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Gene: Matn3 MGI:1328350

Gene Summary

Name:

matrilin 3

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

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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.

Legacy Phenotype Associated Images

Matn3^tm1Brd
HOM, Female, WTSI

Matn3^tm1Brd
knee, WT, Female, WTSI

View all 185 images

Matn3^tm1Brd
tail skin, WT, Female, WTSI

Matn3^tm1Brd
tail skin, HET, Female, WTSI

Matn3^tm1Brd
tail skin, HOM, Female, WTSI

Matn3^tm1Brd
tail skin, WT, Female, WTSI

Human diseases caused by Matn3 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.

Human diseases associated with Matn3 (5 diseases)
Human diseases predicted to be associated with Matn3 (684 diseases)

The table below shows human diseases associated to Matn3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Multiple Epiphyseal Dysplasia Type 5	Arthralgia of the hip, Abnormality of the epiphyses of the feet, Abnormal upper limb epiphysis mo...	ORPHA:93311
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo...	OMIM:608728
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728

The table below shows human diseases predicted to be associated to Matn3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific...	OMIM:105835
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Coxa valga, Hip dysplasia	OMIM:615612
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Beukes Hip Dysplasia	Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi...	OMIM:142669
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Upington Disease	Arthralgia of the hip, Broad femoral neck, Multiple enchondromatosis, Flattened femoral head	OMIM:191520
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joint mobility, Short toe...	ORPHA:2619
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Small epiphyses, Abno...	OMIM:600969
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb, Osteoarthritis	ORPHA:435804
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n...	ORPHA:93308
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Hip osteoarthritis, Osteoarthritis, Flattened metacarpal heads	OMIM:271600
Epiphyseal Dysplasia, Multiple, 6	Arthralgia of the hip, Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Irreg...	OMIM:614135
Genochondromatosis Type 1	Multiple enchondromatosis	ORPHA:85197
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis	ORPHA:97332
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Calcification of cartilage, J...	ORPHA:1416
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st...	ORPHA:1525
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti...	ORPHA:563991
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De...	OMIM:611497
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Abnormal femoral neck/head morphology, Limited hip movement, Flattened femora...	ORPHA:86820
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Short middle phalanx of ...	ORPHA:63442
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al...	ORPHA:750
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormal pelvis bone morphology, Osteoarthritis	ORPHA:2206
Mueller-Weiss Syndrome	Joint subluxation, Tibiofibular diastasis, Tibial torsion, Abnormality of the os naviculare pedis...	ORPHA:566943
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Tibial torsion, Irregular epiphyses, Small epiphyses, Osteochondritis disse...	OMIM:600204
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Dysplasia Epiphysealis Hemimelica	Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Joint stiff...	ORPHA:1822
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor...	ORPHA:166002
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Osteoarthritis	ORPHA:93283
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand	OMIM:619248
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m...	ORPHA:85435
Enchondromatosis, Multiple, Ollier Type	Multiple enchondromatosis, Abnormal long bone morphology	OMIM:166000
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
Osteoarthritis With Mild Chondrodysplasia	Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node	OMIM:604864
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes...	OMIM:208250
Spondylosis, Cervical	Spina bifida occulta, Osteoarthritis	OMIM:184300
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal...	OMIM:208230
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mobility, Upper li...	ORPHA:93351
Glycoprotein Storage Disease	Gout	OMIM:232900
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Abnormal femur morphology, Joint hypermobility...	ORPHA:429
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Brachydactyly, Osteoarthritis	ORPHA:2762
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Limited wrist movement, ...	OMIM:127300
Dysspondyloenchondromatosis	Joint dislocation, Genu valgum, Metaphyseal enchondromatosis, Generalized joint hypermobility, Ab...	ORPHA:85198
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Flattened femoral head, Hip osteoarthritis, Broad femoral neck, Arthralgia of the hip, Wide dista...	ORPHA:99642
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis	ORPHA:66630
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Broad hallux, Short thumb, Premature osteoarthritis, Osteochondritis dissecan...	OMIM:165800
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea...	ORPHA:174
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Multiple Epiphyseal Dysplasia Type 5	Arthralgia of the hip, Abnormality of the epiphyses of the feet, Abnormal upper limb epiphysis mo...	ORPHA:93311
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm...	OMIM:249710
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormality of tibial epiphyses, Arthralgia of the hip, Metaphyseal spurs, Abnormal hand metaphys...	ORPHA:166011
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Premature osteoarthritis, Enlarged epiphyses	OMIM:184840
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys...	OMIM:177170
Spondyloepimetaphyseal Dysplasia, Irapa Type	Broad femoral neck, Upper limb undergrowth, Genu valgum, Limited elbow extension, Metaphyseal dys...	OMIM:271650
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia	OMIM:611263
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Osseous Heteroplasia, Progressive	Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue	OMIM:166350
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowing, Limited e...	OMIM:602111
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Joint di...	ORPHA:53
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys...	ORPHA:93284
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Fibular Aplasia-Complex Brachydactyly Syndrome	Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Limitation of joint mobili...	ORPHA:2639
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Eng-Strom Syndrome	Brachydactyly, Arthritis, Camptodactyly of finger	ORPHA:1937
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis	OMIM:192950
Dermatoosteolysis, Kirghizian Type	Keratitis, Abnormal diaphysis morphology, Abnormality of the wrist, Brachydactyly, Osteoarthritis...	ORPHA:1657
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ...	ORPHA:79106
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility	OMIM:130020
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Flattened epiphysis, Advanced ossific...	OMIM:251450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Limitation of joint mobility, Abnormal j...	ORPHA:1427
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Microgn...	OMIM:614078
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis	OMIM:616833
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Polyarticular arthropathy, ...	ORPHA:2848
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Abnormal shoulder morphology, Abnormal hip joint morphology, ...	ORPHA:85408
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Osteoarthritis	ORPHA:166100
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Radial bowing, Premature osteoarthrit...	ORPHA:93314
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Osteoarthritis, Joint hyp...	ORPHA:90653
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap...	OMIM:307800
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia	ORPHA:1277
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Radial bowing, Premature osteoarthritis, Dislocation of the femoral...	ORPHA:93307
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Camptodactyly of finger, Abnormal hip bone morphology, Bowing of t...	ORPHA:2631
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Genu valgum, Short ribs, Joint hypermobility, Limb underg...	ORPHA:1803
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Ollier Disease	Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m...	ORPHA:296
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Micromelia, Short palm, Coxa vara	ORPHA:168555
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi...	OMIM:607634
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo...	OMIM:608728
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Limited mobility of proximal interphalangeal joint,...	ORPHA:85438
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Osteoarthritis	ORPHA:1345
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Acrocephalopolydactyly	Genu recurvatum, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ...	ORPHA:356961
Nievergelt Syndrome	Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal s...	OMIM:163400
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,...	ORPHA:968
Kyphomelic Dysplasia	Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Missing ribs, Bowing of ...	ORPHA:1801
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobility, Epiphyseal stippling, Li...	ORPHA:177
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Joint stiffness, Talipes, Hypoplas...	ORPHA:2249
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Recurrent pneumonia, F...	OMIM:215150
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Hip dislo...	OMIM:268305
Melorheostosis	Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m...	ORPHA:2485
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca...	ORPHA:2633
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Ulnar deviation of finger, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of f...	ORPHA:2928
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage, Microretrognathia	ORPHA:2867
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ...	ORPHA:2741
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Enlarged epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Distal ulnar epiphyseal ...	OMIM:609616
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph...	ORPHA:93352
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol...	ORPHA:1106
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner...	ORPHA:1508
Mucopolysaccharidosis, Type Ix	Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti...	OMIM:601492
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Failure to thrive, Sandal gap, Short humerus, Short ribs, Talipes equino...	OMIM:607143
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi...	OMIM:618961
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Ulnar deviate...	OMIM:164900
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Odontochondrodysplasia 1	Mesomelia, Genu recurvatum, Metaphyseal cupping, Micromelia, Irregular epiphyses, Cone-shaped epi...	OMIM:184260
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R...	OMIM:608654
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Odontochondrodysplasia	Cone-shaped epiphysis, Square pelvis bone, Micromelia, Joint hypermobility, Bowing of the long bo...	ORPHA:166272
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, J...	OMIM:618000
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Abnormal epiphysis morphology, Failure to thrive, Abnormal diaphysis morphology, Micr...	ORPHA:1842
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Hip dislocation, Dumbbell-shaped femur, Limitation o...	OMIM:156550
Dracunculiasis	Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc...	ORPHA:231
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Acromesomelic Dysplasia, Maroteaux Type	Joint stiffness, Joint hypermobility, Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Bronchiectasis, Osteoarthritis, Joint hypermobility	OMIM:620080
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Greenberg Dysplasia	Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Decreased skull ossifica...	ORPHA:1426
Achondroplasia	Rhizomelia, Hip joint hypermobility, Obesity, Trident hand, Limited elbow extension, Knee joint h...	ORPHA:15
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti...	OMIM:601559
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility, Hypoplasia of the capital femoral epiphysis, Hy...	OMIM:313400
Morgagni-Stewart-Morel Syndrome	Osteoporosis, Acne, Osteoarthritis, Hyperostosis frontalis interna	ORPHA:77296
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Laron Syndrome	Brachydactyly, Short toe, Osteoarthritis, Abnormality of the elbow	ORPHA:633
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera...	OMIM:601356
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Toe syndactyly, Elbow flexion contracture, Hip contracture, Knee flexion contracture,...	OMIM:616809
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe...	OMIM:620076
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Micromelia, C...	ORPHA:474
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Broad long bones, Recurrent fractures, Tibial bowing, Lim...	OMIM:166210
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Femoral ...	OMIM:600785
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Abnormal epiphysis morphology, Craniofacial osteosclerosis, ...	ORPHA:324964
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short phalanx of f...	OMIM:180870
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Osteomyelitis, Micrognathia, Recurrent fractures, Tibial bowing, Congenital...	ORPHA:453510
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati...	ORPHA:93296
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Broad phalanx, ...	ORPHA:56304
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Squared iliac bones, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi...	ORPHA:2378
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti...	OMIM:604416
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Microme...	OMIM:151210
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bones, Mesomelic/r...	ORPHA:2347
Mesomelia-Synostoses Syndrome	Synostosis of joints, Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal b...	ORPHA:2496
Hemochromatosis, Type 4	Osteoarthritis	OMIM:606069
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas...	OMIM:616300
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Joint stiffness, Irregular femoral epiphysis, Arthropathy,...	OMIM:108300
Trichorhinophalangeal Syndrome, Type I	Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Clinodactyly, Swelling of ...	OMIM:190350
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Advanced tarsal ossification, Micrognathia, Short ribs, Generalize...	OMIM:215045
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Joint swelling, Osteolytic defects of the phalanges of th...	OMIM:228000
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Mul...	OMIM:300244
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal trabecularization, Camptodactyly o...	ORPHA:2635
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Postaxial polydactyly, Flat ace...	OMIM:617102
Shox-Related Short Stature	Obesity, Micrognathia, Genu valgum, Tibial bowing, Ulnar radial head dislocation, Lower limb unde...	ORPHA:314795
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Micromelia, Abnormal epiphysis morphol...	ORPHA:628
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Recurrent sinusitis, Joint hypermobility, Osteoarthritis, Hyperextensibility o...	OMIM:130000
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal femur morphology, Abnormal morphology of the radiu...	ORPHA:93329
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Recurrent fractures, Decreased calvarial ossification,...	OMIM:616229
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo...	ORPHA:321
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Obesity, Genu valgum, Joint hypermobility, Arachnodactyly	ORPHA:1035
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Limitation of joint mobility, Arthritis	ORPHA:2582
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog...	ORPHA:3429
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Joint hypermobility, Brachydactyly, M...	OMIM:612813
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis	ORPHA:567544
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology	ORPHA:1522
Melioidosis	Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Prostatitis, Acute infect...	ORPHA:31202
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Abnormality of the ankle, Joint hypermobility, Knee osteoarthritis, Oligoar...	ORPHA:85410
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Tracheomalacia	OMIM:245650
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Failure to thrive, Joint stiffness, Limb undergrowth, Brachydactyl...	ORPHA:2107
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Narrow iliac wing, Flared metaphysis, Equinovarus deformity, Short long bone, Aplasia/Hypoplasia ...	ORPHA:2502
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Narrow pelvis bone, Long hallu...	OMIM:600002
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,...	OMIM:613320
Acrodysostosis	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Short toe, Micromelia, Abnormal diaphysi...	ORPHA:950
Image Syndrome	Micromelia, Metaphyseal dysplasia	ORPHA:85173
Wild Type Abeta2M Amyloidosis	Abnormal shoulder morphology, Bone cyst, Arthritis, Arthropathy	ORPHA:85446
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movem...	OMIM:258315
Schneckenbecken Dysplasia	Hypoplastic scapulae, Advanced tarsal ossification, Short ribs, Limb undergrowth, Dumbbell-shaped...	OMIM:269250
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Abnormal hip bone morphology, Abnormal thumb morphol...	ORPHA:1597
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis	OMIM:601457
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovarus deformity, B...	OMIM:224400
Papa Syndrome	Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Myositis, Pustule...	ORPHA:69126
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Br...	OMIM:187601
Roifman-Chitayat Syndrome	Pneumonia, Osteopenia, Cone-shaped epiphysis, Arthritis, Short metatarsal, Short metacarpal	OMIM:613328
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys...	OMIM:618019
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Limitation of joint mobility, Micromelia, Clubbing of fingers, Broad long bones...	ORPHA:1865
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, Postaxial hand polydactyly	ORPHA:2491
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:793
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Decreased sk...	OMIM:616897
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, A...	ORPHA:3320
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Short ribs, Fibular hypoplasia, Postaxial polyda...	OMIM:617925
Axial Spondylometaphyseal Dysplasia	Flattened femoral head, Abnormal ilium morphology, Osteopenia, Aplasia/Hypoplasia of the vertebra...	ORPHA:168549
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Genu valgum, Osteopetrosis, Decrea...	OMIM:259710
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Atelosteogenesis Type I	Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equinovarus, Lim...	ORPHA:1190
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Tibial Hemimelia	Absent tibia	OMIM:275220
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Fibular bowing, F...	OMIM:600081
Caffey Disease	Joint hypermobility, Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs	OMIM:114000
Isolated Agammaglobulinemia	Pneumonia, Otitis media, Skin rash, Clinodactyly of the 5th toe, Arthritis, Sinusitis, Inflammato...	ORPHA:229717
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di...	OMIM:620663
X-Linked Hypophosphatemia	Flattening of the talar dome, Shortening of the talar neck, Abnormal epiphysis morphology, Limita...	ORPHA:89936
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Failure to thrive, Clinoda...	OMIM:211750
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossification, Broad long bone...	ORPHA:1422
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Bowing of the long bones, Arthritis, Hip dysplas...	ORPHA:61
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal...	ORPHA:1860
Kniest Dysplasia	Enlarged metaphyses, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dumbbel...	ORPHA:485
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer...	OMIM:211350
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Thanatophoric Dysplasia	Abnormal ilium morphology, Micromelia, Joint stiffness, Joint hypermobility, Abnormal sacroiliac ...	ORPHA:2655
Achondrogenesis, Type Ib	Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Micromelia, Short ribs	OMIM:600972
Acromesomelic Dysplasia 4	Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, Prominent deltoid t...	OMIM:619636
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Achondrogenesis Type 1A	Micromelia, Abnormal enchondral ossification, Micrognathia, Short foot, Recurrent fractures, Shor...	ORPHA:93299
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
ERI1-related disease	Osteopenia, Hip dislocation, Failure to thrive, Slender metacarpals, Oligodactyly, Micrognathia, ...	OMIM:608739
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis	ORPHA:85414
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Bronchiectasis	OMIM:620321
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste...	OMIM:259100
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Schwartz-Jampel Syndrome, Type 1	Abnormal femoral epiphysis morphology, Congenital hip dislocation, Joint contracture of the hand,...	OMIM:255800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small...	ORPHA:96334
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis	OMIM:609939
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Schnitzler Syndrome	Increased bone mineral density, Skin rash, Arthritis	ORPHA:37748
Achondrogenesis Type 1B	Abnormal enchondral ossification, Micromelia, Micrognathia, Talipes equinovarus, Short foot	ORPHA:93298
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Polyarticular arthritis, Sacroiliac arthritis, Abnormal sh...	ORPHA:85436
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn...	ORPHA:3035
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth	OMIM:614209
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Sandal gap, Knee dislocation, Mic...	OMIM:108721
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Metatarsal periosteal thickening, Metacarpal periosteal thickening, Perioste...	OMIM:161700
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phalanx, Short foo...	OMIM:166250
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Joint hypermobility, Brachydactyly, Mesomelia	ORPHA:171866
Hemophilia A	Joint hemorrhage, Osteoarthritis	OMIM:306700
Gaucher Disease Type 1	Osteopenia, Erlenmeyer flask deformity of the femurs, Pathologic fracture, Osteoarthritis, Osteop...	ORPHA:77259
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu v...	OMIM:618870
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me...	ORPHA:93333
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi...	ORPHA:371428
Felty Syndrome	Recurrent pneumonia, Limitation of joint mobility, Abnormal joint morphology, Osteolysis, Episcle...	ORPHA:47612
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Arthritis	OMIM:616414
Alkaptonuria	Joint dislocation, Calcification of cartilage, Joint stiffness, Increased susceptibility to fract...	ORPHA:56
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr...	ORPHA:33110
Nail-Patella Syndrome	Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell...	ORPHA:2614
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Micrognathia, Split hand, Brachydactyly, Craniosynostosis	ORPHA:2145
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Arthritis, Skin rash, Erythema nodosum	OMIM:611762
Cardioacrofacial Dysplasia 2	Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Recurrent patellar disl...	OMIM:619143
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys...	OMIM:210720
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Micromelia, Failure to thrive, Increased suscep...	OMIM:241500
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Joint contracture of the hand, ...	OMIM:228520
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Campomelic Dysplasia	Small abnormally formed scapulae, Tracheomalacia, 11 pairs of ribs, Micrognathia, Femoral bowing,...	ORPHA:140
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Osteomyelitis, Increased susceptibility to fractures,...	ORPHA:77297
Hemophilia B	Joint hemorrhage, Osteoarthritis	OMIM:306900
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Short ribs, Missing ...	OMIM:617866
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Pachydermoperiostosis	Small hand, Clubbing of toes, Limitation of joint mobility, Abnormal epiphysis morphology, Eczema...	ORPHA:2796
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Short ribs, Postaxial hand ...	OMIM:241800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Short metacarp...	OMIM:271665
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Thanatophoric Dysplasia Type 2	Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Abnormal metaphysis...	ORPHA:93274
Osteogenesis Imperfecta	Abnormal tibia morphology, Genu valgum, Decreased skull ossification, Bowing of the long bones, D...	ORPHA:666
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Familial Cold Autoinflammatory Syndrome 1	Conjunctivitis, Skin rash, Arthritis, Uveitis	OMIM:120100
3M Syndrome	Hypoplastic ischia, Congenital hip dislocation, Micromelia, Slender long bone, Hypoplastic pelvis...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Osteopenia, Rhizomelia, Small epiphyses, Genu valgum, Limited elbow extension, Metaphy...	OMIM:271510
Osteopetrosis, Autosomal Recessive 1	Flared metaphysis, Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial o...	OMIM:259700
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o...	OMIM:618162
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectasis	ORPHA:397596
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Lower limb asymmetry, Micromelia	ORPHA:64755
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,...	ORPHA:3258
Idiopathic Camptocormia	Myositis, Myelitis, Osteoarthritis, Abnormal inflammatory response	ORPHA:1320
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Joint hypermobility	ORPHA:2220
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic sacrum, Abnormal femoral metaphysi...	OMIM:200600
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Joint contracture of the hand, Delayed cranial suture closure, Premature os...	OMIM:611962
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hypermobil...	OMIM:619656
Marshall Syndrome	Genu valgum, Osteoarthritis	ORPHA:560
Pfapa Syndrome	Arthritis, Infectious encephalitis	ORPHA:42642
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Loeys-Dietz Syndrome 5	Bilateral coxa valga, Joint hypermobility, Arachnodactyly, Eosinophilic infiltration of the esoph...	OMIM:615582
Lesch-Nyhan Syndrome	Gout	ORPHA:510
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300554
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Short ribs, Fibular hypoplasia, Hypoplastic v...	ORPHA:3144
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Joint contracture of the hand, Hypoplastic iliac wing, Dislocat...	OMIM:260660
Osteogenesis Imperfecta, Type Iii	Slender long bone, Micrognathia, Protrusio acetabuli, Bowing of limbs due to multiple fractures, ...	OMIM:259420
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro...	OMIM:164745
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phalanx of...	ORPHA:319675
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Short ribs, Postaxial polydactyly, Brachydactyly, Hypoplasia of the...	OMIM:617895
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ...	OMIM:617321
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Zika Virus Disease	Myelitis, Ankle swelling, Wrist swelling, Skin rash, Infectious encephalitis, Arthritis, Conjunct...	ORPHA:448237
Brucellosis	Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha...	ORPHA:1304
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho...	OMIM:301054
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Micromelia, Short foot, Short palm	ORPHA:238750
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Patent ductus...	OMIM:230600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Joint stiffness, Femoral bowing...	OMIM:608940
Marshall Syndrome	Hypoplastic ilia, Radial bowing, Recurrent otitis media, Irregular femoral epiphysis, Clinodactyl...	OMIM:154780
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp...	ORPHA:50945
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Micromelia, Genu valgum, Micrognathia, Fibular bowing, Tibial bowing, Gen...	OMIM:613848
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Short pa...	ORPHA:175
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Cervical subluxation, Avascular necrosis of the capital femoral epiphysis, Arthritis	OMIM:184100
Dpm1-Cdg	Sandal gap, Failure to thrive, Long hallux, Micrognathia, Knee flexion contracture, Limb undergro...	ORPHA:79322
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, C...	ORPHA:47
Eosinophilic Fasciitis	Myositis, Arthritis, Fasciitis	ORPHA:3165
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan...	ORPHA:31205
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling...	OMIM:186580
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia, Ulnar bowing	ORPHA:1765
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Hemochromatosis, Type 2A	Arthritis	OMIM:602390
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Short palm, Flat acetabular ...	OMIM:300106
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limb undergrowth, Brachydactyly, Short foot, Limite...	OMIM:617809
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Coxa vara	OMIM:601344
Gm1 Gangliosidosis	Coarse metaphyseal trabecularization, Failure to thrive, Abnormal diaphysis morphology, Camptodac...	ORPHA:354
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Failure to thrive, Camptodactyly of finger, Osteomalacia, Joint stiffness...	ORPHA:2176
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ...	ORPHA:1798
Osteopathia Striata-Cranial Sclerosis Syndrome	High iliac wing, Coarse metaphyseal trabecularization, Delayed cranial suture closure, Increased ...	ORPHA:2780
Familial Cold Urticaria	Conjunctivitis, Arthritis	ORPHA:47045
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Patent ductus arteriosus, Limb undergrowth, Joint contracture, Hip...	OMIM:618005
Muckle-Wells Syndrome	Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Arthritis, Conju...	ORPHA:575
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal epiphysis morphology, Micromelia, Hypoplastic iliac wing, Joint hypermobility, Brachydac...	ORPHA:2637
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Micrognathia, Bowing of the long bones, Talipes equinovarus, Short long bone	OMIM:224410
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, D...	ORPHA:39812
Cinca Syndrome	Patellar overgrowth, Skin rash, Arthritis, Uveitis	OMIM:607115
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper...	ORPHA:284984
Boomerang Dysplasia	Fibular aplasia, Hypoplastic iliac body, Absent radius	OMIM:112310
Rheumatoid Arthritis	Rheumatoid arthritis, Polyarticular arthritis, Joint stiffness, Interphalangeal joint erosions, J...	OMIM:180300
Familial Mediterranean Fever	Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, Pericarditis	ORPHA:342
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Talipes, Limb undergrowth, Flexion contracture, Small for gestational age	ORPHA:79243
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Polyarticular arthritis, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculop...	OMIM:142680
Pycnodysostosis	Coronal craniosynostosis, Small hand, Rhizomelia, Lower limb asymmetry, Acromelia, Short finger, ...	ORPHA:763
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ...	ORPHA:958
Hemochromatosis, Type 3	Arthritis	OMIM:604250
Robinow Syndrome, Autosomal Recessive 2	Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Micrognathia, Brac...	OMIM:618529
Moderate Hemophilia A	Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Cartilage ...	ORPHA:169805
Seckel Syndrome 1	Ivory epiphyses, Hip dislocation, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contra...	OMIM:210600
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti...	ORPHA:29207
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hypermobility, Recurrent fractures, Micromelia, Decreased calvarial ossification	ORPHA:2772
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Short r...	ORPHA:2021
Achondrogenesis	Abnormality of bone mineral density, Micrognathia, Abnormal enchondral ossification, Micromelia	ORPHA:932
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:270150
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Uveitis,...	OMIM:614700
Gaucher Disease	Osteopenia, Joint dislocation, Hepatitis, Osteolysis, Pathologic fracture, Osteomyelitis, Joint s...	ORPHA:355
Stickler Syndrome	Abnormal epiphysis morphology, Proximal femoral epiphysiolysis, Abnormal diaphysis morphology, Jo...	ORPHA:828
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Adult-Onset Still Disease	Hepatitis, Interstitial pneumonitis, Skin rash, Joint swelling, Myocarditis, Arthritis, Cartilage...	ORPHA:829
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Kagami-Ogata Syndrome	Micrognathia, Limb undergrowth, Long fingers, Flexion contracture, Patent ductus arteriosus, Coxa...	OMIM:608149
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Osteomyelitis, Arthritis	OMIM:619423
Osteogenesis Imperfecta, Type Viii	Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Recurrent fractures, Tibial bowing,...	OMIM:610915
Anti-Glomerular Basement Membrane Disease	Arthritis	ORPHA:375
Scedosporiosis	Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica...	ORPHA:449280
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Overlapping toe, Micrognathia, Knee flexion contracture, Postaxial pol...	ORPHA:435638
Immunodeficiency 68	Septic arthritis, Recurrent skin infections, Lymphadenitis	OMIM:612260
Pyknoachondrogenesis	Abnormal intramembranous ossification, Short iliac bones, Micromelia, Sclerosis of skull base, Sh...	ORPHA:3003
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Psoriasis 14, Pustular	Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Cholangitis	OMIM:614204
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Skin rash, Myositis, Arthritis, Sinusitis, Conjunctivitis, Flexion contracture, ...	OMIM:617591
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Broad foot, Short ribs, Limb un...	OMIM:269860
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Crohn's disease, Arthritis, B...	OMIM:616100
Microlissencephaly-Micromelia Syndrome	Adducted thumb, Micromelia, Failure to thrive, 11 pairs of ribs	ORPHA:50810
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Short toe, Micrognathia, Joint hypermobility, Limb undergrowth, Short phalanx of fing...	OMIM:225410
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Osteopetrosis, Increased bone mineral density	OMIM:617306
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Narrow foramen obturatorium, Osteolysis, Arthritis	ORPHA:220393
Mixed Connective Tissue Disease	Joint stiffness, Skin rash, Joint swelling, Myositis, Gastritis, Keratoconjunctivitis sicca, Arth...	ORPHA:809
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent otitis media, Membranous nephropathy, Arthritis, Recurrent sinusitis	OMIM:615559
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Glutamine Deficiency, Congenital	Camptodactyly, Flexion contracture, Micromelia	OMIM:610015
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Bowing of the long bones, Brachydactyly, Abnormally ossified vertebrae	ORPHA:1318
Lyme Disease	Infectious encephalitis, Joint swelling, Arthritis, Uveitis	ORPHA:91546
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Micromelia, Brachydactyly, Short metacarpal	OMIM:600092
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ...	ORPHA:488434
Leukocyte Adhesion Deficiency, Type Iii	Recurrent skin infections, Osteopetrosis	OMIM:612840
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Micrognathia...	OMIM:200980
Takayasu Arteritis	Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis	ORPHA:3287
Kid Syndrome	Posterior blepharitis, Folliculitis, Acne inversa, Patellar hypoplasia, Keratitis, Psoriasiform d...	ORPHA:477
Complement Factor I Deficiency	Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis...	OMIM:610984
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A...	OMIM:203500
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Skin rash, Arthritis, Inflammatory abnormality of the eye, Conju...	ORPHA:36412
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Skin rash, Osteoarthritis	ORPHA:2298
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Micromelia, Crumpled long bones, Recurrent fractures, Decreased calvarial...	OMIM:610682
Wilson Disease	Chondrocalcinosis, Osteomalacia, Joint hypermobility, Atypical or prolonged hepatitis, Osteoarthr...	OMIM:277900
Aminopterin/Methotrexate Embryofetopathy	Micromelia, Finger syndactyly, Micrognathia, Talipes, Aplasia/Hypoplasia of the thumb, Mesomelia	ORPHA:1908
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Broad thumb, Clinodactyly, Micrognathia, Partial duplication of t...	OMIM:616331
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati...	OMIM:618476
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Joint swelling, Arthropathy, Abnormal metacarpophalangeal joint morphology, Arth...	ORPHA:465508
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczematoid dermatitis	OMIM:617780
Spondyloenchondrodysplasia	Short distal phalanx of finger, Hypoplastic ilia, Limb undergrowth, Metaphyseal dysplasia, Arthri...	ORPHA:1855
Localized Scleroderma	Fasciitis, Sclerosis of finger phalanx, Esophagitis, Hashimoto thyroiditis, Arthritis, Flexion co...	ORPHA:90289
Autoimmune Hepatitis	Inflammation of the large intestine, Sclerosing cholangitis, Glomerulonephritis, Arthritis, Acute...	ORPHA:2137
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited wrist movement, Limited hip movement, Joint stiffness, Limi...	ORPHA:740
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art...	ORPHA:727
Marfan Syndrome	Genu recurvatum, Premature osteoarthritis, Equinus calcaneus, Limited elbow extension, Joint hype...	OMIM:154700
Antisynthetase Syndrome	Joint dislocation, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis	ORPHA:81
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Failure to thrive, Short thumb, Carpal synostosis, Preaxial polydacty...	ORPHA:90652
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Join...	OMIM:613795
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo...	ORPHA:36234
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Delayed...	ORPHA:2658
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis	OMIM:259730
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Stüve-Wiedemann Syndrome	Osteopenia, Absent patellar reflexes, Limitation of joint mobility, Micromelia, Camptodactyly of ...	ORPHA:3206
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he...	OMIM:307200
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Micrognathia, Fibular bowing, Tibial bowing, Postax...	OMIM:612651
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Classical Ehlers-Danlos Syndrome	Osteopenia, Shoulder dislocation, Joint swelling, Generalized joint hypermobility, Phalangeal dis...	ORPHA:287
Orofaciodigital Syndrome Vi	Toe syndactyly, Failure to thrive, Clinodactyly, Preaxial hand polydactyly, Radial deviation of f...	OMIM:277170
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr...	ORPHA:580
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Delayed epiphyseal ossification, Micrognathia, Hip contracture, Bowing of th...	OMIM:210710
Chikungunya	Periostitis, Joint stiffness, Skin rash, Maculopapular exanthema, Joint swelling, Crusting erythe...	ORPHA:324625
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Femoral bowing, Tibial bowing, Palmoplantar cutis laxa, Wide anterior fontanel, Mesom...	OMIM:616482
Schisis Association	Micromelia, Small for gestational age	ORPHA:63862
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p...	ORPHA:3103
Farber Disease	Short toe, Short finger, Abnormality of the wrist, Joint swelling, Arthritis, Abnormality of the ...	ORPHA:333
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout	OMIM:617056
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Limitation of joint mobility, Elbow dislocation, Osteolysis, Abnormality of th...	ORPHA:285
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Wilson Disease	Hepatitis, Pathologic fracture, Joint swelling, Arthritis, Acute hepatitis	ORPHA:905
Rheumatic Fever	Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis	ORPHA:3099
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Erythroderma, Glomerulonephritis, Arthritis	OMIM:304790
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Osteopenia, Short distal phalanx of the thumb, Cone-shaped epiphy...	ORPHA:221139
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist...	OMIM:146510
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Peritonitis, Limitation of joint mobility, Arthritis	ORPHA:343
Slc39A8-Cdg	Osteopenia, Cutaneous syndactyly of toes, Failure to thrive in infancy, Elbow flexion contracture...	ORPHA:468699
Acromegaly	Macrodactyly, Joint swelling, Cortical diaphyseal thickening of the upper limbs, Osteoarthritis, ...	ORPHA:963
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Micrognathia, Genu valgum, Hip contracture, Decreased body we...	ORPHA:800
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis	ORPHA:411543
Relapsing Polychondritis	Uveitis, Limitation of joint mobility, Hepatitis, Conjunctivitis, Keratitis, Chondritis, Recurren...	ORPHA:728
Severe Hemophilia A	Limitation of joint mobility, Progressive joint destruction, Joint swelling, Synovitis, Limb join...	ORPHA:169802
Behcet Syndrome	Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis	OMIM:109650
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Absent crus of helix, Failure to thrive, Finger syndactyly, Prea...	ORPHA:2753
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication...	OMIM:236680
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Brachydactyly, Syndactyly	OMIM:614800
Reynolds Syndrome	Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis	ORPHA:779
Desmosterolosis	Micromelia, Failure to thrive, Micrognathia, Talipes, Osteopetrosis, Metatarsus adductus, Increas...	ORPHA:35107
Somatomammotropinoma	Macrodactyly, Joint swelling, Cortical diaphyseal thickening of the upper limbs, Osteoarthritis, ...	ORPHA:314769
Overlap Myositis	Rheumatoid arthritis, Subluxation of the small joints of the hand, Finger swelling, Arthritis	ORPHA:206572
Fusariosis	Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A...	ORPHA:228119
Congenital Syphilis	Pneumonia, Periostitis, Keratitis, Tibial bowing, Synovitis, Osteochondrosis, Pancreatitis, Myoca...	ORPHA:499009
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Erythroderma, Eczematoid dermatitis	OMIM:619510
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Increased inflammatory response, Myositis, Myocarditis, Arthritis, Sinusitis, Tubuloin...	ORPHA:183
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Craniofacial osteosclerosis, Failure to thrive, Tracheomalacia, Fi...	OMIM:300373
Generalized Pustular Psoriasis	Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Uveitis	ORPHA:247353
Kinsship Syndrome	Osteopenia, Failure to thrive, Micrognathia, Polydactyly, Fibular hypoplasia, Coxa valga, Pes pla...	OMIM:619297
Adiposis Dolorosa	Recurrent skin infections, Arthritis	ORPHA:36397
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Micrognath...	OMIM:263650
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal sacroiliac j...	ORPHA:32960
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Synostosis of carpal bone...	ORPHA:289
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Malar rash, Skin rash, Myositis, Arthritis	ORPHA:93552
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Arthritis, Viral hepatitis	ORPHA:91138
Coccidioidomycosis	Pneumonia, Folliculitis, Morbilliform rash, Osteomyelitis, Abnormal long bone morphology, Skin ra...	ORPHA:228123
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Short iliac bones, Recurrent otitis media, Metaphyseal sclerosis...	OMIM:607944
Hydrolethalus	Micrognathia, Micromelia, Postaxial hand polydactyly	ORPHA:2189
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly, Truncal obesity, Pes cavus	OMIM:616541
Dowling-Degos Disease	Acne inversa, Arthritis	ORPHA:79145
Whipple Disease	Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis	ORPHA:3452
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Pyoderma Gangrenosum	Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule	ORPHA:48104
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Abnormal metacarpal morphology, Large hands, Aplasia/hypoplasia of th...	ORPHA:2636
Mosaic Trisomy 9	Limitation of joint mobility, Micromelia, Finger clinodactyly, Camptodactyly of finger, Deep plan...	ORPHA:99776
Systemic Sclerosis	Finger swelling, Abnormal phalangeal joint morphology of the hand, Osteomyelitis, Joint swelling,...	ORPHA:90291
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Brachydactyly, Short palm	ORPHA:3015
Osteopetrosis, Autosomal Recessive 5	Flared metaphysis, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count, Increased bon...	OMIM:259720
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Hereditary Xanthinuria	Rheumatoid arthritis, Gout, Arthropathy	ORPHA:3467
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, 11 pairs of ribs, 2-3 toe syndactyly, Limb undergrowth, Broad toe, Osteoporosis, Br...	ORPHA:488632
Polymyositis	Chondrocalcinosis, Arthritis, Pericarditis	ORPHA:732
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ...	OMIM:218330
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Brachydactyly, Camptodactyly, Short phalanx of finger, P...	OMIM:616894
Apert Syndrome	Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Cervical C5/C6 vertebrae fusion, Apla...	ORPHA:87
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Recurrent pneumonia, Osteopetrosis	OMIM:612301
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Reduced bone mineral density, Otitis media, Chronic rhinitis, Bowi...	ORPHA:667
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial deviation ...	OMIM:180700
Chromosome 14Q11-Q22 Deletion Syndrome	Failure to thrive, Micrognathia, Hip subluxation, Patent ductus arteriosus, Mesomelia	OMIM:613457
8Q24.3 Microdeletion Syndrome	Talipes, Short hallux, Pes planus, Patent ductus arteriosus, Short 5th finger, Abnormal cricoid c...	ORPHA:508488
Glycogen Storage Disease Vii	Gout	OMIM:232800
Congenital Tufting Enteropathy	Punctate keratitis, Arthritis	ORPHA:92050
Cornelia De Lange Syndrome 1	Finger aplasia, Micromelia, Hypoplastic radial head, Elbow flexion contracture, Micrognathia, Lim...	OMIM:122470
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Inflammatory abnormality of the skin, Ankle swelling, Eczematoid dermatitis, Swell...	ORPHA:3260
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ...	ORPHA:3243
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec...	OMIM:300755
Raine Syndrome	Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Brachydactyly, Increased bone mi...	OMIM:259775
Shigellosis	Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute colitis...	ORPHA:810
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis, Short h...	ORPHA:3404
Immunodeficiency 67	Septic arthritis	OMIM:607676
Autosomal Recessive Robinow Syndrome	Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Br...	ORPHA:1507
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Hyperostosis,...	ORPHA:906
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,...	OMIM:301074
Developmental And Epileptic Encephalopathy 89	Talipes equinovarus, Flexion contracture, Microretrognathia, Limb undergrowth	OMIM:619124
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Limb undergrowth, Small for gestational age, Failure to thrive	ORPHA:99843
Lymphatic Filariasis	Ankle swelling, Lymphadenitis, Orchitis, Knee osteoarthritis, Glomerulonephritis, Epididymitis	ORPHA:2035
Robinow Syndrome	Acromesomelia, Short distal phalanx of finger, Micrognathia, Missing ribs, Bifid distal phalanx o...	ORPHA:97360
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Pustular rash, Hepatitis, Osteomalacia, Recurrent otitis media, Osteomyelitis, Skin ra...	OMIM:619381
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia...	OMIM:256520
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs, Postaxial polydactyly	OMIM:616546
Giant Cell Arteritis	Joint stiffness, Arthritis, Pericarditis	ORPHA:397
Listeriosis	Pneumonia, Arteritis, Stiff neck, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious enceph...	ORPHA:533
Familial Mediterranean Fever	Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis	OMIM:249100
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis	ORPHA:464343
Hyper-Igd Syndrome	Lymphadenitis, Skin rash, Serositis, Arthritis, Chronic oral candidiasis	OMIM:260920
Simple Cryoglobulinemia	Nephritis, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis, Viral hepatitis	ORPHA:91139
Glycogen Storage Disease Ia	Osteoporosis, Pancreatitis, Gout	OMIM:232200
Behçet Disease	Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis...	ORPHA:117
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Smith-Lemli-Opitz Syndrome	2-3 toe cutaneous syndactyly, Hip dislocation, Microretrognathia, Postaxial foot polydactyly, Sho...	OMIM:270400
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis	ORPHA:761
Juvenile Dermatomyositis	Limitation of joint mobility, Skin rash, Myositis, Arthritis, Pericarditis	ORPHA:93672
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Micromelia, Postaxial hand polydactyly	OMIM:200995
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Arthritis	ORPHA:420741
Oculocerebrorenal Syndrome Of Lowe	Abnormal epiphysis morphology, Periodontitis, Osteomalacia, Joint stiffness, Genu valgum, Recurre...	ORPHA:534
Neu-Laxova Syndrome	Osteopenia, Rickets, Micromelia, Osteomalacia, Micrognathia, Broad foot, Large hands, Osteoporosi...	ORPHA:2671
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Periodontitis, Joint dislocation, Joint hypermobility, Osteoarthritis...	ORPHA:286
Glycogen Storage Disease Ib	Osteoporosis, Inflammation of the large intestine, Pancreatitis, Gout	OMIM:232220
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Micromelia, Camptodactyly of finger, Avascular necrosis of the capital femoral...	ORPHA:3107
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Iridocyclitis, Clubbing, Arthritis, Bone cyst, Bronchiectasi...	OMIM:181000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczematoid dermatitis, Recurrent otitis media, Skin rash, Recurrent sinusitis, Hashimoto thyroidi...	OMIM:615688
Smith-Lemli-Opitz Syndrome	Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna...	ORPHA:818
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Micrognathia, Polydactyly, Short ribs, Joint hypermobility, Brachydacty...	OMIM:613610
Primary Sjögren Syndrome	Arteritis, Parotitis, Chronic active hepatitis, Polyarticular arthropathy, Lymphocytic interstiti...	ORPHA:289390
Encephalocraniocutaneous Lipomatosis	Osteolysis, Abnormal cartilage morphology	ORPHA:2396
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Inflammation of the large intestine, Periodontitis, Gout, Increased susceptibility to...	ORPHA:79259
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Failure to thrive, Micromelia, Oligodactyly, Jo...	ORPHA:199
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl...	ORPHA:48435
Charge Syndrome	Bifid femur, Short thumb, Micrognathia, Down-sloping shoulders, Hand polydactyly, Absent tibia, H...	OMIM:214800
Blau Syndrome	Posterior uveitis, Limitation of joint mobility, Keratitis, Polyarticular arthritis, Camptodactyl...	ORPHA:90340
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia	ORPHA:1675
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Tracheomalacia, Hypoplasia of proximal radius, Obesity, Micrognathia, Fibular hypopla...	ORPHA:444077
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Arthritis	OMIM:615846
C Syndrome	Toe syndactyly, Limitation of joint mobility, Micromelia, Failure to thrive in infancy, Micrognat...	ORPHA:1308
Hereditary Spherocytosis	Maculopapular exanthema, Gout	ORPHA:822
Dysbetalipoproteinemia	Acute pancreatitis, Gout	ORPHA:412
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Recurrent aphthous stomatitis, Gastritis, Glomerulonephritis, Arthritis, Colitis, Pann...	ORPHA:3261
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Abnormal thumb morpho...	ORPHA:2363
Sitosterolemia 1	Arthritis	OMIM:210250
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Joint hypermobility, Arachnodactyly, Hand polydactyly, Seborrhe...	ORPHA:567
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Abnormal pelvis bone ossification, Preaxial hand polydactyly, Absent or minimally oss...	ORPHA:93271
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Gout	OMIM:174000
Fabry Disease	Abnormal femur morphology, Reduced bone mineral density, Arthritis	ORPHA:324
Kawasaki Disease	Hepatitis, Skin rash, Cholecystitis, Arthritis, Myocarditis, Conjunctivitis, Cheilitis, Pericarditis	ORPHA:2331
Mucopolysaccharidosis Type 2, Severe Form	Limitation of joint mobility, Camptodactyly of finger, Arthritis, Hip dysplasia, Diaphyseal under...	ORPHA:217085
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun...	ORPHA:707
Mucopolysaccharidosis Type 2, Attenuated Form	Limitation of joint mobility, Camptodactyly of finger, Arthritis, Hip dysplasia, Diaphyseal under...	ORPHA:217093
Aspartylglucosaminuria	Joint stiffness, Abnormal cortical bone morphology, Abnormal morphology of ulna, Arthritis, Chron...	ORPHA:93
Systemic Lupus Erythematosus	Discoid lupus rash, Malar rash, Lupus nephritis, Arthritis, Cheilitis, Serositis	ORPHA:536
Aicardi-Goutières Syndrome	Chilblains, Multiple joint contractures, Myositis, Arthritis, Panniculitis	ORPHA:51
Autoinflammatory Disease, Systemic, With Vasculitis	Atopic dermatitis, Parotitis, Colitis, Arthritis, Conjunctivitis, Epididymitis	OMIM:620376
Glycogen Storage Disease Ic	Inflammation of the large intestine, Gout, Stomatitis, Chronic pancreatitis	OMIM:232240
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Joint hypermobility	ORPHA:93111
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Joint dislocation, Glue ear, Myositis, Small toe, Arthritis, Cl...	ORPHA:3310
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Micrognathia, Spina bifida occulta, Brachydact...	ORPHA:709
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Osteomyelitis, Abnormal hi...	ORPHA:642
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout	OMIM:300661
Marburg Hemorrhagic Fever	Uveitis, Skin rash, Orchitis, Pancreatitis, Arthritis, Maculopapular exanthema, Pericarditis	ORPHA:99826
Dermatomyositis	Chondrocalcinosis, Heliotrope rash, Skin rash, Myositis, Arthritis, Myocarditis, Pericarditis	ORPHA:221
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Pancreatitis, Myocarditis, Septic arthritis, Acute colitis	ORPHA:544482
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Osteopenia, Widely patent fontanelles and sutures, Camptodactyly of finger, Rec...	ORPHA:3455
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Recurrent fractures	ORPHA:2785
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Limb undergrowth, Cutaneous syndactyly	ORPHA:2052
Chronic Graft Versus Host Disease	Urinary bladder inflammation, Fasciitis, Keratoconjunctivitis sicca, Arthritis, Flexion contractu...	ORPHA:99921
Gaisböck Syndrome	Gout, Cholecystitis	ORPHA:90041
Gitelman Syndrome	Tubulointerstitial nephritis, Chondrocalcinosis, Gout, Hashimoto thyroiditis	ORPHA:358
Noonan Syndrome 1	Radial deviation of finger, Clinodactyly, Synovitis, Cubitus valgus, Brachydactyly	OMIM:163950
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
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 Matn3

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 Matn3.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Matn3^tm1Brd	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Matn3^tm1brd	PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Matn3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Matn3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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