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Gene: Hoxb6 MGI:96187

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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:
homeobox B6
Synonyms:
Hox-2.2

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 Hoxb6 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 Hoxb6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... OMIM:609813
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:2790
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Pectus carinatum, Hyperconvex vertebr... OMIM:184255
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... ORPHA:1801
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Sprengel ... ORPHA:40
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology ORPHA:1513
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Vertebral wedging, Abnor... OMIM:109400
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... ORPHA:2635
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Optic atrophy, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia OMIM:602271
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis OMIM:259440
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Kuskokwim Syndrome
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:1149
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Pectus excavatum, Thoracic scoliosis, Shield chest, Short neck OMIM:616994
Aicardi Syndrome
Block vertebrae, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, Supernumerary ribs... ORPHA:50
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Spondylometaphyseal Dysplasia, Type A4
Ovoid vertebral bodies, Enlargement of the costochondral junction, Pectus carinatum, Platyspondyl... OMIM:609052
Myotonia With Skeletal Abnormalities And Mental Retardation
Bell-shaped thorax, Vertebral wedging, Kyphoscoliosis, Pectus carinatum OMIM:255710
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Aicardi Syndrome
Block vertebrae, Missing ribs, Optic disc coloboma, Hemivertebrae, Rib fusion, Optic atrophy, Sup... OMIM:304050
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... ORPHA:2522
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Hypersulfaturia
Costochondral pain OMIM:620372
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Abnormal thorax morphology, Abnormal vertebral morphology, Spina bifi... OMIM:102510
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Short neck, Pectus excavatum, Rib f... OMIM:213980
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Isolated Hemihyperplasia
Asymmetry of the thorax, Scoliosis ORPHA:2128
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1836
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis OMIM:618155
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... OMIM:184100
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest ORPHA:93267
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Thickened ribs, Optic atrophy, Facial diplegia OMIM:122860
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, Hypoplasia of the... OMIM:156530
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ... ORPHA:168549
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Greenberg Dysplasia
Abnormally ossified vertebrae, Anterior rib punctate calcifications, Abnormal form of the vertebr... ORPHA:1426
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... OMIM:609616
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Pectus carin... OMIM:271650
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh... ORPHA:2311
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Achondrogenesis Type 1B
Short thorax, Abnormal rib morphology, Narrow chest, Short neck ORPHA:93298
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs ORPHA:2759
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Pectus carinatum, Abnormal rib cage morphology, Scoliosis OMIM:252605
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs OMIM:609654
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ... OMIM:618395
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Platys... OMIM:184250
Grant Syndrome
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest ORPHA:2097
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,... OMIM:187601
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... OMIM:619698
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Abnormal rib morphology, Pectus carinatum ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Platyspondyly, Posterior rib cupp... OMIM:608728
Juberg-Hayward Syndrome
Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis ORPHA:2319
Femoral-Facial Syndrome
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, S... ORPHA:1988
Fibrochondrogenesis
Hypoplastic scapulae, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies,... ORPHA:2021
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... ORPHA:392
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Thin ribs OMIM:300863
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Achondrogenesis Type 1A
Multiple rib fractures, Short thorax, Narrow chest, Short neck ORPHA:93299
Diastrophic Dysplasia
Abnormal clavicle morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:628
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis... ORPHA:582
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hypoplasia OMIM:166210
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis OMIM:601389
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Cooper-Jabs Syndrome
Abnormal rib morphology, Scoliosis, Missing ribs ORPHA:1488
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
1P36 Deletion Syndrome
11 pairs of ribs, Kyphosis, Rib fusion, Spinal canal stenosis, Optic atrophy, Scoliosis, Bifid ribs ORPHA:1606
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal rib morphology, Facial palsy, Pectus carinatum ORPHA:3068
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:2050
Hypophosphatasia
Abnormal rib morphology, Narrow chest ORPHA:436
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum ORPHA:3082
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, Wafer-thin platyspondy... OMIM:151210
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs OMIM:617952
Osteogenesis Imperfecta, Type Xvi
Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Vertebral compression fracture OMIM:616229
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Anterior rib cupping, Osteosclerosis of ribs, Irregular vertebral endplates... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Missouri Type
Platyspondyly, Pear-shaped vertebrae, Flared, irregular rib ends, Irregular sclerotic endplates OMIM:602111
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Phaver Syndrome
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Bell-shaped thorax, Platyspondyly, Short ribs, Scoliosis, Verte... OMIM:602557
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... OMIM:612921
3M Syndrome
Scapular winging, Short neck, Hyperlordosis, Increased vertebral height, Kyphosis, Short thorax, ... ORPHA:2616
Melnick-Needles Syndrome
Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles, Scoliosis, Anisospondyly ORPHA:2484
Prune Belly Syndrome
Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis ORPHA:2970
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis, Thin ribs OMIM:259420
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Dysosteosclerosis
Sclerotic scapulae, Increased intervertebral space, Optic atrophy, Hypoplastic vertebral bodies, ... OMIM:224300
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho... OMIM:200600
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short neck, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspo... ORPHA:2347
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Optic nerve hypoplasia, Abnormality of the costochondral junction, Atlantoaxia... ORPHA:79345
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs, Kyphoscoliosis ORPHA:1145
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Optic disc pallor, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid p... OMIM:300232
Axial Mesodermal Dysplasia Spectrum
Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebr... ORPHA:1834
Mucopolysaccharidosis Type 6
Broad ribs, Kyphosis, Ovoid vertebral bodies, Short neck ORPHA:583
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Optic disc pallor, Optic disc coloboma, Optic atrophy, Rib fusion, Scoliosis, B... OMIM:607872
Pontine Tegmental Cap Dysplasia
Facial palsy, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Optic atrophy, Abnormal rib m... ORPHA:3301
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Thin ribs OMIM:312150
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Platyspondyly,... OMIM:187600
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... ORPHA:239
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Thin ribs OMIM:614833
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Thin rib... ORPHA:958
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... OMIM:230500
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... ORPHA:93352
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Thin ribs OMIM:253290
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617895
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Thin ribs OMIM:615368
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Dyggve-Melchior-Clausen Disease
Barrel-shaped chest, Hypoplastic scapulae, Lumbar hyperlordosis, Flaring of lower rib cage, Short... OMIM:223800
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Thin clavicles, Thin ribs... OMIM:228520
Cole-Carpenter Syndrome 2
Pectus excavatum, Kyphosis, Platyspondyly, Thin ribs OMIM:616294
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Thin ribs, Platyspondyly, Narrow chest, Scoliosis, Br... OMIM:613848
Mucolipidosis Iii Alpha/Beta
Broad ribs, Short ribs, Scoliosis OMIM:252600
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis OMIM:184253
Trisomy 13
Kyphosis, Optic atrophy, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:3378
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2769
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Sclerosteosis 1
Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, Broad ribs, Sclero... OMIM:269500
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Narrow chest, ... ORPHA:1517
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... OMIM:253010
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, Vertebral arch anomaly ORPHA:85184
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short neck, Beaded ribs, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:616897
Radio-Renal Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Alagille Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sp... ORPHA:52
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short r... OMIM:250420
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral compression fracture OMIM:610915
Bent Bone Dysplasia Syndrome 2
Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Butterf... OMIM:620076
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Narrow chest, Abnormal form of the vertebral bodies, Thin ribs ORPHA:73230
Severe Congenital Nemaline Myopathy
Facial diplegia, Abnormal thorax morphology, Facial palsy, Thin ribs ORPHA:171430
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Thin ribs ORPHA:93324
Kenny-Caffey Syndrome, Type 1
Thin clavicles, Long clavicles, Thin ribs OMIM:244460
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ribs, Horizont... ORPHA:3003
Cenani-Lenz Syndrome
Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:3258
Pseudoachondroplasia
Lumbar hyperlordosis, Spatulate ribs, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly... OMIM:177170
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Missing ribs, Rib fusion, Hemivert... OMIM:206900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology ORPHA:77298
Mosaic Trisomy 8
Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, Scoliosis ORPHA:96061
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs OMIM:618265
Cartilage-Hair Hypoplasia
Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lower rib cage, Hypoplasia of the odontoi... OMIM:250250
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Supernumerary ribs OMIM:612447
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Abnormal rib morphology, H... ORPHA:2911
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib morphology... ORPHA:1452
Kagami-Ogata Syndrome
Bell-shaped thorax, Long clavicles, Kyphoscoliosis, Thin ribs OMIM:608149
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Scolios... ORPHA:93473
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Scoliosis ORPHA:1300
Greenberg Dysplasia
Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ... OMIM:215140
Opsismodysplasia
Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Bell-shaped thorax, Hypopla... OMIM:258480
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ... ORPHA:887
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Platyspondyly, Thoracic hypoplasia OMIM:211350
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Aganglionic megacolon, F... ORPHA:175
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal ribs, Thoracic platysp... OMIM:618019
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Horizontal ribs OMIM:614857
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Abnormal vertebral morphology, Scoliosis ORPHA:261197
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Craniometadiaphyseal Dysplasia
Broad ribs, Scoliosis OMIM:269300
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Ovoid vertebral bodies, Enlargement of the costochondral junction, Irregula... OMIM:260400
Lethal Congenital Contracture Syndrome 10
Broad ribs, Thoracic scoliosis, Narrow chest, Short neck OMIM:617022
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest ORPHA:83
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vertebral segmenta... OMIM:611209
Myotubular Myopathy With Abnormal Genital Development
Thin ribs OMIM:300219
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Kyphosis, Abnormal rib morphology, Scoliosis ORPHA:2215
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dysplasia, Short ribs, Narrow ch... OMIM:263520
Congenital Myopathy 22B, Severe Fetal
Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Short neck, Pectus excavatum,... OMIM:620369
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Horizontal ribs OMIM:613091
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormal rib morphology, Short neck ORPHA:488434
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Thin ribs, Narrow chest, Abnor... OMIM:200980
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis ORPHA:85167
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, Sh... OMIM:607778
Trisomy 1Q
Short thorax, Abnormal rib morphology ORPHA:261344
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral column ORPHA:77301
Steinfeld Syndrome
Abnormality of the vertebral column, Abnormal vertebral morphology, Missing ribs OMIM:184705
Occipital Horn Syndrome
Orthostatic hypotension, Broad clavicles, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspon... OMIM:304150
Gracile Bone Dysplasia
Thin ribs OMIM:602361
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254519
Ellis-Van Creveld Syndrome
Short ribs, Narrow chest, Horizontal ribs, Pectus carinatum OMIM:225500
Kbg Syndrome
Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis OMIM:148050
Frontometaphyseal Dysplasia 1
Scapular winging, Fused cervical vertebrae, Coat hanger sign of ribs, Scoliosis, Cervical C2/C3 v... OMIM:305620
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... OMIM:253200
Xylt1-Cdg
Broad ribs, Short clavicles ORPHA:370930
Weill-Marchesani Syndrome 1
Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis OMIM:277600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Lumbar hemivertebrae, Thin ribs ORPHA:2463
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vert... ORPHA:263508
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Increased intervertebral space, Optic atrophy, Platyspondyly, Broad ribs, Optic... OMIM:619727
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thoracolumbar vertebrae, H... OMIM:252940
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Rib fusion, Abnormal sternum morphology, Vertebral segmentation defect, Scolios... ORPHA:2990
Hyperparathyroidism, Transient Neonatal
Undulate ribs, Thin ribs, Short ribs, Narrow chest, Fractured rib OMIM:618188
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Pectus excavatum, Thin ribs, Pectus carinatum, C1-C2 vertebral abnormality... OMIM:182212
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Posterior rib ... OMIM:117650
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Pectus excavatum, Prominent sternum, Thoracic hypoplasia, Coat hanger sign of ribs ORPHA:254528
Dextrocardia
Abnormal rib morphology ORPHA:1666
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Platyspondyly, ... OMIM:250220
Multiple Pterygium Syndrome, Escobar Variant
Long clavicles, Thoracolumbar scoliosis, Down-sloping shoulders, Short neck, Kyphosis, Rib fusion... OMIM:265000
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Anterior rib cupping, Short neck, Pectus excavatum, Hypoplasia of the odontoid process, C1-C2 sub... OMIM:271665
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
X-Linked Hypophosphatemia
Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovitis, Vertebral hyp... ORPHA:89936
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Shoulder flexion contracture, Hyperlordosis, Pectus excavatum, Kyp... ORPHA:800
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi... ORPHA:249
Otopalatodigital Syndrome Type 2
Abnormal vertebral segmentation and fusion, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:90652
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Pectus excavatum, Narrow chest, Scoliosis, Vertebral compression fracture OMIM:610682
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Optic nerve compression, Optic atrophy OMIM:612301
Meier-Gorlin Syndrome 1
Absent sternal ossification, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus car... OMIM:224690
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Short thorax, Thoracic dysplasia, Short ribs, Narrow chest, Hor... OMIM:269860
Cerebrocostomandibular Syndrome
Bell-shaped thorax, Kyphosis, Posterior rib gap ORPHA:1393
Van Den Ende-Gupta Syndrome
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus exca... OMIM:600920
Hallermann-Streiff Syndrome
Hyperlordosis, Pectus excavatum, Optic disc coloboma, Thin ribs, Abnormal rib cage morphology, De... OMIM:234100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Long thorax, Narrow chest, Short ribs, Horizontal ribs OMIM:617925
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Cupped ribs, Abnormal rib c... OMIM:271640
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs OMIM:208500
Myhre Syndrome
Platyspondyly, Abnormal rib morphology ORPHA:2588
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Rib fusion, ... ORPHA:280
Nestor-Guillermo Progeria Syndrome
Rib osteolysis, Progressive clavicular acroosteolysis, Scoliosis, Thin ribs OMIM:614008
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Pagod Syndrome
Abnormal clavicle morphology, Optic atrophy, Abnormal rib morphology ORPHA:991
Osteogenesis Imperfecta
Multiple rib fractures, Cervical kyphosis, Pectus excavatum, Kyphosis, Abnormal rib morphology, V... ORPHA:666
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Miss... OMIM:268310
Femoral-Facial Syndrome
Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae, Scoliosis, Sprengel anomaly, Dysplastic... OMIM:134780
Monosomy 9P
Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck ORPHA:261112
Stuve-Wiedemann Syndrome 1
Ovoid vertebral bodies, Short neck, Thin ribs, Abnormal autonomic nervous system physiology, Scol... OMIM:601559
Eiken Syndrome
Broad ribs OMIM:600002
Osteopathia Striata With Cranial Sclerosis
Facial palsy, Pectus excavatum, Straight clavicles, Scoliosis, Thoracolumbar kyphosis, Broad ribs... OMIM:300373
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Optic atrophy, Abnormal rib morphology, Abnormal form of the verteb... ORPHA:581
Premature Aging Syndrome, Penttinen Type
Cervical ribs, Scoliosis, Thin ribs OMIM:601812
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Horizontal ribs OMIM:617088
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Platyspondyly, Kyphoscoliosis, Thin ribs OMIM:225400
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Thickened ribs, Short neck, Pectus excavatum, Pectus carinatum, Platyspondyly ORPHA:309282
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs OMIM:616300
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Absent sternal ossifica... OMIM:114290
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Vertebral se... ORPHA:1507
Ulbright-Hodes Syndrome
Short neck, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin ribs, Short sternum, Sho... ORPHA:3404
Vater/Vacterl Association
Abnormal sternum morphology, Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis OMIM:192350
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Pect... OMIM:300106
Weill-Marchesani Syndrome 2
Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis OMIM:608328
Lenz-Majewski Hyperostotic Dwarfism
Broad ribs, Spina bifida occulta, Hemivertebrae, Broad clavicles OMIM:151050
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation d... ORPHA:373
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormal rib morphology, Narrow chest ORPHA:667
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Kyphoscoliosis, Short neck, Pectus ex... ORPHA:96334
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Short neck, Kyphosis, Abnormal rib morphology, Optic atrophy, Abnormal for... ORPHA:818
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Scoliosis ORPHA:97360
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Short neck, Hypoplasia of first ribs, Short sternum, Bro... OMIM:269150
Zttk Syndrome
Kyphosis, Rib fusion, Hemivertebrae, Optic atrophy, Cervical ribs, Scoliosis OMIM:617140
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Hyperlordosis OMIM:301066
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Abnormal rib morphology, Narrow chest, Scoliosis, Abnormal vertebral morpho... ORPHA:95699
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Pallister-Hall Syndrome
Rib fusion, Hemivertebrae OMIM:146510
Trisomy 18
Abnormal rib morphology ORPHA:3380
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Pilonidal sinus, Broad clavicles, Congenital pseudoarthrosis of the clavicle... OMIM:276820
Charge Syndrome
Facial palsy, Abnormal rib morphology, Hemivertebrae, Optic atrophy, Scoliosis, Abnormal cranial ... ORPHA:138
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Thickened ribs, Optic atrophy, Spinal canal stenosis, Abnormal vertebral morphology ORPHA:217085
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Cleft vertebral arch, Long clavicles, Thin ribs ORPHA:83617
Myhre Syndrome
Vertebral fusion, Short neck, Enlarged vertebral pedicles, Platyspondyly, Broad ribs OMIM:139210
Fryns Syndrome
Aganglionic megacolon, Short neck, Thin ribs, Broad ribs, Thoracic hypoplasia OMIM:229850
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Thickened ribs, Optic atrophy, Spinal canal stenosis, Abnormal vertebral morphology ORPHA:217093
Ear-Patella-Short Stature Syndrome
Abnormal rib morphology, Aplastic clavicle ORPHA:2554
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Cranial nerve compression, Optic atrophy, Prominent floating ribs ORPHA:2785
Cardiospondylocarpofacial Syndrome
Fused cervical vertebrae, Rib fusion, Herniation of intervertebral nuclei, Scoliosis OMIM:157800
Cranioectodermal Dysplasia 2
Short neck, Pectus excavatum, Short ribs, Narrow chest, Horizontal ribs OMIM:613610
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Rib fusion, Abnormal f... OMIM:194190
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Sacrococcygeal teratoma, Aganglionic megacolon, Kyphoscoliosis, Sho... ORPHA:798
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Platyspondyly, Abnormal rib morphology, Scoliosis ORPHA:534
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Undulate ribs, Short clavicles, Short neck OMIM:609945
Fetal Akinesia Deformation Sequence 1
Short neck, Thoracic hypoplasia, Thin ribs OMIM:208150
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Thin ribs, Increase... ORPHA:1662
Coccidioidomycosis
Broad ribs, Abnormality of the vertebral column ORPHA:228123
Baller-Gerold Syndrome
Optic nerve hypoplasia, Optic atrophy, Rib fusion, Scoliosis, Spina bifida occulta, Abnormal vert... OMIM:218600
Mandibuloacral Dysplasia Progeroid Syndrome
Pectus excavatum, Supernumerary ribs, Thin ribs OMIM:619127
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Optic nerve hypoplasia, Kyphoscoliosis, Rib fusion, Hemivertebrae, Optic at... ORPHA:500150
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Charge Syndrome
Facial palsy, Down-sloping shoulders, Abnormal rib morphology, Hemivertebrae, Scoliosis OMIM:214800
Wiedemann-Rautenstrauch Syndrome
Short neck, Narrow chest, Scoliosis, Thin ribs OMIM:264090
Pallister-Hall Syndrome
Rib fusion, Hemivertebrae ORPHA:672

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 Hoxb6

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 Hoxb6.

No publications found that use IMPC mice or data for Hoxb6.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hoxb6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hoxb6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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