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Gene: Nrarp MGI:1914372

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Notch-regulated ankyrin repeat protein
Synonyms:
2700054M22Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nrarp 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 Nrarp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect OMIM:618845
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Poland Syndrome
Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly OMIM:173800
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Retinitis Pigmentosa 29
Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... ORPHA:3268
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema ORPHA:3456
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... OMIM:178110
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... OMIM:113000
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... ORPHA:313892
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Kyphomelic Dysplasia
Anterior rib cupping, Joint stiffness, Missing ribs, Lateral clavicle hook, Limitation of joint m... ORPHA:1801
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... ORPHA:2522
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... ORPHA:2311
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Radioulnar synostosis, Vertebral... ORPHA:1988
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:1354
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2790
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis ORPHA:1445
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Scoliosis ORPHA:1570
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus... OMIM:259440
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... ORPHA:2332
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Cayler Cardiofacial Syndrome
Patent ductus arteriosus OMIM:125520
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal... OMIM:617405
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Cerebrofaciothoracic Dysplasia
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... ORPHA:1394
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Optic nerve hypoplasia, Short neck, Hemivertebrae... OMIM:615583
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... OMIM:601344
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Elbow dislocation, Lateral clavicle hook, Anterior vertebral fusion, Radioulnar s... OMIM:171480
Spondylometaphyseal Dysplasia, Type A4
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... OMIM:609052
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal bone ossification, Abnormal ... ORPHA:93315
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, A... ORPHA:915
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... ORPHA:3027
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Optic nerve hypoplasia, Missing ribs, Hemivertebrae, Rib f... OMIM:206900
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... OMIM:618395
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck... OMIM:272460
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Verteb... OMIM:611209
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Enlargement of ... OMIM:271650
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus ORPHA:1208
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of joint mobility, Rib f... ORPHA:2990
Frontometaphyseal Dysplasia 1
Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex... OMIM:305620
Metatropic Dysplasia
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... OMIM:156530
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... ORPHA:247691
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Th... OMIM:148050
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Irregular ossification of hand bones, H... OMIM:109400
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Aicardi Syndrome
Block vertebrae, Missing ribs, Optic disc coloboma, Optic atrophy, Rib fusion, Supernumerary ribs... ORPHA:50
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Optic disc coloboma, Optic atrophy, Hemivertebrae, R... OMIM:304050
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... OMIM:213980
Grant Syndrome
Joint dislocation, Abnormal rib morphology, Joint hyperflexibility, Narrow chest, Wormian bones, ... ORPHA:2097
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Pectus excavatum, Dislocate... OMIM:150250
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Metacarpophalangeal synostosis, Pr... ORPHA:3250
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... OMIM:618000
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Optic atrophy, Diap... OMIM:122860
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Abnormal vertebral morphology, Scoliosis ORPHA:261197
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Arnold-Chiari Malformation Type I
Stiff neck, Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Ab... ORPHA:268882
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Abnormality of the elbow, Limitation of joint mobility, Abnormal... ORPHA:1486
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor... OMIM:130720
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Abnormal thorax morphology, Abnormal vertebral morphology, Spina bifi... OMIM:102510
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... ORPHA:93267
Koolen-De Vries Syndrome
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... ORPHA:96169
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... ORPHA:3320
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Missing ... OMIM:268310
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... OMIM:609616
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri... ORPHA:168549
White Forelock With Malformations
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... ORPHA:2475
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Optic atrophy ORPHA:1513
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... ORPHA:263508
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal... OMIM:227330
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... ORPHA:2759
Femoral-Facial Syndrome
Limited elbow movement, Missing ribs, Humeroradial synostosis, Hemivertebrae, Absent vertebra, Li... OMIM:134780
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Ab... ORPHA:90652
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... OMIM:166210
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... OMIM:617952
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... ORPHA:628
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck ORPHA:1703
Atelosteogenesis, Type I
11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow dislocation, Bell-sha... OMIM:108720
Mucopolysaccharidosis Type 4
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... ORPHA:582
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Decreased calvarial ossific... OMIM:616229
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Flat acetabular roof, Posterior r... OMIM:608728
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... ORPHA:2319
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... ORPHA:2772
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra... OMIM:157800
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... ORPHA:392
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hip disloca... OMIM:610443
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... OMIM:259420
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspondyly, Posterior scalloping ... OMIM:619698
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthritis, Platyspondyly, Flared... OMIM:602111
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Elbow dislocation, Kyphosis, Pectus excavatum... ORPHA:1507
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... ORPHA:1145
Achondrogenesis Type 1B
Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, Narrow chest ORPHA:93298
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... OMIM:269250
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof OMIM:617159
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy... OMIM:253000
Ventricular Septal Defect 3
Patent ductus arteriosus OMIM:614432
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Rib fusion, Scoliosis ORPHA:97360
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs OMIM:300863
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Delayed skeletal maturation, Abnormal th... ORPHA:280
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Hypophosphatasia
Narrow chest, Abnormal rib morphology, Recurrent fractures, Craniosynostosis ORPHA:436
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... ORPHA:1488
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Pallister-Hall Syndrome
Radial head subluxation, Hemivertebrae, Rib fusion, Hip dislocation OMIM:146510
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Phaver Syndrome
Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral... ORPHA:2876
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... ORPHA:2050
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Optic atrophy, Hemivertebrae, Rib fusion, Cervic... OMIM:617140
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Wafer-thin ... OMIM:151210
Dyggve-Melchior-Clausen Disease
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... OMIM:223800
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Hypoplasia of the odontoid process, Abnormality of the vert... ORPHA:239
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... OMIM:616294
3M Syndrome
Scapular winging, Congenital hip dislocation, Hyperlordosis, Short neck, Increased vertebral heig... ORPHA:2616
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect ORPHA:3004
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Melnick-Needles Syndrome
Delayed cranial suture closure, Short thorax, Hip dislocation, Abnormal rib morphology, Osteolyti... ORPHA:2484
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal matur... OMIM:194190
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness OMIM:252920
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Short neck, Beaded ribs, Abnormal ... OMIM:200600
Atrial Septal Defect 2
Aortic regurgitation, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis OMIM:607941
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Barrel-shaped chest, Recurrent fractures, Multiple prenatal fractures, ... OMIM:610915
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula... OMIM:224300
Baller-Gerold Syndrome
Bicoronal synostosis, Optic nerve hypoplasia, Limited elbow movement, Sagittal craniosynostosis, ... OMIM:218600
Cenani-Lenz Syndrome
Elbow dislocation, Hip dislocation, Abnormal rib morphology, Abnormal form of the vertebral bodie... ORPHA:3258
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Optic nerve hypoplasi... ORPHA:508498
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Thoracic scoliosis, Multiple rib fractures, Generalized joint laxity, G... OMIM:613848
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... ORPHA:1834
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Myhre Syndrome
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... OMIM:139210
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal ... ORPHA:3068
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thoracic hypoplasia, Short neck, Thin... OMIM:228520
Antley-Bixler Syndrome
Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Abnormal rib mor... ORPHA:83
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect, Optic disc coloboma, Aganglionic megacolon ORPHA:959
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... ORPHA:958
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Decreased calvarial ossification, Craniosynostosis, Thin ribs OMIM:618265
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Joint stiffness ORPHA:3242
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... ORPHA:233
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Optic nerve hypoplasia, Thin ribs OMIM:614833
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs ORPHA:583
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness ORPHA:2167
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Accelerated skeletal matur... ORPHA:373
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... OMIM:253010
Brachytelephalangic Chondrodysplasia Punctata
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... ORPHA:79345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Duane-Radial Ray Syndrome
Aganglionic megacolon, Facial palsy, Fused cervical vertebrae, Shoulder dislocation, Scoliosis, S... OMIM:607323
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Kyphosis, Abnormal rib morphology, Short neck ORPHA:3082
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... OMIM:252600
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Limitation of joint mobility, Abnormal rib... ORPHA:96061
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Optic atrophy, Spinal canal... ORPHA:1606
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Decreased calvarial ossification, Pla... OMIM:620076
Apert Syndrome
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Optic nerve hypoplasia, Kyphoscoliosis, Sagittal craniosynostosis, Optic at... ORPHA:500150
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... OMIM:184253
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ... OMIM:617137
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Genu valgum, Irregular chond... OMIM:250420
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Wormian bones, Broad ribs ORPHA:85184
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly OMIM:193500
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platy... OMIM:618019
Apert Syndrome
Vertebral segmentation defect, Optic atrophy, Cervical C5/C6 vertebrae fusion ORPHA:87
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... ORPHA:93317
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... OMIM:215140
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Alagille Syndrome
Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vert... ORPHA:52
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Pectus carinatum, Genu valgum, Narrow chest, Acetabular spurs, Short ribs... OMIM:225500
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Optic atrophy, Abnormal rib m... ORPHA:3301
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Optic atrophy OMIM:616368
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Hemivertebrae, Finger symp... ORPHA:2911
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Optic disc pallor, Camptodactyly of finger, Delayed closure of the anterior fon... OMIM:607872
Pyknoachondrogenesis
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... ORPHA:3003
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... OMIM:211350
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Cleidocranial Dysplasia
Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Abnormal sacrum morphology, Sp... ORPHA:1452
X-Linked Hypophosphatemia
Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation... ORPHA:89936
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Patellar aplasia, Hip dislocation, Abnormal shoulder morphology, Fused cer... OMIM:274000
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus ORPHA:1455
Occipital Horn Syndrome
Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Capitate-ha... OMIM:304150
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, F... ORPHA:175
Trisomy 13
Kyphosis, Abnormal rib morphology, Optic atrophy, Narrow chest, Scoliosis ORPHA:3378
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Contracture of the distal interphalangeal joint of the fingers, Thin ribs, Cleft ... ORPHA:83617
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Radio-Renal Syndrome
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul... OMIM:610682
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ... ORPHA:93473
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ... ORPHA:887
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Elbow flexion contracture, Hemivertebrae, Hip... OMIM:200980
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca... OMIM:613458
Pallister-Hall Syndrome
Radial head subluxation, Hemivertebrae, Rib fusion, Hip dislocation, Distal arthrogryposis ORPHA:672
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness ORPHA:1300
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Schwartz-Jampel Syndrome
Short neck, Pectus carinatum, Wrist flexion contracture, Increased bone mineral density, Abnormal... ORPHA:800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Butterfly vertebrae OMIM:265380
3Q29 Microdeletion Syndrome
Pectus excavatum, Six lumbar vertebrae, Pectus carinatum ORPHA:65286
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Abnormal rib morphology, Missing ribs ORPHA:1647
Postaxial Acrofacial Dysostosis
Pectus excavatum, Supernumerary vertebrae OMIM:263750
Multiple Pterygium-Malignant Hyperthermia Syndrome
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Abnormal rib morpho... ORPHA:2215
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology, Osteomyelitis ORPHA:1163
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Monosomy 9Q22.3
Accelerated skeletal maturation, Short neck, Kyphosis, Pectus excavatum, Abnormal rib morphology,... ORPHA:77301
Trisomy 1Q
Short thorax, Abnormal rib morphology, Camptodactyly of finger ORPHA:261344
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebral ... ORPHA:95699
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Osteomalacia, Bone pain, Rickets, Osteolysis, Abnormal rib morpholo... ORPHA:249
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta ORPHA:488434
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... ORPHA:444077
Elsahy-Waters Syndrome
Pectus excavatum, Cervical C2/C3 vertebral fusion, Increased cup-to-disc ratio OMIM:211380
Craniofacial Microsomia 1
Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia OMIM:164210
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus OMIM:610338
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Pilonidal sinus, Aplasia/Hypoplasia involving the carpal bones, Short neck, ... OMIM:276820
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... ORPHA:581
Myhre Syndrome
Platyspondyly, Abnormal rib morphology, Joint stiffness ORPHA:2588
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Delayed skeletal... ORPHA:2554
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mineral d... ORPHA:667
Hereditary Acrokeratotic Poikiloderma
Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger ORPHA:2907
Monosomy 9P
Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormality of the vertebral c... ORPHA:261112
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Abnormal rib morphology, Radioulnar synostosis, Abnormal s... OMIM:192350
Trisomy 18
Camptodactyly of finger, Spina bifida, Delayed skeletal maturation, Anencephaly, Abnormal rib mor... ORPHA:3380
Ulbright-Hodes Syndrome
Short neck, Humeroradial synostosis, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin... ORPHA:3404
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Spina bifida, Meningocele, Abnormal rib morphology, ... ORPHA:991
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Kyphosis, Hip dislocation, Abnormal rib morph... ORPHA:534
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Short neck, Kyphosis, Optic atrophy, Hip dislocation, Abnormal form of the... ORPHA:818
Charge Syndrome
Facial palsy, Optic atrophy, Hemivertebrae, Abnormal rib morphology, Abnormality of bone mineral ... ORPHA:138
Kindler Epidermolysis Bullosa
Flexion contracture, Abnormal rib morphology, Camptodactyly of finger ORPHA:2908
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus excavatum, Pectus carinatum, Vertebral segmentation defect, Short sternum, Cervical ribs, ... OMIM:312870
Charge Syndrome
Down-sloping shoulders, Facial palsy, Radial head subluxation, Hemivertebrae, Abnormal rib morpho... OMIM:214800
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857

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 Nrarp

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 Nrarp.

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

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MGI Allele Allele Type Produced
Nrarptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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