Gene Summary

matrilin 3

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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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

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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.

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

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

Disease Similarity of
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Short r... ORPHA:2021
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
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
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