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Gene: Cdx1 MGI:88360

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
caudal type homeobox 1
Synonyms:
Cdx,  Cdx-1

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 Cdx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae OMIM:608681
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Chondrocalcinosis Due To Apatite Crystal Deposition
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... OMIM:118610
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... OMIM:122600
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Scheuermann Disease
Osteochondrosis, Morbus Scheuermann, Kyphosis OMIM:181440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... ORPHA:2064
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... ORPHA:1797
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Radioulnar synostosis, Delayed skeletal maturation, Scoliosis, Abnormal... ORPHA:3268
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Abnor... ORPHA:66637
Poland Syndrome
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs OMIM:173800
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Sprengel Deformity
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... OMIM:184400
Brachyolmia, Maroteaux Type
Short thorax, Pectus excavatum, Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae OMIM:616566
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Rib fusion, Scoliosis, Pect... ORPHA:64755
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Increased vertebral height, Platyspondyly ORPHA:93304
Heart Defects-Limb Shortening Syndrome
Kyphosis, Accelerated skeletal maturation, Narrow chest, Abnormal rib morphology, Abnormal form o... ORPHA:1354
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil... ORPHA:1801
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Limitation of joint mobility, Platyspondyly ORPHA:168555
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal rib morphology, Sclerotic vertebral bo... ORPHA:2790
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec... OMIM:613686
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... ORPHA:2345
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Sclerotic vertebral body, Abnormal form of t... ORPHA:2777
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Hip osteoarthritis, Heberden's node, Platyspondyly, Beaking of ver... OMIM:604864
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Osteogenesis Imperfecta, Type Ix
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Pectus excavatum, Multi... OMIM:259440
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Abnormal vertebral morphology, Platyspo... ORPHA:163665
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Joint hyperflexibi... ORPHA:40
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Short ribs OMIM:187750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion, Short thorax OMIM:618845
Becker Nevus Syndrome
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs OMIM:604919
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Decreased... OMIM:609223
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... OMIM:618469
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion OMIM:214300
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Kyphosis, Vertebral segmentation defect, Rib segmentation ... ORPHA:2311
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology ORPHA:1436
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Vertebral segmentation defect, Synostosis of carpal bones, Tarsal synost... ORPHA:1836
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... OMIM:615220
Femoral-Facial Syndrome
Vertebral segmentation defect, Radioulnar synostosis, Abnormal sacrum morphology, Sprengel anomal... ORPHA:1988
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Short ribs, Irregular chondro... OMIM:187760
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Long thorax, A... ORPHA:2635
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Short neck,... OMIM:271520
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Kuskokwim Syndrome
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Joint stiffness, ... ORPHA:1149
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge OMIM:309620
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis OMIM:184300
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Abnormal thorax morphology, Synostosis of carpal bones, Spina bifida occu... OMIM:102510
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck ORPHA:2578
Spondylometaphyseal Dysplasia, Type A4
Enlargement of the costochondral junction, Osteoporotic tarsals, Flat acetabular roof, Ovoid vert... OMIM:609052
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... OMIM:118100
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Craniosynostosis, Multiple pterygia,... OMIM:178110
Myotonia With Skeletal Abnormalities And Mental Retardation
Bell-shaped thorax, Genu valgum, Vertebral wedging, Kyphoscoliosis, Pectus carinatum OMIM:255710
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Short neck, Abnormal clavicl... ORPHA:2522
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, Scoliosis, Spren... ORPHA:1394
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... ORPHA:2234
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Patellar dislocation, Multiple joint dislocation, Narrow vertebral... OMIM:618395
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Biconcave vertebral bodies, Increased susceptibility to fractures, Joint lax... OMIM:613982
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Capitate-hamate fusio... OMIM:271650
Bruck Syndrome 1
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... OMIM:259450
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Lateral clavicle hook, Acetabular spurs, Narrow chest, Trident aceta... OMIM:617405
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Knee pain, Avascular necrosis of the capital femoral epiphysis, Ar... OMIM:184100
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Thoracic scoliosis, Short neck, Shield chest, Pectus excavatum OMIM:616994
Metatropic Dysplasia
Flexion contracture, Long coccyx, Delayed skeletal maturation, Enlarged joints, Arthrogryposis mu... OMIM:156530
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Thoracic hypoplasia, Scoliosis, Platyspondyly, Narrow chest OMIM:602271
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Pectus carinatum, Lumb... ORPHA:313892
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Abnormal carpal morphology, Synostosis of carpal bones, Limitation of joint mobility... ORPHA:93351
Pontine Tegmental Cap Dysplasia
Hemivertebrae, Ankle clonus, Rib fusion, Scoliosis OMIM:614688
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Recurrent fractures, Limitation of joint mobility, Short neck, Abnormal... ORPHA:1486
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Jo... OMIM:113000
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Spinal Dysplasia, Anhalt Type
Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Spinal dysplasia, Thor... OMIM:601344
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Isolated Hemihyperplasia
Scoliosis, Asymmetry of the thorax ORPHA:2128
White Forelock With Malformations
Spina bifida occulta, Delayed skeletal maturation, Joint hyperflexibility, Sprengel anomaly, Abno... ORPHA:2475
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal maturation, Scol... ORPHA:2332
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Verheij Syndrome
Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae OMIM:615583
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Fibrochondrogenesis 2
Bell-shaped thorax, Thoracic hypoplasia, Short ribs, Cupped ribs, Platyspondyly OMIM:614524
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Flat acetabular roof, Delayed ossification of carpal bones, Cupped... OMIM:609616
Thanatophoric Dysplasia, Type Ii
Short ribs, Wide-cupped costochondral junctions, Platyspondyly, Narrow chest, Small abnormally fo... OMIM:187601
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Decreased skull ossification, Platyspondy... ORPHA:93267
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Kniest Dysplasia
Bell-shaped thorax, Short thorax, Delayed epiphyseal ossification, Arthropathy, Anterior vertebra... ORPHA:485
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Camptodactyly, Kyphoscoliosis, Short neck, Po... OMIM:611209
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:3109
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Abnormal sternum morphology, Vertebral segmentation defect, Multiple pte... ORPHA:2990
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Scoliosis, Short ribs OMIM:618155
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormality of the wrist, Abnormal vertebral morphology, Radioulnar syn... ORPHA:2319
Mucolipidosis Iii Gamma
Hyperlordosis, Genu valgum, Kyphosis, Abnormal rib cage morphology, Short neck, Scoliosis, Joint ... OMIM:252605
Axial Spondylometaphyseal Dysplasia
Flared, irregular rib ends, Thoracic hypoplasia, Short ribs, Posterior wedging of vertebral bodie... ORPHA:168549
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Joint hypermobility, Hypoplastic distal segments of scapulae, Pectus exc... OMIM:602196
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... ORPHA:93315
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Elbow flexion contracture, Flat acetabular roof, Delayed ossi... OMIM:184252
Microphthalmia, Syndromic 3
Vertebral fusion, Vertebral hypoplasia, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Ri... OMIM:206900
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Craniosynostosis, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Scoliosis, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebr... ORPHA:2180
Osteogenesis Imperfecta, Type Xxi
Bell-shaped thorax, Recurrent fractures, Pectus excavatum, Barrel-shaped chest, Joint hypermobili... OMIM:619131
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest, Short neck, Camptodactyly of finger ORPHA:1703
Diastrophic Dysplasia
Camptodactyly of finger, Joint dislocation, Kyphosis, Increased bone mineral density, Elbow dislo... ORPHA:628
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobility, Generalized o... OMIM:617952
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp... OMIM:313400
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Joint hyperflexibility, Abnormal rib morphology, Hemivertebrae, Abnormal form of th... ORPHA:2759
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... ORPHA:2916
Mucopolysaccharidosis Type 4
Hyperlordosis, Genu valgum, Short thorax, Joint dislocation, Kyphosis, Spinal canal stenosis, Sho... ORPHA:582
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Genu valgum, Anterior rib cupping, Hypoplasia of the odontoid process, Scoliosis, ... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Flat acetabular roof, Pectus excavatum, Posterior rib cupping, Ovoid vertebr... OMIM:608728
Osteogenesis Imperfecta, Type Ii
Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Multiple prenatal fractures, Platys... OMIM:166210
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Vertebral compression fracture, Osteoporosis, Bone pain ORPHA:85193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis OMIM:606612
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur... OMIM:259420
Kbg Syndrome
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Rib fusio... OMIM:148050
Mucopolysaccharidosis, Type X
Hyperlordosis, Genu valgum, Broad clavicles, Spatulate ribs, Scoliosis, Irregular acetabular roof... OMIM:619698
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Multiple rib fractures, Joint hypermobility, Osteopenia, Decreased calvarial... OMIM:616229
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Pear-shaped vertebrae, Del... OMIM:602111
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Short neck, Abnormal rib morphology ORPHA:93298
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Osteopenia, Joint swelling, Flaring of rib c... OMIM:612852
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sacral dimple, Bifid ribs, Vertebral fusion, Hyperextensibility of the finger joints, Narrow ches... OMIM:213980
Holt-Oram Syndrome
Kyphosis, Radioulnar synostosis, Down-sloping shoulders, Pectus excavatum, Sprengel anomaly, Abno... ORPHA:392
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Severe platyspondyly, Cupped ribs, Ovoid vertebral bodies, Scoliosis, Platyspondyly, Joint stiffness OMIM:608940
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Grant Syndrome
Joint dislocation, Narrow chest, Abnormality of the glenoid fossa, Sprengel anomaly, Decreased sk... ORPHA:2097
Gorlin Syndrome
Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging ORPHA:377
Aicardi Syndrome
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... ORPHA:50
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Hyperlordosis, Genu valgum, Large elbow, Kyphosis, Prominen... OMIM:253000
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Wormian bones, Scoliosis, Joint hyperflexibility, Abnormal rib mor... ORPHA:2050
Cog1-Cdg
Vertebral segmentation defect, Flat acetabular roof, Butterfly vertebrae, Kyphoscoliosis, Short n... ORPHA:263508
Schneckenbecken Dysplasia
Thoracic hypoplasia, Anterior rib cupping, Advanced ossification of carpal bones, Short ribs, Nar... OMIM:269250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Alkaptonuria
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... OMIM:203500
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Short ribs, Elbow flexion contracture, Kyphoscoliosis,... ORPHA:1145
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Short ribs, Narrow chest, Short neck, Ab... ORPHA:2021
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... ORPHA:90650
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... OMIM:171480
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Thin ribs, Decreased skull ossification, Platyspondyly OMIM:300863
Phaver Syndrome
Camptodactyly of finger, Pterygium, Butterfly vertebrae, Radioulnar synostosis, Abnormal rib morp... ORPHA:2876
Short Stature And Facioauriculothoracic Malformations
Cervical ribs, Pectus excavatum, Short neck, Abnormality of the odontoid process, Pectus carinatum OMIM:609654
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Pectus excavatum, Abnormal vertebral ... ORPHA:915
Caudal Regression Syndrome
Missing ribs, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... ORPHA:3027
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Coat hanger sign of ribs, Wrist flexion contracture, Partial fusion of t... OMIM:305620
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Cervical C2/C3 ve... OMIM:616549
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Scoliosis, Joint hyperflexibility, Abnormal rib morphology... ORPHA:1488
Aicardi Syndrome
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... OMIM:304050
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert... OMIM:272460
Pseudoachondroplasia
Genu varum, Genu valgum, Delayed epiphyseal ossification, Kyphosis, Ulnar deviation of the wrist,... OMIM:177170
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Scoliosis, Joint stiffness OMIM:252900
Achondrogenesis Type 1A
Short thorax, Recurrent fractures, Abnormal enchondral ossification, Multiple rib fractures, Shor... ORPHA:93299
Lamb-Shaffer Syndrome
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis ORPHA:530983
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Thoracic dysplasia, Lateral clavicle hook, Narrow chest OMIM:615633
Femoral-Facial Syndrome
Hypoplastic acetabulae, Limited elbow movement, Humeroradial synostosis, Missing ribs, Radioulnar... OMIM:134780
Basal Cell Nevus Syndrome 1
Bifid ribs, Vertebral fusion, Abnormal sternum morphology, Short ribs, Vertebral wedging, Supernu... OMIM:109400
Robinow Syndrome, Autosomal Recessive 1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Pr... OMIM:268310
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bell-shaped thorax, Genu varum, Delayed epiphyseal ossification, Vertebral hypoplasia, Short ribs... OMIM:602557
Melnick-Needles Syndrome
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Short thorax, Na... ORPHA:2484
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... ORPHA:1724
3M Syndrome
Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Increased vertebral height, Abnorm... ORPHA:2616
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness OMIM:252920
Dyggve-Melchior-Clausen Disease
Genu valgum, Short thorax, Horizontal inferior border of scapula, Broad ribs, Hypoplastic acetabu... ORPHA:239
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Decreased cranial base ossification, Flat ... OMIM:151210
Larsen Syndrome
Vertebral fusion, Spondylolysis, Accessory carpal bones, Cervical kyphosis, Hip dislocation, Join... OMIM:150250
Cole-Carpenter Syndrome 2
Recurrent fractures, Kyphosis, Coronal craniosynostosis, Pectus excavatum, Wide cranial sutures, ... OMIM:616294
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Hip dislocation, Joint hyp... OMIM:618000
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Lumbar hyperlordosis,... OMIM:223800
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Kyphoscoliosis, Beaking of vertebr... OMIM:252930
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Irregular vertebral endplates, Anterior rib cupping, Abnormal... ORPHA:174
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossification in... OMIM:135100
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae ORPHA:3035
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Narrow chest, Abnormal clavicle morphology, Abnormal r... ORPHA:474
Achondrogenesis, Type Ia
Hypoplastic sacrum, Bell-shaped thorax, Short thorax, Short ribs, Broad clavicles, Narrow chest, ... OMIM:200600
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Kyphosis, Joint laxity, Barrel-shaped chest, Multiple prenatal fractures, Sc... OMIM:610915
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Butterfly vertebrae, Pectus excavatum, Spina bifida occulta, Sprengel a... OMIM:619227
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Short neck, Ovoid vertebral bodies, Joint stiffness, Broad ribs ORPHA:583
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Diaphyseal sclerosis, Thickened ribs, Cortical sclerosis OMIM:122860
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Sprengel anomaly, Cervical ribs OMIM:601389
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Kyphosis, Vertebral segmentation defect, Synostosis of ca... ORPHA:1507
Holzgreve Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae, Joint stiffness ORPHA:2167
Wolf-Hirschhorn Syndrome
Sacral dimple, Kyphosis, Abnormal thorax morphology, Abnormal vertebral morphology, Rib segmentat... ORPHA:280
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Joint hypermobility, Pectus excavatum, Six lumbar vertebrae, Scapular winging OMIM:619122
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Limitation of joint mobility, Delayed skeletal maturation, Abnormal rib morphology... ORPHA:3068
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... ORPHA:2970
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Pectus excavatum, Joint hypermobility, Sh... OMIM:130720
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Generalized bone demineralization, Genu varum, Thoracic hypoplasia, Squared-off pl... ORPHA:93352
Osteogenesis Imperfecta, Type X
Genu valgum, Thoracic hypoplasia, Generalized joint laxity, Multiple rib fractures, Joint laxity,... OMIM:613848
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... OMIM:157800
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Cervical ribs, Scoli... ORPHA:3320
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Short neck, Pectus carinatum, Kyphosis ORPHA:3082
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Asymmetry of t... OMIM:604922
Dysosteosclerosis
Short sternum, Increased susceptibility to fractures, Delayed closure of the anterior fontanelle,... OMIM:224300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Vertebral segmentation defect, Missing ribs, Short neck, Scoliosis, Abno... ORPHA:1834
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling of toe phalanges, Vertebral hypoplasia, Stippling of the epiphyses of the di... ORPHA:79345
Acrocapitofemoral Dysplasia
Genu varum, Short ribs, Delayed ossification of carpal bones, Pectus excavatum, Cupped ribs, Ovoi... OMIM:607778
Mucolipidosis Iii Alpha/Beta
Short ribs, Craniosynostosis, Irregular carpal bones, Carpal bone hypoplasia, Scoliosis, Shallow ... OMIM:252600
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Pectus excavatum, Sco... ORPHA:96169
Three M Syndrome 2
Hyperlordosis, Short thorax, Short neck, Delayed skeletal maturation, Scapular winging, Thin ribs... OMIM:612921
Cenani-Lenz Syndrome
Synostosis of carpal bones, Hip dislocation, Radioulnar synostosis, Synostosis of joints, Elbow d... ORPHA:3258
Fibrochondrogenesis 1
Thoracic hypoplasia, Thin clavicles, Anterior rib cupping, Short ribs, Joint contracture of the h... OMIM:228520
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short ribs, Hypoplastic vertebral bodies, Short neck, Platyspondyly, Narrow... ORPHA:2347
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Anterior rib cupping, Prominent sternum, Thoracic kyphosis, Hypoplasia of th... OMIM:300232
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Genu valgum, Kyphosis, Prominent sternum, Ulnar deviation of the wrist, Hypoplasia... OMIM:253010
Achondrogenesis, Type Ii
Horizontal ribs, Absent vertebral body mineralization, Barrel-shaped chest, Short ribs OMIM:200610
Acro-Renal-Mandibular Syndrome
Kyphosis, Butterfly vertebrae, Hip dislocation, Short neck, Abnormal clavicle morphology, Scolios... ORPHA:958
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Vertebral arch anomaly, Increased bone mineral density, Osteopenia, Broad ribs, Wormian bones ORPHA:85184
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Thoracic hypoplasia, Fractured radius, Short ribs, Multiple rib fractures, M... OMIM:616897
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Delayed skeletal maturation ORPHA:2643
Pallister-Hall Syndrome
Hemivertebrae, Rib fusion, Hip dislocation, Radial head subluxation OMIM:146510
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Hypoplastic vertebral bodies, Short neck, Scoliosis, Beaking of vertebr... OMIM:230500
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Missing ... ORPHA:2769
Robinow Syndrome
Radioulnar dislocation, Missing ribs, Kyphoscoliosis, Rib fusion, Scoliosis, Hemivertebrae, Fused... ORPHA:97360
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Anterior rib cupping, Carpal bone hypoplasia, Kyphoscoliosis, Platyspondyly, Lumbar ... OMIM:184253
Atelosteogenesis, Type I
11 pairs of ribs, Bell-shaped thorax, Thoracic hypoplasia, Vertebral hypoplasia, Fused cervical v... OMIM:108720
Hypophosphatasia
Narrow chest, Craniosynostosis, Abnormal rib morphology, Recurrent fractures ORPHA:436
Thanatophoric Dysplasia, Type I
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Wide-cupped costochondral junctions, Short... OMIM:187600
Bent Bone Dysplasia Syndrome 2
Short sternum, Hypoplastic acetabulae, Short ribs, Butterfly vertebrae, Short neck, Osteopenia, D... OMIM:620076
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Chromosome 8Q22.1 Duplication Syndrome
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... OMIM:151200
Zttk Syndrome
Flexion contracture, Kyphosis, Cervical ribs, Joint hypermobility, Rib fusion, Scoliosis, Hemiver... OMIM:617140
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu varum, Genu valgum, Irregular chondrocostal junctions, Short ribs, Joint laxity, Carpal bone... OMIM:250420
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly ORPHA:163966
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Narrow chest, Increased bone mineral density, Synostosis of carpal bones... ORPHA:90652
Cantú Syndrome
Cuboid-shaped vertebral bodies, Accelerated skeletal maturation, Short neck, Ovoid vertebral bodi... ORPHA:1517
Mosaic Trisomy 8
Camptodactyly of finger, Patellar aplasia, Narrow chest, Vertebral segmentation defect, Limitatio... ORPHA:96061
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Accelerated skeletal maturation, Delayed skeletal maturation, Platyspondyly, Abnorm... ORPHA:93317
Campomelia, Cumming Type
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae ORPHA:1318
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Camptodactyly, Down-sloping shoulders, Abnormal rib cage morphology, Pectus exc... OMIM:227330
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Broad ribs, Scoliosis, Osteopenia, Cubitus valgus, Sclerosis of skull ba... OMIM:269300
Otosclerosis 8
Otosclerosis OMIM:612096
Otosclerosis 3
Otosclerosis OMIM:608244
Wolf-Hirschhorn Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Radioulnar synostosis, Rib segmentati... OMIM:194190
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Hyperlordosis, Horizontal ribs, Genu valgum, Thoracic hypoplasia, Knee f... OMIM:618019
Baller-Gerold Syndrome
Sagittal craniosynostosis, Patellar hypoplasia, Limited elbow movement, Patellar aplasia, Cranios... OMIM:218600
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Scapular winging, Pectus carinatum, Cervical C2/C3 vertebral fusion, Lumbar hyp... OMIM:617796
Pyknoachondrogenesis
Horizontal ribs, Unossified sacrum, Short thorax, Enlarged thorax, Short ribs, Poorly ossified ve... ORPHA:3003
Cleidocranial Dysplasia
Genu valgum, Recurrent fractures, Narrow chest, Down-sloping shoulders, Abnormal sacrum morpholog... ORPHA:1452
Radio-Renal Syndrome
Abnormal rib morphology, Short neck, Abnormality of the elbow, Abnormal form of the vertebral bodies ORPHA:3015
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Abnormal bone ossification, Abnormal thorax morphology, Narrow... ORPHA:73230
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Protrusio acetabuli, Recurrent fractures, Multiple rib fractures,... OMIM:610682
Alagille Syndrome
Butterfly vertebral arch, Vertebral segmentation defect, Spina bifida occulta, Delayed skeletal m... ORPHA:52
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Koolen-De Vries Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Pectus excavatum, Joint hypermobility... OMIM:610443
X-Linked Hypophosphatemia
Genu varum, Genu valgum, Enlargement of the costochondral junction, Vertebral hyperostosis, Enthe... ORPHA:89936
Renpenning Syndrome
Abnormal rib morphology, Sprengel anomaly, Joint stiffness, Pectus excavatum ORPHA:3242
Poland Syndrome
Abnormal sternum morphology, Kyphosis, Short ribs, Finger symphalangism, Vertebral segmentation d... ORPHA:2911
Kyphomelic Dysplasia
Anterior rib cupping, Thoracic hypoplasia, Flat acetabular roof, Pterygium, Limitation of joint m... OMIM:211350
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Epiphyseal stippling, Hypopla... OMIM:215140
Cartilage-Hair Hypoplasia
Prominent sternum, Narrow vertebral interpedicular distance, Hypoplasia of the odontoid process, ... OMIM:250250
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae, Missing ribs ORPHA:3301
Antley-Bixler Syndrome
Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Narrow chest, Elbow... ORPHA:83
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Fused cervical vertebrae, Flat acetabular roof, Wormian bones OMIM:617159
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... ORPHA:1826
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Joint stiffness, Popliteal pterygium, Scoliosis ORPHA:1300
Autosomal Recessive Kenny-Caffey Syndrome
Delayed cranial suture closure, Thin clavicles, Calvarial osteosclerosis, Delayed skeletal matura... ORPHA:93324
Otosclerosis 10
Otosclerosis OMIM:615589
1P36 Deletion Syndrome
11 pairs of ribs, Bifid ribs, Delayed cranial suture closure, Camptodactyly of finger, Kyphosis, ... ORPHA:1606
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Thin clavicles, Calvarial osteosclerosis, Delayed ske... OMIM:244460
Occipital Horn Syndrome
Genu valgum, Limited elbow extension, Broad ribs, Kyphosis, Capitate-hamate fusion, Broad clavicl... OMIM:304150
Trisomy 13
Abnormal rib morphology, Narrow chest, Scoliosis, Kyphosis ORPHA:3378
Cartilage-Hair Hypoplasia
Sacral dimple, Hyperlordosis, Biconvex vertebral bodies, Short thorax, Abnormal bone ossification... ORPHA:175
Hurler Syndrome
Camptodactyly of finger, Abnormality of the elbow, Spinal canal stenosis, Abnormal vertebral morp... ORPHA:93473
Kagami-Ogata Syndrome
Bell-shaped thorax, Flexion contracture, Kyphoscoliosis, Long clavicles, Thin ribs OMIM:608149
Meier-Gorlin Syndrome 1
Flexion contracture, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Absent sternal ... OMIM:224690
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Decreased calvarial ossification, Arthrogryposis multiplex congenita, Thin ribs OMIM:618265
Opsismodysplasia
Bell-shaped thorax, Anterior rib cupping, Severe platyspondyly, Hypoplasia of the odontoid proces... OMIM:258480
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sagittal craniosynostosis, Metopic synostosis, Cervical ribs, Joint hypermobility, Kyphoscoliosis... ORPHA:500150
Acromesomelic Dysplasia 4
Genu varum, Genu valgum, Enlargement of the costochondral junction, Thoracic scoliosis, Prominent... OMIM:619636
Otosclerosis 1
Otosclerosis OMIM:166800
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Scoliosis, Osteoporosis OMIM:617190
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Short neck, Delayed skeletal maturation, Osteopenia, Abnormal rib morphology ORPHA:488434
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu valgum, Joint contracture of the hand, Craniosynostosis, Supernumerary ribs, Camptodactyly, ... OMIM:182212
Myhre Syndrome
Vertebral fusion, Camptodactyly, Limitation of joint mobility, Enlarged vertebral pedicles, Short... OMIM:139210
Osteogenesis Imperfecta
Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Abnormal rib ... ORPHA:666
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Short ribs, Lateral clavicle hook, Narrow chest OMIM:617895
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Anterior rib cupping, Enlargement of the costochondr... OMIM:260400
Vacterl/Vater Association
Abnormal rib morphology, Vertebral segmentation defect, Abnormal intervertebral disk morphology, ... ORPHA:887
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Hip dislocation, Dis... OMIM:271640
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal bone ossification, Pectus excavatum, Joint hypermobility, Delayed skeletal maturation, O... ORPHA:2463
Mucopolysaccharidosis, Type Vi
Genu valgum, Flexion contracture, Pectus carinatum, Broad ribs, Prominent sternum, Hypoplastic ac... OMIM:253200
Nestor-Guillermo Progeria Syndrome
Delayed closure of the anterior fontanelle, Flexion contracture, Limited elbow movement, Osteolys... OMIM:614008
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... ORPHA:268882
Aspergillosis
Abnormal rib morphology, Abnormality of the vertebral column, Osteomyelitis ORPHA:1163
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Congenital contracture, Thin ribs OMIM:615368
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Lethal Congenital Contracture Syndrome 10
Stiff neck, Short neck, Narrow chest, Thoracic scoliosis, Broad ribs OMIM:617022
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Kyphosis, Pectus excavatum, Scoliosis, Abnormal rib morphology, Prominen... ORPHA:2215
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Elbow flexion contracture, Missing ribs, Butterfly vertebrae, Hip d... OMIM:200980
Schwartz-Jampel Syndrome
Wrist flexion contracture, Increased bone mineral density, Pectus excavatum, Elbow dislocation, S... ORPHA:800
Sclerosteosis 1
Sclerotic vertebral endplates, Broad clavicles, Broad ribs, Sclerotic scapulae OMIM:269500
Monosomy 9Q22.3
Kyphosis, Accelerated skeletal maturation, Pectus excavatum, Short neck, Joint hyperflexibility, ... ORPHA:77301
Thakker-Donnai Syndrome
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion ORPHA:1780
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Vertebral fusion, Vertebral segmentation defect, Accelerated skeletal ma... ORPHA:373
Severe Congenital Nemaline Myopathy
Flexion contracture, Abnormal thorax morphology, Multiple prenatal fractures, Arthrogryposis mult... ORPHA:171430
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Bifid ribs, Delayed closure of the anterior fontanelle... OMIM:607872
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Thoracic hemivertebrae, Fused cervical vertebra... ORPHA:508498
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hip subluxation, Bell-shaped thorax, Knee flexion contracture, Thoracic hypoplasia, Anterior rib ... OMIM:271665
Otosclerosis 4
Otosclerosis OMIM:611571
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Short ribs, Lateral clavicle hook, Acetabular spurs, Scoliosis OMIM:613091
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Thickened ribs, Elbow flexion contracture, Achilles tendon contrac... OMIM:252940
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Butterfly vertebrae OMIM:265380
Fibrous Dysplasia Of Bone
Abnormality of the cervical spine, Osteomalacia, Abnormal lumbar spine morphology, Rickets, Osteo... ORPHA:249
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Knee flexion contracture, Proximal symphalangism of hands, Humero... OMIM:151050
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Short ribs, Thoracic dysplasia, Lateral clavicle hook, Platyspondyly, Narrow che... OMIM:263520
Van Den Ende-Gupta Syndrome
Sacral dimple, Knee flexion contracture, Joint contracture of the hand, Short ribs, Craniosynosto... OMIM:600920
Kagami-Ogata Syndrome
Coat hanger sign of ribs, Bell-shaped thorax, Thoracic hypoplasia, Limitation of joint mobility, ... ORPHA:254519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Ovoid vertebral bodies, Scoliosis, Platyspondyly ORPHA:85167
Duane-Radial Ray Syndrome
Spina bifida occulta, Fused cervical vertebrae, Shoulder dislocation, Scoliosis OMIM:607323
Duane Retraction Syndrome
Camptodactyly, Spina bifida occulta, Abnormal vertebral segmentation and fusion, Short neck, Abno... ORPHA:233
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Coat hanger sign of ribs, Wrist flexion contracture, Flexion contracture, Thoracic hypoplasia, Pr... ORPHA:254528
Cerebrocostomandibular Syndrome
11 pairs of ribs, Bell-shaped thorax, Rib gap, Thoracic hypoplasia, Anomalous rib insertion to ve... OMIM:117650
Ellis-Van Creveld Syndrome
Horizontal ribs, Genu valgum, Capitate-hamate fusion, Short ribs, Acetabular spurs, Narrow chest,... OMIM:225500
Apert Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Limited elbow movement, Humeroradial s... OMIM:101200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Camptodactyly, Metatarsa... ORPHA:95699
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Horizontal inferior border of scapula, Short ribs, Flat acetabular roof, Cupped... OMIM:250220
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Scoliosis, Joint stiffness, Broad ribs, Lumbar hyperlordosis OMIM:277600
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Recurrent fractures, Cervical ribs, Flexion contracture of finger... OMIM:601812
Short Rib-Polydactyly Syndrome
Horizontal ribs, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Abnormal bon... ORPHA:1505
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Horizontal ribs, Bell-shaped thorax, Delayed skeletal maturation OMIM:614857
Pallister-Hall Syndrome
Distal arthrogryposis, Hip dislocation, Rib fusion, Hemivertebrae, Radial head subluxation ORPHA:672
Frontometaphyseal Dysplasia 2
Hip contracture, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Pectus excavatum, Di... OMIM:617137
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Congenital hip dislocation, Missing ribs ORPHA:1647
Xylt1-Cdg
Joint dislocation, Accelerated skeletal maturation, Joint laxity, Short clavicles, Broad ribs ORPHA:370930
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Protrusio acetabuli, Joint dislocation, Progressive congenital scoliosis, Joint laxity, Congenita... OMIM:225400
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary vertebrae, Supernumerary ribs OMIM:193500
Spondyloepimetaphyseal Dysplasia, X-Linked
Genu varum, Anterior wedging of T11, Pectus carinatum, Limited elbow extension, Kyphosis, Hypopla... OMIM:300106
Trisomy 1Q
Abnormal rib morphology, Camptodactyly of finger, Short thorax ORPHA:261344
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar dislocation, Patellar aplasia, Fused cervical vertebrae, Hip dislocation, Ca... OMIM:274000
Stuve-Wiedemann Syndrome 1
Knee flexion contracture, Talipes valgus, Elbow flexion contracture, Camptodactyly, Contracture o... OMIM:601559
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Fused cervical vertebrae, Contracture of the distal interphalangeal joi... ORPHA:83617
Hyperparathyroidism, Transient Neonatal
Recurrent fractures, Short ribs, Wide cranial sutures, Fractured rib, Osteopenia, Narrow chest, U... OMIM:618188
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Joint contracture of the hand, Flexion contracture of... OMIM:300373
Myhre Syndrome
Abnormal rib morphology, Joint stiffness, Platyspondyly ORPHA:2588
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Avascular necrosis, Genu valgum, Talipes valgus, Craniosynostosis, Joint laxity, ... ORPHA:309282
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Campomelic Dysplasia
Thoracic hypoplasia, Hip dislocation, Dislocated radial head, Absent sternal ossification, Hypopl... OMIM:114290
Cerebrocostomandibular Syndrome
Bell-shaped thorax, Posterior rib gap, Tracheomalacia, Kyphosis ORPHA:1393
Hallermann-Streiff Syndrome
Hyperlordosis, Abnormal rib cage morphology, Pectus excavatum, Joint hypermobility, Decreased num... OMIM:234100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Short ribs, Long thorax, Short neck, Lateral clavicle hook, Decreased calvarial ... OMIM:617925
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Broad ribs, Prominent sternum, Humeroradial synostosis, Broad clavicles, Elbow flexion contractur... OMIM:276820
Mucopolysaccharidosis Type 3
Increased susceptibility to fractures, Genu valgum, Flexion contracture, Avascular necrosis of th... ORPHA:581
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Short thorax, Short ribs, Thoracic dysplasia, Short neck, Narrow chest, Hypoplas... OMIM:269860
Gracile Bone Dysplasia
Decreased skull ossification, Thin ribs OMIM:602361
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Spinal canal stenosis, Delayed skeletal maturation, Scoliosis, Joint s... OMIM:608328
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Increased intervertebral space, Broad ribs, Platyspondyly OMIM:619727
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture, Thoracic hypoplasia, Epiphyseal stippling, Camptodactyly, Pectus excavatum, ... ORPHA:96334
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Tracheobronchomalacia, Hip dislocation, Camptodactyly, Pectus excavatum, Short nec... OMIM:613458
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Short sternum, Humeroradial synostosis, Short ribs, Short neck, Ab... ORPHA:3404
Monosomy 9P
Limitation of joint mobility, Short neck, Scoliosis, Abnormal rib morphology, Abnormality of the ... ORPHA:261112
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Metopic suture patent to nasal root, Increased density of long bones, Sclerosis of... OMIM:269150
Eiken Syndrome
Flat acetabular roof, Delayed ossification of carpal bones, Delayed tarsal ossification, Broad ri... OMIM:600002
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Wrist flexion contracture, Thoracic hypoplasia, Hip contracture, Congeni... OMIM:208150
Vater/Vacterl Association
Abnormal sternum morphology, Radioulnar synostosis, Abnormal vertebral morphology, Scoliosis, Abn... OMIM:192350
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis, Genu valgum, Hip dislocation, Limited elbow extension, Broad ribs OMIM:301066
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Horizontal ribs, Short ribs, Thoracic dysplasia, Early ossification of capital femoral epiphyses,... OMIM:208500
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Short ribs, Flat acetabular roof, Unicoronal synostosis, Nar... OMIM:616300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Knee flexion contracture, Patellar hypoplasia, Hip dislocation, Pectus excavatum, Dislocated radi... OMIM:609945
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Short ribs, Aplasia of the epiglottis, Narrow chest, Short clavicles OMIM:617088
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Elbow dislocation, Delayed skeletal... ORPHA:2554
Alagille Syndrome 1
Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Patellar dislocation, Kyphosis, Recurrent fractures, Osteomalacia, Arthritis, Hip di... ORPHA:534
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Absence of the sacrum, Block vertebrae OMIM:306955
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Thickened ribs, Flexion contracture, Arthritis, Spinal canal stenosis, A... ORPHA:217085
Smith-Lemli-Opitz Syndrome
Kyphosis, Hip dislocation, Short neck, Scoliosis, Abnormal rib morphology, Abnormal form of the v... ORPHA:818
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Thickened ribs, Flexion contracture, Arthritis, Spinal canal stenosis, A... ORPHA:217093
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Narrow chest, Bone pain, Abnormal rib morphology, Osteopetrosis, Craniosynos... ORPHA:667
Restrictive Dermopathy
Camptodactyly of finger, Thin clavicles, Multiple joint contractures, Aplasia/Hypoplasia of the c... ORPHA:1662
Craniofacial Microsomia
Genu valgum, Vertebral hypoplasia, Block vertebrae, Cervical ribs, Scoliosis, Hemivertebrae OMIM:164210
Schinzel-Giedion Syndrome
Abnormal thorax morphology, Camptodactyly, Radioulnar synostosis, Sclerosis of skull base, Kyphos... ORPHA:798
Cranioectodermal Dysplasia 2
Horizontal ribs, Short ribs, Joint laxity, Pectus excavatum, Short neck, Narrow chest, Metopic sy... OMIM:613610
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology, Camptodactyly of finger, Joint hyperflexibility ORPHA:2907
Trisomy 18
Abnormal rib morphology, Camptodactyly of finger, Delayed skeletal maturation ORPHA:3380
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum OMIM:211380
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, ... ORPHA:444077
Fryns Syndrome
Thoracic hypoplasia, Joint contracture of the hand, Camptodactyly, Short neck, Broad ribs, Thin ribs OMIM:229850
Coccidioidomycosis
Osteomyelitis, Arthritis, Osteolysis, Abnormality of the vertebral column, Broad ribs ORPHA:228123
Mandibuloacral Dysplasia Progeroid Syndrome
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Genu valgum, Fle... OMIM:619127
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Stippled calcification of the shoulder, Osteomalacia, Fused cervical ver... ORPHA:51608
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Scoliosis, Abnormality of bone mineral density ORPHA:138
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Osteopetrosis OMIM:612301
Kindler Epidermolysis Bullosa
Abnormal rib morphology, Camptodactyly of finger, Flexion contracture ORPHA:2908
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:991
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Prominent floating ribs, Recurrent fractures, Pectus excavatum ORPHA:2785
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Wiedemann-Rautenstrauch Syndrome
Genu varum, Delayed closure of the anterior fontanelle, Flexion contracture, Short neck, Scoliosi... OMIM:264090
Charge Syndrome
Down-sloping shoulders, Scoliosis, Abnormal rib morphology, Hemivertebrae, Radial head subluxation OMIM:214800

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 Cdx1

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 Cdx1.

No publications found that use IMPC mice or data for Cdx1.

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MGI Allele Allele Type Produced
Cdx1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cdx1tm415943(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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