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Gene: Pofut1 MGI:2153207

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

protein O-fucosyltransferase 1

Synonyms:

O-FucT-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 Pofut1 mutations

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

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

Human diseases associated with Pofut1 (2 diseases)
Human diseases predicted to be associated with Pofut1 (429 diseases)

The table below shows human diseases associated to Pofut1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Dowling-Degos Disease 2			OMIM:615327
Dowling-Degos Disease			ORPHA:79145

The table below shows human diseases predicted to be associated to Pofut1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck	OMIM:608681
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta,...	OMIM:613686
Sprengel Deformity	Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R...	OMIM:184400
Spondylocostal Dysostosis 6, Autosomal Recessive	Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis	OMIM:616566
Spondylocostal Dysostosis 3, Autosomal Recessive	Vertebral segmentation defect, Kyphosis, Rib fusion, Scoliosis, Hypoplasia of the odontoid proces...	OMIM:609813
Spondylocostal Dysostosis 5	Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum...	OMIM:122600
Spinal Dysplasia, Anhalt Type	Spinal dysplasia, Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar ...	OMIM:601344
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ...	OMIM:277300
Cervical Vertebral Dysplasia	Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy...	OMIM:118005
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Spondylometaphyseal Dysplasia, Corner Fracture Type	Scoliosis, Short femoral neck, Pectus carinatum, Hyperconvex vertebral body endplates, Ovoid vert...	OMIM:184255
Autosomal Dominant Spondylocostal Dysostosis	Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,...	ORPHA:1797
Becker Nevus Syndrome	Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis	OMIM:604919
Odontoid Hypoplasia	Atlantoaxial instability, Cervical instability, Dystopic os odontoideum, Hypoplasia of the odonto...	OMIM:613628
Familial Scheuermann Disease	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3135
Poland Syndrome	Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae	OMIM:173800
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum	OMIM:615709
Dwarfism With Tall Vertebrae	Increased vertebral height	OMIM:126950
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Short ribs, Short neck, Platyspon...	OMIM:602557
Becker Nevus Syndrome	Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Micromelia, Spina bifida occulta, Pectus carin...	ORPHA:64755
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Vertebral segmentation defect, Narrow chest, Hemivertebrae, 11 pairs of ribs, Rhizomelia	OMIM:617661
Gurrieri Syndrome	Decreased anterioposterior diameter of lumbar vertebral bodies	OMIM:601187
Brachyolmia, Maroteaux Type	Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax	ORPHA:93302
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacrum morphology, ...	ORPHA:1436
Dysostosis Multiplex, Ain-Naz Type	Hemivertebrae, Scoliosis, Glenoid fossa hypoplasia	OMIM:619345
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Richieri Costa-Da Silva Syndrome	Beaking of vertebral bodies, Kyphoscoliosis, Pectus carinatum, Decreased anterioposterior diamete...	ORPHA:3101
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Short neck, Abnormal form of the vertebral bodies	ORPHA:2234
Lethal Kniest-Like Dysplasia	Narrow chest, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Anterior rib c...	ORPHA:2347
Acromesomelic Dysplasia, Maroteaux Type	Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebra...	ORPHA:40
Polydactyly, Postaxial, With Dental And Vertebral Anomalies	Spinal canal stenosis, Narrow chest, Kyphoscoliosis, Hypoplastic vertebral bodies, Pectus excavat...	OMIM:263540
Autosomal Recessive Spondylocostal Dysostosis	Vertebral segmentation defect, Kyphosis, Rib fusion, Abnormal intervertebral disk morphology, Sho...	ORPHA:2311
Holoprosencephaly, Semilobar, With Craniosynostosis	Short distal phalanx of finger, Hypoplastic vertebral bodies	OMIM:601370
Metatropic Dysplasia	Narrow chest, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Micromelia, Long thorax...	ORPHA:2635
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Thoracic hemivertebrae, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis	OMIM:309620
Axial Spondylometaphyseal Dysplasia	Narrow chest, Thoracic scoliosis, Short ribs, Platyspondyly, Scoliosis, Short femoral neck, Upper...	ORPHA:168549
Caudal Regression Syndrome	Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis, Arrhinenceph...	ORPHA:3027
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ...	ORPHA:2916
Dysosteosclerosis	Irregular vertebral endplates, Narrow chest, Hypoplastic vertebral bodies, Short sternum, Increas...	OMIM:224300
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency	Hemivertebrae, Pectus excavatum, Posterior rib fusion, Abnormal rib cage morphology	OMIM:608406
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m...	ORPHA:2180
Autosomal Dominant Brachyolmia	Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax	ORPHA:93304
Braddock Syndrome	Pectus excavatum, Hemivertebrae, Micrognathia, Short neck, Scoliosis, Missing ribs	ORPHA:52047
Brachydactyly, Type B1	Hypoplastic sacrum, Hemivertebrae, Thoracolumbar scoliosis, Short middle phalanx of finger, Verte...	OMIM:113000
Femoral-Facial Syndrome	Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Aplasia/Hypoplasia of the tibia, Sho...	ORPHA:1988
Symbrachydactyly Of Hands And Feet	Vertebral segmentation defect, Aplasia/Hypoplasia of the thumb, Scoliosis, Aplasia/Hypoplasia of ...	ORPHA:1570
Patterson Pseudoleprechaunism Syndrome	Kyphoscoliosis, Cervical platyspondyly, Ovoid thoracolumbar vertebrae, Irregular sclerotic endpla...	OMIM:169170
Acrodysplasia Scoliosis	Vertebral segmentation defect, Scoliosis, Spina bifida occulta	ORPHA:2956
Greenberg Dysplasia	Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p...	OMIM:215140
Opsismodysplasia	Narrow chest, Hypoplastic vertebral bodies, Short metacarpal, Short neck, Scoliosis, Anterior rib...	OMIM:258480
Gm1-Gangliosidosis, Type I	Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Short neck, ...	OMIM:230500
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs	ORPHA:2759
Diastrophic Dysplasia	Kyphoscoliosis, Lumbar hyperlordosis, Costal cartilage calcification, Scoliosis, Short finger, Ce...	OMIM:222600
Verheij Syndrome	Hemivertebrae, Short neck, Scoliosis, Short 5th finger, Vertebral fusion	OMIM:615583
Kniest-Like Dysplasia, Lethal	Narrow chest, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Rhizomelia, Br...	OMIM:245190
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Small hand, Scoliosis, Abnormal thorax morphology, Thoracic hemivertebrae	ORPHA:1445
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Limb undergr...	OMIM:230600
Fibrodysplasia Ossificans Progressiva	Short 1st metacarpal, Scoliosis, Short hallux, Small cervical vertebral bodies, Progressive cervi...	OMIM:135100
Dysosteosclerosis	Irregular vertebral endplates, Platyspondyly, Hypoplastic vertebral bodies	ORPHA:1782
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormal rib morphology, Scoliosis, Pectus carinatum	ORPHA:3268
Opsismodysplasia	Pectus excavatum, Hypoplastic vertebral bodies, Narrow chest, Abnormally ossified vertebrae	ORPHA:2746
Trigonocephaly 1	Lumbar hemivertebrae	OMIM:190440
Infantile Liver Failure Syndrome 3	Beaking of vertebral bodies, Platyspondyly, Hypoplastic vertebral bodies	OMIM:618641
Acro-Renal-Mandibular Syndrome	Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Thin ribs, Hypopla...	ORPHA:958
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Aphalangy With Hemivertebrae	Hemivertebrae, Aplasia of the phalanges of the toes, Aphalangy of hands and feet	OMIM:207620
Kyphomelic Dysplasia	Narrow chest, Undulate ribs, Micrognathia, Anterior rib cupping, Abnormal form of the vertebral b...	ORPHA:1801
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,...	OMIM:271520
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Pectus carinatum, ...	OMIM:609223
Cerebrofaciothoracic Dysplasia	Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Hemiverteb...	ORPHA:1394
Heart Defects-Limb Shortening Syndrome	Narrow chest, Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodi...	ORPHA:1354
Oculogastrointestinal Neurodevelopmental Syndrome	Hemivertebrae, Sacral dimple	OMIM:619318
Dextrocardia With Unusual Facies And Microphthalmia	Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Micrognathia	OMIM:221950
Craniofaciofrontodigital Syndrome	Pectus excavatum, Short neck, Broad ribs, Hypoplastic vertebral bodies	OMIM:114620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Spondylolisthesis, Hemivertebrae, Barrel-shaped chest, Short neck, Scoliosis, Pectus carinatum, V...	OMIM:178110
Gorlin Syndrome	Hemivertebrae, Vertebral wedging, Scoliosis, Vertebral fusion	ORPHA:377
Atelosteogenesis, Type I	Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Encephalocele, Thoracic...	OMIM:108720
Kuskokwim Syndrome	Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the ...	ORPHA:1149
Brachytelephalangic Chondrodysplasia Punctata	Spinal canal stenosis, Short distal phalanx of finger, Butterfly vertebrae, Atlantoaxial instabil...	ORPHA:79345
Endosteal Hyperostosis, Worth Type	Abnormal rib morphology, Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the ver...	ORPHA:2790
Osteogenesis Imperfecta, Type Xix	Pectus excavatum, Scoliosis, Biconcave vertebral bodies, Pectus carinatum, Rhizomelia, Vertebral ...	OMIM:301014
Schneckenbecken Dysplasia	Narrow chest, Hypoplastic vertebral bodies, Short ribs, Short neck, Micromelia, Abnormal form of ...	ORPHA:3144
Spondyloepimetaphyseal Dysplasia, Shohat Type	Squared-off platyspondyly, Narrow vertebral interpedicular distance, Short neck, Platyspondyly, S...	ORPHA:93352
Basal Cell Nevus Syndrome	Sprengel anomaly, Bifid ribs, Kyphoscoliosis, Abnormal sternum morphology, Short distal phalanx o...	OMIM:109400
Fibrochondrogenesis 1	Short palm, Thin ribs, Short ribs, Long clavicles, Thin clavicles, Small hand, Platyspondyly, Sho...	OMIM:228520
Brachyolmia Type 1, Toledo Type	Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra...	OMIM:271630
Ritscher-Schinzel Syndrome 1	Hemivertebrae, Micrognathia, Missing ribs	OMIM:220210
Isolated Klippel-Feil Syndrome	Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh...	ORPHA:2345
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Hypoplastic vertebral bodies	ORPHA:2163
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Aplasia/Hypoplasia involving bones of the thorax, Rhizomelic leg shortening, Short ribs, Long cla...	ORPHA:397715
Mucopolysaccharidosis, Type Iiid	Thickened ribs, Thoracic scoliosis, Hypoplastic vertebral bodies, Short neck, Ovoid thoracolumbar...	OMIM:252940
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short distal phalanx of finger, Lumbar hyperlordosis, Vertebral fusion, Biconvex vertebral bodies...	ORPHA:93315
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Platyspondyly, Flared, irregular rib ends, Micromelia	ORPHA:168555
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp...	OMIM:184100
Proximal 16P11.2 Microduplication Syndrome	Hemivertebrae, Scoliosis	ORPHA:370079
Diastrophic Dysplasia	Kyphosis, Abnormal clavicle morphology, Micrognathia, Scoliosis, Abnormal form of the vertebral b...	ORPHA:628
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Beaking of vertebral bodies T12-L3, Platyspondyly, Pectus carinatum...	ORPHA:79255
Osteoarthritis With Mild Chondrodysplasia	Irregular vertebral endplates, Beaking of vertebral bodies, Schmorl's node, Platyspondyly	OMIM:604864
Acrocapitofemoral Dysplasia	Narrow chest, Pectus excavatum, Scoliosis, Micromelia, Pectus carinatum, Hyperlordosis, Ovoid ver...	ORPHA:63446
Pontine Tegmental Cap Dysplasia	Hemivertebrae, Rib fusion, Scoliosis	OMIM:614688
Bresek Syndrome	Hemivertebrae, Scoliosis	ORPHA:85284
Poland Syndrome	Vertebral segmentation defect, Kyphosis, Sprengel anomaly, Abnormal sternum morphology, Absent ha...	ORPHA:2911
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Hemivertebrae, 11 pairs of ribs	ORPHA:77298
Spondyloepiphyseal Dysplasia, Stanescu Type	Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly	OMIM:616583
Neural Tube Defects, Susceptibility To	Myelomeningocele, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymmetry of spinal f...	OMIM:182940
Acrodysostosis 1 With Or Without Hormone Resistance	Spinal canal stenosis, Hypoplastic vertebral bodies, Narrow vertebral interpedicular distance, Sc...	OMIM:101800
Greenberg Dysplasia	Narrow chest, Anterior rib punctate calcifications, Abnormally ossified vertebrae, Micrognathia, ...	ORPHA:1426
Congenital Amegakaryocytic Thrombocytopenia	Short neck, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3319
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Small hand, Platyspondyly, Short palm, Hypoplasia of the odontoid process, Irregularity of verteb...	ORPHA:85172
Dysspondyloenchondromatosis	Vertebral segmentation defect, Kyphoscoliosis, Platyspondyly, Scoliosis, Anisospondyly	ORPHA:85198
3C Syndrome	Kyphosis, Hemivertebrae, Micrognathia, Short neck, Scoliosis, Missing ribs	ORPHA:7
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Hand oligodactyly	ORPHA:3104
Progressive Non-Infectious Anterior Vertebral Fusion	Kyphosis, Spinal rigidity, Hemivertebrae, Micrognathia, Abnormality of the vertebral column, Scol...	ORPHA:2062
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Hemivertebrae, Short neck, Scoliosis, Hemiatrophy, Abnormal thorax morphology, Rh...	OMIM:302960
Al Kaissi Syndrome	Small hand, Hemivertebrae, Sacral dimple	OMIM:617694
Metatropic Dysplasia	Narrow chest, Kyphosis, Kyphoscoliosis, Relatively short spine, Short ribs, Platyspondyly, Scolio...	OMIM:156530
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral segmentation defect, Vertebral fusion, Short thorax, Sacral dimple	OMIM:618845
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Short neck, Abnormal rib morphology	ORPHA:2578
Robinow Syndrome, Autosomal Recessive 1	Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Umbili...	OMIM:268310
Microphthalmia, Syndromic 3	Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary...	OMIM:206900
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hemivertebrae, Pectus excavatum, Scoliosis, Umbilical hernia	OMIM:104350
Acrorenal-Mandibular Syndrome	Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Hypoplasia of the radius, Hemiverte...	OMIM:200980
Acrofacial Dysostosis, Palagonia Type	Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Hypop...	OMIM:601829
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies	OMIM:272200
Caudal Duplication	Myelomeningocele, Vertebral segmentation defect, Bifid sacrum, Abnormal sacrum morphology, Spina ...	ORPHA:1756
Aicardi Syndrome	Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Block verteb...	OMIM:304050
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Pectus carinatum, Enlargement of the cos...	OMIM:271650
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Patchy distortion of vertebrae, Vertebral clefting	OMIM:155050
Thoracolaryngopelvic Dysplasia	Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-sha...	OMIM:187760
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Hemivertebrae, Short femoral neck, Pectus carinatum, Vertebral clefting	OMIM:614701
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Short neck, Missing ribs	OMIM:619859
Intellectual Developmental Disorder, Autosomal Dominant 1	Hemivertebrae, Micrognathia, Scoliosis, Clavicular pseudarthrosis, Short middle phalanx of finger...	OMIM:156200
Osteogenesis Imperfecta, Type Ix	Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Pectus carinatum, Short lower limbs, Beaded...	OMIM:259440
Mosaic Trisomy 9	Hemivertebrae, Micrognathia, Short neck, Scoliosis, Micromelia, Supernumerary ribs, Spina bifida	ORPHA:99776
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Thoracic hemivertebrae, Scoliosis	OMIM:619721
Meier-Gorlin Syndrome 1	Abnormal rib cage morphology, Thin ribs, Short ribs, Absent glenoid fossa, Hemivertebrae, Lateral...	OMIM:224690
Autosomal Recessive Multiple Pterygium Syndrome	Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Microgn...	ORPHA:2990
Vacterl With Hydrocephalus	Hypoplasia of the radius, Hemivertebrae, Micrognathia, Abnormal form of the vertebral bodies, Arr...	ORPHA:3412
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Sprengel anomaly, Beaking of vertebral bodies, Rib fusion, Pectus excavatum, Narrow chest, Bifid ...	OMIM:213980
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Sprengel anomaly, Kyphosis, Hemivertebrae, Short neck, Scoliosis	OMIM:618223
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple	ORPHA:2064
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Rib fusion, Micrognathia, Scoliosis	ORPHA:261197
Camptodactyly Syndrome, Guadalajara Type 2	Pectus excavatum, Short 3rd toe, Cuboid-shaped vertebral bodies, Patellar hypoplasia, Short 5th t...	ORPHA:1326
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Prominent sternum, Hypoplasia of the radius, Hemivertebrae, Barrel-shaped chest, Short neck, Pect...	OMIM:276820
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Vertebral wedging, Pectus carinatum, Bell-shaped thorax	OMIM:255710
Multiple Pterygium Syndrome, Escobar Variant	Kyphosis, Rib fusion, Anterior clefting of vertebral bodies, Long clavicles, Micrognathia, Short ...	OMIM:265000
Pseudotrisomy 13 Syndrome	Hemivertebrae, Encephalocele, 11 pairs of ribs	OMIM:264480
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Vertebral segmentation defect, Mesomelia	ORPHA:2631
Neuronal Intranuclear Inclusion Disease	Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta	ORPHA:2289
Congenital Disorder Of Glycosylation, Type Iig	Vertebral segmentation defect, Butterfly vertebrae, Small hand, Micrognathia, Short neck, Scolios...	OMIM:611209
Femoral-Facial Syndrome	Sprengel anomaly, Rib fusion, Short fifth metatarsal, Dysplastic sacrum, Short fourth metatarsal,...	OMIM:134780
Mesomelic Dysplasia, Kantaputra Type	Vertebral segmentation defect, Mesomelia, Abnormal rib morphology	ORPHA:1836
Acrodysostosis With Multiple Hormone Resistance	Spinal canal stenosis, Short toe, Hypoplastic vertebral bodies, Narrow vertebral interpedicular d...	ORPHA:280651
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Short clavicles, Short ribs, Absent middle phalanx of 3rd finger, Micrognathia, Absent middle pha...	OMIM:308050
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Narrow chest, Abnormal clavicle morphology, Micrognathia, Platyspondyly, Short neck, Abnormal rib...	ORPHA:93267
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis, Umbilical hernia, Absent frontal sinuses	OMIM:301040
Smith-Mccort Dysplasia 1	Kyphosis, Beaking of vertebral bodies, Prominent sternum, Atlantoaxial instability, Barrel-shaped...	OMIM:607326
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Micrognathia, Short neck, Hyperlordosis...	ORPHA:2522
Orofaciodigital Syndrome Xi	Kyphoscoliosis, Hypoplasia of the odontoid process	OMIM:612913
Kbg Syndrome	Rib fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, Cervical ribs, Short palm, Ver...	OMIM:148050
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Micrognathia, Platyspondyly, Shor...	OMIM:264180
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Scoliosis, Anterior rib cupping, Pectus carinatum, Hyperlordosis, C1-C2 subluxatio...	OMIM:184250
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck	ORPHA:1780
Aicardi Syndrome	Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae...	ORPHA:50
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Limb under...	OMIM:618961
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Narrow chest, Severe limb shortening, Thin ribs, Short ribs, Disc-like vertebral bodies, Short ne...	OMIM:151210
Acrocapitofemoral Dysplasia	Pectus excavatum, Hypoplasia of the radius, Micromelia, Pectus carinatum, Hypoplasia of the ulna,...	OMIM:607778
Achondrogenesis Type 1B	Narrow chest, Micrognathia, Short neck, Micromelia, Abnormal rib morphology, Short thorax, Umbili...	ORPHA:93298
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Pectus excavatum, Prominent sternum, Absent glenoid fossa, Hemivertebrae, Short 1st metacarpal, S...	ORPHA:96334
Robinow Syndrome	Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebr...	ORPHA:97360
Hypochondroplasia	Spinal canal stenosis, Short toe, Scoliosis, Abnormal form of the vertebral bodies, Micromelia, H...	ORPHA:429
Cog1-Cdg	Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Butterfly vertebrae, Posterior rib gap...	ORPHA:263508
Atelosteogenesis Type Ii	Cervical kyphosis, Narrow chest, Short metacarpal, Short ribs, Short femur, Micrognathia, Short n...	ORPHA:56304
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Pectus excavatum, Microretrognathia, Micrognathia, Short neck, Short 5th fing...	ORPHA:508498
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Microcephalic Primordial Dwarfism, Montreal Type	Vertebral segmentation defect, Kyphosis, Micrognathia, Scoliosis	ORPHA:2617
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Abnormal rib morphology, Ethmoidal encephalocele	ORPHA:280195
Mucopolysaccharidosis, Type Iva	Kyphosis, Prominent sternum, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Sco...	OMIM:253000
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Mesomelic arm s...	OMIM:609616
Camptodactyly Syndrome, Guadalajara, Type I	Short palm, Lumbar hyperlordosis, Pectus excavatum, Absent ethmoidal sinuses, Short metatarsal, H...	OMIM:211910
Ghosal Hematodiaphyseal Dysplasia	Abnormal form of the vertebral bodies	ORPHA:1802
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2370
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Pectus excavatum, Thin ribs	ORPHA:2463
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Abnormal rib morphology, Sho...	ORPHA:93351
Autosomal Recessive Robinow Syndrome	Vertebral segmentation defect, Kyphosis, Rib fusion, Pectus excavatum, Short distal phalanx of fi...	ORPHA:1507
Schneckenbecken Dysplasia	Narrow chest, Narrow vertebral interpedicular distance, Short ribs, Platyspondyly, Short neck, An...	OMIM:269250
Spondylometaphyseal Dysplasia, Kozlowski Type	Short distal phalanx of finger, Kyphosis, Short toe, Lumbar hyperlordosis, Short metatarsal, Incr...	ORPHA:93314
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa	Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Short humerus, Sh...	OMIM:610319
Cloacal Exstrophy	Myelomeningocele, Hemivertebrae, Spina bifida, Absent foot	ORPHA:93929
Atelosteogenesis Type Iii	Absent humerus, Micrognathia, Short tibia, Abnormal cervical curvature, Vertebral hypoplasia, Tho...	ORPHA:56305
Non-Syndromic Anorectal Malformation	Myelomeningocele, Hemivertebrae, Hemisacrum	ORPHA:557
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Wolf-Hirschhorn Syndrome	Kyphosis, Rib fusion, Micrognathia, Abnormality of the vertebral column, Scoliosis, Abnormal form...	ORPHA:280
Autosomal Dominant Robinow Syndrome	Pectus excavatum, Hemivertebrae, Micrognathia, Short neck, Scoliosis, Abnormal form of the verteb...	ORPHA:3107
Split Cord Malformation	Myelomeningocele, Kyphoscoliosis, Butterfly vertebrae, Cervical spina bifida, Back pain, Abnormal...	ORPHA:573278
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Short neck, Abnormal form of the vertebral bodies, Hyperlordosis, Short thorax, Umbilical hernia	ORPHA:3218
Baller-Gerold Syndrome	Rib fusion, Hypoplasia of the radius, Micrognathia, Carpal bone aplasia, Scoliosis, Short humerus...	OMIM:218600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Irregular vertebral endplates, Thin ribs, Short neck, Platyspondyly, Scoliosis, Short femoral nec...	OMIM:618395
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Vertebral segmentation defect, Short distal phalanx of finger, Abnormal rib morphology, Spina bif...	ORPHA:1120
Mucopolysaccharidosis, Type Ivb	Kyphosis, Prominent sternum, Platyspondyly, Scoliosis, Hyperlordosis, Flaring of rib cage, Ovoid ...	OMIM:253010
Diaphanospondylodysostosis	Vertebral segmentation defect, Unossified sacrum, Micrognathia, Short neck, Absent in utero rib o...	OMIM:608022
Pallister-Hall Syndrome	Distal shortening of limbs, Rib fusion, Hemivertebrae, Mesomelia, Short 4th metacarpal	OMIM:146510
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Hemivertebrae, Aplasia/Hypoplasia of the phalanges of the toes, Asymmetry of the thorax	ORPHA:1112
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Abnormal rib cage morphology, Short neck, Platyspondyly, Scoliosis, Pectus carina...	OMIM:184252
Sheldon-Hall Syndrome	Vertebral segmentation defect, Micrognathia, Short neck, Scoliosis, Aplasia/Hypoplasia of the radius	ORPHA:1147
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Biconcave vertebral bodies, Vertebral compression fracture	OMIM:613982
Posterior Meningocele	Occipital meningocele, Neural tube defect, Meningocele, Thoracic hemivertebrae, Lipomyelomeningocele	ORPHA:268810
White Forelock With Malformations	Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology	ORPHA:2475
Oeis Complex	Myelomeningocele, Hemivertebrae, 11 pairs of ribs, Sacral segmentation defect, Absence of the sacrum	OMIM:258040
7Q11.23 Microduplication Syndrome	Pectus excavatum, Hemivertebrae, Micrognathia, Short neck, Sacral dimple	ORPHA:96121
Lethal Congenital Contracture Syndrome Type 1	Abnormal rib morphology, Micrognathia, Short neck, Abnormal form of the vertebral bodies	ORPHA:1486
Kabuki Syndrome	Butterfly vertebrae, Vertebral clefting, Small hand, Hemivertebrae, Scoliosis, Abnormal form of t...	ORPHA:2322
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Scoliosis, Severe platyspondyly, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, ...	OMIM:608940
Spondyloepiphyseal Dysplasia Tarda	Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphoscoliosis...	ORPHA:93284
Camptodactyly Syndrome, Guadalajara Type 1	Narrow chest, Short distal phalanx of finger, Short toe, Pectus excavatum, Abnormal form of the v...	ORPHA:1327
Spondyloepiphyseal Dysplasia Congenita	Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Barrel-shaped chest, Platyspondyly, Sho...	OMIM:183900
Diamond-Blackfan Anemia 1	Narrow chest, Hypoplastic coccygeal vertebrae, Absent thumb, Hypoplasia of the radius, Micrognath...	OMIM:105650
Incontinentia Pigmenti	Hemivertebrae, Kyphoscoliosis, Supernumerary ribs	OMIM:308300
Dyggve-Melchior-Clausen Syndrome, X-Linked	Lumbar hyperlordosis, Prominent sternum, Hypoplastic sacrum, Barrel-shaped chest, Platyspondyly, ...	OMIM:304950
Smith-Mccort Dysplasia 2	Short metatarsal, Barrel-shaped chest, Short neck, Platyspondyly, Pectus carinatum, Hypoplasia of...	OMIM:615222
Tibial Hemimelia	Myelomeningocele, Mesomelic leg shortening, Absent tibia, Partial absence of foot, Absent hallux,...	ORPHA:93322
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vertebral segmentation defect, Micrognathia	ORPHA:1166
Anophthalmia Plus Syndrome	Vertebral segmentation defect, Spina bifida	ORPHA:1104
X-Linked Dominant Chondrodysplasia Punctata	Kyphoscoliosis, Anterior rib punctate calcifications, Abnormally ossified vertebrae, Neuropathic ...	ORPHA:35173
Larsen Syndrome	Beaking of vertebral bodies, Pectus excavatum, Short metacarpal, Spondylolysis, Scoliosis, Spina ...	OMIM:150250
Dyggve-Melchior-Clausen Disease	Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Prominent sternum, Short metatarsal,...	OMIM:223800
Mosaic Trisomy 14	Narrow chest, Micrognathia, Short neck, Abnormal rib morphology	ORPHA:1703
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Long clavicles, Aplasia/Hypoplasia of the clavicles, Micrognathia, Aplasia/...	ORPHA:2839
Zttk Syndrome	Kyphosis, Rib fusion, Small hand, Hemivertebrae, Scoliosis, Cervical ribs, Short foot	OMIM:617140
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh...	OMIM:118100
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies	ORPHA:1837
Hajdu-Cheney Syndrome	Short distal phalanx of finger, Kyphosis, Short toe, Partial absence of toe, Micrognathia, Short ...	ORPHA:955
Axial Mesodermal Dysplasia Spectrum	Vertebral segmentation defect, Micrognathia, Short neck, Scoliosis, Abnormal form of the vertebra...	ORPHA:1834
Atelosteogenesis, Type Iii	Horizontal sacrum, Micrognathia, Short neck, Scoliosis, Rhizomelia, Cervical segmentation defect,...	OMIM:108721
Acrofacial Dysostosis, Rodríguez Type	Sprengel anomaly, Aplasia/Hypoplasia of the ulna, Microretrognathia, Hand oligodactyly, Abnormal ...	ORPHA:1788
Holt-Oram Syndrome	Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, Down-sl...	ORPHA:392
Pseudoachondroplasia	Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Abnormal form of the...	ORPHA:750
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Pectus carinatum, Vertebral wedging	OMIM:259450
Jeune Syndrome	Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Micromelia, Abnormal rib...	ORPHA:474
Fibrochondrogenesis	Narrow chest, Short ribs, Short neck, Micromelia, Abnormal form of the vertebral bodies, Bell-sha...	ORPHA:2021
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Distal shortening of limbs, Thin ribs, Platyspondyly, 11 pairs of ribs, Rhizomelia, Hypoplasia of...	OMIM:300863
Alagille Syndrome	Vertebral segmentation defect, Short distal phalanx of finger, Micrognathia, Abnormal form of the...	ORPHA:52
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Rib fusion, Sacral dimple	ORPHA:544488
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Atlantoaxial instability, Horizontal inferior border of scapula, Abn...	ORPHA:239
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Distal Monosomy 17Q	Small hand, Micromelia, Abnormal form of the vertebral bodies, Short thorax, Aplasia/Hypoplasia o...	ORPHA:1597
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Broad ribs...	OMIM:619698
Prune Belly Syndrome	Vertebral segmentation defect, Pectus excavatum, Scoliosis, Abnormal rib morphology	ORPHA:2970
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Micrognathia, Scoliosis, Abnormal form of the vertebral bodies, Rhi...	ORPHA:2645
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Abnormal form of the vertebral bodies, Hyperlordosis, Rhizomelia, Short metacarpal	ORPHA:2831
Diabetic Embryopathy	Vertebral segmentation defect, Micrognathia, Spinal dysraphism, Abnormal sacrum morphology	ORPHA:1926
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Barrel-shaped chest, Scoliosis, Abnormal form of the vertebral bodies, Rhizomelia...	ORPHA:263463
Juberg-Hayward Syndrome	Hypoplasia of the radius, Scoliosis, Abnormal rib morphology, Abnormal vertebral morphology, Shor...	ORPHA:2319
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Prominent sternum, Thin ribs, Platyspondyly, Short neck, Anterior rib cupping, Short femoral neck...	OMIM:300232
Achondrogenesis, Type Ia	Narrow chest, Short clavicles, Severe limb shortening, Short ribs, Hypoplastic sacrum, Hypoplasia...	OMIM:200600
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Vertebral segmentation defect, Micrognathia, Scoliosis, Hyperlordosis	ORPHA:1323
Geroderma Osteodysplastica	Beaking of vertebral bodies, Platyspondyly, Biconcave vertebral bodies, Abnormal form of the vert...	ORPHA:2078
Phaver Syndrome	Myelomeningocele, Butterfly vertebrae, Abnormal form of the vertebral bodies, Abnormal rib morpho...	ORPHA:2876
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Bell-shaped thorax, Limb undergrowth, Thoracic hypoplasia, Beaded ribs	OMIM:166210
Iniencephaly	Myelomeningocele, Anencephaly, Hyperlordosis, Spinal dysraphism, Rhizomelia, Mandibular aplasia, ...	ORPHA:63259
Acrofacial Dysostosis, Palagonia Type	Small hand, Micrognathia, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Spina bif...	ORPHA:1787
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Micrognathia, Short neck, Pectus carinatum, Aplasia/Hypoplasia of toe, Abnormal rib mor...	ORPHA:3082
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia	OMIM:252900
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Micrognathia, Biconcave vertebral bodies, Vertebral compression fracture, Umbilical he...	OMIM:617952
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphoscoliosis, Thoracic scoliosis, Thin ribs, Short 1st meta...	OMIM:114290
Multiple Epiphyseal Dysplasia Type 4	Short toe, Short metacarpal, Micrognathia, Scoliosis, Short femoral neck, Upper limb undergrowth,...	ORPHA:93307
Alagille Syndrome 1	Short distal phalanx of finger, Hemivertebrae, Abnormal rib morphology, Hypoplasia of the ulna, B...	OMIM:118450
Mucopolysaccharidosis Type 4	Spinal canal stenosis, Kyphosis, Platyspondyly, Short neck, Scoliosis, Pectus carinatum, Hyperlor...	ORPHA:582
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Abnormal rib morphology, Micrognathia, Hypoplastic distal segments of scapulae, Pectus excavatum	OMIM:602196
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Vertebral segmentation defect, Phocomelia	ORPHA:3004
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Abnormal rib morphology	OMIM:300864
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Kyphosis, Micrognathia, Short neck, Abnormal form of the vertebra...	ORPHA:3098
Trisomy 10P	Hemivertebrae, Short toe, Micrognathia	ORPHA:171929
Distal Monosomy 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Anencephaly, Abnormal form of the vertebral bodies	ORPHA:1590
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the...	ORPHA:3109
Holoprosencephaly 13, X-Linked	Thoracic hemivertebrae, Micrognathia, Butterfly vertebrae, Vertebral clefting	OMIM:301043
Cooper-Jabs Syndrome	Abnormal rib morphology, Scoliosis, Missing ribs, Umbilical hernia	ORPHA:1488
Metaphyseal Acroscyphodysplasia	Short toe, Platyspondyly, Micromelia, Biconcave vertebral bodies, Scoliosis, Short humerus, Short...	OMIM:250215
Osteogenesis Imperfecta, Type Xvi	Narrow chest, Microretrognathia, Multiple rib fractures, Platyspondyly, Mesomelia, Rhizomelia, Ve...	OMIM:616229
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Hypoplastic vertebral bodies, Short femur, Short humerus, Atlantoaxial abnormalit...	ORPHA:3455
Wolf-Hirschhorn Syndrome	Kyphosis, Rib fusion, Abnormal sternal ossification, Micrognathia, Scoliosis, Abnormal form of th...	OMIM:194190
10Q22.3Q23.3 Microduplication Syndrome	Abnormal rib morphology, Abnormal clavicle morphology, Microretrognathia	ORPHA:276422
Craniodiaphyseal Dysplasia	Abnormal rib morphology	ORPHA:1513
Pseudoachondroplasia	Short distal phalanx of finger, Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Atla...	OMIM:177170
Fountain Syndrome	Short distal phalanx of finger, Kyphosis, Pectus excavatum, Scoliosis, Abnormal form of the verte...	ORPHA:3219
Diphallia	Hemivertebrae, Butterfly vertebrae, Scoliosis, Absent thumb	ORPHA:227
Doors Syndrome	Short distal phalanx of finger, Hemivertebrae, Aplasia/Hypoplasia of the phalanges of the 2nd toe...	ORPHA:79500
Melnick-Needles Syndrome	Narrow chest, Short distal phalanx of finger, Short clavicles, Micrognathia, Scoliosis, Abnormal ...	ORPHA:2484
Vacterl/Vater Association	Vertebral segmentation defect, Anencephaly, Abnormal rib morphology, Aplasia/Hypoplasia of the ra...	ORPHA:887
Grant Syndrome	Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Micrognathia, Abnormal rib morp...	ORPHA:2097
Deeah Syndrome	Cervical hemivertebrae, Short neck, Scoliosis, C1-C2 subluxation	OMIM:619004
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Micrognathia, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Kniest Dysplasia	Anterior vertebral fusion, Aplasia/hypoplasia of the extremities, Platyspondyly, Short neck, Hypo...	ORPHA:485
Cole-Carpenter Syndrome	Kyphosis, Micrognathia, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:2050
Facial Dysmorphism With Multiple Malformations	Hemivertebrae	OMIM:227255
Sialidosis Type 1	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Pectus carinatum, Short thorax	ORPHA:812
Trisomy 20P	Vertebral segmentation defect, Kyphosis, Micrognathia, Short neck, Platyspondyly, Scoliosis, Abno...	ORPHA:261318
Mosaic Trisomy 8	Vertebral segmentation defect, Narrow chest, Micrognathia, Short neck, Scoliosis, Abnormal rib mo...	ORPHA:96061
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Osteogenesis Imperfecta, Type X	Narrow chest, Thin ribs, Micrognathia, Platyspondyly, Scoliosis, Micromelia, Broad ribs, Vertebra...	OMIM:613848
Mucopolysaccharidosis, Type Vii	Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoliosis, Pectus cari...	OMIM:253220
1P36 Deletion Syndrome	Spinal canal stenosis, Kyphosis, Bifid ribs, Rib fusion, Scoliosis, 11 pairs of ribs, Short foot	ORPHA:1606
Peters-Plus Syndrome	Short toe, Pectus excavatum, Hemivertebrae, Micrognathia, Short neck, Scoliosis, Rhizomelia, Shor...	OMIM:261540
Spondylocarpotarsal Synostosis Syndrome	Vertebral segmentation defect, C2-C3 subluxation, Short neck, Scoliosis, Hypoplasia of the odonto...	OMIM:272460
Mosaic Trisomy 20	Spinal canal stenosis, Kyphosis, Vertebral segmentation defect, Narrow chest, Micrognathia, Down-...	ORPHA:1724
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Absent thumb, Hemivertebrae, Cervical ribs	ORPHA:500150
Charge Syndrome	Abnormal rib morphology, Hemivertebrae, Scoliosis	ORPHA:138
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal rib morphology, Micrognathia, Lower limb undergrowth, Abnormally ossified vertebrae	ORPHA:3035
9Q21.13 Microdeletion Syndrome	Vertebral segmentation defect, Scoliosis	ORPHA:531151
Leri Pleonosteosis	Scoliosis, Abnormal form of the vertebral bodies, Abnormally straight spine	ORPHA:2900
Charge Syndrome	Absent tibia, Hemivertebrae, Micrognathia, Down-sloping shoulders, Scoliosis, Arrhinencephaly, Sh...	OMIM:214800
Cardiospondylocarpofacial Syndrome	Rib fusion, Scoliosis, Fused cervical vertebrae, Short foot, Herniation of intervertebral nuclei	OMIM:157800
White-Sutton Syndrome	Micrognathia, Short neck, Hypoplastic cervical vertebrae	OMIM:616364
Solitary Bone Cyst	Back pain, Abnormal form of the vertebral bodies	ORPHA:83468
Lateral Meningocele Syndrome	Kyphosis, Pectus excavatum, Micrognathia, Short neck, Scoliosis, Abnormal form of the vertebral b...	ORPHA:2789
Cardiospondylocarpofacial Syndrome	Short palm, Abnormal form of the vertebral bodies	ORPHA:3238
Cartilage-Hair Hypoplasia	Narrow chest, Abnormally ossified vertebrae, Small hand, Biconvex vertebral bodies, Short neck, S...	ORPHA:175
Mycetoma	Back pain, Abnormal form of the vertebral bodies, Vertebral compression fracture, Abnormal thorax...	ORPHA:2583
Cenani-Lenz Syndrome	Hypoplasia of the radius, Micromelia, Scoliosis, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:3258
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Micrognathia, Hypoplastic coccygeal vertebrae	OMIM:619512
Craniofacial Microsomia	Hemivertebrae, Micrognathia, Scoliosis, Cervical ribs, Vertebral hypoplasia, Branchial anomaly, B...	OMIM:164210
Cartilage-Hair Hypoplasia	Narrow chest, Lumbar hyperlordosis, Prominent sternum, Asymmetry of the thorax, Narrow vertebral ...	OMIM:250250
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Vertebral segmentation defect, Kyphosis, Short middle phalanx of finger, Scoliosis	ORPHA:1005
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol...	OMIM:308205
Koolen-De Vries Syndrome	Vertebral segmentation defect, Kyphosis, Pectus excavatum, Scoliosis, Vertebral fusion	ORPHA:96169
Verloove Vanhorick-Brubakk Syndrome	Limb undergrowth, Micrognathia, Abnormal form of the vertebral bodies	ORPHA:3429
Pallister-Hall Syndrome	Rib fusion, Microretrognathia, Hemivertebrae, Arrhinencephaly, Umbilical hernia, Short 4th metaca...	ORPHA:672
Scarf Syndrome	Short sternum, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Umbilical hernia	ORPHA:3134
Chromosome 1Q41-Q42 Deletion Syndrome	Vertebral segmentation defect, Pectus excavatum, Scoliosis	OMIM:612530
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Narrow chest, Short distal phalanx of finger, Thin ribs, Micrognathia, Short 5th finger, Abnormal...	ORPHA:73230
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Irregular vertebral endplates, Barrel-shaped chest, Platyspondyly, Hyperlordosis, Carpal bone hyp...	OMIM:226980
Radio-Renal Syndrome	Hypoplasia of the radius, Micrognathia, Short neck, Micromelia, Abnormal form of the vertebral bo...	ORPHA:3015
Fetal Alcohol Syndrome	Vertebral segmentation defect, Micrognathia	ORPHA:1915
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Pectus excavatum, Short 1st metacarpal, Micrognathia, Abnormal fo...	ORPHA:949
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal rib morphology, Pectus carinatum, Hyperlordosis	ORPHA:3068
Multiple Synostoses Syndrome 1	Spinal canal stenosis, Pectus excavatum, Short sternum, Short humerus, Short hallux, Enlargement ...	OMIM:186500
Microcephaly-Micromelia Syndrome	Narrow chest, Forearm undergrowth, Micrognathia, Short tibia, Short neck, Micromelia, Abnormal ri...	OMIM:251230
Jung Syndrome	Abnormal form of the vertebral bodies	ORPHA:2321
Scarf Syndrome	Short sternum, Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus car...	OMIM:312830
Chromosome 1P36 Deletion Syndrome, Distal	Bifid ribs, Rib fusion, 11 pairs of ribs, Scoliosis, Short 5th finger, Short foot	OMIM:607872
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Lumbar hyperlordosis, Prominent sternum, Pectus carinatum, Broad ribs, Ovoid vert...	OMIM:253200
Faundes-Banka Syndrome	Lumbar hemivertebrae, Micrognathia	OMIM:619376
Cleidocranial Dysplasia	Narrow chest, Short clavicles, Micrognathia, Down-sloping shoulders, Scoliosis, Spina bifida occu...	ORPHA:1452
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Aplastic clavicle, Abnormal rib morph...	ORPHA:2769
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Abnormal scapula morphology, Platyspondyly, Rhizomelic arm shortening, Abnormal rib...	ORPHA:93317
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Micrognathia, Butterfly vertebrae, Posterior rib fusion	OMIM:265380
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus excavatum, Short metacarpal, Short ribs, Atlantoaxial instability, Micrognathia, Platyspon...	OMIM:271665
Craniosynostosis, Herrmann-Opitz Type	Abnormal rib morphology, Micrognathia, Micromelia	ORPHA:2145
Larsen Syndrome	Vertebral segmentation defect, Short distal phalanx of finger, Scoliosis, Abnormality of the cerv...	ORPHA:503
Trisomy 13	Narrow chest, Kyphosis, Scoliosis, Abnormal rib morphology	ORPHA:3378
Campomelia, Cumming Type	Abnormal rib morphology, Abnormal thorax morphology, Micromelia, Abnormally ossified vertebrae	ORPHA:1318
Kyphomelic Dysplasia	Short metacarpal, Short femur, Undulate ribs, Micrognathia, Platyspondyly, Anterior rib cupping, ...	OMIM:211350
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Micromelia	ORPHA:2772
Otopalatodigital Syndrome Type 2	Myelomeningocele, Narrow chest, Abnormal vertebral segmentation and fusion, Micrognathia, Scolios...	ORPHA:90652
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Hypocalcemic Vitamin D-Resistant Rickets	Scoliosis, Abnormal form of the vertebral bodies, Abnormal thorax morphology	ORPHA:93160
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hemivertebrae, Scoliosis	OMIM:201750
Sirenomelia	Aplasia/Hypoplasia of the radius, Spina bifida, Absence of the sacrum, Sirenomelia	ORPHA:3169
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Abnormal rib morphology, Missing ribs, Tetraamelia	ORPHA:3301
Aarskog-Scott Syndrome	Pectus excavatum, Short neck, Scoliosis, Short 5th finger, Short foot, Short palm, Hypoplasia of ...	OMIM:305400
Renpenning Syndrome	Sprengel anomaly, Pectus excavatum, Abnormal rib morphology	ORPHA:3242
Holzgreve Syndrome	Abnormal rib morphology, Abnormally ossified vertebrae	ORPHA:2167
Distal Monosomy 6P	Vertebral segmentation defect, Micrognathia, Scoliosis, Short foot, Short palm	ORPHA:96125
Osteogenesis Imperfecta, Type Viii	Kyphosis, Thin ribs, Barrel-shaped chest, Platyspondyly, Scoliosis, Vertebral compression fractur...	OMIM:610915
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Spinal canal stenosis, Micrognathia, Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, Sh...	OMIM:616007
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology	ORPHA:2643
Hurler Syndrome	Kyphosis, Short clavicles, Short neck, Biconcave vertebral bodies, Hypoplasia of the femoral head...	OMIM:607014
Sacral Defect With Anterior Meningocele	Myelomeningocele, Anterior sacral meningocele, Hemisacrum, Back pain, Meningocele, Absence of the...	OMIM:600145
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Vertebral segmentation defect, Hypoplasia of the radius, Hypoplasia of the ulna, Phocomelia, Miss...	ORPHA:3186
Camptodactyly Syndrome, Guadalajara Type 3	Distal shortening of limbs, Small hand, Short neck, Spina bifida occulta, Abnormal rib morphology...	ORPHA:488434
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Mucolipidosis Ii Alpha/Beta	Pectus excavatum, Atlantoaxial dislocation, Abnormal rib cage morphology, Lower thoracic interped...	OMIM:252500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical instability, Aplasia/hyp...	ORPHA:508533
2Q31.1 Microdeletion Syndrome	Vertebral segmentation defect, Kyphosis, Micrognathia, Short neck, Scoliosis, Short foot, Short palm	ORPHA:251014
Apert Syndrome	Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia of the thumb, ...	ORPHA:87
Shprintzen-Goldberg Syndrome	Narrow chest, Pectus excavatum, Micrognathia, Scoliosis, Abnormal form of the vertebral bodies, P...	ORPHA:2462
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Abnormal rib morphology, Mesomelia, Patellar aplasia, Short metacarpal	OMIM:617604
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs	ORPHA:2519
Kaposiform Lymphangiomatosis	Abnormal scapula morphology, Abnormal form of the vertebral bodies, Abnormal thorax morphology, A...	ORPHA:464329
Currarino Syndrome	Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum	ORPHA:1552
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Short distal phalanx of the thumb, Short humerus, Short hallux, Hy...	ORPHA:959
Hypophosphatasia	Narrow chest, Abnormal rib morphology	ORPHA:436
Pyknoachondrogenesis	Enlarged thorax, Unossified sacrum, Short ribs, Micromelia, Poorly ossified vertebrae, Horizontal...	ORPHA:3003
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vertebral segmentation defect, Scoliosis, Branchial anomaly	ORPHA:453499
Spondyloepimetaphyseal Dysplasia, X-Linked	Kyphosis, Short clavicles, Lumbar hyperlordosis, Short metacarpal, Anterior wedging of T11, Platy...	OMIM:300106
Schwartz-Jampel Syndrome	Sprengel anomaly, Kyphosis, Pectus excavatum, Spinal rigidity, Abnormally straight spine, Abnorma...	ORPHA:800
Simpson-Golabi-Behmel Syndrome	Vertebral segmentation defect, Short toe, Pectus excavatum, Short 2nd finger, Short neck, Scolios...	ORPHA:373
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Pectus excavatum, Scoliosis, Hemiatrophy, Abnormal rib morphology	ORPHA:2215
Hurler Syndrome	Spinal canal stenosis, Abnormal clavicle morphology, Short neck, Scoliosis, Abnormal rib morpholo...	ORPHA:93473
Osteogenesis Imperfecta	Narrow chest, Kyphosis, Pectus excavatum, Thin ribs, Multiple rib fractures, Micrognathia, Enlarg...	ORPHA:666
Monosomy 9Q22.3	Kyphosis, Pectus excavatum, Abnormality of the vertebral column, Short neck, Abnormal rib morphol...	ORPHA:77301
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Irregular vertebral endplates, Kyphosis, Narrow chest, Pectus excavatum, Scoliosis, Abnormal form...	ORPHA:3042
Aspergillosis	Abnormal rib morphology, Abnormality of the vertebral column	ORPHA:1163
Autosomal Dominant Popliteal Pterygium Syndrome	Abnormal rib morphology, Micrognathia, Scoliosis	ORPHA:1300
Phocomelia, Schinzel Type	Aplasia of the ulna, Hand oligodactyly, Hypoplasia of the radius, Micrognathia, Short neck, Micro...	ORPHA:2879
Oculocerebrocutaneous Syndrome	Abnormal rib morphology, Short distal phalanx of finger, Missing ribs, Aplasia/Hypoplasia of the ...	ORPHA:1647
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Ulbright-Hodes Syndrome	Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasi...	ORPHA:3404
Linear Nevus Sebaceus Syndrome	Vertebral segmentation defect	ORPHA:2612
Trisomy 1Q	Abnormal rib morphology, Microretrognathia, Short thorax	ORPHA:261344
Opitz Gbbb Syndrome	Vertebral segmentation defect, Micrognathia, Umbilical hernia	ORPHA:2745
Codas Syndrome	Short humerus, Scoliosis, Lumbar scoliosis, Coronal cleft vertebrae, Hypoplasia of the odontoid p...	OMIM:600373
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vertebral segmentation defect, Scoliosis, Branchial anomaly	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vertebral segmentation defect, Scoliosis, Branchial anomaly	ORPHA:352665
Vater/Vacterl Association	Abnormal sternum morphology, Hypoplasia of the radius, Scoliosis, Short thumb, Abnormal rib morph...	OMIM:192350
Myhre Syndrome	Short toe, Platyspondyly, Enlarged vertebral pedicles, Short neck, Broad ribs, Vertebral fusion, ...	OMIM:139210
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal lumbar spine morphology, Scoliosis, Abnormal rib morpholog...	ORPHA:249
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morp...	ORPHA:581
Myhre Syndrome	Abnormal rib morphology, Short palm, Platyspondyly	ORPHA:2588
Simpson-Golabi-Behmel Syndrome, Type 1	Vertebral segmentation defect, Short distal phalanx of finger, Pectus excavatum, Short sternum, S...	OMIM:312870
Antley-Bixler Syndrome	Narrow chest, Abnormal rib morphology	ORPHA:83
Trisomy 18	Abnormal rib morphology, Spina bifida, Anencephaly, Microretrognathia	ORPHA:3380
Smith-Lemli-Opitz Syndrome	Kyphosis, Micrognathia, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abnormal ri...	ORPHA:818
Monosomy 9P	Micrognathia, Abnormality of the vertebral column, Short neck, Scoliosis, Abnormal rib morphology	ORPHA:261112
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Narrow chest, Shortening of all distal phalanges of the fingers, Scoliosis, Abnormal rib morpholo...	ORPHA:95699
Williams Syndrome	Vertebral segmentation defect, Kyphosis, Pectus excavatum, Micrognathia, Down-sloping shoulders, ...	ORPHA:904
Fraser Syndrome	Myelomeningocele, Encephalocele, Vertebral segmentation defect, Umbilical hernia	ORPHA:2052
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Meningocele, Encephalocele, Spina bifida	ORPHA:991
Oculocerebrorenal Syndrome Of Lowe	Kyphosis, Micrognathia, Platyspondyly, Scoliosis, Abnormal rib morphology, Umbilical hernia	ORPHA:534
Ear-Patella-Short Stature Syndrome	Micrognathia, Aplastic clavicle, Abnormal rib morphology, Patellar aplasia, Mandibular aplasia	ORPHA:2554
Dextrocardia	Abnormal rib morphology	ORPHA:1666
Hereditary Acrokeratotic Poikiloderma	Abnormal rib morphology	ORPHA:2907
Townes-Brocks Syndrome	Abnormal vertebral morphology, Aplasia/Hypoplasia of the 3rd toe, Absent toe, Abnormal rib morpho...	ORPHA:857
Kindler Epidermolysis Bullosa	Abnormal rib morphology, Short 5th metacarpal, Short 4th metacarpal	ORPHA:2908
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal rib morphology	ORPHA:667
Dowling-Degos Disease		ORPHA:79145
Dowling-Degos Disease 2		OMIM:615327

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 Pofut1

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 Pofut1.

No publications found that use IMPC mice or data for Pofut1.

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MGI Allele	Allele Type	Produced
Pofut1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pofut1^{tm35374(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pofut1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pofut1^{tm35374(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pofut1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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