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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Abnormality of the ribs ORPHA:100073
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Costochondral pain, Intervertebral disk calcification OMIM:118610
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Short thorax, Abnormal form of the vertebral bodies, Pectus excavatum ORPHA:93302
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Abnormality of the ribs, Pectus carinatum ORPHA:3268
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Facial pal... ORPHA:2790
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis ORPHA:93304
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Pectus carinatum, Ovoid vertebral bodies, Hyperconvex vertebral body endplates, Hypopl... OMIM:184255
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Kyphosis, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short neck, Vertebral segme... ORPHA:1394
Spondylometaphyseal Dysplasia, East African Type
Ovoid vertebral bodies, Bell-shaped thorax OMIM:611702
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormal cranial nerve morphology, Abnormality of the vertebral column, Sprengel anoma... ORPHA:2345
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Optic atrophy ORPHA:1513
Thoracolaryngopelvic Dysplasia
Scoliosis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Bell-shaped thorax, Irregu... OMIM:187760
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Optic atrophy, Thoracic hypoplasia OMIM:602271
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Metatropic Dysplasia
Scoliosis, Hypoplastic cervical vertebrae, Narrow chest, Abnormal form of the vertebral bodies, K... ORPHA:2635
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Short ribs, Narrow chest OMIM:211120
Basal Cell Nevus Syndrome
Scoliosis, Abnormal sternum morphology, Sprengel anomaly, Down-sloping shoulders, Short ribs, Hem... OMIM:109400
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Pectus carinatum, Kyphosis, Pectus excavatum, Beaded ribs OMIM:259440
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Pectus carinatum, Pectus excavatum, Vertebral wedging OMIM:301014
Kuskokwim Syndrome
Scoliosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies ORPHA:1149
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Ovoid vertebral bodies, Enlargement of the costochondral junctio... OMIM:609052
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Thin ribs OMIM:615220
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Diaphanospondylodysostosis
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Aicardi Syndrome
Scoliosis, Optic disc coloboma, Rib fusion, Optic atrophy, Block vertebrae, Supernumerary ribs, M... ORPHA:50
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormality of the ribs,... ORPHA:2522
Myotonia With Skeletal Abnormalities And Mental Retardation
Pectus carinatum, Vertebral wedging, Bell-shaped thorax, Kyphoscoliosis OMIM:255710
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hemivertebrae, Abnormality of the ribs, Short neck, Abnormal form of the vertebral bodies ORPHA:2234
Acropectorovertebral Dysplasia
Spina bifida occulta at S1, Spina bifida occulta at L5, Abnormal thorax morphology, Abnormal vert... OMIM:102510
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Aicardi Syndrome
Scoliosis, Bifid ribs, Rib fusion, Hemivertebrae, Optic atrophy, Block vertebrae, Supernumerary r... OMIM:304050
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Optic atrophy, Cupped ribs, Thoracic hypoplasia ORPHA:168549
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Narrow chest, Beaking of vertebral bodies, Rib fusion, Sacral dimple, Hemivertebrae, S... OMIM:213980
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs ORPHA:1506
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia OMIM:615633
Becker Nevus Syndrome
Scoliosis, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fusion, Spina bifida occulta, Supern... ORPHA:64755
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ribs, Vertebral segmentation defect ORPHA:1836
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormal form of the vertebral bodies ORPHA:93941
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Barrel-shaped chest, Irregular vertebral endplates, Lumbar hyper... OMIM:184100
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Wide-cupped costochondral junctions, Short ribs, Small abnormally fo... OMIM:187601
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Abnormality of the ribs, Short neck ORPHA:93267
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Fused cervical vertebrae OMIM:214300
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and... OMIM:118100
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Vertebral compression fracture OMIM:616229
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Optic atrophy, Papilledema, Facial diplegia OMIM:122860
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Severe platyspondyly, Short ribs, Thin ribs, Short neck OMIM:151210
Isolated Hemihyperplasia
Scoliosis, Asymmetry of the thorax ORPHA:2128
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Thoracic hypoplasia, Ovoid vertebral bodies, Lumbar hyperlordosis, Posterior rib c... OMIM:608728
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Mosaic Trisomy 14
Abnormality of the ribs, Short neck, Narrow chest ORPHA:1703
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormality of... ORPHA:2180
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the ribs, Short neck, Abnormal form of the vertebral bodies ORPHA:1486
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... ORPHA:474
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Pectus carinatum, Lumbar hyperlordosis, Enlargement of the cos... OMIM:271650
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Scoliosis, Pectus excavatum, Missing ribs, Short ribs OMIM:618155
White Forelock With Malformations
Abnormality of the ribs, Sprengel anomaly, Spina bifida occulta ORPHA:2475
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Irregular vertebral endplates, Lumbar hype... OMIM:609616
Achondrogenesis Type 1B
Abnormality of the ribs, Short thorax, Short neck, Narrow chest ORPHA:93298
Hyperparathyroidism, Transient Neonatal
Thin ribs, Short ribs, Narrow chest OMIM:618188
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Pectus carinatum, Abnormal rib cage morphology, Kyphoscoliosis, Short neck, Hypopl... OMIM:184252
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Narrow chest, Ovoid vertebral bodies, Hypoplastic sc... OMIM:269250
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Short ribs, Short clavicles, Short neck OMIM:610319
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Anterior rib cupping, Pectus carinatum, C1-C2 subluxatio... OMIM:184250
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Congenital Pseudoarthrosis Of The Clavicle
Cervical ribs, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Irregular vertebral endplates, Thin ribs, Short neck OMIM:618395
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Short thorax, Abnormal form of the vertebral bodies, Kyphosis, Rib segmentation abnorm... ORPHA:2311
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the ribs, Missing ribs, Abnormal form of the vertebral bodies, Hemivertebrae ORPHA:2759
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs OMIM:300864
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Pectus excavatum, Cervical ribs, Abnormality of the odontoid process, Short neck OMIM:609654
Achondrogenesis, Type Ii
Horizontal ribs, Barrel-shaped chest, Absent vertebral body mineralization, Short ribs OMIM:200610
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the ribs, Platyspondyly, Pectus carinatum ORPHA:93351
Cat-Eye Syndrome
Abnormality of the ribs ORPHA:195
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Pectus carinatum, Kyphosis, Abnormal rib cage morphology, Short neck OMIM:252605
Fibrochondrogenesis
Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypoplastic scapulae, Bell-shape... ORPHA:2021
Juberg-Hayward Syndrome
Scoliosis, Abnormality of the ribs, Abnormal vertebral morphology ORPHA:2319
Grant Syndrome
Abnormality of the ribs, Sprengel anomaly, Abnormality of the glenoid fossa, Narrow chest ORPHA:2097
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, 11 pairs of ribs OMIM:300863
Femoral-Facial Syndrome
Scoliosis, Sprengel anomaly, Rib fusion, Abnormality of the ribs, Vertebral segmentation defect, ... ORPHA:1988
Nivelon-Nivelon-Mabille Syndrome
Abnormal clavicle morphology, Trapezoidal shaped vertebral bodies, Bell-shaped thorax, Narrow chest OMIM:600092
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Narrow chest ORPHA:93299
Achondrogenesis, Type Ia
Unossified vertebral bodies, Short neck, Hypoplastic scapulae, Beaded ribs, Short ribs, Broad cla... OMIM:200600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Ovoid vertebral bodies, Severe platyspondyly, Cupped ribs OMIM:608940
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs ORPHA:2643
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Short thorax, Pectus carinatum, Kyphosis, Spinal canal s... ORPHA:582
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Short ribs, Severe platyspondyly, Small abnorm... OMIM:187600
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Abnormal rib cage morphology, Pectus excavatum, Posterior rib fusion, Hemivertebrae OMIM:608406
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervical ribs, Vertebral arch anomaly OMIM:148050
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252900
Diastrophic Dwarfism
Scoliosis, Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Abnormal form of the ver... ORPHA:628
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Kyphosis, Sprengel anomaly, Pectus excavatum, Down-slopi... ORPHA:392
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Craniofaciofrontodigital Syndrome
Abnormality of the ribs, Abnormal shoulder morphology, Hypoplastic vertebral bodies, Narrow chest ORPHA:363705
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Platyspondyly, Prominent sternum, Thoracic kyphosis, Thin ribs, Optic disc ... OMIM:300232
Cooper-Jabs Syndrome
Scoliosis, Abnormality of the ribs, Missing ribs ORPHA:1488
1P36 Deletion Syndrome
Scoliosis, Kyphosis, Rib fusion, Spinal canal stenosis, 11 pairs of ribs, Optic atrophy, Bifid ribs ORPHA:1606
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Abnormality of the ribs, Short neck, Vertebral segmentation defect, Butterfly vertebrae OMIM:611209
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae ORPHA:3035
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs OMIM:601389
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormality of the ribs, Facial palsy, Pectus carinatum ORPHA:3068
Cole-Carpenter Syndrome
Scoliosis, Abnormality of the ribs, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Beaded ribs OMIM:166210
Hypophosphatasia
Abnormality of the ribs, Narrow chest ORPHA:436
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the ribs, Kyphosis, Short neck, Pectus carinatum ORPHA:3082
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Vertebral compression fracture, Biconcave vertebral bodies OMIM:617952
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared, irregular rib ends, Platyspondyly, Pear-shaped vertebrae, Irregular sclerotic endplates OMIM:602111
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs ORPHA:2772
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Platyspondyly, Short thorax, Abnormality of the vertebral column, Broad... ORPHA:239
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Prominent sternum, Ovoid vertebral bodies, Kyphosis, Fla... OMIM:253000
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoracic dysplasia, Short ribs, Narrow chest OMIM:273730
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Prominent sternum, Ovoid vertebral bodies, Kyphosis, Fla... OMIM:253010
Metaphyseal Chondrodysplasia, Schmid Type
Anterior rib cupping, Platyspondyly, Abnormal vertebral morphology, Irregular vertebral endplates... ORPHA:174
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Coronal cleft vertebrae, Narrow chest, Short ribs, Short nec... ORPHA:2347
Nestor-Guillermo Progeria Syndrome
Scoliosis, Abnormality of the ribs, Progressive clavicular acroosteolysis OMIM:614008
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Abnormality of the ribs ORPHA:85167
Three M Syndrome 2
Hyperlordosis, Short thorax, Scapular winging, Pectus carinatum, Lumbar hyperlordosis, Thin ribs,... OMIM:612921
Phaver Syndrome
Abnormality of the ribs, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Hemivertebrae, Vertebral fusion, Optic nerve hypoplasia, Supern... OMIM:206900
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Short thorax, Scapular winging, Enlarged th... ORPHA:2616
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Dysosteosclerosis
Platyspondyly, Broad ribs, Narrow chest, Short sternum, Irregular vertebral endplates, Short ribs... OMIM:224300
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs, Kyphoscoliosis ORPHA:1145
Holzgreve Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae ORPHA:2167
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Narrow chest, Short clavicles, Abnormality of the ribs ORPHA:2484
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Thin ribs, Biconcave vertebral bodies OMIM:259420
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Broad ribs, Kyphosis ORPHA:583
Brachytelephalangic Chondrodysplasia Punctata
Atlantoaxial instability, Vertebral hypoplasia, Cervical vertebral dysplasia, Cervical spinal can... ORPHA:79345
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Scapular winging OMIM:619122
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormal form of the vertebral bodies, Missing ribs, Abnormality of the ribs, Short ne... ORPHA:1834
Prune Belly Syndrome
Scoliosis, Abnormality of the ribs, Pectus excavatum, Vertebral segmentation defect ORPHA:2970
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Pectus carinatum, Ovoid vertebral bodies, Pectus excavatum, Short ribs, ... OMIM:607778
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Thin ribs, Asymmetry of the thorax OMIM:604922
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Broad ribs, Narrow chest, Thin ribs, Vertebral compression fracture OMIM:613848
Sclerosteosis 1
Broad ribs, Sclerotic vertebral endplates, Broad clavicles, Facial palsy, Sclerotic scapulae, Opt... OMIM:269500
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Thin ribs OMIM:312150
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs OMIM:618265
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly ORPHA:163966
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Cole-Carpenter Syndrome 2
Thin ribs, Platyspondyly, Kyphosis, Pectus excavatum OMIM:616294
Lethal Congenital Contracture Syndrome 5
Thin ribs, Decreased nerve conduction velocity OMIM:615368
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs ORPHA:2145
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Beaking of vertebral bodies, Kyphosis, Short neck, Hypoplastic vertebr... OMIM:230500
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Abnormality of the ribs, Optic atrophy, Mis... ORPHA:3301
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs OMIM:617895
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Thin ribs OMIM:253290
Campomelia, Cumming Type
Abnormality of the ribs, Abnormally ossified vertebrae, Abnormal thorax morphology ORPHA:1318
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Optic nerve hypoplasia OMIM:614833
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormality of the ribs, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Opsismodysplasia
Scoliosis, Anterior rib cupping, Narrow chest, Bell-shaped thorax, Severe platyspondyly, Posterio... OMIM:258480
Pontine Tegmental Cap Dysplasia
Scoliosis, Facial palsy, Rib fusion, Hemivertebrae OMIM:614688
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal clavicle morphology, Pectus carinatum, Kyphosis, Sprengel anomaly, Hypoplasti... ORPHA:958
Dyggve-Melchior-Clausen Disease
Scoliosis, Platyspondyly, Prominent sternum, Shield chest, Beaking of vertebral bodies, Thoracic ... OMIM:223800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal vertebral morphology, Thoracic hypoplasia, Cent... ORPHA:93352
Fibrochondrogenesis 1
Anterior rib cupping, Platyspondyly, Posterior vertebral hypoplasia, Thoracic hypoplasia, Hypopla... OMIM:228520
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Unilateral chest h... OMIM:308205
Renpenning Syndrome
Abnormality of the ribs, Pectus excavatum, Sprengel anomaly ORPHA:3242
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Coronal cleft vertebrae, Narrow chest, Short ribs, Short neck, Hypopla... OMIM:245190
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Ovoid thoracolumbar vertebrae, Short neck OMIM:252940
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Vertebral segmentation defect ORPHA:1120
Mucolipidosis Iii Alpha/Beta
Scoliosis, Broad ribs, Short ribs OMIM:252600
Microcephaly, Short Stature, And Limb Abnormalities
Abnormality of the ribs OMIM:617604
Chromosome 1P36 Deletion Syndrome
Scoliosis, Rib fusion, 11 pairs of ribs, Optic atrophy, Optic disc pallor, Bifid ribs OMIM:607872
Microcephaly-Micromelia Syndrome
Abnormality of the ribs, Short neck, Narrow chest OMIM:251230
Trisomy 13
Scoliosis, Narrow chest, Kyphosis, Abnormality of the ribs, Optic atrophy ORPHA:3378
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Abnormality of the ribs, Aplastic cla... ORPHA:2769
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormality of the ribs, Platyspondyly, Abnormal scapula morphology, Narrow chest ORPHA:93317
Lethal Congenital Contracture Syndrome 10
Broad ribs, Short neck, Thoracic scoliosis, Narrow chest OMIM:617022
Mucopolysaccharidosis, Type Vi
Prominent sternum, Broad ribs, Ovoid vertebral bodies, Anterior wedging of L2, Lumbar hyperlordos... OMIM:253200
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Flaring of rib cage, Fused cervical vertebrae, Broad ribs OMIM:612852
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, Vertebral arch anomaly ORPHA:85184
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Hypertrichotic Osteochondrodysplasia, Cantu Type
Platyspondyly, Broad ribs, Narrow chest, Ovoid vertebral bodies, Cuboid-shaped vertebral bodies, ... ORPHA:1517
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Kyphosis, Thin ribs, Barrel-shaped chest, Vertebral compression fracture OMIM:610915
Craniofaciofrontodigital Syndrome
Pectus excavatum, Short neck, Hypoplastic vertebral bodies, Broad ribs OMIM:114620
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Horizontal ribs, Short ribs, Unossified... ORPHA:3003
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Platyspondyly, Anterior rib cupping, Kyphoscoliosis OMIM:184253
Radio-Renal Syndrome
Abnormality of the ribs, Short neck, Abnormal form of the vertebral bodies ORPHA:3015
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Thoracic hypoplasia, Beaded ribs, Short ribs, Multiple rib fractures, Short neck OMIM:616897
Alagille Syndrome
Abnormal form of the vertebral bodies, Spina bifida occulta, Abnormality of the ribs, Butterfly v... ORPHA:52
Cardiospondylocarpofacial Syndrome
Scoliosis, Fused cervical vertebrae, Rib fusion OMIM:157800
Pseudoachondroplasia
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Lumbar hyperlordosis, Atlantoaxi... OMIM:177170
Severe Congenital Nemaline Myopathy
Thin ribs, Facial palsy, Abnormal thorax morphology, Facial diplegia ORPHA:171430
Cartilage-Hair Hypoplasia
Scoliosis, Aganglionic megacolon, Lumbar hyperlordosis, Narrow vertebral interpedicular distance,... OMIM:250250
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Thin clavicles ORPHA:93324
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Thin clavicles OMIM:244460
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Thoracic hypoplasia, Hypoplas... OMIM:114290
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Supernumerary ribs OMIM:612447
Cenani-Lenz Syndrome
Scoliosis, Abnormality of the ribs, Abnormal form of the vertebral bodies ORPHA:3258
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Short ribs, Lumbar hyperlordosis, Irregular chondrocostal junctions, Flat glenoid foss... OMIM:250420
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Abnormal thorax morphology, Narrow chest, Abnormal form of the vertebral bodies ORPHA:73230
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Abnormal vertebral morphology, Hemivertebrae ORPHA:77298
Mosaic Trisomy 8
Scoliosis, Narrow chest, Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:96061
Poland Syndrome
Scoliosis, Pectus carinatum, Abnormal sternum morphology, Kyphosis, Sprengel anomaly, Short ribs,... ORPHA:2911
Frontometaphyseal Dysplasia 1
Scoliosis, Scapular winging, Anteriorly placed odontoid process, Coat hanger sign of ribs, Fused ... OMIM:305620
Multiple Synostoses Syndrome 1
Abnormal vertebral morphology, Pectus excavatum, Short sternum, Hypoplastic spinal processes, Spi... OMIM:186500
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Abnormality of the ribs ORPHA:1300
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Long clavicles, Kyphoscoliosis OMIM:608149
Vacterl/Vater Association
Abnormality of the ribs, Abnormality of the intervertebral disk, Vertebral segmentation defect, A... ORPHA:887
Cleidocranial Dysplasia
Scoliosis, Narrow chest, Hypoplastic scapulae, Down-sloping shoulders, Short clavicles, Spina bif... ORPHA:1452
Craniometadiaphyseal Dysplasia
Scoliosis, Broad ribs OMIM:269300
Occipital Horn Syndrome
Platyspondyly, Broad ribs, Narrow chest, Orthostatic hypotension, Pectus carinatum, Kyphosis, Pec... OMIM:304150
Cartilage-Hair Hypoplasia
Scoliosis, Hyperlordosis, Short thorax, Biconvex vertebral bodies, Narrow chest, Abnormal form of... ORPHA:175
Hurler Syndrome
Scoliosis, Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal nerve conduction... ORPHA:93473
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Narrow chest, Ovoid vertebral bodies, Enlargement of the costochondral junc... OMIM:260400
Kyphomelic Dysplasia
Anterior rib cupping, Platyspondyly, Lateral clavicle hook, Thoracic hypoplasia, Undulate ribs OMIM:211350
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Rib fusion, Abnormal vertebral morphology ORPHA:261197
Oculocerebrocutaneous Syndrome
Abnormality of the ribs, Missing ribs ORPHA:1647
Aspergillosis
Abnormality of the ribs, Abnormality of the vertebral column ORPHA:1163
Antley-Bixler Syndrome
Abnormality of the ribs, Narrow chest ORPHA:83
Steinfeld Syndrome
Missing ribs, Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:184705
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Lateral clavicle hook, Thoracic hypoplasia, Horizontal ribs, Short ribs OMIM:613091
Camptodactyly Syndrome, Guadalajara Type 3
Abnormality of the ribs, Short neck, Spina bifida occulta ORPHA:488434
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Lateral clavicle hook, Narrow chest, Pectus carinatum, Horizontal ribs, Short ribs... OMIM:263520
Acrorenal-Mandibular Syndrome
Narrow chest, Hypoplastic scapulae, Hemivertebrae, Thin ribs, Abnormal sacral segmentation, Kypho... OMIM:200980
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Abnormality of the ribs, Kyphosis, Pectus excavatum ORPHA:2215
Monosomy 9Q22.3
Abnormality of the vertebral column, Kyphosis, Pectus excavatum, Abnormality of the ribs, Short neck ORPHA:77301
Trisomy 1Q
Abnormality of the ribs, Short thorax ORPHA:261344
Ellis-Van Creveld Syndrome
Pectus carinatum, Horizontal ribs, Short ribs, Narrow chest OMIM:225500
Kagami-Ogata Syndrome
Thoracic hypoplasia, Bell-shaped thorax, Coat hanger sign of ribs, Kyphoscoliosis, Short neck ORPHA:254519
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Platyspondyly, Atlantoaxial instability, Anterior rib cupping, Thoracic hypoplasia, Pe... OMIM:271665
Xylt1-Cdg
Broad ribs, Short clavicles ORPHA:370930
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Pectus excavatum, Lumbar hemivertebrae ORPHA:2463
Osteogenesis Imperfecta, Type Vii
Scoliosis, Narrow chest, Pectus excavatum, Multiple rib fractures, Vertebral compression fracture OMIM:610682
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Anterior clefting of vertebral bodies, Kyphosis, Rib fusion, Long clavicles, Fused cer... OMIM:265000
Weill-Marchesani Syndrome 1
Scoliosis, Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis OMIM:277600
Cog1-Cdg
Irregularity of vertebral bodies, Posterior rib gap, Rib fusion, Kyphoscoliosis, Short neck, Vert... ORPHA:263508
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Horizontal inferior border of scapula, Short ribs, 11 pairs of ribs,... OMIM:250220
Gracile Bone Dysplasia
Thin ribs OMIM:602361
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Abnormal sternum morphology, Pectus excavatum, Rib fusion, Spina bifida occulta, Verte... ORPHA:2990
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Lateral clavicle hook, Pectus carinatum, Short ribs, Hemivertebrae, Abnorma... OMIM:224690
X-Linked Hypophosphatemia
Sacroiliac joint synovitis, Beaded ribs, Rachitic rosary, Vertebral hyperostosis, Enlargement of ... ORPHA:89936
Waardenburg Syndrome, Type 1
Supernumerary ribs, Sprengel anomaly, Supernumerary vertebrae OMIM:193500
Otopalatodigital Syndrome Type 2
Scoliosis, Abnormality of the ribs, Narrow chest, Abnormal vertebral segmentation and fusion ORPHA:90652
Dextrocardia
Abnormality of the ribs ORPHA:1666
Stuve-Wiedemann Syndrome
Scoliosis, Thin ribs, Short neck, Abnormal autonomic nervous system physiology OMIM:601559
Fibrous Dysplasia Of Bone
Scoliosis, Abnormal clavicle morphology, Abnormal lumbar spine morphology, Abnormality of the cer... ORPHA:249
Cerebrocostomandibular Syndrome
Scoliosis, Thoracic hypoplasia, Bell-shaped thorax, Anomalous rib insertion to vertebrae, Rib gap... OMIM:117650
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Coat hanger sign of ribs, Thoracic hypoplasia, Pectus excavatum, Prominent sternum ORPHA:254528
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Lateral clavicle hook, C1-C2 vertebral abnormality, Pectus carinatum, Pectus excavatum... OMIM:182212
Schwartz-Jampel Syndrome
Scoliosis, Hyperlordosis, Platyspondyly, Pectus carinatum, Kyphosis, Pectus excavatum, Sprengel a... ORPHA:800
Renal Dysplasia-Limb Defects Syndrome
Thin ribs, Short neck, Short ribs, Short sternum OMIM:266910
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis, Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Decreased nu... OMIM:234100
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Pectus excavatum, Rib fusion, Thoracic hemivertebrae, Vertebral fu... OMIM:268310
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Short ribs, Long thorax, Short neck OMIM:617925
Cerebrocostomandibular Syndrome
Posterior rib gap, Kyphosis, Bell-shaped thorax ORPHA:1393
Myhre Syndrome
Abnormality of the ribs, Platyspondyly ORPHA:2588
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Bell-shaped thorax, Horizontal ribs, Short ribs, Narrow chest OMIM:616300
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Pectus carinatum, Kyphosis, Anterior wedging of T12, Lumbar hyperlordosis, Posteri... OMIM:300106
Van Den Ende-Gupta Syndrome
Thin ribs, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus excavatum OMIM:600920
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Optic nerve compression, Multiple rib fractures OMIM:612301
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Platyspondyly, Ovoid vertebral bodies, Flaring of rib cage, Irregular vertebral endplates, Abnorm... OMIM:271640
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Short ribs, Narrow chest, Short clavicles OMIM:617088
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Short ribs, Thoracic dysplasia OMIM:208500
Wolf-Hirschhorn Syndrome
Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Abnormal form of t... ORPHA:280
Pagod Syndrome
Abnormality of the ribs, Optic atrophy, Abnormal clavicle morphology ORPHA:991
Short Rib-Polydactyly Syndrome
Narrow chest, Thoracic hypoplasia, Hypoplastic scapulae, Horizontal ribs, Short ribs, Absent or m... ORPHA:1505
Short-Rib Thoracic Dysplasia 12
Short thorax, Narrow chest, Hypoplastic scapulae, Horizontal ribs, Short ribs, Short neck, Thorac... OMIM:269860
Osteogenesis Imperfecta
Scoliosis, Narrow chest, Abnormal form of the vertebral bodies, Biconcave vertebral bodies, Thora... ORPHA:666
Femoral-Facial Syndrome
Scoliosis, Sprengel anomaly, Dysplastic sacrum, Rib fusion, Hemivertebrae, Absent vertebra, Missi... OMIM:134780
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Sacral dimple ORPHA:544488
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Thoracolumbar kyphosis, Broad ribs, Pectus excavatum, Facial palsy, Spina bifida occul... OMIM:300373
Monosomy 9P
Scoliosis, Abnormality of the ribs, Short neck, Abnormality of the vertebral column ORPHA:261112
Eiken Syndrome
Broad ribs OMIM:600002
Ulbright-Hodes Syndrome
Short sternum, Short ribs, Thin ribs, Ovoid thoracolumbar vertebrae, Abnormality of the ribs, Sho... ORPHA:3404
Mucopolysaccharidosis Type 3
Scoliosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormality of th... ORPHA:581
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Platyspondyly, Pectus carinatum, Pectus excavatum, Short neck, Optic disc pallor ORPHA:309282
Weill-Marchesani Syndrome 2
Scoliosis, Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis OMIM:608328
Simpson-Golabi-Behmel Syndrome
Scoliosis, Pectus excavatum, Vertebral fusion, Abnormality of the ribs, Short neck, Vertebral seg... ORPHA:373
Vater/Vacterl Association
Scoliosis, Abnormal sternum morphology, Abnormality of the ribs, Abnormal vertebral morphology OMIM:192350
Baller-Gerold Syndrome
Scoliosis, Abnormal vertebral morphology, Rib fusion, Spina bifida occulta, Optic atrophy OMIM:218600
Alagille Syndrome 1
Abnormality of the ribs, Butterfly vertebral arch, Hemivertebrae OMIM:118450
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Anterior rib cupping, Absent glenoid fossa, Prominent sternum, Narrow chest, Thoracic ... ORPHA:96334
Zttk Syndrome
Scoliosis, Kyphosis, Rib fusion, Hemivertebrae, Cervical ribs, Optic atrophy OMIM:617140
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Broad ribs, Short sternum, Long clavicles, Short neck, Hypoplasia of fir... OMIM:269150
Robinow Syndrome
Scoliosis, Rib fusion, Fused thoracic vertebrae, Hemivertebrae, Kyphoscoliosis, Missing ribs ORPHA:97360
Autosomal Recessive Robinow Syndrome
Scoliosis, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fusion, Sacral dimple, Short neck, V... ORPHA:1507
Smith-Lemli-Opitz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Aganglionic megacolon, Optic atrophy,... ORPHA:818
Trisomy 18
Abnormality of the ribs ORPHA:3380
Autosomal Recessive Malignant Osteopetrosis
Abnormality of the ribs, Optic nerve compression, Narrow chest ORPHA:667
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Narrow chest, Abnormal vertebral morphology, Hypoplastic scapulae, Abnormality of the ... ORPHA:95699
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Broad ribs, Barrel-shaped chest, Pectus carinatum, Hemivertebrae, Broad clavic... OMIM:276820
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Long clavicles, Fused cervical vertebrae, Cleft vertebral arch ORPHA:83617
Myhre Syndrome
Platyspondyly, Broad ribs, Enlarged vertebral pedicles, Vertebral fusion, Short neck OMIM:139210
Hereditary Acrokeratotic Poikiloderma
Abnormality of the ribs ORPHA:2907
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Abnormal vertebral morphology, Papilledema, Spinal canal stenosis, Optic atrophy ORPHA:217085
Charge Syndrome
Scoliosis, Abnormal cranial nerve morphology, Hemivertebrae, Facial palsy, Abnormality of the rib... ORPHA:138
Pallister-Hall Syndrome
Rib fusion, Hemivertebrae OMIM:146510
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Abnormal vertebral morphology, Papilledema, Spinal canal stenosis, Optic atrophy ORPHA:217093
Fetal Akinesia Deformation Sequence 1
Thin ribs, Thoracic hypoplasia, Short neck OMIM:208150
Lenz-Majewski Hyperostotic Dwarfism
Broad ribs, Broad clavicles OMIM:151050
Ear-Patella-Short Stature Syndrome
Abnormality of the ribs, Aplastic clavicle ORPHA:2554
Cranioectodermal Dysplasia 2
Narrow chest, Pectus excavatum, Horizontal ribs, Short ribs, Short neck OMIM:613610
Fryns Syndrome
Broad ribs, Thoracic hypoplasia, Aganglionic megacolon, Thin ribs, Short neck OMIM:229850
Schinzel-Giedion Syndrome
Scoliosis, Abnormal clavicle morphology, Sacrococcygeal teratoma, Broad ribs, Aganglionic megacol... ORPHA:798
Kindler Epidermolysis Bullosa
Abnormality of the ribs ORPHA:2908
Wolf-Hirschhorn Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Abnormal sternal ossification, Kyphosis, Rib fu... OMIM:194190
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Platyspondyly, Kyphosis, Abnormality of the ribs ORPHA:534
Coccidioidomycosis
Broad ribs, Abnormality of the vertebral column ORPHA:228123
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin ribs, Increased anterioposteri... ORPHA:1662
Charge Syndrome
Scoliosis, Down-sloping shoulders, Hemivertebrae, Facial palsy, Abnormality of the ribs OMIM:214800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Undulate ribs, Pectus excavatum, Short neck, Short clavicles OMIM:609945
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Pectus excavatum, Supernumerary ribs OMIM:619127
Townes-Brocks Syndrome
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:857
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Hemivertebrae, Lumbar hyperlordosis, Cervical ribs, Optic nerve hypoplasia, Kyphoscol... ORPHA:500150
Wiedemann-Rautenstrauch Syndrome
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.

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

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