Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
guanine nucleotide binding protein (G protein), alpha inhibiting 3
Synonyms:
Galphai3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
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
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Bell-shaped thorax... OMIM:611702
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... ORPHA:66637
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... OMIM:609052
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Platyspondyly, Short palm, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Pectus carina... ORPHA:64755
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
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
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Generalized... ORPHA:2790
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... ORPHA:93304
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... ORPHA:1354
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... ORPHA:1988
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... OMIM:259440
Metatropic Dysplasia
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... ORPHA:2635
Brachyolmia, Maroteaux Type
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax ORPHA:93302
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Brachydactyly, Proximal symphalangism, Tarsal synostosis, Hu... OMIM:610017
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosi... ORPHA:40
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Camptodactyly of finger, Short neck, Scolios... ORPHA:2311
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Limitation of joint mobility, Short metacarpal, Osteoarthritis, Platyspondyly, Synosto... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Short thorax, Vertebral fusion, Short long bone, Sacral dimple OMIM:618845
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... OMIM:608728
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... OMIM:608406
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fuse... OMIM:618469
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Short nec... ORPHA:2522
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Short ribs, Abno... OMIM:613330
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... OMIM:602271
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... ORPHA:168549
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, B... ORPHA:474
Thoracomelic Dysplasia
Narrow chest, Short ribs, Short neck, Bell-shaped thorax, Abnormality of fibula morphology, Hyper... ORPHA:1803
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Narrow chest, Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, Pectus excav... OMIM:263540
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Hypoplasia of the capital femoral epip... ORPHA:239
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Horizontal ribs, Thoracic... OMIM:615633
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocke... OMIM:265000
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Pectus carinatum, Bell-shaped thorax, Genu valgum, V... OMIM:255710
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Short neck, Vertebral segmentation defect ORPHA:2578
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Vertebral segmentation defect, Hemiverteb... ORPHA:1394
Holt-Oram Syndrome
Sprengel anomaly, Joint stiffness, Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abse... ORPHA:392
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Diastrophic Dysplasia
Abnormal clavicle morphology, Symphalangism affecting the phalanges of the hand, Ulnar deviation ... ORPHA:628
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bod... ORPHA:1486
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, A... ORPHA:93267
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... ORPHA:2319
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Dumbbell-shaped long b... ORPHA:485
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... ORPHA:2234
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... ORPHA:2097
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Hyperparathyroidism, Transient Neonatal
Narrow chest, Thin ribs, Short ribs, Femoral bowing, Osteopenia OMIM:618188
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Osteogenesis Imperfecta, Type Xxi
Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Barrel-shaped chest, Bowing... OMIM:619131
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Abnormal cervical curvature... OMIM:312150
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Long clavicles... OMIM:171480
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Abnormal thorax morphology, Clinodac... ORPHA:1445
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Scoliosis, Pectus carinatum, Thora... ORPHA:313892
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Abnormal cervical curvature... OMIM:253290
Fibrochondrogenesis 2
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Platyspondyly, Hypoplast... OMIM:614524
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Thin ribs, Platyspondyly, Crumpled long bones, Wormian bones,... OMIM:166210
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Short neck, Platyspondyly, Cone-shaped capital femoral epiphysis, Small epiphy... OMIM:300232
Kbg Syndrome
Delayed skeletal maturation, Cutaneous syndactyly, Short neck, Finger clinodactyly, Scoliosis, Th... ORPHA:2332
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Short neck, Pla... ORPHA:582
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... OMIM:604922
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Short ribs, Scoliosis, Pseudoarthrosis, Missing ribs OMIM:618155
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... OMIM:610319
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... OMIM:269250
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis ORPHA:2956
Kbg Syndrome
Delayed skeletal maturation, Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2... OMIM:148050
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Verheij Syndrome
Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Clinodactyly, Hip dislocation, Vertebral ... OMIM:615583
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Platyspondyly, 11 pair... OMIM:300863
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Multipl... ORPHA:2990
Mucolipidosis Iii Gamma
Joint stiffness, Kyphosis, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared i... OMIM:252605
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Joint hypermobility, Thin ribs, Femoral bowing, Biconcave vertebral bodies, ... OMIM:617952
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Genu valgum, Partia... OMIM:305620
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Joint hypermobility, Multiple rib fractures, Osteopenia, Decre... OMIM:616229
3M Syndrome
Congenital hip dislocation, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, Rocker bottom... ORPHA:2616
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Short fifth metatarsal, Hypoplastic acetabulae, Dysplastic sacrum, ... OMIM:134780
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... ORPHA:2180
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Interphalangeal joint contra... OMIM:151200
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Kyphosis, Thin ribs, Decreased calvarial ossification, Biconc... OMIM:259420
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Hand polydactyly ORPHA:261197
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Clubbing, Multinucleated giant chon... OMIM:108720
Melnick-Needles Syndrome
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... ORPHA:2484
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hemivertebrae, Brachydact... ORPHA:2916
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of th... ORPHA:2021
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... OMIM:206900
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... OMIM:253010
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... ORPHA:2759
Fibrochondrogenesis 1
Short neck, Platyspondyly, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Tho... OMIM:228520
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... OMIM:619698
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short foot, Short thorax, Abnormal enchondral ... ORPHA:93298
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal for... ORPHA:2876
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sprengel anomaly, Rib fusion, Bifid ribs, Pectus excavatum, Narrow chest, Overlapping toe, Beakin... OMIM:213980
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology ORPHA:1703
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, J... ORPHA:2050
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... ORPHA:3082
Spondylocarpotarsal Synostosis Syndrome
Scapular winging, Short neck, Pectus carinatum, Block vertebrae, Delayed skeletal maturation, Ver... OMIM:272460
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:600081
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... ORPHA:50
Dysosteosclerosis
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Broad ribs, Delayed closure of the ... OMIM:224300
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Flaring of rib c... OMIM:612852
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Genu recurvatum, Abnormal vertebral segmentatio... ORPHA:915
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Kyphosis, Thin ribs, Femoral retroversion, Fem... OMIM:610915
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Short neck, Short foot, Short thorax, ... ORPHA:93299
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Short ribs, Brachydactyly, Polydactyly, Scoliosis, Short long bone OMIM:613819
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormality... ORPHA:3035
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... OMIM:184460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly, Delayed skeletal maturation ORPHA:2643
Cog1-Cdg
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... ORPHA:263508
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Achondrogenesis, Type Ia
Narrow chest, Bowing of the legs, Short clavicles, Short ribs, Hypoplasia of the radius, Hypoplas... OMIM:200600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... OMIM:300106
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Reduced bone mineral density, Camptodactyly of finger, Scoliosis, A... ORPHA:1488
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Short long bone... OMIM:618019
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bowing of the long ... ORPHA:436
Baller-Gerold Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Rib fusion, Carpal s... OMIM:218600
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Sacral dimple, Elbow dislocation, Sho... ORPHA:1507
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Block verteb... OMIM:304050
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187600
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T... ORPHA:93324
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... ORPHA:3027
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia, Scoliosis ORPHA:530983
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Short ribs, Elbow flexion contracture, Knee flexion contracture,... ORPHA:1145
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Lethal Kniest-Like Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Shor... ORPHA:2347
Gorlin Syndrome
Arachnodactyly, Hemivertebrae, Brachydactyly, Scoliosis, Vertebral wedging, Vertebral fusion ORPHA:377
Arthrogryposis, Distal, Type 3
Overlapping toe, Decreased hip abduction, Pectus excavatum, Lumbar hyperlordosis, Abnormal rib ca... OMIM:114300
Basal Cell Nevus Syndrome
Sprengel anomaly, Bifid ribs, Short distal phalanx of the thumb, Abnormal sternum morphology, Kyp... OMIM:109400
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... OMIM:252600
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Synostosis of carpal bones, Scoliosis, Short thumb, ... ORPHA:3258
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Osteopenia, Short neck, Scoliosis... OMIM:611209
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Osteopenia, Broad femoral neck, Wormian bones, Short tubular bone... ORPHA:85184
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... OMIM:130720
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis OMIM:618265
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Short neck, Pectus carinatum, Cervical ribs, Abnormality of the odontoid process OMIM:609654
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Small hand, Thin clavicles, Slender long bone, Short foot, Delayed clo... OMIM:244460
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Thin ribs, Split f... ORPHA:958
Wolf-Hirschhorn Syndrome
Rib fusion, Kyphosis, Split hand, Arachnodactyly, Abnormality of the vertebral column, Scoliosis,... ORPHA:280
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Pectus carinatum, Slender long bon... OMIM:612921
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:3109
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Accelerated skeletal maturation, Abnormal scapula morphology, Cone-shaped epiphysis... ORPHA:93317
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Limitation of joint mobility, Short metacarpal, Short femur, Undula... OMIM:211350
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... OMIM:613848
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... ORPHA:163966
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... OMIM:203500
Pallister-Hall Syndrome
Rib fusion, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Hemivertebrae, Syndactyly, Po... OMIM:146510
Pyknoachondrogenesis
Enlarged thorax, Sclerosis of skull base, Abnormal iliac wing morphology, Unossified sacrum, Shor... ORPHA:3003
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Sacral dimple ORPHA:544488
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Joint hypermobility, Cone-shaped epiphysis, Brachydactyly, Scolios... OMIM:157800
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormi... OMIM:616294
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Joint stiffness, Kyphosis, Short neck, Genu valgum, Broad ribs, Ovoid verte... ORPHA:583
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Accelerated skeletal maturation, Platyspondyly, Broad finger, G... OMIM:619636
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphol... ORPHA:2167
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Cleidocranial Dysplasia
Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... ORPHA:1452
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Brac... OMIM:617895
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Ab... ORPHA:3068
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Short thumb, Abnormal rib morpholo... ORPHA:1120
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Cantú Syndrome
Narrow chest, Short distal phalanx of finger, Accelerated skeletal maturation, Broad hallux phala... ORPHA:1517
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, S... ORPHA:2911
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ili... OMIM:245190
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... OMIM:250220
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Epiphyseal stippling of toe phalanges, Cervical vertebral dysplasia, Epiphysea... ORPHA:79345
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Finger syndactyly ORPHA:2145
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal vert... ORPHA:90652
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Multiple rib fractures, Short femur, Short ribs,... OMIM:616897
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:241530
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs, Preaxial hand polydactyly OMIM:601389
Mosaic Trisomy 20
Narrow chest, Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/s... ORPHA:1724
Microcephaly-Micromelia Syndrome
Narrow chest, Forearm undergrowth, Craniosynostosis, Short tibia, Short neck, Abnormal rib morpho... OMIM:251230
Craniometadiaphyseal Dysplasia
Sclerosis of skull base, Osteopenia, Flared metaphysis, Scoliosis, Wormian bones, Genu varum, Gen... OMIM:269300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... OMIM:271640
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Platyspondyly, C1-C2 subluxation, Hip subluxation, Posterior rib... OMIM:271665
Robinow Syndrome
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebr... ORPHA:97360
Antley-Bixler Syndrome
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodac... ORPHA:83
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Short distal phalanx of finger, Abnormal bone ossification, Thin ribs, Triangular s... ORPHA:73230
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... ORPHA:2769
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Partial absence of specific antibody response to unconjugated pn... OMIM:240500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Short long bone, Short ribs, Postaxial polydac... OMIM:613091
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... OMIM:619227
Cartilage-Hair Hypoplasia
Accelerated skeletal maturation, Abnormally ossified vertebrae, Short neck, Pectus carinatum, Abn... ORPHA:175
Wolf-Hirschhorn Syndrome
Delayed skeletal maturation, Rib fusion, Preaxial foot polydactyly, Abnormal sternal ossification... OMIM:194190
Xylt1-Cdg
Short clavicles, Joint dislocation, Accelerated skeletal maturation, Flared metaphysis, Short fem... ORPHA:370930
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria OMIM:252920
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abno... ORPHA:1834
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Ovoid thoracolumbar... OMIM:252930
Osteogenesis Imperfecta, Type Vii
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Multiple rib ... OMIM:610682
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib... ORPHA:3242
Zttk Syndrome
Rib fusion, Kyphosis, Flexion contracture, Craniosynostosis, Small hand, Hemivertebrae, Scoliosis... OMIM:617140
Opsismodysplasia
Narrow chest, Short palm, Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Sh... OMIM:258480
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Short humerus, Platyspondy... OMIM:304150
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... ORPHA:2970
Cartilage-Hair Hypoplasia
Narrow chest, Coxa vara, Metaphyseal dysplasia, Metaphyseal cupping, Prominent sternum, Asymmetry... OMIM:250250
Campomelia, Cumming Type
Abnormally ossified vertebrae, Brachydactyly, Abnormal thorax morphology, Abnormal rib morphology... ORPHA:1318
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Short ribs, Cone-shaped epiphyses of phalanges 2 to 5, Pectus car... OMIM:225500
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib cage morphology, Down-sloping shou... OMIM:227330
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs, Scapular winging OMIM:619122
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Arachnodactyly, Scoliosis, Hip disloca... ORPHA:96169
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Hypoplastic pelvis, Cubitus valgus, B... OMIM:114620
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Lethal Congenital Contracture Syndrome 10
Narrow chest, Thoracic scoliosis, Adducted thumb, Overlapping fingers, Short neck, Broad ribs, St... OMIM:617022
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of fin... ORPHA:96061
Shwachman-Diamond Syndrome 1
Narrow chest, Coxa vara, Metaphyseal chondrodysplasia, Narrow greater sciatic notch, Metaphyseal ... OMIM:260400
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Scapul... OMIM:617796
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Thoracic hypoplasia, Acetabular... ORPHA:1505
Gm1-Gangliosidosis, Type I
Thickened ribs, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bod... OMIM:230500
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Short femoral neck, Wormian bones, Tapered finger, Fused cervical vertebrae, Fla... OMIM:617159
Van Den Ende-Gupta Syndrome
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... OMIM:600920
Acrorenal-Mandibular Syndrome
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Split foot, Hypoplasia of the radiu... OMIM:200980
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Delayed skeletal maturation, ... OMIM:224690
1P36 Deletion Syndrome
Bifid ribs, Rib fusion, Joint stiffness, Clinodactyly of the 5th finger, Kyphosis, Spinal canal s... ORPHA:1606
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Postaxial hand polydactyly, Bro... ORPHA:2519
Radio-Renal Syndrome
Hypoplasia of the radius, Short neck, Brachydactyly, Abnormal form of the vertebral bodies, Abnor... ORPHA:3015
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Short neck, Broad hallux, Hypermobility of interphalangeal joint... ORPHA:508498
Mucopolysaccharidosis, Type Vi
Prominent sternum, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodies, Anterior we... OMIM:253200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6... OMIM:300853
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Clinodactyly of the 5th finger, Ab... ORPHA:52
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Popliteal pterygium, Scoliosis, Abnormal rib morphology, Split hand, Finger synd... ORPHA:1300
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... OMIM:308205
Trisomy 13
Narrow chest, Ectrodactyly, Kyphosis, Scoliosis, Postaxial hand polydactyly, Abnormal rib morphol... ORPHA:3378
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Shoulder dislocation... OMIM:607323
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Irregular, rachiti... ORPHA:289157
Koolen-De Vries Syndrome
Kyphosis, Pectus excavatum, Spondylolisthesis, Slender finger, Prominent fingertip pads, Prominen... OMIM:610443
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... ORPHA:959
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level ORPHA:277
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel-shaped chest... OMIM:276820
Myhre Syndrome
Overlapping toe, Short toe, 2-3 toe syndactyly, Joint stiffness, Limitation of joint mobility, Co... OMIM:139210
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short... OMIM:208500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Preaxial hand polydactyly, Platyspondyly, Brachy... OMIM:263520
Severe Congenital Nemaline Myopathy
Flexion contracture, Adducted thumb, Thin ribs, Abnormal thorax morphology, Arthrogryposis multip... ORPHA:171430
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, Fused cervical vertebra... OMIM:609053
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Osteopenia, Short neck, Broad femoral neck, Spina bifida occulta, Abnormal rib morpho... ORPHA:488434
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus excavatum, Genu recurvatum, Joint contracture of the hand, Thin ri... OMIM:182212
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Absent thumb, Arachnodactyly, Hemivertebrae, Sl... ORPHA:500150
Schwartz-Jampel Syndrome
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... ORPHA:800
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proxim... OMIM:601559
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Abnormal clavicle morphology, Abnormal morphology of ... ORPHA:249
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Scolios... ORPHA:93473
Apert Syndrome
Delayed epiphyseal ossification, Cervical C5/C6 vertebrae fusion, Humeroradial synostosis, Finger... OMIM:101200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... OMIM:609945
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Abnormal bone ossification, Thin ribs, Arachnodactyly, Osteopenia, Thin metatar... ORPHA:2463
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent sternum, Flexion cont... ORPHA:254528
Kagami-Ogata Syndrome
Kyphoscoliosis, Thin ribs, Long clavicles, Flexion contracture, Long fingers, Bell-shaped thorax,... OMIM:608149
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... ORPHA:1647
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Arachnodactyly, Prominent metopic ridge, Camptodactyly of finger, Sco... ORPHA:2215
Pallister-Hall Syndrome
Polydactyly affecting the 3rd finger, Rib fusion, Overlapping toe, Radial bowing, Bilateral posta... ORPHA:672
Sclerosteosis 1
Cortically dense long tubular bones, 2-3 finger syndactyly, Syndactyly, Broad clavicles, Deviatio... OMIM:269500
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Rib fusion, Clinodactyly of the 5th finger, Camptodactyly of finger, 11 pairs of ribs... OMIM:607872
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Aplasia/Hypoplasia involving the pelvis, Abnormally ossifi... ORPHA:3301
Gracile Bone Dysplasia
Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Decreased skull ossification OMIM:602361
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Osteopenia, Biconcave vertebra... ORPHA:666
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... ORPHA:95699
Vacterl/Vater Association
Vertebral segmentation defect, Finger syndactyly, Abnormal rib morphology, Aplasia/Hypoplasia of ... ORPHA:887
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Pectu... OMIM:114290
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Short toe, Pectus excavatum, Clinodactyly of the 5th finger, Short... ORPHA:373
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Epiphyseal dysplasia, Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral ... OMIM:252940
Trisomy 1Q
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Short thorax, Preaxial hand pol... ORPHA:261344
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
Aspergillosis
Abnormal rib morphology, Abnormality of the vertebral column, Osteomyelitis, Abnormal long bone m... ORPHA:1163
Lenz-Majewski Hyperostotic Dwarfism
Proximal symphalangism of hands, Progressive sclerosis of skull base, Hyperextensibility of the f... OMIM:151050
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Thin ribs, Flexion contracture, Wide cranial sutures, Scoliosis, Limited elbow m... OMIM:614008
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Delayed skeletal maturation, Horizontal ribs, Bell-shaped thorax OMIM:614857
Weill-Marchesani Syndrome 1
Broad metacarpals, Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Broad phalanges ... OMIM:277600
Frontometaphyseal Dysplasia 2
Dislocated radial head, Hip contracture, Pectus excavatum, Congenital hip dislocation, Finger cli... OMIM:617137
Monosomy 9Q22.3
Kyphosis, Pectus excavatum, Accelerated skeletal maturation, Short neck, Abnormality of the verte... ORPHA:77301
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty... OMIM:617925
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Bell-shaped thorax, Hypopl... OMIM:616300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Clinodac... ORPHA:96334
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Joint hypermobility OMIM:300219
Duane Retraction Syndrome
Hypoplasia of the radius, Abnormal vertebral segmentation and fusion, Absent radius, Short neck, ... ORPHA:233
Short-Rib Thoracic Dysplasia 12
Narrow chest, Bowing of the legs, Short toe, Short ribs, Bowing of the arm, Brachydactyly, Short ... OMIM:269860
Myhre Syndrome
Joint stiffness, Large iliac wing, Abnormality of the pubic bone, Brachydactyly, Platyspondyly, A... ORPHA:2588
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous rib insertion ... OMIM:117650
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasia of the ra... OMIM:266910
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Posterior rib fusion OMIM:265380
Kagami-Ogata Syndrome
Kyphoscoliosis, Limitation of joint mobility, Coat hanger sign of ribs, Short neck, Bell-shaped t... ORPHA:254519
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Abnormality of B ce... OMIM:600802
Apert Syndrome
Vertebral segmentation defect, Broad thumb, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia o... ORPHA:87
Weill-Marchesani Syndrome 2
Broad metacarpals, Delayed skeletal maturation, Spinal canal stenosis, Joint stiffness, Lumbar hy... OMIM:608328
Osteopathia Striata With Cranial Sclerosis
Sclerosis of skull base, Pectus excavatum, Clinodactyly of the 5th finger, Joint contracture of t... OMIM:300373
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Thin ribs, Long clavicles, Arachnodactyly, Contracture of the distal interphalan... ORPHA:83617
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Tibial bowing, Widely patent fontanelles and sutures, Short stern... OMIM:269150
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Sclerosis of skull base, Increased intervertebral space, Platyspondyly, Br... OMIM:619727
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasi... ORPHA:3404
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Joint dislocation, Thin ribs, Arachnodactyly, Osteopenia, Congenital hip dislocat... OMIM:225400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:603909
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Joint stiffness, Avascular necrosis, Pectus excavatum, Cortical thickening of lon... ORPHA:309282
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Short clavicles, Short ribs, Postaxial polydactyly, Cone-shaped epiphysis, Brachyda... OMIM:617088
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:572
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Slender long bone, Apl... ORPHA:2554
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Hallermann-Streiff Syndrome
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Tracheomalacia, Metaphyseal widening, ... OMIM:234100
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Recurrent fractures, Craniosynostosis, Osteopetrosis, Reduced bone mineral density,... ORPHA:667
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Mucopolysaccharidosis Type 3
Joint stiffness, Abnormal clavicle morphology, Flexion contracture, Reduced bone mineral density,... ORPHA:581
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Chops Syndrome
Cervical C2/C3 vertebral fusion, Brachydactyly, Tracheomalacia OMIM:616368
Vater/Vacterl Association
Abnormal sternum morphology, Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Scoliosi... OMIM:192350
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad metacarpals, Tapered finger, Limited elbow extension, Hyperlordosis, Broad long bone diaphy... OMIM:301066
Monosomy 9P
Short neck, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphology, Postaxial ha... ORPHA:261112
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal rib morphology, Abnormal metacarp... ORPHA:2907
Mandibuloacral Dysplasia Progeroid Syndrome
Decreased fibular diameter, Joint stiffness, Pectus excavatum, Thin ribs, Flexion contracture, De... OMIM:619127
Trisomy 18
Abnormal hip bone morphology, Camptodactyly of finger, Deviation of finger, Abnormal rib morpholo... ORPHA:3380
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Abnormality ... OMIM:613179
Smith-Lemli-Opitz Syndrome
Kyphosis, 2-3 toe syndactyly, Split hand, Short neck, Brachydactyly, Scoliosis, Abnormal form of ... ORPHA:818
Fetal Akinesia Deformation Sequence 1
Elbow ankylosis, Thin ribs, Camptodactyly of finger, Short neck, Slender long bone, Arthrogryposi... OMIM:208150
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Cranioectodermal Dysplasia 2
Narrow chest, Pectus excavatum, Craniosynostosis, Short ribs, Short neck, Brachydactyly, Polydact... OMIM:613610
Craniorachischisis
Bifid sternum ORPHA:63260
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function ORPHA:1830
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Femur fracture, Multiple rib fractures OMIM:612301
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Overlapping toe, Tibial bowing, Abnormal clavicle morphology, Kyp... ORPHA:798
Vici Syndrome
Decreased T cell activation, Cutaneous anergy, Decreased circulating IgG level, Decreased circula... OMIM:242840
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Tracheomalacia, Small hand, Brach... ORPHA:444077
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Joint stiffness, Kyphosis, Recurrent fractures, Platyspondyly, Osteomalacia, Scol... ORPHA:534
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum, Brachydactyly, Shortening of all phalanges of ... OMIM:211380
Kindler Epidermolysis Bullosa
Flexion contracture, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Shor... ORPHA:2908
Orotic Aciduria
Impaired T cell function OMIM:258900
Fryns Syndrome
Short distal phalanx of finger, Joint contracture of the hand, Prominent fingertip pads, Thin rib... OMIM:229850
Alagille Syndrome 1
Short distal phalanx of finger, Hemivertebrae, Abnormal rib morphology, Hypoplasia of the ulna, B... OMIM:118450
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Spinal canal stenosis, Flexion contracture, Camptodactyly of finger, Arthritis, A... ORPHA:217085
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgE level, Defective T cell proliferation, Inc... OMIM:618213
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Spinal canal stenosis, Flexion contracture, Camptodactyly of finger, Arthritis, A... ORPHA:217093
Restrictive Dermopathy
Multiple joint contractures, Widely patent fontanelles and sutures, Thin ribs, Aplasia/Hypoplasia... ORPHA:1662
Coccidioidomycosis
Osteomyelitis, Abnormality of the vertebral column, Arthritis, Abnormal long bone morphology, Abn... ORPHA:228123
Townes-Brocks Syndrome
Clinodactyly of the 5th finger, Toe clinodactyly, Partial duplication of thumb phalanx, Broad hal... ORPHA:857
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... OMIM:618131
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... ORPHA:51608
Charge Syndrome
Clinodactyly of the 5th finger, Hemivertebrae, Brachydactyly, Scoliosis, Abnormality of tibia mor... ORPHA:138
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Congenital hip dislocation, Absence of the sacrum, Short long bone OMIM:306955
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:991
Craniofacial Microsomia
Partial duplication of thumb phalanx, Hemivertebrae, Scoliosis, Cervical ribs, Genu valgum, Verte... OMIM:164210
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Oligoclonal T cell expansion ORPHA:83471
Wiedemann-Rautenstrauch Syndrome
Narrow chest, Widely patent fontanelles and sutures, Thin ribs, Short femur, Flexion contracture,... OMIM:264090
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures, Pectus excavatum, Prominent floating ribs ORPHA:2785
Charge Syndrome
Absent tibia, Hand polydactyly, Hemivertebrae, Down-sloping shoulders, Scoliosis, Short thumb, Ab... OMIM:214800
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
Increased circulating antibody level, Abnormality of T cell physiology 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.

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MGI Allele Allele Type Produced
Gnai3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gnai3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gnai3tm295958(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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