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Gene: Prkg2 MGI:108173

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

protein kinase, cGMP-dependent, type II

Synonyms:

cGK-II, Prkgr2

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Prkg2 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 Prkg2 (2 diseases)
Human diseases predicted to be associated with Prkg2 (607 diseases)

The table below shows human diseases associated to Prkg2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Acromesomelic Dysplasia 4		Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Spondylometaphyseal Dysplasia, Pagnamenta Type		Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short...	OMIM:619638

The table below shows human diseases predicted to be associated to Prkg2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou...	OMIM:601344
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Spondylometaphyseal Dysplasia, Corner Fracture Type	Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body...	OMIM:184255
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Ob...	OMIM:618395
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers...	OMIM:227270
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ...	OMIM:601370
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flar...	OMIM:602557
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ...	ORPHA:2831
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Contract...	OMIM:616716
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Odontoid Hypoplasia	Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o...	OMIM:613628
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit...	OMIM:609324
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Gurrieri Syndrome	Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Hypoplast...	OMIM:601187
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia	OMIM:277150
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Platyspondyly,...	OMIM:230600
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte...	ORPHA:1782
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia...	OMIM:108720
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral...	ORPHA:2635
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor...	ORPHA:40
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Epiphyseal stippling, A...	OMIM:222765
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi...	OMIM:602471
Opsismodysplasia	Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Squared iliac bones, Hypoplastic ...	ORPHA:2746
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Vertebral Hypoplasia With Lumbar Kyphosis	Lumbar kyphosis, Vertebral hypoplasia	OMIM:192900
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Richieri Costa-Da Silva Syndrome	Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility, Vertebral wedging,...	ORPHA:3101
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas...	OMIM:132400
Shox-Related Short Stature	Micrognathia, Short neck, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing, Fo...	ORPHA:314795
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e...	OMIM:164745
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H...	ORPHA:93315
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm...	ORPHA:94068
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Atelosteogenesis Type Iii	Micrognathia, Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne...	ORPHA:2557
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of ...	ORPHA:56304
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho...	ORPHA:93328
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver...	OMIM:212780
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm	ORPHA:168555
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ...	ORPHA:93351
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia	ORPHA:357175
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Small for gestational age, Neonatal epiphyseal stippling, Short ...	OMIM:101800
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma...	ORPHA:2916
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place...	ORPHA:628
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short...	ORPHA:2163
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal sacrum morphology, Coxa vara, Abnormal fibula morphology, Abn...	ORPHA:1988
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,...	OMIM:620076
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia	OMIM:615162
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat...	OMIM:620269
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb...	ORPHA:2633
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of...	OMIM:609616
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B...	OMIM:609052
Caudal Regression Syndrome	Bowel incontinence, Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypopl...	ORPHA:3027
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver...	OMIM:618641
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Wide anterior fontanel, Ulnar bowing, Shortening of all dis...	OMIM:619135
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum...	ORPHA:2741
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ...	OMIM:609325
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype...	ORPHA:1803
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,...	OMIM:616897
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Wide anterior f...	OMIM:201170
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Hypoplasia of the ...	OMIM:607143
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen...	ORPHA:2631
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr...	OMIM:239000
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Gastroesophageal reflux, Hypoplastic cervical vertebrae, Vertebral hypoplasia,...	ORPHA:79345
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi...	ORPHA:3104
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos...	ORPHA:958
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee disl...	OMIM:143095
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br...	OMIM:615222
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ...	OMIM:613848
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal...	OMIM:618392
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Mesomelia, Brachydactyly, Micrognathia	ORPHA:1277
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Lumbar hyperlordosis, Limited elbow extension, Bowing of the legs	ORPHA:156728
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Joint stiffness, Limitation of ...	ORPHA:1801
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Brachydactyly, Abnormal acetabulum morphology, Postaxial polydac...	ORPHA:397715
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met...	OMIM:618961
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Elbow dislocation, Crani...	ORPHA:93329
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o...	OMIM:184253
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga,...	ORPHA:356961
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa...	OMIM:608940
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Elbow dislocation, Metatarsus adductus, Campto...	ORPHA:2804
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered fi...	ORPHA:157965
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplasia of the odontoid proce...	OMIM:184252
Dysspondyloenchondromatosis	Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m...	ORPHA:85198
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Beaking of verte...	ORPHA:79255
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Patho...	ORPHA:83468
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi...	ORPHA:85172
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Kuskokwim Syndrome	Talipes, Joint stiffness, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral bodie...	ORPHA:1149
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b...	OMIM:151210
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Short neck, Elbow flexion...	OMIM:616809
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh...	OMIM:180870
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ...	OMIM:607323
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Joint stiffness, Short neck, Achilles ...	OMIM:252940
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle...	ORPHA:1952
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor...	OMIM:314390
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim...	ORPHA:2204
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A...	ORPHA:1837
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Gm1-Gangliosidosis, Type I	Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of verteb...	OMIM:230500
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ...	OMIM:184250
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi...	OMIM:200980
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos...	OMIM:309350
Acrocephalopolydactyly	Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Sc...	ORPHA:177
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Gastroesophageal re...	OMIM:134780
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee fl...	OMIM:601559
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb...	OMIM:617396
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing...	OMIM:600920
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the hand, Abnormal thumb m...	ORPHA:1842
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb	OMIM:179270
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow dislocation, Hypopl...	OMIM:264180
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Odontochondrodysplasia	Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ...	ORPHA:166272
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
Alagille Syndrome	Hypoplasia of the ulna, Failure to thrive, Micrognathia, Abnormal form of the vertebral bodies, V...	ORPHA:52
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent...	OMIM:616229
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Broad hallux, Broad thumb	OMIM:272200
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Pes planus, Kyphoscoliosis, Micrognathia, Coxa valga, Hyperlo...	OMIM:618363
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Large for gestational age, Osteoporosis, Ankle clonus, Lambdo...	OMIM:615398
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Abnorm...	OMIM:263750
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ...	ORPHA:2928
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ...	ORPHA:2909
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Micrognathia, Hypoplasia of the radius, B...	ORPHA:96097
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat...	OMIM:108721
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short...	OMIM:619638
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of...	ORPHA:239
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Micrognathia, ...	ORPHA:453510
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Gastroesophageal reflux, Postaxial polydactyly	OMIM:612913
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific...	OMIM:210710
Dysostosis Multiplex, Ain-Naz Type	Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular roof, Elongated femoral...	OMIM:619345
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph...	OMIM:612813
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor...	OMIM:255800
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Occipital Horn Syndrome	Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusio...	OMIM:304150
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join...	OMIM:313400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micr...	OMIM:616145
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,...	OMIM:618188
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Micromelia, Short neck, Wide distal femoral met...	OMIM:613320
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Upper limb as...	ORPHA:1597
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, Increased susceptibility to...	OMIM:241500
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas...	OMIM:218330
Panner Disease	Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar...	ORPHA:97336
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Micrognathia, Postaxial polydactyly, ...	OMIM:617866
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Hypoplasia of...	ORPHA:3404
Hall-Riggs Syndrome	Joint stiffness, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnor...	ORPHA:2107
Achondrogenesis Type 1A	Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Shor...	ORPHA:93299
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Abnormal cartilage collagen, ...	OMIM:156550
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, Large iliac wing, Abno...	ORPHA:198
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum, Joint hyperflexibility	ORPHA:1035
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint laxity, Scapular winging, Pes planus, Single transverse palmar crease, M...	OMIM:618870
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Joint stiffness, Short neck, Adduc...	ORPHA:1147
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Decreased skull ossification, Parti...	ORPHA:955
Achondrogenesis Type 1B	Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Short foot, Talipes equin...	ORPHA:93298
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Flexion con...	OMIM:300232
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly	OMIM:619479
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Lower limb asymmet...	ORPHA:35173
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c...	OMIM:307800
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Short neck, Fle...	ORPHA:1865
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Flexion contracture, Polydactyly, Vomiting, Gastroesophageal reflux, ...	ORPHA:17
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar em...	OMIM:613390
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deform...	OMIM:253000
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Hypertrichosis Cubiti	Joint hyperflexibility, Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P...	OMIM:211750
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o...	ORPHA:3121
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Large for gestational age, Short neck, Flexion con...	ORPHA:96334
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Shor...	OMIM:224400
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Achondrogenesis	Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Abnormality of bone miner...	ORPHA:932
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis	OMIM:615066
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B...	OMIM:166250
Microphthalmia With Limb Anomalies	Failure to thrive, Toe syndactyly, Sandal gap, Single transverse palmar crease, Sacral dimple, Ca...	OMIM:206920
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlord...	ORPHA:2839
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy...	OMIM:617925
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality...	ORPHA:3035
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Seckel Syndrome 1	11 pairs of ribs, Ivory epiphyses, Pes planus, Sandal gap, Abnormal finger flexion crease, Single...	OMIM:210600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty...	OMIM:276820
Diamond-Blackfan Anemia 1	11 pairs of ribs, Failure to thrive, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, P...	OMIM:105650
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Osteopenia, Short femur, Camptodactyly of finger, Irregular sclerotic en...	ORPHA:3455
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Abnormality of the lower limb, Hy...	ORPHA:245
Achondrogenesis, Type Ib	Hypoplastic ilia, Absent or minimally ossified vertebral bodies, Short ribs, Micromelia	OMIM:600972
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial...	ORPHA:3138
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, ...	OMIM:616507
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener...	OMIM:259420
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly	ORPHA:508542
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Infantile Systemic Hyalinosis	Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne...	ORPHA:2176
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Dysphagia, Tapered finger	OMIM:618367
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn...	ORPHA:392
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis, Dysphagia, Achalasia	ORPHA:79107
Tibial Hemimelia	Absent tibia	OMIM:275220
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deform...	OMIM:253010
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili...	ORPHA:2655
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scol...	ORPHA:64755
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:241530
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm	ORPHA:238750
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol...	ORPHA:3041
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Pes planus, Abnormal morphology of uln...	ORPHA:84
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Joint hypermobility, Genu valgum	OMIM:617798
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t...	OMIM:271665
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Pycnodysostosis	Micrognathia, Generalized osteosclerosis, Hypoplastic iliac wing, Joint laxity, Increased bone mi...	ORPHA:763
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Brachydactyly	ORPHA:2145
Fanconi Anemia, Complementation Group I	Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Decrea...	OMIM:609053
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar...	ORPHA:508533
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia	ORPHA:2772
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Small for gestationa...	OMIM:614813
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor...	ORPHA:508488
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Radio-Renal Syndrome	Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality of the elbow, Abnorma...	ORPHA:3015
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:264700
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm...	ORPHA:93274
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb	OMIM:617784
Pallister-Hall-Like Syndrome	Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ...	OMIM:241800
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:277440
White-Sutton Syndrome	Joint laxity, Micrognathia, Short neck, Obesity, Hypoplastic cervical vertebrae, Gastroesophageal...	OMIM:616364
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Obesity, Hip dysplasia, Limb undergrowth, Lumbar ...	ORPHA:319675
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co...	OMIM:616007
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse ...	OMIM:305400
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Small for gestational age, Long foot, Micrognathia, Hypopla...	OMIM:264090
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Single transverse palmar crease, Talipes, Flexion contracture, Gastroe...	ORPHA:79243
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Micromelia, Short neck, Hyperlordosis, ...	ORPHA:1798
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ...	ORPHA:50945
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal femu...	ORPHA:3130
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co...	OMIM:268300
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Micrognathia, Short neck, Talipes equinovarus, Broad distal pha...	OMIM:300990
Gm1 Gangliosidosis	Camptodactyly of finger, Joint stiffness, Hyperlordosis, Kyphosis, Abnormal form of the vertebral...	ORPHA:354
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Micrognathia, Long fingers, Hypoplastic coccygeal vertebrae, Bilatera...	OMIM:619512
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, 2-3 toe syndactyly, Knee flexion con...	OMIM:618162
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Me...	OMIM:250250
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Hypopla...	OMIM:311900
Alagille Syndrome 1	Hypoplasia of the ulna, Hemivertebrae, Failure to thrive, Short distal phalanx of finger, Butterf...	OMIM:118450
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia	OMIM:206900
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Dpm1-Cdg	Sandal gap, Micrognathia, Diarrhea, Knee flexion contracture, Camptodactyly, Limb undergrowth, Fa...	ORPHA:79322
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints	OMIM:182940
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab...	ORPHA:2021
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge...	ORPHA:1784
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly	OMIM:600092
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Kyphoscoliosis, Hip dislocation, Limb undergrowth, Joint contracture, Failure to thrive	OMIM:618005
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Bifid femur, I...	ORPHA:2769
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Anisosp...	OMIM:224410
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Short neck, Failure to ...	ORPHA:50810
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Bowel incontinence, Wide anterior fontanel, Kyphosis, Tibial bo...	OMIM:616482
Fanconi Anemia, Complementation Group P	Short thumb, Hypoplasia of the radius, Absent thumb, Micrognathia	OMIM:613951
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromeli...	OMIM:610682
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Micromelia, Recurre...	ORPHA:3206
Schisis Association	Small for gestational age, Micromelia	ORPHA:63862
Iniencephaly	Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a...	ORPHA:63259
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the...	ORPHA:289176
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Limb undergrowth, Shor...	OMIM:225410
Kagami-Ogata Syndrome	Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Flexion contracture, Limb undergrowth	OMIM:608149
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bo...	ORPHA:488434
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Failure to thrive, Tarsal synostosis, S...	ORPHA:90652
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Coxa vara, Wrist flexion contracture, Increased bone minera...	ORPHA:800
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o...	OMIM:252500
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne...	ORPHA:233
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Hypoplasia of...	OMIM:253220
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Kyphoscoliosis, Micrognathia, Partial duplication of thumb phalanx,...	OMIM:616331
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Kinsship Syndrome	Osteopenia, Pes planus, Sacral dimple, Single transverse palmar crease, Micrognathia, Coxa valga,...	OMIM:619297
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr...	ORPHA:666
Fanconi Anemia, Complementation Group F	Sacral dimple, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Failur...	OMIM:603467
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Arthritis, Platyspondyly, ...	ORPHA:1855
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly	ORPHA:1318
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Glutamine Deficiency, Congenital	Flexion contracture, Micromelia, Camptodactyly	OMIM:610015
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Prominent fingertip pads, Clinodactyly, Broad ...	OMIM:618529
3P25.3 Microdeletion Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Microg...	ORPHA:435638
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Mosaic Trisomy 16	Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Short femora...	ORPHA:1708
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm...	ORPHA:2636
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Narrow pelvis bone, Joint hyperflexibility, Truncal obesity, Abnormal epip...	ORPHA:2637
Charge Syndrome	Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab...	OMIM:214800
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ...	OMIM:607014
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognathia, Mesomelia	ORPHA:1908
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Hemivertebrae, Ab...	ORPHA:3412
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Broad palm, Short foot, Short lo...	OMIM:269860
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, Short nec...	OMIM:122470
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In...	OMIM:259770
Slc39A8-Cdg	Osteopenia, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contracture, Knee flexi...	ORPHA:468699
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial p...	ORPHA:2886
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia	ORPHA:3169
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffne...	OMIM:253200
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Br...	OMIM:614800
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna...	OMIM:263650
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Micrognathia, Elbow dislocation, Camptodactyly of finger, Short n...	ORPHA:99776
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Thor...	OMIM:300373
Desmosterolosis	Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Osteopetr...	ORPHA:35107
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Short neck, Osteoporosis, 2-3 toe syndactyly, Broad finger, Scoliosi...	ORPHA:488632
Hydrolethalus	Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna...	OMIM:192350
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Flexion contracture, Talipes equinovarus, Scoliosis, Limb undergrowth	OMIM:619124
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Micrognathia, Short neck, Kyphosis, Scoliosis, Mesomelia, Clinodactyly...	OMIM:616894
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara...	OMIM:602535
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve...	ORPHA:87
Autosomal Recessive Robinow Syndrome	Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bilatera...	ORPHA:1507
Currarino Syndrome	Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum, Lower limb asymmetry	ORPHA:1552
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Sacral dimple, Failure to thrive in infancy, Short prox...	ORPHA:261323
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Kyphoscoliosis, M...	ORPHA:97360
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Genu valgum, Abnormal pelvic girdle bone morphology, Hand pol...	ORPHA:289
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Truncal obesity, Clinodactyly, Pes cavus	OMIM:616541
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radius, Gastroesoph...	ORPHA:444077
Raine Syndrome	Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognathia, Short neck, S...	OMIM:259775
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Sacral dimple, Camptodactyly of finger, Micromelia, Micrognathia, Elbow disloc...	ORPHA:3107
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Small for gestational age, Coxa valga, Achill...	ORPHA:404454
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Sacral dimple, Micr...	OMIM:180700
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Small for gestational age, Chronic diarrhea, Broad palm, Limb undergrowth, Failu...	ORPHA:99843
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Micrognathia, Absent...	ORPHA:2363
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Small for gestational...	ORPHA:464306
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius	ORPHA:140952
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Postaxial hand polydactyly, Micromelia, Short neck	OMIM:200995
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, ...	OMIM:164210
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Gastroesophageal reflux, Mesomelia, Failure to thrive, Hip subluxation	OMIM:613457
C Syndrome	Sacral dimple, Toe syndactyly, Failure to thrive in infancy, Talipes, Micromelia, Micrognathia, S...	ORPHA:1308
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Short neck, Kyphosis, P...	ORPHA:818
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Short ribs	OMIM:616546
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Short neck, Gastroesophageal reflux, Clino...	ORPHA:199
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Short neck, Long...	OMIM:256520
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Short neck, Postaxial hand ...	OMIM:613610
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial...	ORPHA:93271
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Deep palmar crease, Micromelia, Short neck	ORPHA:1675
Peters Plus Syndrome	Sacral dimple, Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short neck, Short toe, Short...	ORPHA:709

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 Prkg2

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 Prkg2.

No publications found that use IMPC mice or data for Prkg2.

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
Prkg2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Prkg2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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