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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 (426 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	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi...	OMIM:609813
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Spinal Dysplasia, Anhalt Type	Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar vertebrae, Narrow ...	OMIM:601344
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Spondylometaphyseal Dysplasia, Corner Fracture Type	Ovoid vertebral bodies, Hypoplasia of the odontoid process, Pectus carinatum, Hyperconvex vertebr...	OMIM:184255
Odontoid Hypoplasia	Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o...	OMIM:613628
Poland Syndrome	Unilateral oligodactyly, Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly	OMIM:173800
Dwarfism With Tall Vertebrae	Increased vertebral height	OMIM:126950
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc...	OMIM:613686
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scolios...	ORPHA:64755
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Narrow chest	OMIM:617661
Gurrieri Syndrome	Decreased anterioposterior diameter of lumbar vertebral bodies	OMIM:601187
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Dysostosis Multiplex, Ain-Naz Type	Glenoid fossa hypoplasia, Hemivertebrae, Scoliosis	OMIM:619345
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:93302
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck	ORPHA:2234
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Sprengel ...	ORPHA:40
Lethal Kniest-Like Dysplasia	Anterior rib cupping, Short neck, Mesomelic/rhizomelic limb shortening, Hypoplastic vertebral bod...	ORPHA:2347
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh...	ORPHA:2311
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Micromelia, Short neck, Bell-shaped thorax, Platyspondyly, Short ribs, Scol...	OMIM:602557
Holoprosencephaly, Semilobar, With Craniosynostosis	Hypoplastic vertebral bodies, Short distal phalanx of finger	OMIM:601370
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Micromelia, Kyphosis, Abnormal rib morphology, Abnormal ...	ORPHA:2635
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Dysosteosclerosis	Sclerotic scapulae, Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypopla...	OMIM:224300
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ...	ORPHA:168549
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge...	ORPHA:2180
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ...	OMIM:215140
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces...	OMIM:258480
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis	ORPHA:93304
Richieri Costa-Da Silva Syndrome	Kyphoscoliosis, Short neck, Vertebral wedging, Pectus carinatum, Decreased anterioposterior diame...	ORPHA:3101
Braddock Syndrome	Short neck, Pectus excavatum, Missing ribs, Micrognathia, Hemivertebrae, Scoliosis	ORPHA:52047
Diastrophic Dysplasia	Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcification, Scoliosi...	OMIM:222600
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Aplasia/Hypoplasia of the distal p...	OMIM:113000
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Verte...	ORPHA:1988
Gm1-Gangliosidosis, Type I	Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr...	OMIM:230500
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs	ORPHA:2759
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Aplasia/Hypoplasia of the radius,...	ORPHA:1570
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic hemivertebrae	ORPHA:1445
Caudal Regression Syndrome	Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnormal...	ORPHA:3027
Gm1-Gangliosidosis, Type Ii	Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thoracolumbar kyphosis,...	OMIM:230600
Dysosteosclerosis	Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly	ORPHA:1782
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Short neck, Micrognat...	ORPHA:958
Opsismodysplasia	Pectus excavatum, Hypoplastic vertebral bodies, Abnormally ossified vertebrae, Narrow chest	ORPHA:2746
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Micrognathia, Pectus excavatum, Hypoplasia of the radius, Hemivertebrae, ...	OMIM:212780
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormal rib morphology, Scoliosis, Pectus carinatum	ORPHA:3268
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Infantile Liver Failure Syndrome 3	Hypoplastic vertebral bodies, Beaking of vertebral bodies, Platyspondyly	OMIM:618641
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Short hallux, Scoli...	OMIM:135100
Verheij Syndrome	Branchial cyst, Vertebral fusion, Short neck, Hemivertebrae, Short 5th finger, Scoliosis	OMIM:615583
Kyphomelic Dysplasia	Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, Micrognathia, Short thorax...	ORPHA:1801
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Pectus carinatum, Irregular vertebral endplates, Platyspondyly, Thoracic ky...	OMIM:609223
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:1354
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Narrow chest, Vertebral hypoplasia, Encephalocele, Sh...	OMIM:108720
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Hemivertebrae	OMIM:619318
Gorlin Syndrome	Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis	ORPHA:377
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Abnormality of the costochondral junction, Atlantoaxial instability, Punctate ...	ORPHA:79345
Schneckenbecken Dysplasia	Hypoplastic scapulae, Micromelia, Short neck, Lateral clavicle hook, Abnormal form of the vertebr...	ORPHA:3144
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Limb undergrowth,...	ORPHA:93352
Kuskokwim Syndrome	Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b...	ORPHA:1149
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:2790
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos...	OMIM:109400
Fibrochondrogenesis 1	Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Rhizomelia, Short neck, Thin clavicle...	OMIM:228520
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Small cervical vertebral bodies, Long clavicles, Micrognathia, Rhizomeli...	ORPHA:397715
Gm1 Gangliosidosis Type 1	Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebr...	ORPHA:79255
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral...	OMIM:271630
Ritscher-Schinzel Syndrome 1	Micrognathia, Hemivertebrae, Missing ribs	OMIM:220210
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ...	ORPHA:2345
Trigonocephaly 1	Lumbar hemivertebrae	OMIM:190440
Holoprosencephaly-Craniosynostosis Syndrome	Hypoplastic vertebral bodies, Short distal phalanx of finger	ORPHA:2163
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short lower limbs, Ovoid verte...	ORPHA:93315
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid...	OMIM:184100
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thoracolumbar vertebrae, H...	OMIM:252940
Diastrophic Dysplasia	Abnormal clavicle morphology, Micromelia, Micrognathia, Kyphosis, Abnormal rib morphology, Abnorm...	ORPHA:628
Proximal 16P11.2 Microduplication Syndrome	Hemivertebrae, Scoliosis	ORPHA:370079
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Flared, irregular rib ends, Micromelia, Short palm	ORPHA:168555
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Barrel-shaped chest, Vertebral fusion, Short neck, Hemivertebrae, Pectus carinatum, Scoliosis, Sp...	OMIM:178110
Osteoarthritis With Mild Chondrodysplasia	Beaking of vertebral bodies, Irregular vertebral endplates, Platyspondyly, Schmorl's node	OMIM:604864
Pontine Tegmental Cap Dysplasia	Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Acrocapitofemoral Dysplasia	Ovoid vertebral bodies, Micromelia, Hyperlordosis, Pectus excavatum, Short thorax, Pectus carinat...	ORPHA:63446
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology	ORPHA:77298
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Anterior rib punctate calcif...	ORPHA:1426
Bresek Syndrome	Hemivertebrae, Scoliosis	ORPHA:85284
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Missing ribs, ...	ORPHA:2911
Congenital Amegakaryocytic Thrombocytopenia	Scoliosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3319
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Spinal canal stenosis, Hypoplastic vertebral bodies, Scoliosi...	OMIM:101800
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathia, Rib fusion, Posterior r...	OMIM:611209
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Myelomeningocele, Anencep...	OMIM:182940
3C Syndrome	Short neck, Missing ribs, Kyphosis, Micrognathia, Hemivertebrae, Scoliosis	ORPHA:7
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Micrognathia, Kyphosis, Hemivertebrae, ...	ORPHA:2062
Dysspondyloenchondromatosis	Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospondyly	ORPHA:85198
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect	OMIM:618845
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Platyspondyly, ...	ORPHA:85172
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, Hypoplasia of the...	OMIM:156530
Robin Sequence-Oligodactyly Syndrome	Hand oligodactyly, Abnormal form of the vertebral bodies, Micrognathia	ORPHA:3104
Al Kaissi Syndrome	Sacral dimple, Hemivertebrae, Small hand	OMIM:617694
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Kyphoscoliosis, Short neck, Abnormal thorax morphology, Hemivertebrae, Punctate verte...	OMIM:302960
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Pectus excavatum, Umbilical hernia, Hemivertebrae, Scoliosis	OMIM:104350
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Vertebral fusion, Th...	OMIM:268310
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra...	OMIM:206900
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Micrognathia, Hypopla...	OMIM:200980
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies	OMIM:272200
Caudal Duplication	Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Vertebral segmentation ...	ORPHA:1756
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Lumbar scoliosis, Hypoplastic cervical vertebrae, Scoliosis	OMIM:620269
Thoracolaryngopelvic Dysplasia	Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,...	OMIM:187760
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junc...	OMIM:271650
Intellectual Developmental Disorder, Autosomal Dominant 1	Micrognathia, Clavicular pseudarthrosis, Short thorax, Hemivertebrae, Short foot, Short middle ph...	OMIM:156200
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ...	OMIM:259440
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Vertebral clefting, Hemivertebrae, Short femoral neck, Pectus carinatum	OMIM:614701
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Short neck, Missing ribs	OMIM:619859
Aicardi Syndrome	Block vertebrae, Spina bifida, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Bifid...	OMIM:304050
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Thoracic hemivertebrae, Scoliosis	OMIM:619721
Mosaic Trisomy 9	Spina bifida, Short neck, Micrognathia, Micromelia, Hemivertebrae, Supernumerary ribs, Scoliosis	ORPHA:99776
Autosomal Recessive Multiple Pterygium Syndrome	Micrognathia, Pectus excavatum, Rib fusion, Abnormal sternum morphology, Vertebral segmentation d...	ORPHA:2990
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Short neck, Pectus excavatum, Micro...	OMIM:213980
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger	OMIM:155050
Vacterl With Hydrocephalus	Absence of the sacrum, Spina bifida, Micrognathia, Hypoplasia of the radius, Hemivertebrae, Abnor...	ORPHA:3412
Proximal 16P11.2 Microdeletion Syndrome	Rib fusion, Abnormal vertebral morphology, Scoliosis, Micrognathia	ORPHA:261197
Meier-Gorlin Syndrome 1	Short palm, Absent sternal ossification, Micrognathia, Lateral clavicle hook, Aplasia/Hypoplasia ...	OMIM:224690
Myotonia With Skeletal Abnormalities And Mental Retardation	Bell-shaped thorax, Vertebral wedging, Kyphoscoliosis, Pectus carinatum	OMIM:255710
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Foot oligodac...	OMIM:276820
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae	ORPHA:2064
Camptodactyly Syndrome, Guadalajara Type 2	Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Patellar hypoplasia, Short 2nd t...	ORPHA:1326
Multiple Pterygium Syndrome, Escobar Variant	Long clavicles, Down-sloping shoulders, Thoracolumbar scoliosis, Short neck, Micrognathia, Kyphos...	OMIM:265000
Pseudotrisomy 13 Syndrome	Encephalocele, 11 pairs of ribs, Hemivertebrae	OMIM:264480
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Micrognathia, Absent middl...	OMIM:308050
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Vertebral segmentation defect, Mesomelia	ORPHA:2631
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Missing r...	OMIM:134780
Mesomelic Dysplasia, Kantaputra Type	Vertebral segmentation defect, Abnormal rib morphology, Mesomelia	ORPHA:1836
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis	OMIM:612913
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Rhizomelia, Short neck, Micrognathia, Abnormal rib morphology, Plat...	ORPHA:93267
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Absent frontal sinuses, Kyphosis, Hemivertebrae, Scoliosis, Umbilical hernia	OMIM:301040
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Short neck, Micrognathia, Hypoplasia of the odontoid process, P...	OMIM:264180
Osteogenesis Imperfecta, Type Xix	Rhizomelia, Pectus excavatum, Vertebral wedging, Pectus carinatum, Scoliosis, Biconcave vertebral...	OMIM:301014
Kbg Syndrome	Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosi...	OMIM:148050
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Micrognathia...	ORPHA:2522
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Small hand, Supernumerary ribs, Scoliosis, Bifid ribs,...	ORPHA:50
Robinow Syndrome	Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Micrognathia, Rib fusion, Hemivertebrae, ...	ORPHA:97360
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Increased intervertebral space, Thoracic platyspondyly, Short ribs, Narrow chest, Limb undergrowt...	OMIM:618961
Hypochondroplasia	Micromelia, Hyperlordosis, Short toe, Spinal canal stenosis, Abnormal form of the vertebral bodie...	ORPHA:429
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv...	ORPHA:573278
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck	ORPHA:1780
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Micrognathia, Hemivertebrae, Narrow chest, Short tibia, Abnormality of the costochond...	ORPHA:96334
Atelosteogenesis Type Ii	Short metacarpal, Short femur, Rhizomelia, Thoracolumbar kyphoscoliosis, Cervical kyphosis, Short...	ORPHA:56304
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Sprengel anomaly	OMIM:618223
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele	ORPHA:280195
Isolated Posterior Meningocele	Thoracic hemivertebrae, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Achondrogenesis Type 1B	Micromelia, Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Narrow c...	ORPHA:93298
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microretrognathia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Sp...	ORPHA:508498
Fibrochondrogenesis 2	Micrognathia, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia	OMIM:614524
Hatipoglu Immunodeficiency Syndrome	Hemivertebrae	OMIM:620331
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Platys...	OMIM:184250
Cog1-Cdg	Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathia, Rib fusio...	ORPHA:263508
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Cupped ribs, Mesomelic arm shortening, Short foot, Irregular vertebral endp...	OMIM:609616
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2370
Ghosal Hematodiaphyseal Dysplasia	Abnormal form of the vertebral bodies	ORPHA:1802
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Pectus excavatum, Lumbar hemivertebrae, Thin ribs	ORPHA:2463
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Micrognathia	ORPHA:2617
Autosomal Recessive Robinow Syndrome	Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Micrognathia, Rib fusion, Pectus carinatum...	ORPHA:1507
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Short neck, Hypoplasia of the odonto...	OMIM:607326
Cloacal Exstrophy	Myelomeningocele, Hemivertebrae, Absent foot, Spina bifida	ORPHA:93929
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal rib morphology, Short metatarsal, Upper limb undergrowth, ...	ORPHA:93351
Atelosteogenesis Type Iii	Absent humerus, Abnormal cervical curvature, Micrognathia, Absent radius, Coronal cleft vertebrae...	ORPHA:56305
Lenz-Majewski Hyperostotic Dwarfism	Micrognathia, Broad clavicles, Hemivertebrae, Broad ribs, Spina bifida occulta	OMIM:151050
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ...	OMIM:269250
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Pallister-Hall Syndrome	Rib fusion, Hemivertebrae, Mesomelia, Short 4th metacarpal, Distal shortening of limbs	OMIM:146510
Autosomal Dominant Robinow Syndrome	Sacral dimple, Micromelia, Short neck, Pectus excavatum, Micrognathia, Hemivertebrae, Abnormal fo...	ORPHA:3107
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Umbilical hernia	ORPHA:3218
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Sacral dimple, Short hallux, Micrognathia, Kyphosis, Abnormal tho...	ORPHA:280
Mucolipidosis Type Iii	Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:577
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Shor...	OMIM:618395
Diamond-Blackfan Anemia 1	11 pairs of ribs, Short neck, Micrognathia, Short thumb, Absent thumb, Hypoplasia of the radius, ...	OMIM:105650
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:613982
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida, Short thumb, Abnormal rib morphology, Vertebral segmentation defect, Short distal p...	ORPHA:1120
Kabuki Syndrome	Vertebral clefting, Hemivertebrae, Small hand, Abnormal form of the vertebral bodies, Short middl...	ORPHA:2322
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Pectus carinatum, Abnormal rib ca...	OMIM:184252
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Myelomeningocele, Sacral segmentation defect, Hemivertebrae	OMIM:258040
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Missing ribs, S...	OMIM:608022
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Asymmetry of the thorax, Hemivertebrae	ORPHA:1112
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Shor...	OMIM:608940
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck	ORPHA:1486
Incontinentia Pigmenti	Hemivertebrae, Supernumerary ribs, Kyphoscoliosis	OMIM:308300
White Forelock With Malformations	Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology	ORPHA:2475
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ...	OMIM:183900
Sheldon-Hall Syndrome	Micrognathia, Short neck, Vertebral segmentation defect, Aplasia/Hypoplasia of the radius, Scoliosis	ORPHA:1147
Tibial Hemimelia	Absent radius, Absent tibia, Myelomeningocele, Hemivertebrae, Aplasia of the 2nd metacarpal, Apla...	ORPHA:93322
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Anterior rib punct...	ORPHA:35173
Camptodactyly Syndrome, Guadalajara Type 1	Scapular winging, Sacral dimple, Spina bifida, Pectus excavatum, Short toe, Abnormal form of the ...	ORPHA:1327
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vertebral segmentation defect, Micrognathia	ORPHA:1166
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
7Q11.23 Microduplication Syndrome	Sacral dimple, Micrognathia, Pectus excavatum, Short neck, Hemivertebrae	ORPHA:96121
Dyggve-Melchior-Clausen Disease	Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Lumbar hyperlordosis, Flaring of low...	OMIM:223800
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Lumbar hyper...	ORPHA:2839
Larsen Syndrome	Vertebral fusion, Short metacarpal, Cervical kyphosis, Pectus excavatum, Short metatarsal, Pectus...	OMIM:150250
Anophthalmia Plus Syndrome	Vertebral segmentation defect, Spina bifida	ORPHA:1104
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Mosaic Trisomy 14	Micrognathia, Abnormal rib morphology, Narrow chest, Short neck	ORPHA:1703
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Micromelia, Short neck, Severe li...	OMIM:151210
Bruck Syndrome 1	Kyphosis, Vertebral wedging, Pectus carinatum, Platyspondyly, Scoliosis	OMIM:259450
Zttk Syndrome	Kyphosis, Rib fusion, Hemivertebrae, Small hand, Short foot, Cervical ribs, Scoliosis	OMIM:617140
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Absent frontal sinuses, Micrognathia, Sho...	ORPHA:955
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies	ORPHA:1837
Pseudoachondroplasia	Lumbar hyperlordosis, Shortening of all metacarpals, Hypoplasia of the odontoid process, Abnormal...	ORPHA:750
Axial Mesodermal Dysplasia Spectrum	Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral b...	ORPHA:1834
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Rib fusion	ORPHA:544488
Atelosteogenesis, Type Iii	Cervical segmentation defect, Rhizomelia, Cervical kyphosis, Short neck, Micrognathia, Horizontal...	OMIM:108721
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Pectus excavatum, Kyphosis, A...	ORPHA:392
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral bod...	ORPHA:52
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Thin ribs, Platyspondyly, Hypoplasia of the calcaneus, Distal short...	OMIM:300863
Jeune Syndrome	Abnormal clavicle morphology, Micromelia, Short thorax, Abnormal rib morphology, Short foot, Abno...	ORPHA:474
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Short neck, Abnormal rib morphology, Abnormal form of the verte...	ORPHA:2021
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Short thorax, Small hand, Abnormal form of the verte...	ORPHA:1597
Phaver Syndrome	Short thumb, Myelomeningocele, Abnormal rib morphology, Abnormal form of the vertebral bodies, Bu...	ORPHA:2876
Mucopolysaccharidosis, Type X	Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ...	OMIM:619698
Geroderma Osteodysplastica	Vertebral compression fracture, Abnormal form of the vertebral bodies, Pectus carinatum, Platyspo...	ORPHA:2078
Prune Belly Syndrome	Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis	ORPHA:2970
Spondyloepiphyseal Dysplasia Tarda	Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscolios...	ORPHA:93284
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Rhizomelia, Micrognathia, Abnormal form of the vertebral bodies, Sc...	ORPHA:2645
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Abnormal form of the vertebral...	ORPHA:263463
Diabetic Embryopathy	Abnormal sacrum morphology, Vertebral segmentation defect, Micrognathia, Spinal dysraphism	ORPHA:1926
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Anence...	ORPHA:63259
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Abnormal form of the vertebral bodies	ORPHA:2831
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis	OMIM:252900
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Vertebral segmentation defect, Micrognathia, Scoliosis, Hyperlordosis	ORPHA:1323
Osteogenesis Imperfecta, Type Xviii	Micrognathia, Thin ribs, Biconcave vertebral bodies, Umbilical hernia, Vertebral compression frac...	OMIM:617952
Achondrogenesis, Type Ia	Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Beaded ribs, Short nec...	OMIM:200600
Juberg-Hayward Syndrome	Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Scoliosis, Abnormal vertebral mor...	ORPHA:2319
Multiple Epiphyseal Dysplasia Type 4	Short metacarpal, Rhizomelia, Cervical kyphosis, Micrognathia, Short thumb, Short toe, Short meta...	ORPHA:93307
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Hypoplastic scapulae, A...	OMIM:114290
Alagille Syndrome 1	Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d...	OMIM:118450
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Micrognathia, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Short dist...	ORPHA:3098
Acrofacial Dysostosis, Palagonia Type	Micrognathia, Short neck, Small hand, Abnormal form of the vertebral bodies, Scoliosis, Spina bif...	ORPHA:1787
Baller-Gerold Syndrome	Hypoplasia of the ulna, Short humerus, Absent thumb, Absent radius, Micrognathia, Hypoplasia of t...	OMIM:218600
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Micrognathia, Short neck, Kyphosis, Aplasia/Hypoplasia of toe, Abnormal rib morphology, Aplasia/H...	ORPHA:3082
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Vertebral segmentation defect	ORPHA:3004
Smith-Mccort Dysplasia 2	Barrel-shaped chest, Short metacarpal, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:615222
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Rhizomelia, Short neck, Horizontal inferior border of scapula, Hypoplas...	ORPHA:239
Mucopolysaccharidosis, Type Ivb	Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye...	OMIM:253010
Wiedemann-Rautenstrauch Syndrome	Short humerus, Short femur, Irregular sclerotic endplates, Kyphoscoliosis, Hypoplastic vertebral ...	ORPHA:3455
Cooper-Jabs Syndrome	Umbilical hernia, Abnormal rib morphology, Scoliosis, Missing ribs	ORPHA:1488
Trisomy 10P	Short toe, Hemivertebrae, Micrognathia	ORPHA:171929
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis...	ORPHA:582
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Thin ribs, ...	OMIM:300232
Holoprosencephaly 13, X-Linked	Thoracic hemivertebrae, Vertebral clefting, Butterfly vertebrae, Micrognathia	OMIM:301043
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Multiple rib fractures, Rhizomelia, Beaded ribs, Platyspondyly, Narrow chest, ...	OMIM:616229
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Short hallux, Micrognathia, Kyph...	OMIM:194190
Pseudoachondroplasia	Short metacarpal, Lumbar hyperlordosis, Spatulate ribs, Hypoplasia of the odontoid process, Kypho...	OMIM:177170
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ...	ORPHA:1788
Fountain Syndrome	Spina bifida, Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina...	ORPHA:3219
Craniodiaphyseal Dysplasia	Abnormal rib morphology	ORPHA:1513
Deeah Syndrome	Cervical hemivertebrae, C1-C2 subluxation, Scoliosis, Short neck	OMIM:619004
Melnick-Needles Syndrome	Micrognathia, Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles, Scoliosis, An...	ORPHA:2484
Grant Syndrome	Micrognathia, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of the glenoid...	ORPHA:2097
Vacterl/Vater Association	Occipital encephalocele, Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Abn...	ORPHA:887
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia	OMIM:601076
Doors Syndrome	11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Hemivertebrae, Sirenomelia,...	ORPHA:79500
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Anencephaly, Abnormal form of the vertebral bodies	ORPHA:1590
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Pectus carinatum, Narrow chest, Short palm, Short ti...	OMIM:607778
Cole-Carpenter Syndrome	Micrognathia, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:2050
Diphallia	Hemivertebrae, Butterfly vertebrae, Scoliosis, Absent thumb	ORPHA:227
Kniest Dysplasia	Short neck, Hypoplasia of the odontoid process, Aplasia/hypoplasia of the extremities, Short thor...	ORPHA:485
Sialidosis Type 1	Kyphosis, Short thorax, Abnormal form of the vertebral bodies, Pectus carinatum, Scoliosis	ORPHA:812
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Micromelia, Micrognathia, Th...	OMIM:613848
Saul-Wilson Syndrome	Short metacarpal, Micrognathia, Pectus excavatum, Hypoplasia of the odontoid process, Short metat...	OMIM:618150
Weismann-Netter Syndrome	Kyphosis, Aplasia/Hypoplasia of the radius, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Mosaic Trisomy 8	Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Vertebral segmentation defec...	ORPHA:96061
Lateral Meningocele Syndrome	Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Meningocele, Micrognathia, Abnormal form o...	ORPHA:2789
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Lower limb undergrowth, Micrognathia	ORPHA:3035
White-Sutton Syndrome	Micrognathia, Hypoplastic cervical vertebrae, Short neck	OMIM:616364
Trisomy 20P	Spina bifida, Short neck, Micrognathia, Kyphosis, Abnormal form of the vertebral bodies, Vertebra...	ORPHA:261318
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus excavatum, Hypop...	OMIM:253220
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce...	ORPHA:1724
Leri Pleonosteosis	Scoliosis, Abnormally straight spine, Abnormal form of the vertebral bodies	ORPHA:2900
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Scapular winging, Short metacarpal, Block vertebrae, Short neck, Hyperlordosis,...	OMIM:272460
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Absent thumb, Rib fusion, Hemivertebrae, Cervical ribs	ORPHA:500150
9Q21.13 Microdeletion Syndrome	Vertebral segmentation defect, Scoliosis	ORPHA:531151
Charge Syndrome	Abnormal rib morphology, Hemivertebrae, Scoliosis	ORPHA:138
1P36 Deletion Syndrome	11 pairs of ribs, Kyphosis, Rib fusion, Spinal canal stenosis, Short foot, Scoliosis, Bifid ribs	ORPHA:1606
Cardiospondylocarpofacial Syndrome	Rib fusion, Short foot, Fused cervical vertebrae, Herniation of intervertebral nuclei, Scoliosis	OMIM:157800
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hypoplastic coccygeal vertebrae, Micrognathia	OMIM:619512
Solitary Bone Cyst	Back pain, Abnormal form of the vertebral bodies	ORPHA:83468
Peters-Plus Syndrome	Short metacarpal, Rhizomelia, Short neck, Pectus excavatum, Micrognathia, Short toe, Hemivertebra...	OMIM:261540
Mycetoma	Back pain, Abnormal thorax morphology, Vertebral compression fracture, Abnormal form of the verte...	ORPHA:2583
Cardiospondylocarpofacial Syndrome	Abnormal form of the vertebral bodies, Short palm	ORPHA:3238
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Absent ...	OMIM:214800
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Micromelia, Short thumb, Hypoplasia of the radius, Abnormal rib morpholog...	ORPHA:3258
Cartilage-Hair Hypoplasia	Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoid process, Asymmetry of...	OMIM:250250
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Short...	ORPHA:73230
Craniofacial Microsomia 1	Occipital encephalocele, Block vertebrae, Micrognathia, Hemivertebrae, Branchial anomaly, Cervica...	OMIM:164210
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Rhizomelia, Flaring of l...	ORPHA:175
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal sacrum morphology, Abnormal form of the vertebral bodies	ORPHA:93262
Scarf Syndrome	Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short sternum, Umbilical hernia	ORPHA:3134
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Short middle phalanx of finger, Scoliosis	ORPHA:1005
Radio-Renal Syndrome	Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormal...	ORPHA:3015
Verloove Vanhorick-Brubakk Syndrome	Limb undergrowth, Abnormal form of the vertebral bodies, Micrognathia	ORPHA:3429
Koolen-De Vries Syndrome	Vertebral fusion, Pectus excavatum, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:96169
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Barrel-shaped chest, Shortening of all middle phalanges of the fingers, Hyperlordosis, Hypoplasia...	OMIM:226980
Codas Syndrome	Coronal cleft vertebrae, Short metacarpal, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:1458
Chromosome 1Q41-Q42 Deletion Syndrome	Pectus excavatum, Vertebral segmentation defect, Scoliosis	OMIM:612530
Acrocraniofacial Dysostosis	Micrognathia, Pectus excavatum, Abnormal form of the vertebral bodies, Spina bifida occulta, Shor...	ORPHA:949
Pallister-Hall Syndrome	Microretrognathia, Rib fusion, Hemivertebrae, Umbilical hernia, Short 4th metacarpal	ORPHA:672
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Hypoplasia of the ulna, Short humerus, Short hallux, Pectus excavat...	OMIM:186500
Bent Bone Dysplasia Syndrome 2	Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Short t...	OMIM:620076
Fetal Alcohol Syndrome	Vertebral segmentation defect, Micrognathia	ORPHA:1915
Jung Syndrome	Abnormal form of the vertebral bodies	ORPHA:2321
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hyperlordosis, Abnormal rib morphology, Pectus carinatum	ORPHA:3068
Scarf Syndrome	Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short s...	OMIM:312830
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Micrognathia, Abnormal sacrum morphology, Abnormal ...	ORPHA:1452
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short palm, Short metacarpal, Anterior rib cupping, Micromelia, Short neck, Pectus excavatum, Hyp...	OMIM:271665
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ...	OMIM:253200
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Rib fusion, Short foot, Short 5th finger, Scoliosis, Bifid ribs	OMIM:607872
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra...	ORPHA:2769
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Abnormal rib morphology, Rhizomelic arm shortening...	ORPHA:93317
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Short femur, Anterior rib cupping, Micromelia, Micrognathia, Lat...	OMIM:211350
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Sacral Defect With Anterior Meningocele	Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Dermal...	OMIM:600145
Faundes-Banka Syndrome	Lumbar hemivertebrae, Micrognathia	OMIM:619376
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Micromelia, Short toe, Hypoplasia of the radius, Short ...	ORPHA:950
Larsen Syndrome	Vertebral segmentation defect, Abnormality of the cervical spine, Scoliosis, Short distal phalanx...	ORPHA:503
Craniosynostosis, Herrmann-Opitz Type	Abnormal rib morphology, Micromelia, Micrognathia	ORPHA:2145
Aarskog-Scott Syndrome	Short neck, Pectus excavatum, Hypoplasia of the odontoid process, Cervical spine hypermobility, S...	OMIM:305400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Posterior rib fusion, Butterfly vertebrae, Micrognathia	OMIM:265380
Campomelia, Cumming Type	Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology, Micromelia	ORPHA:1318
Trisomy 13	Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis	ORPHA:3378
Otopalatodigital Syndrome Type 2	Encephalocele, Short hallux, Micrognathia, Short thumb, Myelomeningocele, Hypoplastic frontal sin...	ORPHA:90652
Gapo Syndrome	Abnormal clavicle morphology, Micrognathia, Abnormal thorax morphology, Abnormal form of the vert...	ORPHA:2067
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Tetraamelia	ORPHA:3301
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Micromelia	ORPHA:2772
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia	ORPHA:3169
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal thorax morphology, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93160
Renpenning Syndrome	Pectus excavatum, Sprengel anomaly, Abnormal rib morphology	ORPHA:3242
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:2167
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral c...	OMIM:610915
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hyperlordosis, Micrognathia, Hypoplasia of the odontoid process, Short thorax, Spinal canal steno...	OMIM:616007
Distal Deletion 6P	Micrognathia, Short foot, Vertebral segmentation defect, Scoliosis, Short palm	ORPHA:96125
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology	ORPHA:2643
Hurler Syndrome	Hypoplasia of the femoral head, Short neck, Hypoplasia of the odontoid process, Kyphosis, Short c...	OMIM:607014
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Short metacarpal, Micrognathia, Increased intervertebral spa...	ORPHA:508533
Joubert Syndrome	Encephalocele, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:475
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Kyphosis, Short foot, Vertebral segmentation defect, Scoliosis, Short palm	ORPHA:251014
Shprintzen-Goldberg Syndrome	Missing ribs, Pectus excavatum, Micrognathia, Abnormal form of the vertebral bodies, Pectus carin...	ORPHA:2462
Mucolipidosis Ii Alpha/Beta	Hypoplastic scapulae, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Micrognathia, Pectus ...	OMIM:252500
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypoplasia of the radius, ...	ORPHA:3186
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hemivertebrae, Scoliosis	OMIM:201750
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, ...	ORPHA:87
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Distal shorten...	ORPHA:488434
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Abnormal scapula morphology, Abnormal thorax morphology, Abno...	ORPHA:464329
Au-Kline Syndrome	Sacral dimple, Thoracolumbar scoliosis, Pectus excavatum, Lipomyelomeningocele, Vertebral segment...	OMIM:616580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Branchial anomaly, Scoliosis, Vertebral segmentation defect	ORPHA:453499
Hypophosphatasia	Abnormal rib morphology, Narrow chest	ORPHA:436
Currarino Syndrome	Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum	ORPHA:1552
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Shoulder flexion contracture, Micromelia, Hyperlordosis, Pectus ex...	ORPHA:800
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs	ORPHA:2519
Multiple Pterygium-Malignant Hyperthermia Syndrome	Pectus excavatum, Kyphosis, Abnormal rib morphology, Hemiatrophy, Scoliosis	ORPHA:2215
Pyknoachondrogenesis	Micromelia, Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ri...	ORPHA:3003
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Short neck, Pectus excavatum, Short toe, Abnormal rib morphology, Short foot, V...	ORPHA:373
Acro-Renal-Ocular Syndrome	Vertebral fusion, Hypoplasia of the ulna, Short humerus, Short hallux, Short thumb, Vertebral seg...	ORPHA:959
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Scolios...	ORPHA:93473
Osteogenesis Imperfecta	Multiple rib fractures, Rhizomelia, Cervical kyphosis, Micromelia, Micrognathia, Pectus excavatum...	ORPHA:666
Monosomy 9Q22.3	Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col...	ORPHA:77301
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates,...	ORPHA:3042
Phocomelia, Schinzel Type	Micromelia, Micrognathia, Short neck, Aplasia of the ulna, Meningocele, Aplasia/Hypoplasia of the...	ORPHA:2879
Aspergillosis	Abnormality of the vertebral column, Abnormal rib morphology	ORPHA:1163
Autosomal Dominant Popliteal Pterygium Syndrome	Abnormal rib morphology, Scoliosis, Micrognathia	ORPHA:1300
Feingold Syndrome	Abnormal form of the vertebral bodies, Micrognathia	ORPHA:1305
Oculocerebrocutaneous Syndrome	Aplasia/Hypoplasia of the distal phalanges of the toes, Abnormal rib morphology, Short distal pha...	ORPHA:1647
Spondyloepimetaphyseal Dysplasia, X-Linked	Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior we...	OMIM:300106
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Absent radius, Hypoplasia of the radiu...	ORPHA:233
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Micrognathia, Hypoplasia of the radius, Abnormal rib...	ORPHA:3404
Marshall-Smith Syndrome	Microretrognathia, Thoracic scoliosis, Large sternal ossification centers, Short mandibular rami,...	OMIM:602535
Linear Nevus Sebaceus Syndrome	Vertebral segmentation defect	ORPHA:2612
Vater/Vacterl Association	Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the radius, Abno...	OMIM:192350
Trisomy 1Q	Microretrognathia, Short thorax, Abnormal rib morphology	ORPHA:261344
Codas Syndrome	Short humerus, Short metacarpal, Hypoplasia of the odontoid process, Coronal cleft vertebrae, Lum...	OMIM:600373
Opitz Gbbb Syndrome	Umbilical hernia, Vertebral segmentation defect, Micrognathia	ORPHA:2745
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Scoliosis, Vertebral segmentation defect	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Scoliosis, Vertebral segmentation defect	ORPHA:352665
Meier-Gorlin Syndrome 7	Vertebral segmentation defect, Scoliosis, Aplasia/Hypoplasia of the patella	OMIM:617063
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi...	ORPHA:249
Myhre Syndrome	Vertebral fusion, Short neck, Short toe, Enlarged vertebral pedicles, Platyspondyly, Short finger...	OMIM:139210
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies, Sco...	ORPHA:581
Myhre Syndrome	Platyspondyly, Abnormal rib morphology, Short palm	ORPHA:2588
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Pectus excavatum, Pectus carinatum, Short foot, Vertebral segmentation defect, Short ...	OMIM:312870
Antley-Bixler Syndrome	Abnormal rib morphology, Narrow chest	ORPHA:83
Monosomy 9P	Micrognathia, Short neck, Abnormal rib morphology, Abnormality of the vertebral column, Scoliosis	ORPHA:261112
Smith-Lemli-Opitz Syndrome	Rhizomelia, Short neck, Micrognathia, Kyphosis, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:818
Trisomy 18	Microretrognathia, Abnormal rib morphology, Anencephaly, Spina bifida	ORPHA:3380
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Short metacarpal, Hypoplastic scapulae, Abnormal rib morphology, Shortening of all distal phalang...	ORPHA:95699
Williams Syndrome	Sacral dimple, Down-sloping shoulders, Hyperlordosis, Pectus excavatum, Kyphosis, Micrognathia, A...	ORPHA:904
Fraser Syndrome	Encephalocele, Umbilical hernia, Myelomeningocele, Vertebral segmentation defect	ORPHA:2052
Oculocerebrorenal Syndrome Of Lowe	Micrognathia, Kyphosis, Abnormal rib morphology, Platyspondyly, Scoliosis, Umbilical hernia	ORPHA:534
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Spina bifida, Meningocele, Abnormal rib morphology	ORPHA:991
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Micrognathia, Patellar aplasia, Abnormal rib morphology, Mandibular aplasia	ORPHA:2554
Dextrocardia	Abnormal rib morphology	ORPHA:1666
Hereditary Acrokeratotic Poikiloderma	Abnormal rib morphology	ORPHA:2907
Kindler Epidermolysis Bullosa	Abnormal rib morphology, Short 5th metacarpal, Short 4th metacarpal	ORPHA:2908
Townes-Brocks Syndrome	Aplasia/Hypoplasia of the 3rd toe, Abnormal rib morphology, Abnormal vertebral morphology, Absent...	ORPHA:857
Autosomal Recessive Malignant Osteopetrosis	Abnormal rib morphology, Narrow chest	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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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