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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.36% (6 of 440)
ear 0.0%
embryo 0.22% (1 of 458)
eye 0.22% (1 of 457)
footplate 0.21% (1 of 466)
forebrain 0.22% (1 of 455)
forelimb 0.22% (1 of 452)
handplate 0.22% (1 of 460)
head 0.87% (4 of 461)
heart 0.22% (1 of 455)
hindbrain 1.08% (5 of 463)
hindlimb 0.0%
liver 0.22% (1 of 454)
lung 0.22% (1 of 453)
mandibular process 0.0%
maxillary process 0.22% (1 of 445)
midbrain 0.22% (1 of 458)
oral cavity 0.22% (1 of 451)
skin 0.22% (1 of 458)
tail 0.22% (1 of 465)
tail somite group 0.22% (1 of 455)

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
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint swelling, Osteoarthritis, Arthritis, Joint dislocation, Calcification of... ORPHA:1416
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility ORPHA:97332
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Legg-Calvé-Perthes Disease
Cartilage destruction, Joint dislocation ORPHA:2380
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Hyperextensibility of the finger joints... OMIM:105835
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Knee osteoarthritis, Joint subluxation, Stiff shoulders, Abnormality... ORPHA:2619
Osteochondrosis Of The Tarsal Bone
Chondritis, Osteochondritis dissecans, Abnormal tarsal ossification, Arthritis, Tarsal sclerosis,... 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
Abnormal joint morphology, Multiple enchondromatosis OMIM:156250
Talo-Patello-Scaphoid Osteolysis
Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Enlarged joints, Synovitis ORPHA:50809
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Glycoprotein Storage Disease
Gout OMIM:232900
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Osteoarthritis, Joint laxity, Joint dislocation OMIM:130020
Mueller-Weiss Syndrome
Knee osteoarthritis, Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Arth... ORPHA:566943
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Joint stiffness, Heberden's node OMIM:604864
Generalized joint laxity, Osteoarthritis, Joint dislocation, Multiple enchondromatosis, Enlarged ... ORPHA:85198
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Chondritis, Osteochondrosis, Progressive joint destructi... ORPHA:564003
Familial Avascular Necrosis Of Femoral Head
Limited hip movement, Hip osteoarthritis ORPHA:86820
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Synovitis, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids OMIM:609655
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Osteoarthritis, Delayed epiphyseal ossifi... OMIM:600969
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Multiple Epiphyseal Dysplasia Type 1
Knee joint hypermobility, Finger joint hypermobility, Joint stiffness, Genu varum, Osteoarthritis... ORPHA:93308
Joint stiffness, Joint swelling, Abnormality of the knee, Osteoarthritis, Arthritis, Eczema ORPHA:1525
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Osteoarthritis, Abnormality of bone mineral density, Abnormal ossific... ORPHA:2114
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint subluxation, Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finge... OMIM:130060
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Generalized morning stiffness, Arthropathy, Arthritis, Congenital finger flexion contractures, Wr... OMIM:208250
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormal patella morphology, Genu varum, Abnormality of the knee, Abnormality of the epiphyses of... ORPHA:166002
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis dissecans, Hip osteoarthritis, Premature osteoarthritis OMIM:165800
Limited elbow extension, Knee joint hypermobility, Distal joint laxity, Generalized joint laxity,... ORPHA:750
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
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Tracheomalacia, Abnormal cartilage matrix, Joint dislocation OMIM:245650
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Multiple Enchondromatosis, Maffucci Type
Multiple enchondromatosis, Pathologic fracture OMIM:614569
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Genu varum, Abnormal hip joint morphology, Intervertebral disc degeneration, Del... ORPHA:93311
Congenital Atransferrinemia
Arthritis ORPHA:1195
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Dysplasia Epiphysealis Hemimelica
Joint stiffness, Genu varum, Osteoarthritis, Recurrent fractures, Tarsal synostosis, Genu valgum ORPHA:1822
Epiphyseal Dysplasia, Multiple, 1
Generalized joint laxity, Joint stiffness, Delayed epiphyseal ossification, Hip osteoarthritis, L... OMIM:132400
Epiphyseal Dysplasia, Multiple, 5
Delayed tarsal ossification, Delayed ossification of carpal bones, Genu valgum, Premature osteoar... OMIM:607078
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Protrusio acetabuli, Hip subluxation, Hip contracture, Limited hip movem... ORPHA:99642
Joint hyperflexibility, Abnormality of the elbow, Osteoarthritis, Genu varum ORPHA:429
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Joint swelling, Joint stiffness, Genu varum, Arthropathy, Osteoporosis, ... OMIM:208230
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... OMIM:166600
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness ORPHA:1345
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis ORPHA:1937
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Osteoarthritis, Joint dislocation, Arthritis, Osteomyelitis, Recurren... ORPHA:53
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Joint stiffness, Joint swelling, Enthesitis, Abnormal hip jo... ORPHA:85408
Epiphyseal Dysplasia, Multiple, 2
Osteochondritis dissecans, Knee osteoarthritis, Flattened knee epiphyses, Genu varum OMIM:600204
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal joint morphology, Osteoporosis, Synostosis of carpal bones, Osteoarthritis, Limitation o... ORPHA:93351
Spondyloarthropathy, Susceptibility To, 1
Oligoarthritis, Inflammation of the large intestine, Enthesitis, Psoriasiform dermatitis, Anterio... OMIM:106300
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Finger joint hypermobility, Hyperextensibility at wri... OMIM:601492
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Reduced bone mineral density, Polyarticular arthritis, Joint swelling, Progressive joint destruct... ORPHA:85435
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteoarthritis, Septic arthritis, Osteomyelitis, Recurrent fractures, Painless fract... OMIM:608654
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Increased bone mineral density, Stiff knee, Increased inflammatory response,... ORPHA:93284
Recurrent cutaneous abscess formation, Skin rash, Arthritis, Limitation of joint mobility, Flexio... ORPHA:231
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Genu valgum, Osteoarthritis, Capitate-hamate fusion OMIM:271650
Ulnar Hemimelia
Limited elbow extension, Abnormal calcification of the carpal bones, Abnormality of the humerouln... ORPHA:93320
Neuronopathy, Distal Hereditary Motor, Type X
Joint hypermobility, Bronchiectasis, Osteoarthritis OMIM:620080
Multiple Epiphyseal Dysplasia, Beighton Type
Joint stiffness, Abnormal hip joint morphology, Osteoarthritis, Abnormal acetabulum morphology, D... ORPHA:166011
Juvenile Idiopathic Arthritis
Abnormal joint morphology, Joint stiffness, Joint swelling, Skin rash, Uveitis, Joint dislocation... ORPHA:92
Reduced bone mineral density, Joint stiffness, Joint swelling, Osteoarthritis, Joint dislocation,... ORPHA:56
Stickler Syndrome Type 1
Osteoarthritis, Joint hyperflexibility ORPHA:90653
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Bullous Impetigo
Septic arthritis, Recurrent bacterial skin infections, Pustule ORPHA:36237
Dermatoosteolysis, Kirghizian Type
Osteolysis, Abnormality of the wrist, Osteoarthritis, Keratitis, Tarsal synostosis ORPHA:1657
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Knee flexion contracture, Sterile arthritis, Colitis, Arthritis, Acne, Elbow flexion... OMIM:604416
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology, Osteolysis, Joint stiffness ORPHA:296
Enthesitis-Related Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Enthesitis, Abnormal hip joint morphology, Abnormality of th... ORPHA:85438
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Knee osteoarthritis, Camptodactyly of toe, Camptodactyly of finger, ... ORPHA:2848
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Arthritis ORPHA:2582
Laron Syndrome
Abnormality of the elbow, Osteoarthritis ORPHA:633
Desbuquois Dysplasia 1
Genu varum, Flat acetabular roof, Osteoporosis, Advanced ossification of carpal bones, Advanced t... OMIM:251450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Hip dislocation, Generalized joint laxity, Genu varum, Laryngotracheomalacia, Abnormally shaped c... ORPHA:93360
Limited elbow extension, Ulnar deviation of the wrist, Genu varum, Limited shoulder movement, Gen... OMIM:177170
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility at elbow, Osteoarthritis, Joint dislocation, Hyperextensibility of the knee, J... OMIM:130000
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, Pneumonia, Conjunctivitis, Otitis media OMIM:601457
Ehlers-Danlos Syndrome, Classic-Like, 2
Hip dislocation, Generalized joint laxity, Osteoporosis, Osteoarthritis, Shoulder dislocation, Os... OMIM:618000
Morgagni-Stewart-Morel Syndrome
Acne, Osteoporosis, Osteoarthritis ORPHA:77296
Osteoarthritis, Parotitis, Hepatitis, Septic arthritis, Foot osteomyelitis, Cutaneous abscess, Pn... ORPHA:31202
Vertical Talus, Congenital
Arthritis OMIM:192950
Idiopathic Non-Lupus Full-House Nephropathy
Glomerulonephritis, Skin rash, Arthritis, Synovitis, Serositis ORPHA:567544
Papa Syndrome
Increased inflammatory response, Pustule, Arthritis, Acne, Limitation of joint mobility, Crohn's ... ORPHA:69126
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, Joint hypermobility, Abnormal... ORPHA:85410
Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness, Arthritis ORPHA:2485
Farber Lipogranulomatosis
Ulnar deviation of the wrist, Osteolysis involving bones of the feet, Joint swelling, Arthritis, ... OMIM:228000
Loeys-Dietz Syndrome 6
Knee osteoarthritis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Stickler Syndrome, Type I
Joint stiffness, Arthropathy, Osteoarthritis, Arthritis, Joint hypermobility OMIM:108300
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Immunodeficiency 61
Recurrent otitis media, Arthritis, Recurrent sinusitis OMIM:300310
Otospondylomegaepiphyseal Dysplasia
Abnormal joint morphology, Osteoarthritis, Enlarged joints, Limitation of joint mobility, Abnorma... ORPHA:1427
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Osteoarthritis, Genu varum OMIM:602111
Moderate Hemophilia A
Joint swelling, Arthropathy, Joint hemorrhage, Cartilage destruction, Hip contracture, Limitation... ORPHA:169805
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Arthritis OMIM:609939
Adult-Onset Still Disease
Myocarditis, Joint swelling, Skin rash, Arthritis, Hepatitis, Cartilage destruction, Pericarditis ORPHA:829
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteoarthritis, Osteomalacia, Hypophosphatemic rickets, Genu valgum OMIM:307800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Genu varum ORPHA:93356
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Flat acetabular roof, Abnormal enchondral ossification, Delayed epiphyseal ossificati... ORPHA:93314
Vexas Syndrome
Inflammatory abnormality of the skin, Nasal chondritis, Arthritis, Arteritis, Neutrophilic infilt... OMIM:301054
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality ... ORPHA:229717
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Arthritis, Erythema nodosum, Skin rash OMIM:611762
Multiple Epiphyseal Dysplasia Type 4
Joint stiffness, Metatarsal synostosis, Premature osteoarthritis, Dislocation of the femoral head... ORPHA:93307
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Recurrent pneumonia, Flexion contracture, Enlarged joints, Premature osteoarthritis OMIM:215150
Vertebral fusion, Arthropathy, Limited shoulder movement, Arthritis, Limitation of knee mobility,... OMIM:203500
Systemic Lupus Erythematosus
Malar rash, Lupus nephritis, Arthritis, Nephritis, Pericarditis OMIM:152700
Reactive Arthritis
Inflammation of the large intestine, Joint stiffness, Joint swelling, Enthesitis, Recurrent aphth... ORPHA:29207
Autosomal Agammaglobulinemia
Chronic otitis media, Skin rash, Arthritis, Hepatitis, Sinusitis, Recurrent skin infections, Bron... ORPHA:33110
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Osteolysis, Inflammation of the large intestine, Skin rash, Abnormal... ORPHA:324964
Familial Cold Autoinflammatory Syndrome 1
Uveitis, Conjunctivitis, Arthritis, Skin rash OMIM:120100
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Felty Syndrome
Chronic otitis media, Abnormal joint morphology, Osteolysis, Arthritis, Episcleritis, Sinusitis, ... ORPHA:47612
Lesch-Nyhan Syndrome
Gout ORPHA:510
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Pathologic fracture, Osteoarthritis, Osteopenia ORPHA:77259
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Pfapa Syndrome
Infectious encephalitis, Arthritis ORPHA:42642
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis OMIM:616414
Idiopathic Camptocormia
Abnormal inflammatory response, Myelitis, Myositis, Osteoarthritis ORPHA:1320
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis ORPHA:85446
Zika Virus Disease
Maculopapular exanthema, Skin rash, Arthritis, Wrist swelling, Infectious encephalitis, Ankle swe... ORPHA:448237
Sapho Syndrome
Craniofacial osteosclerosis, Osteolysis, Inflammation of the large intestine, Enthesitis, Skin ra... ORPHA:793
Schnitzler Syndrome
Increased bone mineral density, Arthritis, Skin rash ORPHA:37748
Trichorhinophalangeal Syndrome, Type I
Osteoarthritis, Osteopenia, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Delayed epiphyseal ossification, Joint laxity, Premature osteoarthritis, Generalized ... ORPHA:93352
Kniest Dysplasia
Tracheomalacia, Hip dislocation, Genu varum, Abnormal cartilage collagen, Delayed epiphyseal ossi... OMIM:156550
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Psoriasis-Related Juvenile Idiopathic Arthritis
Malar rash, Polyarticular arthritis, Oligoarthritis, Generalized morning stiffness, Abnormality o... ORPHA:85436
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis ORPHA:3165
Cinca Syndrome
Patellar overgrowth, Uveitis, Arthritis, Skin rash OMIM:607115
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, Pericarditis OMIM:617321
Marshall Syndrome
Genu valgum, Osteoarthritis ORPHA:560
Familial Cold Urticaria
Conjunctivitis, Arthritis ORPHA:47045
Familial Mediterranean Fever
Peritonitis, Orchitis, Skin rash, Erysipelas, Pancreatitis, Osteoarthritis, Arthritis, Pericarditis ORPHA:342
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Arthropathy, Osteoporosis, Wormian bones, Osteopenia, Osteolytic defects o... OMIM:259100
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Hepatitis, Sin... ORPHA:47
Periodic Fever, Familial, Autosomal Dominant
Oligoarthritis, Maculopapular exanthema, Polyarticular arthritis, Skin rash, Erysipelas, Myositis... OMIM:142680
Myocarditis, Knee osteoarthritis, Pericarditis, Glomerulonephritis, Orchitis, Endocarditis, Arthr... ORPHA:1304
Graft Versus Host Disease
Gastrointestinal inflammation, Acute hepatitis, Inflammatory abnormality of the skin, Maculopapul... ORPHA:39812
Nail-Patella Syndrome
Patellar dislocation, Achilles tendon contracture, Patellar aplasia, Proximal finger joint hypere... ORPHA:2614
Rat-Bite Fever
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Skin rash,... ORPHA:31205
Blau Syndrome
Camptodactyly of finger, Joint swelling, Flexion contracture of toe, Uveitis, Arthritis, Iritis, ... OMIM:186580
Aneurysm-Osteoarthritis Syndrome
Craniosynostosis, Knee osteoarthritis, Camptodactyly of finger, Osteochondritis dissecans, Osteop... ORPHA:284984
Hemochromatosis, Type 3
Arthritis OMIM:604250
Psoriasis 14, Pustular
Cholangitis, Oligoarthritis, Polyarticular arthritis, Psoriasiform dermatitis, Pustule OMIM:614204
Sjogren Syndrome
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Rheumatoid arthritis OMIM:270150
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis, Sclerotic cranial sutures, Arthropathy, Osteoporosis, Osteolysis involving bones of t... ORPHA:371428
Lyme Disease
Infectious encephalitis, Uveitis, Joint swelling, Arthritis ORPHA:91546
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Osteoarthritis, Congenital finger flexion contractures, Joint hypermo... OMIM:615582
Chronic otitis media, Synostosis of joints, Arthritis ORPHA:61
Muckle-Wells Syndrome
Camptodactyly of finger, Skin rash, Recurrent aphthous stomatitis, Uveitis, Arthritis, Episclerit... ORPHA:575
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Lymphadenitis OMIM:612260
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Arthritis OMIM:619423
Non Rare In Europe: Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Arthritis, Recurrent fractures, Fl... ORPHA:1306
Anti-Glomerular Basement Membrane Disease
Arthritis ORPHA:375
Kniest Dysplasia
Abnormal joint morphology, Anterior vertebral fusion, Joint stiffness, Laryngotracheomalacia, Art... ORPHA:485
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Arthritis, Atrophic gastritis, Bronchiectasis, Psoriasiform dermatitis, Crohn's disease, Eczema OMIM:616100
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Endocarditis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pneumonia, Osteomyelitis, Perica... ORPHA:449280
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Membranous nephropathy, Arthritis, Recurrent sinusitis OMIM:615559
Atelosteogenesis, Type Ii
Flat acetabular roof, Lacunar halos around chondrocytes OMIM:256050
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Arthritis OMIM:184100
Wilson Disease
Chondrocalcinosis, Atypical or prolonged hepatitis, Osteoporosis, Osteoarthritis, Osteomalacia, J... OMIM:277900
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Gaucher Disease
Increased bone mineral density, Osteolysis, Joint stiffness, Osteoarthritis, Joint dislocation, O... ORPHA:355
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis ORPHA:3287
Complement Factor I Deficiency
Glomerulonephritis, Pyelonephritis, Recurrent otitis media, Recurrent skin infections, Septic art... OMIM:610984
Majeed Syndrome
Increased bone mineral density, Inflammatory abnormality of the skin, Pustule, Acne, Increased su... ORPHA:77297
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Osteopenia OMIM:613328
Hypocomplementemic Urticarial Vasculitis
Skin rash, Uveitis, Joint dislocation, Arthritis, Episcleritis, Inflammatory abnormality of the e... ORPHA:36412
Relapsing Polychondritis
Myocarditis, Keratitis, Chondritis, Recurrent aphthous stomatitis, Scleritis, Uveitis, Arthritis,... ORPHA:728
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Eczema, Recurrent pneumonia OMIM:617780
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Uveitis, Colitis, Arthritis, Recurrent otitis media, Recurre... OMIM:614700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Sinusitis, Recurrent otitis media, Infectious encephalitis, Septic arthrit... OMIM:307200
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Osteoarthritis, Skin rash ORPHA:2298
Rheumatoid Arthritis
Polyarticular arthritis, Joint stiffness, Rheumatoid arthritis, Joint swelling OMIM:180300
Mixed Connective Tissue Disease
Myocarditis, Osteolysis, Joint swelling, Joint stiffness, Skin rash, Keratoconjunctivitis sicca, ... ORPHA:809
Severe Hemophilia A
Joint swelling, Progressive joint destruction, Joint hemorrhage, Limitation of joint mobility, Sy... ORPHA:169802
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Microscopic Polyangiitis
Peritonitis, Skin rash, Pancreatitis, Uveitis, Arthritis, Episcleritis, Sinusitis, Increased infl... ORPHA:727
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Hunter-Macdonald Syndrome
Camptodactyly, Delayed cranial suture closure, Cubitus valgus, Joint contracture of the hand, Pre... OMIM:611962
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Chronic sinusitis, Atopic dermatitis, Skin rash, Arthritis, Recurrent otitis media, ... ORPHA:183675
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Osteogenesis Imperfecta
Flexion contracture, Osteoporosis, Dislocated radial head, Osteoarthritis, Osteopenia, Wormian bo... ORPHA:666
Keutel Syndrome
Recurrent otitis media, Calcification of cartilage, Recurrent sinusitis ORPHA:85202
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Glomerulonephritis, Skin rash, Myositis, Arthritis, Hepatitis, Sinusiti... ORPHA:36234
Wilson Disease
Acute hepatitis, Joint swelling, Pathologic fracture, Arthritis, Hepatitis ORPHA:905
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Myositis, Arthritis, Sinusitis, Flexion contracture, Conjunctivitis, Panniculitis OMIM:617591
Autoimmune Hepatitis
Acute hepatitis, Glomerulonephritis, Inflammation of the large intestine, Viral hepatitis, Fulmin... ORPHA:2137
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Esophagitis, Calcification of cartilage ORPHA:3348
Stickler Syndrome
Chronic otitis media, Reduced bone mineral density, Hip dislocation, Uveitis, Osteoarthritis, Joi... ORPHA:828
Rheumatic Fever
Myocarditis, Endocarditis, Arthritis, Sinusitis, Pericarditis ORPHA:3099
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis ORPHA:411543
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Recurrent aphthous stomatitis, Limitation of joint mobility, Arthritis ORPHA:343
Behcet Syndrome
Erythema nodosum, Arthritis, Iritis, Iridocyclitis, Epididymitis OMIM:109650
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Arthritis, Hepatitis, Eczema, Erythroderma OMIM:304790
Hypermobile Ehlers-Danlos Syndrome
Osteolysis, Hip dislocation, Keratoconjunctivitis sicca, Abnormality of the wrist, Osteoarthritis... ORPHA:285
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Joint swelling, Stiff interphalangeal joints, Arthropathy, Osteoporosis, Arthritis ORPHA:465508
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Abnormal cartilage matrix, Epiphyseal stippling ORPHA:86822
Reynolds Syndrome
Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis, Skin rash ORPHA:779
Loeys-Dietz Syndrome 3
Craniosynostosis, Knee osteoarthritis, Camptodactyly, Osteochondritis dissecans, Osteoarthritis, ... OMIM:613795
Eczematoid dermatitis, Osteolysis, Joint swelling, Genu varum, Osteoporosis, Arthritis, Acne, Seb... ORPHA:2796
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Classical Ehlers-Danlos Syndrome
Hip dislocation, Generalized joint laxity, Joint swelling, Dislocated radial head, Osteoarthritis... ORPHA:287
Peritonitis, Maculopapular exanthema, Myositis, Arthritis, Fasciitis, Sinusitis, Bronchiectasis, ... ORPHA:228119
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Erythroderma OMIM:619510
Multiple Osteochondromas
Femoroacetabular impingement, Abnormality of the knee, Arthritis, Limitation of knee mobility, Ab... ORPHA:321
Medullary cystic kidney disease 2
Gout, Tubulointerstitial nephritis OMIM:603860
Kid Syndrome
Acne inversa, Recurrent cutaneous abscess formation, Keratitis, Recurrent bacterial skin infectio... ORPHA:477
Hereditary Xanthinuria
Arthropathy, Gout, Rheumatoid arthritis ORPHA:3467
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Viral hepatitis, Arthritis ORPHA:91138
Marfan Syndrome
Limited elbow extension, Camptodactyly, Genu recurvatum, Protrusio acetabuli, Joint hypermobility... OMIM:154700
Adiposis Dolorosa
Recurrent skin infections, Arthritis ORPHA:36397
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis ORPHA:48104
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Tubulointerstitial nephritis, Endocarditis, Skin rash, Myositis, Arthritis, Sinusiti... ORPHA:183
Hutchinson-Gilford Progeria Syndrome
Reduced bone mineral density, Hip dislocation, Osteolytic defects of the distal phalanges of the ... ORPHA:740
Osteolysis, Maculopapular exanthema, Joint swelling, Joint stiffness, Stiff interphalangeal joint... ORPHA:324625
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Farber Disease
Joint swelling, Abnormality of the knee, Osteoporosis, Abnormality of the elbow, Abnormality of t... ORPHA:333
Dowling-Degos Disease
Acne inversa, Arthritis ORPHA:79145
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Orchitis, Skin rash, Erysipelas, Uveitis, Myositis, Abnormal sacroiliac joint morpho... ORPHA:32960
Pediatric Systemic Lupus Erythematosus
Malar rash, Skin rash, Arthritis, Discoid lupus rash, Nephritis, Myositis ORPHA:93552
Myocarditis, Keratitis, Uveitis, Arthritis, Osteolytic defects of the phalanges of the hand, Epis... ORPHA:801
Whipple Disease
Myocarditis, Uveitis, Arthritis, Infectious encephalitis, Myositis, Pericarditis ORPHA:3452
Chondrocalcinosis, Pericarditis, Arthritis ORPHA:732
Mucopolysaccharidosis Type 2
Abnormal epiphyseal ossification, Flexion contracture of digit, Limitation of joint mobility, Hip... ORPHA:580
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Osteolysis, Arthritis ORPHA:220393
Overlap Myositis
Subluxation of the small joints of the hand, Arthritis, Rheumatoid arthritis ORPHA:206572
Acne, Osteoarthritis, Joint swelling ORPHA:963
Localized Scleroderma
Hashimoto thyroiditis, Uveitis, Sclerosis of finger phalanx, Arthritis, Esophagitis, Flexion cont... ORPHA:90289
Glycogen Storage Disease Vii
Gout OMIM:232800
Osteoarthritis, Joint swelling ORPHA:314769
X-Linked Hypophosphatemia
Rickets, Craniosynostosis, Reduced bone mineral density, Generalized osteosclerosis, Genu varum, ... ORPHA:89936
Skin rash, Juvenile rheumatoid arthritis, Arthritis, Hepatitis, Pneumonia ORPHA:1855
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis ORPHA:92050
Sweet Syndrome
Acne inversa, Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, ... ORPHA:3243
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Osteolysis, Osteochondrosis ORPHA:2396
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Recurrent otitis media, Recurrent pneumonia, Infectious encephalitis, Sept... OMIM:300755
Peritonitis, Myocarditis, Acute colitis, Uveitis, Ulcerative colitis, Arthritis, Pneumonia, Conju... ORPHA:810
Systemic Sclerosis
Myocarditis, Glomerulonephritis, Joint swelling, Arthritis, Osteolytic defects of the phalanges o... ORPHA:90291
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Skin rash, Colitis, Arthritis, Esophagitis, Chronic gastriti... OMIM:301074
Lymphatic Filariasis
Knee osteoarthritis, Glomerulonephritis, Orchitis, Lymphadenitis, Ankle swelling, Epididymitis ORPHA:2035
Familial Mediterranean Fever
Peritonitis, Orchitis, Erysipelas, Arthritis, Crohn's disease, Pericarditis OMIM:249100
Giant Cell Arteritis
Pericarditis, Joint stiffness, Arthritis ORPHA:397
Catastrophic Antiphospholipid Syndrome
Myocarditis, Arthritis ORPHA:464343
Simple Cryoglobulinemia
Arthritis, Membranoproliferative glomerulonephritis, Nephritis, Pericarditis, Viral hepatitis ORPHA:91139
Marshall Syndrome
Knee osteoarthritis, Recurrent otitis media OMIM:154780
Hyper-Igd Syndrome
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Serositis OMIM:260920
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Arthritis, Chronic oral candidiasis, Psoriasiform dermatitis, Recurrent aspiration pn... ORPHA:221139
Peritonitis, Myocarditis, Stiff neck, Endocarditis, Pyelonephritis, Pustule, Infectious encephali... ORPHA:533
Peritonitis, Morbilliform rash, Osteolysis, Skin rash, Pancreatitis, Arthritis, Pneumonia, Osteom... ORPHA:228123
Juvenile Dermatomyositis
Skin rash, Arthritis, Limitation of joint mobility, Myositis, Pericarditis ORPHA:93672
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Behçet Disease
Optic neuritis, Orchitis, Endocarditis, Recurrent aphthous stomatitis, Pancreatitis, Keratoconjun... ORPHA:117
Riddle Syndrome
Chronic sinusitis, Arthritis, Recurrent pneumonia, Pneumonia, Otitis media, Recurrent sinusitis ORPHA:420741
Immunoglobulin A Vasculitis
Orchitis, Skin rash, Arthritis, Episcleritis, Infectious encephalitis, Pustule ORPHA:761
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hashimoto thyroiditis, Skin rash, Arthritis, Recurrent otitis media, Panniculitis, Eczema, Erythe... OMIM:615688
Immunodeficiency 82 With Systemic Inflammation
Joint swelling, Skin rash, Colitis, Arthritis, Osteomalacia, Gastritis, Hepatitis, Recurrent otit... OMIM:619381
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Inflammatory abnormality of the skin, Joint swelling, Chronic hepatitis, Pancreatiti... ORPHA:3260
Wiskott-Aldrich Syndrome
Chronic otitis media, Keratitis, Inflammation of the large intestine, Blepharitis, Arthritis, Sin... ORPHA:906
Primary Sjögren Syndrome
Glomerulonephritis, Optic neuritis, Chronic active hepatitis, Chronic hepatitis, Tubulointerstiti... ORPHA:289390
Postinfectious Vasculitis
Gastrointestinal inflammation, Glomerulonephritis, Inflammatory abnormality of the skin, Orchitis... ORPHA:48435
Kawasaki Disease
Myocarditis, Skin rash, Cheilitis, Arthritis, Hepatitis, Cholecystitis, Conjunctivitis, Pericarditis ORPHA:2331
Vascular Ehlers-Danlos Syndrome
Osteolysis, Congenital hip dislocation, Osteoarthritis, Joint dislocation, Periodontitis, Joint h... ORPHA:286
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Acute pancreatitis, Gout ORPHA:412
Blau Syndrome
Camptodactyly of finger, Keratitis, Polyarticular arthritis, Joint swelling, Skin rash, Posterior... ORPHA:90340
Glycogen Storage Disease Ib
Pancreatitis, Osteoporosis, Inflammation of the large intestine, Gout OMIM:232220
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Skin rash, Arthritis, Chilblains, Atrophic gastritis, Hepatitis, Pneumonia OMIM:615846
Glycogen Storage Disease Ia
Pancreatitis, Osteoporosis, Gout OMIM:232200
Autoimmune Lymphoproliferative Syndrome
Glomerulonephritis, Recurrent aphthous stomatitis, Uveitis, Colitis, Arthritis, Gastritis, Hepati... ORPHA:3261
Sitosterolemia 1
Arthritis OMIM:210250
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Arthritis, Osteolytic defects of the phalanges of the hand OMIM:161700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Tubulointerstitial nephritis OMIM:174000
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Hip dislocation, Joint stiffness, Joint swelling, Cheilitis, Osteomalacia, ... ORPHA:534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Gout, Pancreatitis, Osteoporosis, Ulcerative colitis, Osteop... ORPHA:79259
Inflammation of the large intestine, Endocarditis, Skin rash, Abnormality of the elbow, Lymphaden... ORPHA:707
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Arthritis ORPHA:93111
Aicardi-Goutières Syndrome
Arthritis, Chilblains, Multiple joint contractures, Myositis, Panniculitis ORPHA:51
Glycogen Storage Disease Ic
Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis OMIM:232240
22Q11.2 Deletion Syndrome
Chronic otitis media, Multiple suture craniosynostosis, Arthritis, Patellar dislocation, Acne, Se... ORPHA:567
Myocarditis, Chondrocalcinosis, Pericarditis, Arthritis ORPHA:221
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Abnormal calcification of the carpal bones, Progressive calcification of costochondral cartilage,... OMIM:271665
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Uveitis, Arthritis, Bronchiectasis, Iridocyclitis OMIM:181000
Marburg Hemorrhagic Fever
Orchitis, Maculopapular exanthema, Skin rash, Pancreatitis, Uveitis, Arthritis, Pericarditis ORPHA:99826
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of lower limb joint, Neuropathic arthropathy, Septic arthritis, Recurrent aspiration ... ORPHA:642
Fabry Disease
Reduced bone mineral density, Arthritis ORPHA:324
Mucopolysaccharidosis Type 2, Severe Form
Limitation of joint mobility, Flexion contracture, Camptodactyly of finger, Arthritis ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Limitation of joint mobility, Flexion contracture, Camptodactyly of finger, Arthritis ORPHA:217093
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Acute colitis, Pancreatitis, Septic arthritis, Pneumonia ORPHA:544482
Gaisböck Syndrome
Cholecystitis, Gout ORPHA:90041
Gitelman Syndrome
Chondrocalcinosis, Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis ORPHA:358
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Keratoconjunctivitis sicca, Arthritis, Bronchiectasis, Flexion cont... ORPHA:99921
Tetrasomy 9P
Myositis, Pericarditis, Joint dislocation, Arthritis ORPHA:3310
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Keratoconjunctivitis sicca, Arthritis ORPHA:2363
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Chronic otitis media, Joint stiffness, Arthritis ORPHA:93
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Osteopenia, Recurrent otitis media, Recurrent skin infections, Widely pa... 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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