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.

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left fundus

16 Images

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
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum OMIM:168400
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy, Generalized osteopor... OMIM:277950
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Hip Dysplasia, Beukes Type
Kyphosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, ... ORPHA:2114
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal vertebral morphology, Restricted large joint m... ORPHA:163665
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Thickened cortex of long bones ORPHA:53697
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Stiff neck OMIM:616583
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... OMIM:604864
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... OMIM:609223
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture ORPHA:85193
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Bruck Syndrome 1
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Protrusio acetabuli, Joint lax... OMIM:259450
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Decreased hip abduction, Back pain, Osteoarthritis of the small joints of the ha... ORPHA:93311
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Scleroti... ORPHA:2790
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... OMIM:271630
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Reduced bone mineral density, Platyspondyly, Genu varum, Ir... OMIM:617974
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Short neck, Scoliosis, Decreased skull ossification ORPHA:3319
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Elbow flexion contracture, Knee flexion cont... OMIM:600175
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Joint laxity, Thoracolumbar kyphosis OMIM:236660
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis OMIM:300718
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Distal joint laxity OMIM:616471
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Abnormality of the vertebral column, Increased bone mineral density OMIM:602475
Dysspondyloenchondromatosis
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Spondylosis, Cervical
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Coronal cleft vertebrae, Coarse metaphyseal trabeculariza... ORPHA:1952
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Osteopenia, Scoliosis, Biconcave vertebral bodies, Vertebral wedging OMIM:301014
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones OMIM:618392
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Platyspondyly, Genu varum, Flat acetabular roof, Vertebral... OMIM:617719
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint l... OMIM:130060
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Wormian b... ORPHA:2771
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis, Osteoporosis OMIM:618234
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality of the ank... ORPHA:2619
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the fi... OMIM:313420
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Wormia... OMIM:259440
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Kyphoscoliosis, Arthrogryposis multiplex congenita OMIM:212540
Metatropic Dysplasia
Joint stiffness, Kyphosis, Coarse metaphyseal trabecularization, Camptodactyly of finger, Scolios... ORPHA:2635
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... OMIM:610967
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Scoliosis, Abnormality of the humeroulnar joint ORPHA:1570
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Kyphoscoliosis, Elbow ankylosis, Short neck, Abnormal vertebral morpholog... ORPHA:96183
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint laxity, Verte... OMIM:613982
Weismann-Netter Syndrome
Horizontal sacrum, Kyphosis, Scoliosis, Calvarial hyperostosis OMIM:112350
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypoplastic acetabulae OMIM:230650
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short neck ORPHA:2015
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis, Limitation of joint mobility, Congenital foot contractures ORPHA:3454
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis ORPHA:1802
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... OMIM:203500
Kuskokwim Syndrome
Joint stiffness, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the vertebral bodies ORPHA:1149
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scoliosis, Absent... OMIM:601344
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Congenital bilateral hip dislocation ORPHA:85288
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cubitus valgus, Joint hyperflexibility ORPHA:1875
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Foot acroosteolysis, Abnormality of the ankles, Wormian bones, Hype... ORPHA:970
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Short neck, Vertebral clefting OMIM:608681
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis OMIM:300844
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Kyphoscoliosis, Joint swelling, Joint contracture of the hand, Osteoarthritis, C... OMIM:208230
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Flynn-Aird Syndrome
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Increased bone den... OMIM:136300
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hip dislocation, Scoliosis OMIM:300434
Greenberg Dysplasia
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... ORPHA:1426
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Shashi-Pena Syndrome
Kyphosis, Scoliosis, Osteoporosis OMIM:617190
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Abnormal ca... ORPHA:93284
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Flexion contracture OMIM:617977
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... OMIM:166600
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis OMIM:234250
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Costal cartilage calcification, Scoliosis,... OMIM:222600
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Osteopenia, Scoliosis, Biconcave vertebral bodies, Protrusio acetabuli, Joint lax... OMIM:610968
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Scoliosis ORPHA:1548
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifida occulta at S1, Abnormal vert... OMIM:102510
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Flexion contracture, Congenital hip dislocation, Scoliosis, Arthrogryposis multiplex co... OMIM:618291
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... OMIM:184100
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Synostosis of joints, Ectopic ossification in ligament tissue, Abnormal vertebra... ORPHA:337
Sillence Syndrome
Back pain, Intervertebral disc degeneration, Platyspondyly, Scoliosis, Camptodactyly, Abnormal ve... ORPHA:3168
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis OMIM:612847
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Scoliosis, Hyperlordosis, Reduced bone mineral density ORPHA:262
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Kyphosis, Reduced bone mineral density, Biconcave flattened vertebrae, Scoli... OMIM:166220
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Kyphosis, Beaking of vertebral bodies, Hypoplastic acetab... OMIM:607326
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Kyphosis, Wide anterior fontanel, Decreased calvarial ossification, Biconcav... OMIM:259420
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Kyphosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumb... OMIM:313400
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Platyspondyly, Scoliosis,... OMIM:614856
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis, Hip dislocation OMIM:616756
Metatropic Dysplasia
Enlarged joints, Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Platyspon... OMIM:156530
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Joint hyperflexibility ORPHA:319199
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, In... ORPHA:289176
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Genu varum, ... OMIM:600785
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Osteopenia, Scoliosis, Increased susceptibility to fractures OMIM:615066
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis, Joint laxity OMIM:248760
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis, Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Genu valgum, Generalized bone demineralization, Decr... ORPHA:3101
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Wormian bones, Thin bony cortex, Multiple smal... OMIM:619795
Sprengel Deformity
Hemivertebrae, Cervical segmentation defect, Scoliosis, Spina bifida occulta OMIM:184400
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Scoliosis, Reduced bone mineral density ORPHA:2617
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Laryngotracheomalacia, Delayed epiphyseal ossification, Kyphosis, Kyphoscoliosis, Generalized joi... ORPHA:93360
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Kyphosis, Lumbar hyperlordosis, Coronal cleft vertebrae, Increas... ORPHA:93314
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Increased laxity of fingers, Flexion contracture, Short neck, Scoliosi... ORPHA:75840
Widow'S Peak Syndrome
Hip osteoarthritis, Kyphosis, Arthralgia/arthritis, Recurrent patellar dislocation OMIM:314570
Sandhoff Disease
Kyphosis ORPHA:796
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process OMIM:612913
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnormality of the cervical spine ORPHA:48431
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Knee flexion contracture, Achilles tendon co... OMIM:615290
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Beaking of vertebral bodies, Kyphoscoliosis, Dislocated radial head, Platyspondyly, Scoliosis, Li... ORPHA:93359
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Flexion contracture, Short neck, Scoliosis, Arthrogryposis multiplex congenita ORPHA:178148
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis OMIM:126550
Rhizomelic Syndrome, Urbach Type
Kyphosis, Wide anterior fontanel, Short neck, Abnormal form of the vertebral bodies, Abnormality ... ORPHA:3098
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Kyphosis, Kyphoscoliosis, Joint contracture of the hand, Flexion con... ORPHA:536516
Acrofacial Dysostosis, Palagonia Type
Abnormal vertebral morphology, Hypoplasia of the odontoid process, Scoliosis, Spina bifida occult... OMIM:601829
Myofibrillar Myopathy 10
Kyphosis, Flexion contracture of finger, Elbow flexion contracture, Knee flexion contracture, Ank... OMIM:619040
Arthrogryposis, Distal, Type 4
Kyphosis, Osteopenia, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly, Lumbar scoliosi... OMIM:609128
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility OMIM:614898
Mucolipidosis Iii Gamma
Kyphosis, Joint stiffness, Short neck, Scoliosis, Hyperlordosis, Genu valgum OMIM:252605
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Prominent metopic ridge, Scoliosis ORPHA:85317
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Kyphosis, Lumbar hyperlordosis, Beaking o... OMIM:177170
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Brachyolmia Type 3
Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Weismann-Netter Syndrome
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis, Joint hyperflexibility, Shoulder dislocation ORPHA:2181
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Platyspondyly, Wormian bones, Thin bony cortex OMIM:619638
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes OMIM:301900
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Kyphoscoliosis, Massively thickened long bone cortices OMIM:122900
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Intervertebral disc degeneration, Scoliosis, Knee osteoarthritis OMIM:619656
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Reduced bone mineral density, Short neck, Spina bifida occulta, Genu valgum ORPHA:2983
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Joint subluxation, Hyperextensibility of the finger joints, Scoliosis, Wormian bones, H... OMIM:617821
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Vertebral wedging, Genu valgum OMIM:255710
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Joubert Syndrome 18
Kyphoscoliosis, Joint laxity, Camptodactyly OMIM:614815
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Scoliosis, Osteoporosis, Vertebral compression fracture OMIM:616507
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Kyphosis, Wide anterior fontanel, Osteopenia, Decreased calvarial ossificati... OMIM:610915
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Flexion contracture, Scoliosis, Arthrogr... OMIM:618484
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture OMIM:618237
Diastrophic Dysplasia
Joint stiffness, Kyphosis, Joint dislocation, Increased bone mineral density, Camptodactyly of fi... ORPHA:628
Frank-Ter Haar Syndrome
Kyphosis, Joint stiffness, Beaking of vertebral bodies, Genu recurvatum, Camptodactyly of finger,... ORPHA:137834
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Flexion contracture, Joint hypermobility OMIM:616470
Geroderma Osteodysplastica
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Bico... ORPHA:2078
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Delayed ossification of carpal bones, Short neck, Platyspondyly,... OMIM:184252
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Delayed calcaneal ossification, Short n... OMIM:183900
Mucopolysaccharidosis, Type Iva
Kyphosis, Large elbow, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Osteoporo... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Squared-off platyspondyly, Narrow vertebral interpedicular dista... ORPHA:93352
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Reduced bone m... ORPHA:94068
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Widely patent fonta... OMIM:600081
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... ORPHA:93346
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Lopes-Maciel-Rodan Syndrome
Kyphosis, Ankle clonus, Scoliosis OMIM:617435
Joint Laxity, Short Stature, And Myopia
Osteopenia, Kyphoscoliosis, Short neck OMIM:617662
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Sialidosis Type 2
Kyphosis, Osteoporosis, Flexion contracture ORPHA:87876
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Short neck, Scoliosis, Arthrogryposis multiplex congenita OMIM:611890
Mucopolysaccharidosis, Type Ivb
Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Ulnar deviation of the wrist, Hyperlordosis, Ge... OMIM:253010
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger ORPHA:1883
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Flexion contracture, Scoliosis, Abnormal form of the vertebral b... ORPHA:263463
Geroderma Osteodysplasticum
Irregular vertebral endplates, Recurrent fractures, Beaking of vertebral bodies, Kyphoscoliosis, ... OMIM:231070
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Kyphosis, Hyperextensibility of the finger joints, Congenital hi... OMIM:619797
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Patterson Pseudoleprechaunism Syndrome
Joint swelling, Kyphoscoliosis, Cervical platyspondyly, Ovoid thoracolumbar vertebrae, Irregular ... OMIM:169170
Crisponi Syndrome
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis, Limitation of joint mobility ORPHA:1545
Clark-Baraitser syndrome
Kyphosis, Genu recurvatum, Scoliosis, Genu valgum, Joint laxity OMIM:300602
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Congenital hip dislocation, Scolio... OMIM:300280
Flynn-Aird Syndrome
Kyphosis, Joint stiffness, Bone cyst, Scoliosis ORPHA:2047
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Cole-Carpenter Syndrome 2
Kyphosis, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormian bones, Lambdoidal craniosy... OMIM:616294
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... ORPHA:582
Sjögren-Larsson Syndrome
Kyphosis, Joint stiffness, Scoliosis ORPHA:816
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Camptodactyly of finger, Short neck, Osteoporosis, Flexion contrac... ORPHA:3409
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Atkin-Flaitz Syndrome
Kyphosis, Genu recurvatum, Scoliosis, Genu valgum, Joint laxity OMIM:300431
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Ankle clonus, Scoliosis, Flexion contracture OMIM:609541
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Short neck, Kyphosis, Hyperlordosis ORPHA:2522
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Scoliosis, Arthritis, Osteolysis, Hyperostosis, Craniofacial osteosclerosis, Abnor... ORPHA:324964
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Flexion contracture, Hyperlordosis OMIM:255200
Desbuquois Dysplasia 1
Kyphosis, Advanced ossification of carpal bones, Joint dislocation, Osteoarthritis, Short neck, P... OMIM:251450
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Limited elbow extension OMIM:180870
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebral column OMIM:276950
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Alpha-Mannosidosis
Kyphosis, Short neck, Scoliosis, Synostosis of joints, Arthritis, Craniofacial hyperostosis ORPHA:61
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Osteopenia, Scoliosis, Osteoporosis, Bicoronal synostosis, Joint hypermobility OMIM:619718
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis, Osteoporosis, Flexion contracture OMIM:615381
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Osteoarthritis, Platys... OMIM:108300
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Joint contracture of the hand, Scoliosis, Joint contracture of the 5th finger, Arthrogr... ORPHA:352490
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis OMIM:615761
Spondyloarthropathy, Susceptibility To, 1
Kyphosis, Oligoarthritis, Back pain, Hip osteoarthritis, Sacroiliac arthritis, Enthesitis OMIM:106300
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Spinal rigidity, Increased laxity of fingers, Flexion contracture, Scoliosis, Hyperexte... OMIM:254090
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Ankle clonus, Scoliosis OMIM:614409
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Kyphosis, Platyspondyly OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, J... ORPHA:2050
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Spinal rigidity OMIM:615084
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Kyphoscoliosis OMIM:227250
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:615834
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Widely patent fonta... OMIM:264700
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Becker Nevus Syndrome
Kyphosis, Scoliosis, Spina bifida occulta ORPHA:64755
Alg1-Cdg
Kyphosis, Scoliosis, Limitation of joint mobility ORPHA:79327
Dysostosis, Stanescu Type
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Sco... ORPHA:1798
Progressive Non-Infectious Anterior Vertebral Fusion
Joint stiffness, Kyphosis, Spinal rigidity, Proximal radio-ulnar synostosis, Hemivertebrae, Abnor... ORPHA:2062
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Short neck, Synostosis of carpal bones, Scoliosis ORPHA:3191
Fountain Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta, Coarse metaphys... ORPHA:3219
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Genu varum, Hyperlordosis,... ORPHA:171436
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Wide cranial sutures, Genu... ORPHA:289157
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Kyphosis, Osteoporosis OMIM:219080
Achondroplasia
Spinal canal stenosis, Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Hip joint hypermob... ORPHA:15
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Kyphosis, Scoliosis, Genu recurvatum OMIM:609008
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Widely patent fonta... OMIM:277440
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis OMIM:610475
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Camptodactyly of finger, Short neck, Scoliosis, Abnormal... ORPHA:2311
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Lumbar hyperlordosis, Reduced bone mineral density, Biconvex vertebra... ORPHA:93315
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Thanatophoric Dysplasia
Kyphosis, Joint stiffness, Platyspondyly, Abnormal sacroiliac joint morphology, Joint hyperflexib... ORPHA:2655
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Mucopolysaccharidosis Type 6
Joint stiffness, Kyphosis, Short neck, Genu valgum, Ovoid vertebral bodies ORPHA:583
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis OMIM:128100
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Lumbar hyperlordosis, Platyspondyly, Wide anterior fontanel OMIM:616482
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... OMIM:300009
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:617143
Lateral Meningocele Syndrome
Kyphosis, Prominent metopic ridge, Short neck, Scoliosis, Abnormal form of the vertebral bodies, ... ORPHA:2789
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Hip dislocation, Scoliosis ORPHA:464282
Dyggve-Melchior-Clausen Disease
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Short neck, Multicentric ossificatio... OMIM:223800
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Vertebral segmentation defect, Joint stiffness, Kyphosis, Synostosis of carpal bones, Scoliosis, ... ORPHA:1005
Mucopolysaccharidosis, Type Vii
Joint stiffness, Kyphosis, Flexion contracture, Anterior beaking of lumbar vertebrae, Platyspondy... OMIM:253220
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98855
Marinesco-Sjogren Syndrome
Kyphosis, Cubitus valgus, Scoliosis, Flexion contracture OMIM:248800
Gaucher Disease Type 1
Kyphosis, Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteol... ORPHA:77259
Gm1-Gangliosidosis, Type I
Kyphosis, Joint stiffness, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Short neck,... OMIM:230500
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Joint hyperflexibility, Limitation of joint mobility ORPHA:93274
Wieacker-Wolff Syndrome
Kyphosis, Congenital foot contractures, Short neck, Scoliosis, Camptodactyly, Hyperlordosis, Arth... OMIM:314580
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Short neck, Biconcave vertebral bodies, Scoliosis, Wormian bon... OMIM:130720
X-Linked Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98863
Ruvalcaba Syndrome
Kyphosis, Synostosis of carpal bones, Scoliosis, Abnormality of vertebral epiphysis morphology, A... ORPHA:3121
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Irregular vertebral endplates, Hip contracture, Kyphosis, Bone cyst, Flexion contracture, Calcifi... ORPHA:3042
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Pycnodysostosis
Kyphosis, Spondylolisthesis, Increased bone mineral density, Coronal craniosynostosis, Spondyloly... ORPHA:763
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Kyphosis, Flexion contracture, Short neck, Scoliosis, Hip dislocation, Limited s... OMIM:301041
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:3109
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Kyphosis, Increased bone mineral density, Osteopenia, Osteoporosis, Ankylosis OMIM:239000
Aneurysm-Osteoarthritis Syndrome
Spondylolisthesis, Osteoarthritis of the small joints of the hand, Intervertebral disc degenerati... ORPHA:284984
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis OMIM:616449
Trisomy 9P
Kyphosis, Short neck, Scoliosis, Sacral dimple ORPHA:236
Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98853
4Q21 Microdeletion Syndrome
Kyphosis, Short neck, Scoliosis ORPHA:238750
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:615547
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis OMIM:610489
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Biconcave vertebral bodies, Osteoporosis, Vertebral compression fracture OMIM:219090
3M Syndrome
Kyphosis, Increased vertebral height, Short neck, Scoliosis, Congenital hip dislocation, Hyperlor... ORPHA:2616
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Increased suscep... ORPHA:2769
Pelizaeus-Merzbacher Disease
Kyphosis, Joint stiffness, Scoliosis ORPHA:702
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Pterygium, Flexion contracture, Anterior clefting of ver... OMIM:265000
Mend Syndrome
Kyphosis OMIM:300960
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Genu valgum, Generalized bone demineralization, Intervertebral space narrowing, Elbow... OMIM:143095
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis ORPHA:324737
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Osteopenia, Scoliosis, Genu varum, Joint hyperflexibility ORPHA:2479
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck, Hip dislocation OMIM:608776
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Osteomyelitis, Flexion contracture of finger, Scoliosis, Camptodactyly ORPHA:88628
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Cdags Syndrome
Kyphosis, Coronal craniosynostosis, Delayed cranial suture closure, Sagittal craniosynostosis, La... OMIM:603116
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Kyphosis, Joint dislocation, Platyspondyly, Limited elbow extension, Camptodactyly, Hyperlordosis... OMIM:618019
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Prominent metopic ridge, Scoliosis ORPHA:261144
Hurler-Scheie Syndrome
Joint stiffness, Kyphosis, Contracture of the distal interphalangeal joint of the fingers, Campto... OMIM:607015
Harrod Syndrome
Kyphosis, Scoliosis, Joint hyperflexibility ORPHA:2115
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Joint laxity OMIM:300354
Holt-Oram Syndrome
Kyphosis, Joint stiffness, Scoliosis, Radioulnar synostosis ORPHA:392
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Marden-Walker Syndrome
Kyphosis, Wide anterior fontanel, Joint contracture of the hand, Short neck, Scoliosis, Camptodac... OMIM:248700
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Platyspondyly, Osteoporosis, Pathologic fracture, Increased susceptibility to fra... OMIM:259770
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Kyphosis, Tracheomalacia, Short neck, Sc... ORPHA:140
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis, Hip subluxation OMIM:619557
Thanatophoric Dysplasia Type 1
Kyphosis, Joint stiffness, Wide anterior fontanel, Platyspondyly, Abnormal sacroiliac joint morph... ORPHA:1860
Spondyloperipheral Dysplasia
Kyphosis, Acetabular spurs, Platyspondyly, Limited elbow extension, Flat acetabular roof OMIM:271700
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Kyphoscoliosis, Thoracic scoliosis, Joint dislocation, Knee dislocation, Osteopenia, Sh... ORPHA:536532
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Trisomy 20P
Vertebral segmentation defect, Kyphosis, Reduced bone mineral density, Camptodactyly of finger, P... ORPHA:261318
Basilar Impression, Primary
Kyphoscoliosis, Short neck OMIM:109500
Atypical Werner Syndrome
Increased bone mineral density, Reduced bone mineral density, Intervertebral disc degeneration, C... ORPHA:79474
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Ankle clonus, Scoliosis OMIM:211530
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... ORPHA:1652
Gm1 Gangliosidosis
Joint stiffness, Kyphosis, Camptodactyly of finger, Platyspondyly, Scoliosis, Abnormal form of th... ORPHA:354
Cono-Spondylar Dysplasia
Kyphosis, Short neck, Scoliosis ORPHA:420794
19P13.12 Microdeletion Syndrome
Kyphosis, Craniosynostosis, Short neck, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Hurler Syndrome
Joint stiffness, Kyphosis, Flexion contracture, Calvarial hyperostosis, Short neck, Biconcave ver... OMIM:607014
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Camptodactyly of finger, Scoliosis, Bicoronal synostosis, Joint hypermobility OMIM:619951
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Hip contracture, Finger joint hypermobility, Scoliosis, Genu valgum, Elbow flexion cont... OMIM:618493
Jaberi-Elahi Syndrome
Kyphosis, Joint stiffness, Scoliosis, Joint hypermobility OMIM:617988
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Ankle clonus, Scoliosis ORPHA:88644
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Genu recurvatum, Joint laxity, Scoliosis ORPHA:364028
Acro-Renal-Mandibular Syndrome
Kyphosis, Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Hip dislocation ORPHA:958
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... ORPHA:1724
Frank-Ter Haar Syndrome
Kyphosis, Wide anterior fontanel, Kyphoscoliosis, Osteopenia, Delayed cranial suture closure, Ost... OMIM:249420
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Cockayne Syndrome Type 2
Kyphosis, Scoliosis, Flexion contracture ORPHA:90322
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Osteoporosis, Limited elbow extension, Genu valgum, Joint laxity, Persis... OMIM:304150
15Q24 Microdeletion Syndrome
Kyphosis, Joint laxity, Scoliosis ORPHA:94065
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Scoliosis, Hip dislocation, Vertebral fusion, Joint hype... ORPHA:96169
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Osteopenia, Synostosis involving bones of the upper limbs, Genu varum, Abnorma... ORPHA:221016
Loeys-Dietz Syndrome 3
Spondylolisthesis, Craniosynostosis, Intervertebral disc degeneration, Osteoarthritis, Scoliosis,... OMIM:613795
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Camptodactyly of finger, Short neck, Scoliosis, Cubitus valgus, Joint hyperflexibility ORPHA:85293
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Scoliosis, Hyperlordosis, Thoracolumbar scoliosis, Genu valgum OMIM:618443
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Lowe Oculocerebrorenal Syndrome
Kyphosis, Joint contracture of the hand, Camptodactyly of finger, Platyspondyly, Osteomalacia, Sc... OMIM:309000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Craniosynostosis, Cervical instab... ORPHA:508533
Distal Tetrasomy 15Q
Kyphosis, Flexion contracture, Craniosynostosis, Scoliosis, Camptodactyly ORPHA:314588
Emanuel Syndrome
Kyphosis, Congenital hip dislocation, Scoliosis OMIM:609029
Rothmund-Thomson Syndrome
Reduced bone mineral density, Osteopenia, Aplasia/Hypoplasia of the patella, Abnormal trabecular ... ORPHA:2909
Hajdu-Cheney Syndrome
Recurrent fractures, Kyphosis, Osteopenia, Short neck, Biconcave vertebral bodies, Osteoporosis, ... ORPHA:955
Schwartz-Jampel Syndrome
Joint stiffness, Hip contracture, Kyphosis, Increased bone mineral density, Spinal rigidity, Abno... ORPHA:800
Trisomy 13
Kyphosis, Scoliosis ORPHA:3378
3C Syndrome
Kyphosis, Hemivertebrae, Short neck, Scoliosis ORPHA:7
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Delayed cranial suture ... ORPHA:2658
Classic Homocystinuria
Recurrent fractures, Joint stiffness, Kyphosis, Scoliosis, Osteoporosis, Genu valgum ORPHA:394
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Kyphosis, Hemivertebrae, Short neck, Scoliosis OMIM:618223
Occipital Horn Syndrome
Kyphosis, Osteopenia, Delayed cranial suture closure, Platyspondyly, Osteomalacia, Osteoporosis, ... ORPHA:198
Rothmund-Thomson Syndrome Type 1
Osteopenia, Genu varum, Abnormal trabecular bone morphology, Patellar aplasia, Patellar hypoplasi... ORPHA:221008
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Cleidocranial Dysplasia 1
Kyphosis, Spondylolisthesis, Increased bone mineral density, Spondylolysis, Scoliosis, Wormian bo... OMIM:119600
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Craniofacial ... ORPHA:192
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Joint laxity, Scoliosis, Hyperlordosis OMIM:162300
Micro Syndrome
Kyphosis, Joint stiffness, Scoliosis ORPHA:2510
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Genu varum ORPHA:1969
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
Noonan Syndrome 14
Kyphosis, Short neck, Cubitus valgus, Limited elbow extension OMIM:619745
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Craniosynostosis, Scoliosis, Contracture of the proximal interphalangeal joint of the 4... OMIM:618050
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Wide anterior fontanel, Coronal craniosynostosis, Delayed cranial suture closure, Tarsa... ORPHA:85199
Microphthalmia, Lenz Type
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:568
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Kyphosis, Osteopenia, Short neck, Scoliosis, Prominent protruding coccyx, Prominent coccyx, Joint... OMIM:300966
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis, Osteopenia, Osteoporosis, Contracture of the proximal interphalan... ORPHA:2232
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Alstrom Syndrome
Kyphosis, Scoliosis, Hyperostosis frontalis interna OMIM:203800
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Camptodactyly of finger, Prominent metopic ridge, Scoliosis, Arthrogryposis multiplex c... ORPHA:2215
Cowden Syndrome 5
Kyphosis, Scoliosis OMIM:615108
Camurati-Engelmann Disease
Kyphosis, Cortical thickening of long bone diaphyses, Abnormality of the vertebral column, Scolio... ORPHA:1328
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Mucopolysaccharidosis, Type Ii
Tracheobronchomalacia, Kyphosis, Short neck, Flexion contracture OMIM:309900
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Mgat2-Cdg
Kyphosis, Osteopenia, Scoliosis ORPHA:79329
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Prominent metopic ridge, Scoliosis, Joint hypermobility, Hip disloca... OMIM:610443
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Kyphosis, Craniosynostosis OMIM:616914
Cowden Syndrome 6
Kyphosis, Scoliosis OMIM:615109
Alexander Disease
Kyphosis, Osteopenia, Short neck, Scoliosis, Hyperlordosis ORPHA:58
Mucolipidosis Type Ii
Hip contracture, Kyphosis, Craniosynostosis, Decreased movement range in interphalangeal joints, ... ORPHA:576
Ramon Syndrome
Juvenile rheumatoid arthritis, Kyphosis, Scoliosis OMIM:266270
16P13.2 Microdeletion Syndrome
Kyphosis, Scoliosis, Flexion contracture ORPHA:500055
Osteogenesis Imperfecta
Osteopenia, Biconcave vertebral bodies, Genu valgum, Abnormal cortical bone morphology, Flexion c... ORPHA:666
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Flexion contracture, Osteopenia, Scoliosis, Osteoporosis ORPHA:398069
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Kyphosis, Platyspondyly, Arthritis ORPHA:1855
Spondyloepimetaphyseal Dysplasia, X-Linked
Kyphosis, Lumbar hyperlordosis, Delayed ossification of carpal bones, Anterior wedging of T11, Pl... OMIM:300106
Digeorge Syndrome
Intervertebral disc degeneration, Scoliosis, Patellar dislocation, Pilonidal sinus OMIM:188400
2P15P16.1 Microdeletion Syndrome
Kyphosis, Camptodactyly of finger, Prominent metopic ridge, Scoliosis, Patellar dislocation ORPHA:261349
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Joint laxity, Scoliosis, Hyperlordosis OMIM:617011
2Q31.1 Microdeletion Syndrome
Vertebral segmentation defect, Kyphosis, Camptodactyly of finger, Short neck, Scoliosis, Prominen... ORPHA:251014
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Poland Syndrome
Vertebral segmentation defect, Kyphosis, Reduced bone mineral density, Hemivertebrae, Short neck,... ORPHA:2911
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Stickler Syndrome
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Osteoarthritis,... ORPHA:828
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Kyphosis, Hemivertebrae, Kyphoscoliosis, Scoliosis OMIM:301040
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Short neck, Metopic synostosis, Joint hyperflexibi... ORPHA:77301
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261250
Cohen Syndrome
Kyphosis, Scoliosis, Genu valgum, Cubitus valgus, Joint hyperflexibility ORPHA:193
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Kyphosis, Flexion contracture OMIM:212065
Aspartylglucosaminuria
Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Spondylolysis, Platyspondyly, Scoliosis... OMIM:208400
Prader-Willi Syndrome
Kyphosis, Osteopenia, Scoliosis, Osteoporosis, Genu valgum OMIM:176270
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:476126
Weaver Syndrome
Kyphosis, Joint contracture of the hand, Scoliosis, Limited elbow extension, Camptodactyly, Limit... OMIM:277590
Cowden Syndrome 1
Kyphosis, Scoliosis OMIM:158350
Marfan Syndrome
Kyphosis, Spondylolisthesis, Osteopenia, Scoliosis, Osteoporosis, Limited elbow movement, Protrus... ORPHA:558
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Knee flexion contracture OMIM:619708
Marshall-Smith Syndrome
Recurrent fractures, Decreased hip abduction, Kyphoscoliosis, Kyphosis, Thoracic scoliosis, Atlan... OMIM:602535
Wolf-Hirschhorn Syndrome
Kyphosis, Abnormality of the vertebral column, Scoliosis, Osteoporosis, Abnormal form of the vert... ORPHA:280
Marden-Walker Syndrome
Joint stiffness, Kyphosis, Camptodactyly of finger, Scoliosis, Abnormal form of the vertebral bod... ORPHA:2461
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Kyphosis, Short neck, Scoliosis, Prominent crus of helix, Genu valgum, Elbow fle... OMIM:619194
X-Linked Intellectual Disability, Snyder Type
Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Camptodactyly ORPHA:3063
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Short neck, Scoliosis, Camptodactyly, Sacral dimple OMIM:616894
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Metopic synostosis, Joint laxity, Limitation of j... ORPHA:457359
Wrinkly Skin Syndrome
Kyphosis, Wide anterior fontanel, Osteopenia, Delayed cranial suture closure, Congenital hip disl... OMIM:278250
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Kyphosis, Contractures of the large joints ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Contractures of the large joints OMIM:617527
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Contracture of the proximal interphalangeal joint of the 3rd finger, Scoliosis ORPHA:464738
Cerebrocostomandibular Syndrome
Kyphosis, Tracheomalacia ORPHA:1393
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Autosomal Recessive Robinow Syndrome
Vertebral segmentation defect, Kyphosis, Camptodactyly of finger, Short neck, Synostosis of carpa... ORPHA:1507
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis OMIM:619005
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Flexion contracture of finger, Scoliosis, Abnormality of the cervical spine, Ankle flex... ORPHA:464311
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Ankle clonus ORPHA:171629
Zttk Syndrome
Kyphosis, Flexion contracture, Craniosynostosis, Hemivertebrae, Scoliosis, Joint hypermobility OMIM:617140
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Multiple joint contractures, Scoliosis, Abnormality of the cervical spine ORPHA:464306
Cowden Syndrome
Kyphosis, Bone cyst, Scoliosis ORPHA:201
Koolen-De Vries Syndrome Due To A Point Mutation
Kyphosis, Spondylolisthesis, Joint dislocation, Tracheomalacia, Craniosynostosis, Cervical spinal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Kyphosis, Spondylolisthesis, Joint dislocation, Tracheomalacia, Craniosynostosis, Cervical spinal... ORPHA:363958
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Joint stiffness, Kyphosis, Joint swelling, Platyspondyly, Osteomalacia, Scol... ORPHA:534
Mend Syndrome
Kyphosis, Wide anterior fontanel, Sacral dimple ORPHA:401973
Cockayne Syndrome B
Kyphosis, Ivory epiphyses of the phalanges of the hand, Osteoporosis, Limitation of joint mobility OMIM:133540
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Kyphoscoliosis... OMIM:300967
Non-Specific Syndromic Intellectual Disability
Kyphosis, Scoliosis, Joint hypermobility ORPHA:528084
Primrose Syndrome
Irregular vertebral endplates, Hip contracture, Kyphosis, Flexion contracture, Reduced bone miner... OMIM:259050
Wolf-Hirschhorn Syndrome
Kyphosis, Abnormal sternal ossification, Scoliosis, Abnormal form of the vertebral bodies, Radiou... OMIM:194190
Cockayne Syndrome A
Hip contracture, Ivory epiphyses of the phalanges of the hand, Kyphosis, Limitation of joint mobi... OMIM:216400
17Q11 Microdeletion Syndrome
Kyphosis, Osteopenia, Beaking of vertebral bodies T12-L3, Abnormality of the vertebral column, Sc... ORPHA:97685
Coffin-Lowry Syndrome
Kyphosis, Hyperextensibility of the finger joints, Scoliosis, Delayed closure of the anterior fon... OMIM:303600
Cockayne Syndrome Type 3
Kyphosis, Scoliosis, Flexion contracture ORPHA:90324
Proteus Syndrome
Joint stiffness, Kyphosis, Calvarial hyperostosis, Craniosynostosis, Scoliosis, Abnormal form of ... ORPHA:744
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Kyphosis, Scoliosis, Genu varum, Genu valgum ORPHA:636
Acromegaly
Spinal canal stenosis, Kyphosis, Osteoarthritis, Joint swelling ORPHA:963
Somatomammotropinoma
Spinal canal stenosis, Kyphosis, Osteoarthritis, Joint swelling ORPHA:314769
Smith-Lemli-Opitz Syndrome
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hip dislocation ORPHA:818
Turner Syndrome Due To Structural X Chromosome Anomalies
Kyphosis, Reduced bone mineral density, Osteopenia, Short neck, Scoliosis, Osteoporosis, Genu val... ORPHA:99413
Turner Syndrome
Kyphosis, Reduced bone mineral density, Osteopenia, Short neck, Scoliosis, Osteoporosis, Genu val... ORPHA:881
Mosaic Monosomy X
Kyphosis, Reduced bone mineral density, Osteopenia, Short neck, Scoliosis, Osteoporosis, Genu val... ORPHA:99228
Monosomy X
Kyphosis, Reduced bone mineral density, Osteopenia, Short neck, Scoliosis, Osteoporosis, Genu val... ORPHA:99226
Williams Syndrome
Vertebral segmentation defect, Joint stiffness, Kyphosis, Increased bone mineral density, Osteope... ORPHA:904
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Kyphosis, Osteomyelitis, Back pain, Scoliosis, Genu valgum, Abnormality of the curvature of the v... OMIM:619475
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Camptodactyly of finger, Abnormality of the vertebral column, Platyspondyly, Abnormal v... ORPHA:2273
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Kyphosis, Osteochondrosis, Scoliosis, Sacral dimple ORPHA:268261
1P36 Deletion Syndrome
Spinal canal stenosis, Joint stiffness, Kyphosis, Delayed cranial suture closure, Camptodactyly o... ORPHA:1606
Cockayne Syndrome
Kyphosis, Congenital contracture, Scoliosis, Contractures of the large joints ORPHA:191
Coffin-Siris Syndrome 1
Kyphosis, Dislocated radial head, Aplasia/Hypoplasia of the patella, Scoliosis, Spina bifida occu... OMIM:135900
Sotos Syndrome
Hip contracture, Kyphosis, Flexion contracture, Craniosynostosis, Scoliosis, Bilateral camptodact... ORPHA:821
Yunis-Varon Syndrome
Kyphosis, Decreased calvarial ossification, Congenital hip dislocation, Wide cranial sutures, Del... OMIM:216340
Viss Syndrome
Kyphosis, Butterfly vertebrae, Generalized joint laxity, Recurrent joint dislocation, Scoliosis, ... OMIM:619472
Branchiooculofacial Syndrome
Kyphosis, Short neck, Hyperlordosis, Elbow flexion contracture, Fusion of middle ear ossicles OMIM:113620
Alström Syndrome
Lumbar scoliosis, Kyphosis, Thoracic scoliosis, Hyperostosis frontalis interna 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
Qrfprtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Qrfprtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Qrfprtm44906(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Qrfprtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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