis, Gastritis, Colitis, Glomerulonephritis, Recurrent aphthous stomatitis, Thyroiditis, Hepa... ORPHA:3261
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Tubulointerstitial nephritis OMIM:174000
Oculocerebrorenal Syndrome Of Lowe
Joint stiffness, Recurrent fractures, Joint hyperflexibility, Periodontitis, Osteomalacia, Cheili... ORPHA:534
Lymphadenitis, Erythema nodosum, Inflammatory abnormality of the eye, Inflammation of the large i... ORPHA:707
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Periodontitis, Osteoporosis, Increased susceptibility to fractures, Inflammation of t... ORPHA:79259
Aicardi-Goutières Syndrome
Myositis, Chilblains, Multiple joint contractures, Panniculitis, Arthritis ORPHA:51
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Acne, Patellar dislocation, Chronic otitis media, Seborrheic de... ORPHA:567
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Arthritis ORPHA:93111
Chondrocalcinosis, Myocarditis, Arthritis, Pericarditis ORPHA:221
Hereditary Sensory And Autonomic Neuropathy Type 4
Painless fractures due to injury, Abnormality of lower limb joint, Abnormality of the ankles, Ost... ORPHA:642
Sarcoidosis, Susceptibility To, 1
Uveitis, Inflammation of the large intestine, Bronchiectasis, Iridocyclitis, Arthritis OMIM:181000
Marburg Hemorrhagic Fever
Pericarditis, Uveitis, Orchitis, Maculopapular exanthema, Pancreatitis, Arthritis, Skin rash ORPHA:99826
Mucopolysaccharidosis Type 2, Severe Form
Limitation of joint mobility, Camptodactyly of finger, Flexion contracture, Arthritis ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Limitation of joint mobility, Camptodactyly of finger, Flexion contracture, Arthritis ORPHA:217093
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Myocarditis, Acute colitis, Pancreatitis, Septic arthritis ORPHA:544482
Fabry Disease
Reduced bone mineral density, Arthritis ORPHA:324
Glycogen Storage Disease Ic
Gout, Chronic pancreatitis OMIM:232240
Gaisböck Syndrome
Cholecystitis, Gout ORPHA:90041
Gitelman Syndrome
Hashimoto thyroiditis, Chondrocalcinosis, Gout, Tubulointerstitial nephritis ORPHA:358
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Keratoconjunctivitis sicca, Fa... ORPHA:99921
Tetrasomy 9P
Myositis, Joint dislocation, Arthritis, Pericarditis ORPHA:3310
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Arthritis, Keratoconjunctivitis ORPHA:2363
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Chronic otitis media, Arthritis, Joint stiffness ORPHA:93
Wiedemann-Rautenstrauch Syndrome
Recurrent otitis media, Recurrent skin infections, Osteopenia, Joint hypermobility, Synovitis, Ca... ORPHA:3455
Noonan Syndrome 1
Synovitis, Cubitus valgus OMIM:163950
Arthritis ORPHA:2388


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 Nid2

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 Nid2.

No publications found that use IMPC mice or data for Nid2.

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MGI Allele Allele Type Produced
Nid2tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nid2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nid2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nid2tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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