Gene Summary

Name:
pyroglutamylated RFamide peptide receptor
Synonyms:
AQ27,  Gpr103

IMPC Data Collections

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.

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Viewing: all phenotypes

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 Qrfpr mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Osteopenia, Flat acetabular roof, Intervertebral space narrowing,... OMIM:271530
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Hip Dysplasia, Beukes Type
Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck,... ORPHA:2114
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... ORPHA:163665
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Gnathodiaphyseal Dysplasia
Scoliosis, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Joint stiffness, Kyphoscoliosis, Stiff neck OMIM:616583
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Recurrent fractures, Vertebral compression fracture ORPHA:85193
Bethlem Myopathy 2
Hip dislocation, Kyphosis, Flexion contracture, Joint laxity OMIM:616471
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Spinal rigidity OMIM:618323
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Kyphosis, Pterygium, I... OMIM:259450
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Short neck OMIM:300718
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Genu valgum, Ovoid vertebral bodies, Kyphosis, Recurrent fractures, Abn... ORPHA:93315
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Symbrachydactyly Of Hands And Feet
Scoliosis, Vertebral segmentation defect, Abnormality of the humeroulnar joint ORPHA:1570
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Genu valgum, Intervertebral disc degeneration, Decreased hip ... ORPHA:93311
Brachyolmia Type 1, Toledo Type
Back pain, Irregular vertebral endplates, Intervertebral space narrowing, Precocious costochondra... OMIM:271630
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Spondylocamptodactyly
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly OMIM:600000
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Kyphosis, Knee flexion contracture,... OMIM:600175
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis OMIM:236660
Congenital Amegakaryocytic Thrombocytopenia
Scoliosis, Short neck, Decreased skull ossification, Abnormal form of the vertebral bodies ORPHA:3319
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Abnormality of the vertebral column, Increased bone mineral density OMIM:602475
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Dysspondyloenchondromatosis
Scoliosis, Platyspondyly, Genu valgum, Enlarged joints, Anisospondyly, Generalized joint laxity, ... ORPHA:85198
Eiken Syndrome
Cubitus valgus, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip move... ORPHA:79106
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Genu varum, Advanced ossification of carpal bones, Vertebral... OMIM:617719
Bruck Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Arthrogryposis multiplex congenita, Wormian bones, Kyphos... ORPHA:2771
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Recurrent fractures, Osteopenia, Vertebral wedging OMIM:301014
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis OMIM:618392
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Abnormal bone ossification, Coronal cleft vertebrae, Coarse metaphyseal tra... ORPHA:1952
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Kyphosis, Thoracolumbar scoliosis, Knee flexion contracture, Hip ... OMIM:313420
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Osteoporosis OMIM:618234
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Joint laxity, Kyphosis, Increased susceptibility to fractures, Congenital bilateral hi... OMIM:130060
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Kyphosis, Decreased calvarial ossification, Recurrent fr... OMIM:259440
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Incre... OMIM:613982
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Arthrogryposis multiplex congenita, Kyphoscoliosis OMIM:212540
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Elbow ankylosis, Kyphoscoliosis, Osteochondrosis, Hamstring contra... ORPHA:96183
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis, Osteoarthritis OMIM:184300
Weismann-Netter Syndrome
Scoliosis, Calvarial hyperostosis, Kyphosis, Horizontal sacrum OMIM:112350
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology ORPHA:2015
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Abnorma... OMIM:156530
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae OMIM:230650
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Limitation of joint mobility ORPHA:3454
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Joint hyperflexibility, Kyphosis ORPHA:1875
Kuskokwim Syndrome
Scoliosis, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form of the vertebral bodies ORPHA:1149
Osteogenesis Imperfecta, Type V
Platyspondyly, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies ORPHA:1802
Isolated Cloverleaf Skull Syndrome
Craniosynostosis, Limitation of joint mobility, Abnormal form of the vertebral bodies ORPHA:2343
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Foot acroosteolysis, Wormian bones, Osteolysis, Abnormality of the knee, Abnormal ... ORPHA:970
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Kyphoscoliosis OMIM:300844
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Congenital bilateral hip dislocation ORPHA:85288
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral segmentation defect, Vertebral clefting, Hemivertebrae OMIM:608681
Fetal Akinesia Deformation Sequence 4
Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Camptodactyly, Short neck OMIM:618393
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Platyspondyly, Camptodactyly of finger, Joint swelling, Enlarged interphalangeal jo... OMIM:208230
Shashi-Pena Syndrome
Scoliosis, Kyphosis, Osteoporosis OMIM:617190
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebral bodies, Anterior rib pu... ORPHA:1426
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Abn... ORPHA:93284
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Increased bone mineral density, Joint s... OMIM:136300
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Genu valgum, Joint dislocation, Abnormality of the wrist, Kyphoscoliosis ORPHA:93316
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Flexion contracture, Kyphoscoliosis OMIM:617977
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxation, Kyphosc... OMIM:184100
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal bones, Spina bifi... OMIM:102510
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Increased susceptibilit... OMIM:610968
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Synostosis of joints, Ectopic ossification in muscle tissue, Ectop... ORPHA:337
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Joint stiffness ORPHA:1548
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, Kyphosis, Flexion cont... OMIM:618291
Osteogenesis Imperfecta, Type Iv
Scoliosis, Wormian bones, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased ... OMIM:166220
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... OMIM:184252
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Hip dislocation OMIM:300434
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Duchenne And Becker Muscular Dystrophy
Scoliosis, Reduced bone mineral density, Hyperlordosis, Joint stiffness ORPHA:262
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... OMIM:607326
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Kyphoscoliosis OMIM:612847
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Genu valgum, Coronal cleft vertebrae, Abnormal vertebral morphology, Ir... OMIM:618363
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Intermediate Osteopetrosis
Cortical sclerosis, Sandwich appearance of vertebral bodies, Back pain, Generalized osteosclerosi... ORPHA:210110
Sillence Syndrome
Scoliosis, Platyspondyly, Intervertebral disc degeneration, Abnormal vertebral morphology, Campto... ORPHA:3168
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound o... OMIM:313400
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormality of the vertebral endplates, Recurrent fractures, Generalized oste... OMIM:166600
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Biconcave vertebral bodies... OMIM:259420
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Cervical kyphosis, Kyphoscoliosis... OMIM:222600
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Platyspondyly, Joint hypermobility, Osteoporosis, Wormian bones, Dislocated radial hea... OMIM:614856
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Czech Dysplasia
Scoliosis, Platyspondyly, Thoracic kyphosis, Flexion contracture, Irregular vertebral endplates, ... OMIM:609162
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Flexion contracture OMIM:618484
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Polyarticular arthritis, Hypophosphatemic ... ORPHA:289176
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis, Hip dislocation OMIM:616756
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Ck Syndrome
Scoliosis, Joint hypermobility, Hyperlordosis, Kyphosis, Abnormal cortical bone morphology OMIM:300831
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis, Joint laxity OMIM:248760
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony co... OMIM:600785
Autosomal Recessive Spastic Paraplegia Type 53
Joint hyperflexibility, Kyphosis ORPHA:319199
Widow'S Peak Syndrome
Hip osteoarthritis, Kyphosis, Recurrent patellar dislocation, Arthralgia/arthritis OMIM:314570
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Spina bifida occulta, Hemivertebrae OMIM:184400
Richieri Costa-Da Silva Syndrome
Genu valgum, Generalized bone demineralization, Beaking of vertebral bodies, Decreased anteriopos... ORPHA:3101
Osteogenesis Imperfecta, Type Xvii
Scoliosis, Platyspondyly, Vertebral compression fracture, Osteoporosis OMIM:616507
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Wormian bones, Biconcave vertebral bodies, Beaking of vertebral bodi... OMIM:231070
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Short neck ORPHA:178148
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Reduced bone mineral density, Kyphosis, Vertebral segmentation defect ORPHA:2617
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Osteoporosis, Camptodactyly of finger, Kyphosis, Abnormality of the cervical spine ORPHA:48431
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Limited elbow extension, Dislocated radial head, Joint laxity, Abnormal... ORPHA:93359
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Hypoplasia of the odontoid process, Spina bifida occulta at S1, Abnormal vertebral mor... OMIM:601829
Brachyolmia Type 3
Scoliosis, Platyspondyly, Kyphosis, Short neck OMIM:113500
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Platyspondyly, Thoracolumbar kyphosis, Multiple joint dislocation, Delayed epiphyseal ... ORPHA:93360
Pseudoachondroplasia
Scoliosis, Platyspondyly, Limited elbow extension, Limited hip extension, Irregular carpal bones,... OMIM:177170
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Hyperlordosis, Shoulder flexion contracture, Patellar subluxation... ORPHA:536516
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Kyphosis, Flexion contracture, Hyperextensibility at wrists, Increased laxity of finge... ORPHA:75840
Sandhoff Disease
Kyphosis ORPHA:796
Calvarial Doughnut Lesions With Bone Fragility
Scoliosis, Platyspondyly, Osteoporosis, Recurrent fractures, Osteopenia OMIM:126550
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Wormian bones, Wide anterior fontanel, Joint laxity, Kyphosis, Recurren... OMIM:610915
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Kyphoscoliosis OMIM:122900
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Wide anterior fontanel, Abnormal form of the vertebral bodies, Kyphosis,... ORPHA:3098
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies ORPHA:3344
Arthrogryposis, Distal, Type 4
Scoliosis, Kyphosis, Lumbar scoliosis, Camptodactyly, Camptodactyly of 2nd-5th fingers, Distal ar... OMIM:609128
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Prominent metopic ridge ORPHA:85317
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Genu valgum, Kyphosis, Joint stiffness, Short neck OMIM:252605
Myotonia With Skeletal Abnormalities And Mental Retardation
Genu valgum, Vertebral wedging, Kyphoscoliosis OMIM:255710
Spastic Paraplegia 53, Autosomal Recessive
Joint hyperflexibility, Kyphosis OMIM:614898
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Kyphosis, Cervical spinal canal stenosis, Scheuermann-like vertebral changes OMIM:301900
Bruck Syndrome 2
Platyspondyly, Wormian bones, Flexion contracture, Pterygium, Increased susceptibility to fractur... OMIM:609220
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Shoulder dislocation ORPHA:2181
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Mental Retardation, Autosomal Dominant 57
Scoliosis, Joint hypermobility, Kyphosis, Craniosynostosis OMIM:618050
Joubert Syndrome 18
Camptodactyly, Joint laxity, Kyphoscoliosis OMIM:614815
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Kyphosis, Reduced bone mineral density, Spina bifida occulta, Short neck ORPHA:2983
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Joint hypermobility, Hyperlordosis, Wormian bones, Kyphosis, Hip dislocation, Joint su... OMIM:617821
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Myofibrillar Myopathy 10
Flexion contracture of finger, Kyphosis, Knee flexion contracture, Elbow flexion contracture, Ank... OMIM:619040
Mental Retardation, Autosomal Dominant 26
Scoliosis, Kyphosis, Arthrogryposis multiplex congenita OMIM:615834
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Delayed pubic bone ossification, Ovoid verteb... OMIM:183900
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Platyspondyly, Genu valgum, Enlarged joints, Kyphosis, Short neck, Limitation of joint... ORPHA:93314
Geroderma Osteodysplastica
Scoliosis, Platyspondyly, Osteoporosis, Abnormal bone ossification, Biconcave vertebral bodies, A... ORPHA:2078
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Osteopenia, Vertebral compression fracture OMIM:616229
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Ullrich Congenital Muscular Dystrophy 2
Joint hypermobility, Flexion contracture, Kyphoscoliosis OMIM:616470
Frank-Ter Haar Syndrome
Scoliosis, Camptodactyly of finger, Osteolysis, Beaking of vertebral bodies, Genu recurvatum, Kyp... ORPHA:137834
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Osteoporosis, Genu valgum, Joint laxity, Ovoid vertebral... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Generalized bone demineralization, Joint laxity, Abnorma... ORPHA:93352
Cole-Carpenter Syndrome 1
Scoliosis, Orbital craniosynostosis, Recurrent fractures, Coronal craniosynostosis, Osteopenia, V... OMIM:112240
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:628
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Osteoporosis, Genu valgum, Kyphosis, Back pain, Lumbar hyperlordosis, R... ORPHA:94068
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Short neck OMIM:611890
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Rickets, Recurrent fractures, Widely patent fontanelles and sutures, T... OMIM:600081
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Wormian bones, Joint laxity, Biconcave vertebral bodies, Recurrent fractures... OMIM:617952
Chst3-Related Skeletal Dysplasia
Scoliosis, Genu valgum, Cubitus valgus, Enlarged joints, Abnormal form of the vertebral bodies, A... ORPHA:263463
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger ORPHA:1883
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Congenital hip dislocation, Dislocation of toes, Camptodactyly of toe, Kyphosis, Joint... OMIM:300280
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Abnormal vertebral morphology, Delayed ossification of carpal bones, Restricted la... ORPHA:93346
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Osteoporosis, Genu valgum, Joint laxity, Ovoid vertebral... OMIM:253010
Pycnodysostosis
Hyperlordosis, Wormian bones, Osteolysis, Abnormality of the vertebral column, Abnormal vertebral... ORPHA:763
Hemangiomatosis, Cutaneous, With Associated Features
Joint hyperflexibility, Joint laxity, Abnormality of the vertebral column, Abnormal vertebral mor... OMIM:234800
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Sialidosis Type 2
Osteoporosis, Kyphosis, Flexion contracture ORPHA:87876
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis, Ankle clonus OMIM:617435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Kyphosis, Flexion contracture OMIM:609541
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Flexion contracture, Kyphosis OMIM:255200
Crisponi Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Flexion contracture, Limitation of joint mobility ORPHA:1545
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Genu recurvatum, Kyphosis OMIM:300602
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Small cervical vertebral bodies, Genu valgum, Cervical platyspondyly, ... OMIM:169170
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis OMIM:617061
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Cole-Carpenter Syndrome 2
Platyspondyly, Wormian bones, Lambdoidal craniosynostosis, Kyphosis, Coronal craniosynostosis, Os... OMIM:616294
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Joint hyperflexibility, Kyphosis, Reduced b... ORPHA:582
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Bone cyst, Joint stiffness ORPHA:2047
Joint Laxity, Short Stature, And Myopia
Osteopenia, Short neck, Kyphoscoliosis OMIM:617662
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis, Joint stiffness ORPHA:816
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture OMIM:618237
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Kyphosis, Flexion contracture of toe, Recurrent fractures,... ORPHA:3409
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Kyphoscoliosis OMIM:300886
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Genu recurvatum, Kyphosis OMIM:300431
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Spinal rigidity, Spinal deformities OMIM:615084
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Scoliosis, Osteolysis, Abnormal vertebral morphology, Craniofacial osteosclerosis, Hyperostosis, ... ORPHA:324964
Desbuquois Dysplasia 1
Scoliosis, Platyspondyly, Hyperlordosis, Osteoporosis, Joint laxity, Advanced tarsal ossification... OMIM:251450
X-Linked Dominant Chondrodysplasia Punctata
Kyphosis, Joint dislocation, Abnormal vertebral morphology ORPHA:35173
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Joint laxity, Hip dislocation, Carpal synostosis, Kyphoscoliosis, Advanced ossific... OMIM:615349
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis OMIM:128100
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, ... OMIM:300554
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Kyphosis OMIM:180870
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Rickets, Hypophosphatemic rickets, Recurrent fractures, Widely patent ... OMIM:241530
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Alpha-Mannosidosis
Scoliosis, Synostosis of joints, Craniofacial hyperostosis, Kyphosis, Short neck, Arthritis ORPHA:61
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Kyphosis, Back pain, Enthesitis, Oligoarthritis, Sacroiliac arthritis OMIM:106300
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Spondylolisthesis, Morbus Scheue... OMIM:108300
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis, Flexion contracture, Osteoporosis OMIM:615381
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Joint contracture of the 5th finger, Con... ORPHA:352490
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Kyphosis, Recurrent fractures, Increased bone mineral density OMIM:239000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis, Osteopetrosis OMIM:618476
Ullrich Congenital Muscular Dystrophy 1
Scoliosis, Distal joint laxity, Joint laxity, Kyphosis, Flexion contracture, Hyperextensibility a... OMIM:254090
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia, Kyphosis OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia, Kyphosis OMIM:610489
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Kyphosis OMIM:618443
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Sacral dimple, Kyphosis OMIM:615761
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:276950
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Kyphosis, Ankle clonus OMIM:614409
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis... ORPHA:2050
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
Jaberi-Elahi Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Joint stiffness OMIM:617988
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Kyphoscoliosis OMIM:227250
Progressive Non-Infectious Anterior Vertebral Fusion
Scoliosis, Abnormality of the vertebral column, Kyphosis, Hemivertebrae, Spinal rigidity, Abnorma... ORPHA:2062
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Rickets, Recurrent fractures, Widely patent fontanelles and sutures, T... OMIM:264700
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Kyphosis, Short neck, Synostosis of carpal bones ORPHA:3191
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Wormian bones, Massively thickened long bone cortices, Kyphosis, Persis... ORPHA:1798
Fountain Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Kyphosis, Coarse met... ORPHA:3219
Becker Nevus Syndrome
Scoliosis, Kyphosis, Spina bifida occulta ORPHA:64755
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Rickets, Recurrent fractures, Widely patent fontanelles and sutures, T... OMIM:277440
Thanatophoric Dysplasia
Platyspondyly, Joint hyperflexibility, Kyphosis, Joint stiffness, Abnormal sacroiliac joint morph... ORPHA:2655
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Rickets, Osteomalacia, Increased susceptibility to fractures, Wide cra... ORPHA:289157
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Genu valgum, Arthrogryposis multiplex congenita, Kyphosis, Flexion cont... ORPHA:171436
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia, Kyphosis OMIM:219080
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis ORPHA:3085
Achondroplasia
Thoracolumbar kyphosis, Limited elbow extension, Cervical spinal canal stenosis, Wide anterior fo... ORPHA:15
Mucopolysaccharidosis Type 6
Genu valgum, Ovoid vertebral bodies, Kyphosis, Joint stiffness, Short neck ORPHA:583
Dyggve-Melchior-Clausen Disease
Scoliosis, Platyspondyly, Multicentric ossification of proximal femoral epiphyses, Genu valgum, B... OMIM:223800
Dent Disease 1
Enlargement of the ankles, Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed ... OMIM:300009
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis, Genu recurvatum, Hyperextensibility of the finger joints OMIM:609008
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Achilles tendon contracture, Spinal rigidity, Join... ORPHA:98855
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Wormian bones, Abnormal form of the vertebral bodies, Craniofacial hype... ORPHA:2789
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Kyphosis, Arthrogryposis multiplex congenita OMIM:617143
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Spinal deformities ORPHA:352447
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Abnormal form of the vertebral bodies, Kyphosis, Abnormality ... ORPHA:2311
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Synostosis of carpal bones, Kyphosis, Abnormality of the elbow, Joint stiffness, Hip d... ORPHA:1005
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis, Joint hyperflexibility, Limitation of joint mobility ORPHA:93274
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis, Hip dislocation ORPHA:464282
Marinesco-Sjogren Syndrome
Scoliosis, Cubitus valgus, Kyphosis, Flexion contracture OMIM:248800
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis ORPHA:79107
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Achilles tendon contracture, Spinal rigidity, Join... ORPHA:98863
Gaucher Disease Type 1
Osteolysis, Kyphosis, Increased bone mineral density, Pathologic fracture, Osteopenia, Osteoarthr... ORPHA:77259
Hurler-Scheie Syndrome
Scoliosis, Kyphosis, Joint stiffness OMIM:607015
Wieacker-Wolff Syndrome
Scoliosis, Hyperlordosis, Congenital foot contractures, Arthrogryposis multiplex congenita, Kypho... OMIM:314580
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Scoliosis, Osteolysis, Posterior scalloping of vertebral bodies, Abnormal form of the vertebral b... ORPHA:3042
Gm1-Gangliosidosis, Type I
Scoliosis, Beaking of vertebral bodies, Kyphosis, Joint stiffness, Short neck, Hypoplastic verteb... OMIM:230500
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Vertebral fu... OMIM:130720
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Ruvalcaba Syndrome
Scoliosis, Abnormality of vertebral epiphysis morphology, Synostosis of carpal bones, Kyphosis, A... ORPHA:3121
Schaaf-Yang Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Camptodactyly OMIM:615547
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Platyspondyly, Kyphosis, Wide anterior fontanel OMIM:616482
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Kyphosis, Flexion contracture, Limited shoulder movement, Achilles tendon contracture,... OMIM:301041
4Q21 Microdeletion Syndrome
Scoliosis, Kyphosis, Short neck ORPHA:238750
Trisomy 9P
Scoliosis, Kyphosis, Short neck, Sacral dimple ORPHA:236
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Achilles tendon contracture, Spinal rigidity, Join... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Achilles tendon contracture, Spinal rigidity, Join... ORPHA:98853
Aneurysm-Osteoarthritis Syndrome
Scoliosis, Osteoporosis, Intervertebral disc degeneration, Camptodactyly of finger, Protrusio ace... ORPHA:284984
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Recurrent fracture... ORPHA:2769
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Congenital hip dislocation, Joint hyperflex... ORPHA:2616
Pelizaeus-Merzbacher Disease
Scoliosis, Kyphosis, Joint stiffness ORPHA:702
Mend Syndrome
Kyphosis OMIM:300960
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis OMIM:616449
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck, Hip dislocation OMIM:608776
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Limited elbow extension, Genu valgum, Biconcave vertebral bodies, Thoracic kyphosi... OMIM:271510
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis OMIM:181405
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Genu varum, Osteopenia ORPHA:2479
Cdags Syndrome
Lambdoidal craniosynostosis, Kyphosis, Delayed cranial suture closure, Sagittal craniosynostosis,... OMIM:603116
15Q14 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261190
Sialidosis Type 1
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:812
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology ORPHA:324737
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Elbow dislocation, Shoulder dislocation, Interverte... OMIM:143095
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis, Prominent metopic ridge ORPHA:261144
Harrod Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis ORPHA:2115
Atypical Rett Syndrome
Scoliosis, Kyphosis ORPHA:3095
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Flexion contracture of finger, Kyphosis, Camptodactyly, Osteomyelitis ORPHA:88628
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Joint laxity OMIM:300354
Spondyloperipheral Dysplasia
Platyspondyly, Limited elbow extension, Kyphosis, Flat acetabular roof, Acetabular spurs OMIM:271700
Hurler Syndrome
Short neck, Biconcave vertebral bodies, Kyphosis, Flexion contracture, Joint stiffness, Calvarial... OMIM:607014
Marden-Walker Syndrome
Scoliosis, Wide anterior fontanel, Radioulnar synostosis, Kyphosis, Camptodactyly, Congenital con... OMIM:248700
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Classical-Like Ehlers-Danlos Syndrome Type 2
Dislocated wrist, Joint hypermobility, Elbow dislocation, Radioulnar dislocation, Phalangeal disl... ORPHA:536532
Basilar Impression, Primary
Short neck, Kyphoscoliosis OMIM:109500
Thanatophoric Dysplasia Type 1
Platyspondyly, Wide anterior fontanel, Kyphosis, Joint stiffness, Abnormal sacroiliac joint morph... ORPHA:1860
Frank-Ter Haar Syndrome
Osteoporosis, Cortical irregularity, Wormian bones, Wide anterior fontanel, Kyphosis, Camptodacty... OMIM:249420
Trisomy 20P
Scoliosis, Platyspondyly, Camptodactyly of finger, Abnormal form of the vertebral bodies, Joint h... ORPHA:261318
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Platyspondyly, Joint hypermobility, Pathologic fracture, Increased susceptibility t... OMIM:259770
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Holt-Oram Syndrome
Scoliosis, Kyphosis, Joint stiffness, Radioulnar synostosis ORPHA:392
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Kyphosis, Recurrent fractures, Hip dislocation, Sh... ORPHA:140
Cono-Spondylar Dysplasia
Scoliosis, Kyphosis, Short neck ORPHA:420794
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Kyphosis, Ankle clonus OMIM:211530
Dent Disease
Enlargement of the ankles, Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed ... ORPHA:1652
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Atypical Werner Syndrome
Osteoporosis, Intervertebral disc degeneration, Sclerosis of hand bone, Chondrocalcinosis, Increa... ORPHA:79474
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Genu valgum, Finger joint hypermobility, Kyphosis, Hip contracture, Elbow flexion cont... OMIM:618493
Gm1 Gangliosidosis
Scoliosis, Platyspondyly, Hyperlordosis, Camptodactyly of finger, Abnormal form of the vertebral ... ORPHA:354
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Kyphosis, Ankle clonus ORPHA:88644
Acro-Renal-Mandibular Syndrome
Scoliosis, Kyphosis, Hemivertebrae, Hip dislocation, Short neck, Butterfly vertebrae ORPHA:958
Cockayne Syndrome Type 2
Scoliosis, Kyphosis, Flexion contracture ORPHA:90322
Occipital Horn Syndrome
Osteoporosis, Platyspondyly, Limited elbow extension, Genu valgum, Joint laxity, Limited knee ext... OMIM:304150
19P13.12 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Arthrogryposis multiplex congenita, Kyphosis, Short neck ORPHA:254346
Mosaic Trisomy 20
Scoliosis, Kyphosis, Vertebral segmentation defect, Vertebral fusion, Spinal canal stenosis, Fuse... ORPHA:1724
X-Linked Intellectual Disability Due To Gria3 Mutations
Scoliosis, Kyphosis, Joint laxity, Genu recurvatum ORPHA:364028
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Synostosis involving bones of the upper limbs, Finger sympha... ORPHA:221016
Fucosidosis
Anterior beaking of lumbar vertebrae, Kyphosis ORPHA:349
Pelger-Huet Anomaly
Kyphosis OMIM:169400
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Camptodactyly of finger, Cubitus valgus, Joint hyperflexibility, Kyphosis, Short neck ORPHA:85293
Genitopalatocardiac Syndrome
Scoliosis, Kyphosis ORPHA:2075
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Vertebral fusion, Hip dislocation, Vertebral segment... ORPHA:96169
Rett Syndrome
Scoliosis, Kyphosis OMIM:312750
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Loeys-Dietz Syndrome 3
Scoliosis, Intervertebral disc degeneration, Craniosynostosis, Protrusio acetabuli, Joint laxity,... OMIM:613795
Emanuel Syndrome
Scoliosis, Kyphosis, Congenital hip dislocation OMIM:609029
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Aplasia/Hypoplasia of the patella, Reduced bone mineral dens... ORPHA:2909
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Craniosynostosis, Kyphosis, Sacral dimple... ORPHA:508533
15Q24 Microdeletion Syndrome
Scoliosis, Kyphosis, Joint laxity ORPHA:94065
Schwartz-Jampel Syndrome
Scoliosis, Hyperlordosis, Platyspondyly, Arthrogryposis multiplex congenita, Osteoporosis, Wormia... ORPHA:800
Multiple Endocrine Neoplasia, Type Iib
Scoliosis, Hyperlordosis, Joint laxity, Kyphosis OMIM:162300
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Joint hyperflexibility, Kyphosis, Elbow ankylosis, Osteopetrosis, Abnormal cortical bo... ORPHA:2658
3C Syndrome
Scoliosis, Kyphosis, Short neck, Hemivertebrae ORPHA:7
Trisomy 13
Scoliosis, Kyphosis ORPHA:3378
Classic Homocystinuria
Scoliosis, Osteoporosis, Genu valgum, Kyphosis, Recurrent fractures, Joint stiffness ORPHA:394
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Occipital Horn Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Osteolysis, Genu valgum, Synostosis of joints, Rickets, J... ORPHA:198
Hajdu-Cheney Syndrome
Scoliosis, Hypoplastic 5th lumbar vertebrae, Osteoporosis, Osteolysis, Wormian bones, Biconcave v... ORPHA:955
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Finger symphalangism, Patellar hypoplasia, Genu varum, Patel... ORPHA:221008
Distal Tetrasomy 15Q
Scoliosis, Craniosynostosis, Kyphosis, Flexion contracture, Camptodactyly ORPHA:314588
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis, Genu varum ORPHA:1969
Cleidocranial Dysplasia
Scoliosis, Delayed pubic bone ossification, Wormian bones, Kyphosis, Spondylolysis, Persistent op... OMIM:119600
Coffin-Lowry Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Joint hyperflexibili... ORPHA:192
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Kyphosis, Short neck, Hemivertebrae OMIM:618223
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteoporosis, Joint laxity, Kyphosis, Joint dislocation, Progressive congenital scoliosis OMIM:225400
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
Micro Syndrome
Scoliosis, Kyphosis, Joint stiffness ORPHA:2510
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Wide anterior fontanel, Kyphosis, Delayed cranial suture closure, Coronal cran... ORPHA:85199
Lowe Oculocerebrorenal Syndrome
Scoliosis, Platyspondyly, Joint hypermobility, Camptodactyly of finger, Genu valgum, Rickets, Kyp... OMIM:309000
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteoporosis, Kyphosis, Lumbar hyperlordosis, Contracture of the proximal interphalangeal joint o... ORPHA:2232
Alstrom Syndrome
Scoliosis, Hyperostosis frontalis interna, Kyphosis OMIM:203800
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Kyphosis, Prominent metop... ORPHA:2215
Mucopolysaccharidosis, Type Ii
Kyphosis, Short neck, Flexion contracture OMIM:309900
Cowden Syndrome 5
Scoliosis, Kyphosis OMIM:615108
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Kyphosis, Flexion contracture OMIM:212065
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Ramon Syndrome
Scoliosis, Juvenile rheumatoid arthritis, Kyphosis OMIM:266270
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Scoliosis, Joint hypermobility, Kyphosis, Sacral dimple, Prominent coccyx, Osteopenia, Short neck... OMIM:300966
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Limited elbow extension, Delayed ossification of carpal bones, Kyphosis, Anterior ... OMIM:300106
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Wormian bones, Increased susceptibility to fractures, Osteoarthri... ORPHA:666
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Osteoporosis, Kyphosis, Flexion contracture, Osteopenia ORPHA:398069
Mucolipidosis Type Ii
Limited wrist movement, Craniosynostosis, Prominent metopic ridge, Kyphosis, Restricted chest mov... ORPHA:576
Alexander Disease
Scoliosis, Hyperlordosis, Kyphosis, Osteopenia, Short neck ORPHA:58
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis ORPHA:404440
16P13.2 Microdeletion Syndrome
Scoliosis, Kyphosis, Flexion contracture ORPHA:500055
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Platyspondyly, Kyphosis, Arthritis ORPHA:1855
Camurati-Engelmann Disease
Scoliosis, Hyperlordosis, Genu valgum, Abnormality of the vertebral column, Kyphosis, Craniofacia... ORPHA:1328
Cowden Syndrome 6
Scoliosis, Kyphosis OMIM:615109
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Craniosynostosis, Hyperextensibility of the finger joints OMIM:616914
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Scoliosis, Hyperlordosis, Joint laxity, Kyphosis OMIM:617011
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Spondylolisthesis, Sacral dimple, Vertebral fusion, Hip... OMIM:610443
Weaver Syndrome
Scoliosis, Limited elbow extension, Limited knee extension, Kyphosis, Camptodactyly, Joint contra... OMIM:277590
Poland Syndrome
Scoliosis, Kyphosis, Hemivertebrae, Reduced bone mineral density, Finger symphalangism, Spina bif... ORPHA:2911
Monosomy 9Q22.3
Abnormality of the vertebral column, Joint hyperflexibility, Kyphosis, Short neck, Metopic synost... ORPHA:77301
2P15P16.1 Microdeletion Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Patellar dislocation, Prominent metopic ridge ORPHA:261349
Stickler Syndrome
Scoliosis, Platyspondyly, Genu valgum, Protrusio acetabuli, Abnormal form of the vertebral bodies... ORPHA:828
Prader-Willi Syndrome
Scoliosis, Genu valgum, Osteoporosis, Kyphosis, Osteopenia OMIM:176270
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261250
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Shprintzen Omphalocele Syndrome
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:182210
Aspartylglucosaminuria
Scoliosis, Platyspondyly, Joint laxity, Beaking of vertebral bodies, Kyphosis, Spondylolysis, Spo... OMIM:208400
Cohen Syndrome
Scoliosis, Genu valgum, Cubitus valgus, Joint hyperflexibility, Kyphosis ORPHA:193
Wrinkly Skin Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Wide anterior fontanel, Congenital hip dislocation... OMIM:278250
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Microphthalmia, Lenz Type
Scoliosis, Camptodactyly of finger, Hyperlordosis, Kyphosis ORPHA:568
Rett Syndrome, Congenital Variant
Scoliosis, Kyphosis OMIM:613454
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:476126
Marfan Syndrome
Scoliosis, Joint hypermobility, Osteoporosis, Protrusio acetabuli, Kyphosis, Spondylolisthesis, L... ORPHA:558
Cowden Syndrome 1
Scoliosis, Kyphosis OMIM:158350
Marden-Walker Syndrome
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Radioulnar synostosis, Ab... ORPHA:2461
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Scoliosis, Genu valgum, Kyphosis, Knee flexion contracture, Hip contracture, Prominent crus of he... OMIM:619194
Primrose Syndrome
Osteoporosis, Genu valgum, Posterior scalloping of vertebral bodies, Kyphosis, Flexion contractur... OMIM:259050
Wolf-Hirschhorn Syndrome
Scoliosis, Osteoporosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Abno... ORPHA:280
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Kyphosis, Camptodactyly, Sacral dimple, Short neck OMIM:616894
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Kyphosis, Hyperextensibility of the finger joints ORPHA:521426
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Kyphosis, Lumbar hyperlordosis, Metopic synostosis, Kyphoscoliosis, Limitation of j... ORPHA:457359
X-Linked Intellectual Disability, Snyder Type
Osteoporosis, Kyphosis, Camptodactyly, Recurrent fractures, Kyphoscoliosis ORPHA:3063
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Kyphosis OMIM:617527
2Q31.1 Microdeletion Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Short neck, Vertebral segmentation defect, Prominen... ORPHA:251014
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 3rd finger ORPHA:464738
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Kyphosis OMIM:619005
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Ankle clonus ORPHA:171629
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Scoliosis, Flexion contracture of finger, Kyphosis, Abnormality of the cervical spine, Ankle flex... ORPHA:464311
Zttk Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae OMIM:617140
Cowden Syndrome
Scoliosis, Kyphosis, Bone cyst ORPHA:201
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Autosomal Recessive Robinow Syndrome
Scoliosis, Camptodactyly of finger, Synostosis of carpal bones, Elbow dislocation, Kyphosis, Sacr... ORPHA:1507
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Kyphosis OMIM:309585
Cockayne Syndrome B
Osteoporosis, Kyphosis, Ivory epiphyses of the phalanges of the hand, Limitation of joint mobility OMIM:133540
Dyrk1A-Related Intellectual Disability Syndrome
Scoliosis, Kyphosis, Multiple joint contractures, Abnormality of the cervical spine ORPHA:464306
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Hyperlordosis, Joint hypermobility, Cervical spinal canal stenosis, Craniosynostosis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Hyperlordosis, Joint hypermobility, Cervical spinal canal stenosis, Craniosynostosis, ... ORPHA:363958
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Platyspondyly, Genu valgum, Joint swelling, Joint hyperflexibility, Kyphosis, Recurren... ORPHA:534
Mend Syndrome
Kyphosis, Wide anterior fontanel, Sacral dimple ORPHA:401973
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Scoliosis, Joint laxity, Ankylosis, Kyphosis, Kyphoscoliosis OMIM:300967
Cockayne Syndrome A
Kyphosis, Ivory epiphyses of the phalanges of the hand, Limitation of joint mobility OMIM:216400
17Q11 Microdeletion Syndrome
Scoliosis, Osteoporosis, Osteolysis, Abnormality of the vertebral column, Beaking of vertebral bo... ORPHA:97685
Wolf-Hirschhorn Syndrome
Scoliosis, Radioulnar synostosis, Abnormal form of the vertebral bodies, Abnormal sternal ossific... OMIM:194190
Neurofibromatosis Type 1
Scoliosis, Genu valgum, Kyphosis, Recurrent fractures, Joint stiffness, Genu varum ORPHA:636
Non-Specific Syndromic Intellectual Disability
Scoliosis, Joint hypermobility, Kyphosis ORPHA:528084
Proteus Syndrome
Scoliosis, Craniosynostosis, Abnormal form of the vertebral bodies, Kyphosis, Hyperostosis, Joint... ORPHA:744
Coffin-Lowry Syndrome
Scoliosis, Delayed closure of the anterior fontanelle, Kyphosis, Lumbar kyphosis, Hyperextensibil... OMIM:303600
Cockayne Syndrome Type 3
Scoliosis, Kyphosis, Flexion contracture ORPHA:90324
Acromegaly
Joint swelling, Kyphosis, Osteoarthritis, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Joint swelling, Kyphosis, Osteoarthritis, Spinal canal stenosis ORPHA:314769
Turner Syndrome
Scoliosis, Osteoporosis, Genu valgum, Cubitus valgus, Kyphosis, Madelung deformity, Reduced bone ... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Scoliosis, Osteoporosis, Genu valgum, Cubitus valgus, Kyphosis, Madelung deformity, Reduced bone ... ORPHA:99413
Mosaic Monosomy X
Scoliosis, Osteoporosis, Genu valgum, Cubitus valgus, Kyphosis, Madelung deformity, Reduced bone ... ORPHA:99228
Monosomy X
Scoliosis, Osteoporosis, Genu valgum, Cubitus valgus, Kyphosis, Madelung deformity, Reduced bone ... ORPHA:99226
Smith-Lemli-Opitz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Hip dislocation, Short neck ORPHA:818
Williams Syndrome
Scoliosis, Hyperlordosis, Osteoporosis, Genu valgum, Radioulnar synostosis, Joint laxity, Abnorma... ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Platyspondyly, Camptodactyly of finger, Abnormality of the vertebral column, Abnormal vertebral m... ORPHA:2273
1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Delayed cranial suture closure, Joint stiffness, Sp... ORPHA:1606
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Scoliosis, Osteochondrosis, Kyphosis, Sacral dimple ORPHA:268261
Cockayne Syndrome
Scoliosis, Contractures of the large joints, Kyphosis, Congenital contracture ORPHA:191
Coffin-Siris Syndrome 1
Scoliosis, Dislocated radial head, Joint laxity, Kyphosis, Sacral dimple, Aplasia/Hypoplasia of t... OMIM:135900
Sotos Syndrome
Scoliosis, Craniosynostosis, Sacrococcygeal teratoma, Joint laxity, Abnormal vertebral morphology... ORPHA:821
Branchiooculofacial Syndrome
Hyperlordosis, Kyphosis, Fusion of middle ear ossicles, Short neck, Elbow flexion contracture OMIM:113620
Alström Syndrome
Hyperostosis frontalis interna, Kyphosis, Lumbar scoliosis, Thoracic scoliosis ORPHA:64

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 Qrfpr

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 Qrfpr.

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

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MGI Allele Allele Type Produced
Qrfprtm44906(L1L2_gt1) Targeting vectors
Qrfprtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Qrfprtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Qrfprtm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue

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