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Gene: Gnai3 MGI:95773

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

G protein subunit alpha i3

Synonyms:

Galphai3

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 Gnai3 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 Gnai3 (2 diseases)
Human diseases predicted to be associated with Gnai3 (456 diseases)

The table below shows human diseases associated to Gnai3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Auriculocondylar Syndrome 1		Ankylosis	OMIM:602483
Auriculocondylar Syndrome			ORPHA:137888

The table below shows human diseases predicted to be associated to Gnai3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Cervical Rib	Cervical ribs	OMIM:117900
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology...	ORPHA:3268
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r...	OMIM:173800
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Diaphanospondylodysostosis	Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ...	ORPHA:66637
Autosomal Dominant Spondylocostal Dysostosis	Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm	ORPHA:168555
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn...	ORPHA:1801
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Becker Nevus Syndrome	Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar...	ORPHA:64755
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Heart Defects-Limb Shortening Syndrome	Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra...	ORPHA:1354
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t...	ORPHA:2790
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp...	ORPHA:93304
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc...	OMIM:613686
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Femoral-Facial Syndrome	Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal...	ORPHA:1988
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus...	OMIM:259440
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:93302
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor...	ORPHA:40
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly	OMIM:214300
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt...	ORPHA:2311
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn...	OMIM:102510
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal...	ORPHA:93351
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect	OMIM:618845
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip...	OMIM:618395
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of...	OMIM:608728
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Ulnar ...	OMIM:602111
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib...	ORPHA:2522
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho...	OMIM:309620
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow...	OMIM:602271
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox...	OMIM:608940
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo...	OMIM:602196
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c...	OMIM:178110
Thoracomelic Dysplasia	Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ...	ORPHA:474
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-shaped thorax, ...	OMIM:255710
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ...	ORPHA:392
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th...	ORPHA:628
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali...	ORPHA:1486
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function	OMIM:267500
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ...	ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Broad femoral neck, Squared iliac bon...	OMIM:611209
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Developmental And Speech Delay Due To Sox5 Deficiency	Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin...	ORPHA:313892
Grant Syndrome	Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Decreased skull ossificatio...	ORPHA:2097
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Abnormality of the elbow, Abnormal rib morphology, Abnormal finger m...	ORPHA:2319
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Clinodactyly, Coxa vara, Pectus carinatum, Reduced bone mineral density, Tibial bowin...	ORPHA:93315
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis	OMIM:618155
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo...	OMIM:619131
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl...	OMIM:171480
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic...	ORPHA:1445
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ...	ORPHA:2475
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo...	ORPHA:3320
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert...	OMIM:244600
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C...	ORPHA:2332
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m...	OMIM:187601
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Delayed skeleta...	ORPHA:582
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ...	OMIM:268310
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of jo...	ORPHA:2990
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy	OMIM:183350
Kbg Syndrome	Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch...	OMIM:148050
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ...	OMIM:269250
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Pectus cari...	OMIM:252605
Hypersulfaturia	Costochondral pain	OMIM:620372
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Decreas...	OMIM:151210
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me...	OMIM:300863
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Thin ribs, Femo...	OMIM:617952
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ...	ORPHA:370010
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity	OMIM:614493
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibu...	OMIM:602557
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante...	OMIM:253000
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Recurrent fractu...	OMIM:616229
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
3M Syndrome	Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly...	ORPHA:2616
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea...	OMIM:151200
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology	ORPHA:261197
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio...	ORPHA:2180
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo...	OMIM:213980
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vertebral hypoplasia...	OMIM:108720
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Melnick-Needles Syndrome	Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ...	ORPHA:2484
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra...	OMIM:206900
Acrocapitofemoral Dysplasia	Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast...	OMIM:607778
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form...	ORPHA:2021
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb...	ORPHA:2759
Mosaic Trisomy 14	Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck	ORPHA:1703
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon...	OMIM:619698
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma...	ORPHA:2916
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal rib morpho...	ORPHA:2050
Achondrogenesis Type 1B	Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, Short foot, ...	ORPHA:93298
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol...	ORPHA:3082
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractur...	OMIM:610915
Aarskog-Scott Syndrome	Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Small ...	ORPHA:915
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ...	ORPHA:3035
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios...	ORPHA:50
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c...	OMIM:612852
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Microcephalic Primordial Dwarfism, Toriello Type	Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,...	OMIM:224300
Wildervanck Syndrome	Fused cervical vertebrae, Short neck	ORPHA:3456
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu...	ORPHA:1488
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,...	ORPHA:263508
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ...	ORPHA:93299
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Beaded ribs, Short neck, Abnormal hand bone ossification,...	OMIM:200600
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ...	ORPHA:436
Autosomal Recessive Robinow Syndrome	Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno...	ORPHA:1507
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ...	ORPHA:3027
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis,...	OMIM:618000
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ...	ORPHA:93324
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Hemivertebrae, Rib fusion, Supernumer...	OMIM:304050
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis	ORPHA:530983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:606612
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr...	ORPHA:1145
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Hemi...	OMIM:109400
Bent Bone Dysplasia Syndrome 2	Osteopenia, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Coro...	OMIM:620076
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl...	ORPHA:3258
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab...	OMIM:616549
Gorlin Syndrome	Vertebral fusion, Arachnodactyly, Hemivertebrae, Vertebral wedging, Scoliosis, Brachydactyly	ORPHA:377
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy...	OMIM:150250
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh...	ORPHA:958
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs	OMIM:609654
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu...	OMIM:244460
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,...	OMIM:211350
Verheij Syndrome	Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, Sco...	OMIM:615583
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac...	ORPHA:2772
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Radial head s...	OMIM:146510
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal...	ORPHA:280
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Short tubular bones of the hand, Coxa valga, Vertebra...	ORPHA:85184
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ...	OMIM:200610
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S...	OMIM:612921
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger	ORPHA:544488
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura...	ORPHA:93317
Osteogenesis Imperfecta, Type X	Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Short femur, Bowing of the ...	OMIM:613848
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Me...	ORPHA:163966
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ...	OMIM:157800
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria	OMIM:252900
Pyknoachondrogenesis	Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac bones, Short thorax, Abnor...	ORPHA:3003
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla...	OMIM:616294
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G...	OMIM:619636
Cleidocranial Dysplasia	Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku...	ORPHA:1452
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:607155
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity	OMIM:607624
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum,...	ORPHA:583
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology...	ORPHA:3068
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A...	ORPHA:1120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Short neck, Beaded ribs, Multi...	OMIM:616897
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi...	OMIM:612447
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera...	ORPHA:2911
Greenberg Dysplasia	Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel...	OMIM:215140
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ...	ORPHA:85167
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis	OMIM:601389
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ...	OMIM:617895
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Accele...	ORPHA:1517
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Bowing of the long bones, Tarsal synostosis, Camptodactyly of fin...	ORPHA:90652
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr...	ORPHA:1724
Frontometaphyseal Dysplasia	Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala...	ORPHA:1826
Antley-Bixler Syndrome	Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, ...	ORPHA:83
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib...	ORPHA:73230
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness	OMIM:252920
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly	ORPHA:2145
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi...	OMIM:271640
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti...	ORPHA:79345
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ...	OMIM:618265
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,...	OMIM:218600
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:240500
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros...	OMIM:269300
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p...	ORPHA:97360
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa...	OMIM:194190
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver...	OMIM:619227
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:241530
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb...	OMIM:252930
Cartilage-Hair Hypoplasia	Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v...	ORPHA:175
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ...	ORPHA:1834
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ...	OMIM:250250
Xylt1-Cdg	Joint dislocation, Joint laxity, Accelerated skeletal maturation, Coxa valga, Flared metaphysis, ...	ORPHA:370930
Renpenning Syndrome	Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty...	ORPHA:3242
Opsismodysplasia	Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i...	OMIM:258480
Zttk Syndrome	Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Small hand, Short foo...	OMIM:617140
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def...	ORPHA:2970
Lymphangiectasia, Intestinal	Prominent floating ribs	OMIM:152800
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre...	OMIM:607594
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcificatio...	OMIM:271665
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib...	ORPHA:1318
Ellis-Van Creveld Syndrome	Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Gen...	OMIM:225500
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Hype...	OMIM:227330
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor...	OMIM:130720
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb...	OMIM:617796
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibi...	ORPHA:96169
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility	OMIM:619122
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Patel...	ORPHA:96061
Shwachman-Diamond Syndrome 1	Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon...	OMIM:260400
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Wide cranial sutures, Crumpled long bones, Recurrent fracture...	OMIM:610682
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne...	OMIM:617159
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P...	OMIM:224690
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split...	OMIM:200980
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr...	OMIM:600920
Radio-Renal Syndrome	Short neck, Abnormality of the elbow, Abnormal rib morphology, Hypoplasia of the radius, Abnormal...	ORPHA:3015
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6...	OMIM:300853
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu...	OMIM:253220
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st...	ORPHA:1606
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int...	ORPHA:508498
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Gm1-Gangliosidosis, Type I	Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B...	OMIM:230500
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Hip disloca...	OMIM:610443
Thrombocytopenia-Absent Radius Syndrome	Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodactyly of ...	OMIM:274000
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea...	ORPHA:1300
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Thin ribs	OMIM:615368
Alagille Syndrome	Hypoplasia of the ulna, Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of th...	ORPHA:52
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Absent thumb, Absent radius, Short...	OMIM:607323
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl...	OMIM:304150
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho...	ORPHA:3378
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse...	ORPHA:289157
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
Myhre Syndrome	Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Hypoplastic iliac wing, Short toe...	OMIM:139210
Apert Syndrome	Syndactyly, Finger syndactyly, Broad distal hallux, Limited elbow movement, Sagittal craniosynost...	OMIM:101200
Acro-Renal-Ocular Syndrome	Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly...	ORPHA:959
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C...	OMIM:208500
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr...	ORPHA:171430
Schwartz-Jampel Syndrome	Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae...	ORPHA:800
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Genu recurvatum, Arachnodactyly, Craniosynostosis, Lateral clavicle hoo...	OMIM:182212
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Femoral bowing, Short long bone,...	OMIM:617022
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Thin ribs	OMIM:614833
Fanconi Anemia, Complementation Group I	Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ...	OMIM:609053
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm...	ORPHA:249
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c...	OMIM:620369
Stuve-Wiedemann Syndrome 1	Enlarged joints, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia...	OMIM:601559
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Sagittal craniosynostosis, Absent thumb, Ri...	ORPHA:500150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Overlapping toe, Pectus excavatum, Flexion contracture, Prominent sternum...	ORPHA:254528
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo...	OMIM:609945
Shashi-Pena Syndrome	Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2...	OMIM:617190
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ...	ORPHA:93473
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing...	ORPHA:2215
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f...	ORPHA:488434
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno...	OMIM:269500
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ...	ORPHA:3301
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Arachnodactyly, Pectus excavatum, Delayed skeletal maturation, Thin metacarpal cortic...	ORPHA:2463
Kagami-Ogata Syndrome	Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Bell-sh...	OMIM:608149
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Pallister-Hall Syndrome	Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Radial head sub...	ORPHA:672
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function	ORPHA:277
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus...	OMIM:607872
Gracile Bone Dysplasia	Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, Brachydactyly	OMIM:602361
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal femur mor...	ORPHA:666
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate r...	OMIM:618188
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m...	ORPHA:95699
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s...	ORPHA:887
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P...	OMIM:114290
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of...	ORPHA:373
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Pectus excavatu...	OMIM:617137
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, ...	OMIM:601812
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s...	OMIM:614008
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Aplasia/Hypop...	OMIM:151050
Aspergillosis	Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste...	ORPHA:1163
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac...	ORPHA:268882
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,...	ORPHA:261344
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad phalanges of the h...	OMIM:277600
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Delayed skeletal maturation, Horizontal ribs	OMIM:614857
Monosomy 9Q22.3	Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnormal rib morphology,...	ORPHA:77301
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stif...	OMIM:252940
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic...	OMIM:617925
Myotubular Myopathy With Abnormal Genital Development	Joint hypermobility, Thin ribs	OMIM:300219
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia...	ORPHA:233
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polydactyly, Flat ace...	OMIM:616300
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wi...	ORPHA:96334
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short neck, Bowing of the legs, Short toe, Short thorax, Short foot, Short ...	OMIM:269860
Myhre Syndrome	Brachydactyly, Joint stiffness, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morpho...	ORPHA:2588
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Pectus ex...	OMIM:613458
Kagami-Ogata Syndrome	Kyphoscoliosis, Short neck, Coxa valga, Limitation of joint mobility, Bell-shaped thorax, Coat ha...	ORPHA:254519
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck	ORPHA:1780
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Posterior rib fusion, Butterfly vertebrae	OMIM:265380
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cervical C5/C6 vertebrae fusi...	ORPHA:87
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Elbow flexi...	OMIM:608328
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joint ...	ORPHA:83617
Osteopathia Striata With Cranial Sclerosis	Arachnodactyly, Tracheomalacia, Delayed closure of the anterior fontanelle, Pectus excavatum, Cra...	OMIM:300373
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal...	OMIM:269150
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys...	OMIM:619727
Roifman Syndrome	Decreased T cell activation, Decreased circulating antibody level	ORPHA:353298
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant...	OMIM:600802
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Ov...	ORPHA:3404
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi...	OMIM:225400
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Joint s...	ORPHA:309282
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Hallermann-Streiff Syndrome	Wormian bones, Hyperlordosis, Pectus excavatum, Metaphyseal widening, Thin ribs, Abnormal rib cag...	OMIM:234100
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal...	ORPHA:2554
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce...	ORPHA:572
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi...	OMIM:192350
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Autosomal Dominant Centronuclear Myopathy	Thin ribs	ORPHA:169189
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morpholo...	ORPHA:667
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function	OMIM:614576
Chops Syndrome	Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly	OMIM:616368
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi...	ORPHA:581
Monosomy 9P	Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact...	ORPHA:261112
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Broad ribs, Broad lon...	OMIM:301066
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Fetal Akinesia Deformation Sequence 1	Hip contracture, Elbow contracture, Camptodactyly of finger, Short neck, Rocker bottom foot, Thin...	OMIM:208150
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph...	ORPHA:35078
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno...	ORPHA:2907
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand polydactyly,...	ORPHA:818
Trisomy 18	Camptodactyly of finger, Delayed skeletal maturation, Postaxial hand polydactyly, Abnormal rib mo...	ORPHA:3380
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Joint stiffness, Pectus excavatum, Decreased fibular diameter, Flexion co...	OMIM:619127
Purine Nucleoside Phosphorylase Deficiency	Abnormality of B cell physiology, Impaired T cell function, Decreased lymphocyte proliferation in...	OMIM:613179
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology	ORPHA:1830
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cer...	ORPHA:444077
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morphology, Hip disloc...	ORPHA:534
Craniorachischisis	Bifid sternum	ORPHA:63260
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Craniosynostosis, Short neck, Pectus excavatum, Postaxial hand polydact...	OMIM:613610
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Sacrococcygeal teratoma, Overlapping fingers, Overlapping toe, Kyph...	ORPHA:798
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation	ORPHA:66628
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Short neck, Short thumb, Thin ribs, Camptodactyl...	OMIM:229850
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Femur fracture, Osteopetrosis	OMIM:612301
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation	ORPHA:179494
Orotic Aciduria	Impaired T cell function	OMIM:258900
Elsahy-Waters Syndrome	Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C...	OMIM:211380
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4...	ORPHA:2908
Hereditary Orotic Aciduria	Impaired T cell function	ORPHA:30
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity	OMIM:242700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc...	OMIM:618213
Alagille Syndrome 1	Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d...	OMIM:118450
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function	OMIM:201100
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture, Limitation o...	ORPHA:217085
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Short long bone, Congenital hip dislocation, Block vertebrae	OMIM:306955
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture, Limitation o...	ORPHA:217093
Coccidioidomycosis	Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality of the vertebral...	ORPHA:228123
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica...	ORPHA:51608
Immunodeficiency 58	Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu...	OMIM:618131
Charge Syndrome	Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Abnormality of bo...	ORPHA:138
Wiskott-Aldrich Syndrome	Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ...	OMIM:301000
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha...	ORPHA:857
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:991
T-Cell Immunodeficiency With Thymic Aplasia	Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen	ORPHA:83471
Craniofacial Microsomia 1	Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, Cervical ribs,...	OMIM:164210
Vici Syndrome	Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ...	OMIM:242840
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Short neck, Hyp...	OMIM:264090
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Radial head subluxati...	OMIM:214800
Osteopetrosis With Renal Tubular Acidosis	Pectus excavatum, Osteopetrosis, Prominent floating ribs, Recurrent fractures	ORPHA:2785
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
22Q11.2 Deletion Syndrome	Impaired T cell function	ORPHA:567
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Digeorge Syndrome	Impaired T cell function	OMIM:188400
Auriculocondylar Syndrome 1	Ankylosis	OMIM:602483
Auriculocondylar Syndrome		ORPHA:137888

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 Gnai3

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 Gnai3.

No publications found that use IMPC mice or data for Gnai3.

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
Gnai3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gnai3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Gnai3^{tm295958(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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