Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
Synonyms:
SemD,  semaphorin III,  sema III,  collapsin-1,  Semad

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sema3a mutations

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

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

The table below shows human diseases associated to Sema3a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Anterior hypopituitarism, Obesity ORPHA:478
Brugada Syndrome
ORPHA:130
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
OMIM:614897

The table below shows human diseases predicted to be associated to Sema3a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormal cranial nerve morphology, Abnormality of the vertebral column, ... ORPHA:2345
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Situs inversus totalis, Rib fusion, Vertebral segmentation defect, Hemivertebrae, V... OMIM:613686
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Kyphosis, Abnormal hip bone morpho... ORPHA:2522
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Ventricular septal defect, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short ne... OMIM:214300
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Vertebral segmentation defect, Spin... ORPHA:1797
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, Skeletal... OMIM:305620
Femoral-Facial Syndrome
Hip dysplasia, Scoliosis, Short femur, Radioulnar synostosis, Aplasia/Hypoplasia of the corpus ca... ORPHA:1988
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy,... OMIM:253700
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scoliosis, EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial con... ORPHA:353
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Cerebral atro... OMIM:614261
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Abnormality of the ribs, Atrial septal defect, Narrow chest, Ven... ORPHA:1354
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Short neck, Pectus carinatum, Low back pain, Hemivertebrae, Vert... OMIM:122600
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Abnormal cardiac sept... ORPHA:3320
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Atrial septal defect, Agenesis of corpus callosum, Patent foramen ovale... OMIM:609053
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Anomalous pulmonary venous return, Finger synda... ORPHA:2311
Kniest Dysplasia
Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral wedging, Short thorax, Fl... ORPHA:485
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Hypothalamic hamartoma, Ventricular septal defect, Hypoplasia of the corpus... OMIM:206900
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Acetabular dysplasia, Nemaline bodies, Thor... OMIM:616549
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs, Microcephaly ORPHA:2435
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Clinodactyly, Syndac... OMIM:148050
Adams-Oliver Syndrome 5
Pulmonic stenosis, Right atrial enlargement, Syndactyly, Right ventricular hypertrophy, Splenomeg... OMIM:616028
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Cone-shaped epiphysis, Rib fusion, Short foot, Fused ... OMIM:157800
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Pec... ORPHA:64755
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Nemaline bodies, Cervical vertebral bodies with decreased ante... OMIM:606842
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Atrial septal defect, Ventricular septal defect,... OMIM:608406
Lamb-Shaffer Syndrome
Hip dysplasia, Scoliosis, Thoracic kyphosis, Microcephaly, Optic atrophy, Fused cervical vertebrae ORPHA:530983
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Eosinophilia, Cavum sep... OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Hypermobility of interphalangeal joints, ... ORPHA:508498
Atelosteogenesis, Type I
Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant c... OMIM:108720
Fibrodysplasia Ossificans Progressiva
Short hallux, Scoliosis, Small cervical vertebral bodies, Short 1st metacarpal, Ectopic ossificat... OMIM:135100
Familial Congenital Mirror Movements
Dysgenesis of the hippocampus, Agenesis of corpus callosum, Fused cervical vertebrae ORPHA:238722
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Hyperlordosis, Scapular winging, Dysphagia, Muscular edema, Lower limb muscle weakness, Limited h... ORPHA:268
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of limb bone morphology, Scoliosis, Sprengel anomaly, Congenital muscular torticollis... OMIM:118100
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Scoliosis, Limb-girdle muscular dystrophy, Cerebral atrophy, Myopathy, Right ventricular dilatation ORPHA:369847
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Pectus carinatum, Osteoporotic me... OMIM:609052
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Brac... ORPHA:1436
Pontine Tegmental Cap Dysplasia
Scoliosis, Hypoplasia of the corpus callosum, Dysphagia, Head titubation, Rib fusion, Ankle clonu... OMIM:614688
Classic Multiminicore Myopathy
Hip dysplasia, Scoliosis, Increased muscle lipid content, Congenital muscular dystrophy, Generali... ORPHA:324604
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Dextrocardia, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Platyspondyly, Narrow chest, Abnormality o... ORPHA:93267
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Hip dysplasia, Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defec... OMIM:208085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hip dysplasia, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular h... OMIM:613404
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Neck pteryg... OMIM:265000
Metatropic Dysplasia
Scoliosis, Abnormality of the ribs, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narr... ORPHA:2635
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Prom... OMIM:309620
Ring Chromosome 21 Syndrome
Scoliosis, Abnormal heart morphology, Holoprosencephaly, Abnormal thorax morphology, Fused thorac... ORPHA:1445
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Sacral dimple, Vertebral fusion, Short long bone, Double outlet right ventricle, Hy... OMIM:618845
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Basal ganglia cysts, Right ventricular hypertrophy, Agenesis of corpus callosum, Sacral dimple OMIM:613623
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Camptodactyly of finger, Multiple pterygia, Arthrogryposis multiplex congenita, Axilla... ORPHA:2990
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Muscular ventricular septal defect, Spina bifida occulta, Mic... OMIM:619227
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Hypoplasia of the corpus callosum, Sprengel anomaly, Rib fusion, Hemiver... ORPHA:1394
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx... ORPHA:1826
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Scoliosis, Pachygyria... OMIM:606612
Atrial Septal Defect, Ostium Primum Type
Clubbing of fingers, Left atrial enlargement, Right atrial enlargement, Clubbing of toes, Left ve... ORPHA:99106
Kbg Syndrome
Scoliosis, Finger clinodactyly, Thoracic kyphosis, Persistent open anterior fontanelle, Congenita... ORPHA:2332
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Broad ribs, Flaring of rib cage, Hepatomegaly, Splenomegaly, Osteopen... OMIM:612852
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Facial palsy, Short neck, Fused cervical vertebrae ORPHA:3456
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplas... OMIM:113000
Rowley-Rosenberg Syndrome
Cor pulmonale, Right ventricular hypertrophy OMIM:268500
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Diaphanospondylodysostosis
Short thorax, Short neck, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnorma... ORPHA:66637
Holt-Oram Syndrome
Scoliosis, Broad thumb, Split hand, Abnormality of the metacarpal bones, Joint stiffness, Phocome... ORPHA:392
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Right atrial enlargement, Left atrial enlargement, Interstitial cardiac fibrosis, H... ORPHA:75249
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... ORPHA:628
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal vertebral morphology, Dysphagia, Megalencephaly, A... ORPHA:280195
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Tarsal synostosis, Craniosynost... OMIM:178110
Aicardi Syndrome
Scoliosis, Cavum septum pellucidum, Spina bifida, Butterfly vertebrae, Pachygyria, Partial agenes... OMIM:304050
Verheij Syndrome
Scoliosis, Cerebral atrophy, Hemivertebrae, Abnormal cardiac septum morphology, Vertebral fusion,... OMIM:615583
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Abnormality of the ribs, Genu valgum, Upper limb undergrowth, Short metatarsal, Pla... ORPHA:93351
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Atrial septal defect, Hand polydactyly, Craniosynostosis, Abnormal vertebral morpholog... ORPHA:261197
Duane-Radial Ray Syndrome
Scoliosis, Sandal gap, Absent radius, Short thumb, Spina bifida occulta, Triphalangeal thumb, Apl... OMIM:607323
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Right atrial enlargement, Restrictive cardiomyo... OMIM:619313
Synaptic Congenital Myasthenic Syndromes
Abnormality of the knee, Limited wrist extension, Scoliosis, Hand muscle weakness, Scapular wingi... ORPHA:98915
Familial Dilated Cardiomyopathy
Left ventricular hypertrophy, Right ventricular dilatation ORPHA:217607
Apert Syndrome
Humeroradial synostosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Agenesis of corpu... OMIM:101200
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Limb muscle weakness, Atlantoaxial instability, Genu valgum, S... ORPHA:239
Baller-Gerold Syndrome
Scoliosis, Lambdoidal craniosynostosis, Aphalangy of the hands, Limited shoulder movement, Absent... OMIM:218600
Pallister-Hall Syndrome
Oligodactyly, Short 4th metacarpal, Panhypopituitarism, Postaxial hand polydactyly, Y-shaped meta... OMIM:146510
Mosaic Trisomy 20
Scoliosis, Narrow chest, Ventricular septal defect, Dysplastic tricuspid valve, Abnormal mitral v... ORPHA:1724
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Postaxial hand polydactyly, Atrial septal defect, Craniosynostosi... OMIM:213980
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Cubitus valgus, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Microcephaly, Spinal instability OMIM:251250
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Right ventricular hypertrophy, Left ventricular hypertrop... ORPHA:444013
Peripartum Cardiomyopathy
Abnormal atrioventricular valve morphology, Left atrial enlargement, Left ventricular hypertrophy... ORPHA:563
Aicardi Syndrome
Hip dysplasia, Scoliosis, Pachygyria, Partial agenesis of the corpus callosum, Optic disc colobom... ORPHA:50
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Optic atrophy, Diaphyseal thickening ORPHA:1513
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Rib fusion, Sacral dimple, Dysplastic corpus callosum, Hyperintensity of cerebral wh... ORPHA:544488
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Stapes Ankylosis With Broad Thumbs And Toes
Broad thumb, Toe syndactyly, Short distal phalanx of finger, Proximal/middle symphalangism of 5th... OMIM:184460
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Platyspondyly, Thoracic hypoplas... OMIM:602271
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, Short femoral neck, Short n... OMIM:300232
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Hemivertebrae, Cervical C2/C3 vertebral f... ORPHA:1780
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Right ventricular dilatation ORPHA:422
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Thin ribs, Vertebral fusion, Hypoplastic he... OMIM:312150
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Bifid distal phalanx of toe, Hypoplastic sacrum, Broad thumb, Short digit, Short neck,... OMIM:268310
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Joint hyperflexibility, Decreased calvarial ossification, Recurrent fr... ORPHA:2772
Wolf-Hirschhorn Syndrome
Scoliosis, Split hand, Abnormal thorax morphology, Short thumb, Congenital diaphragmatic hernia, ... ORPHA:280
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Thin ribs, Vertebral f... OMIM:271520
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Dysphagia, Cranial nerve compression, Cervical C2/... ORPHA:268882
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Thin ribs, Vertebral fusion, Hypoplastic he... OMIM:253290
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Neurogenic bladder, Decreased muscle mass, Short metatarsal, C... OMIM:617137
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Microcephaly, Tetralogy of Fallot, Abnormal clavicle morphology ORPHA:276422
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs, Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Abnormality of the anterior pituitary, Abnormality of infra-orbi... ORPHA:449563
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Dysplastic sacrum, Hemivertebrae, Limited shoulder movement, P... OMIM:134780
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Cerebral atrophy, Vertebral segmentation defect, Small hand, Left ventr... OMIM:611209
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Anomalous pulmonary venous return, Right ventricular dilatation, Unroof... ORPHA:99104
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Scoliosis, Platyspondyly, Broad toe, Beaking of vertebral bodi... OMIM:609616
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Patent foramen ovale, Short neck... OMIM:228520
White Forelock With Malformations
Atrial septal defect, Finger syndactyly, Joint hyperflexibility, Sprengel anomaly, Spina bifida o... ORPHA:2475
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Thoracic hypoplasia, Irregular epiphyses, Ovoid vertebral... OMIM:608728
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Shoulder muscle hypoplasia, Sprengel anomaly, Hemiverteb... OMIM:184400
Huntington Disease-Like 1
Abnormal shoulder morphology, Abnormality of the basal ganglia, Abnormal posturing, Cerebral cort... ORPHA:157941
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Limited elbow extension, Upper limb undergrowth, Short metatarsa... OMIM:271650
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Polydactyly, Abnormal sternum morphology, Hemive... OMIM:109400
Apert Syndrome
Toe syndactyly, Broad thumb, Agenesis of corpus callosum, Finger syndactyly, Absent septum pelluc... ORPHA:87
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Narrow chest, Pectus ca... OMIM:263540
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Zttk Syndrome
Scoliosis, Joint hypermobility, Atrial septal defect, Craniosynostosis, Ventricular septal defect... OMIM:617140
Cog1-Cdg
Irregularity of vertebral bodies, Temporal cortical atrophy, Atrial septal dilatation, Short neck... ORPHA:263508
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Right ventricular dilatation ORPHA:99103
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Papilledema, Optic atrophy, Faci... OMIM:122860
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondra... OMIM:187601
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Failure to thrive in infancy, S... OMIM:617241
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... ORPHA:2097
Autosomal Recessive Robinow Syndrome
Scoliosis, Broad thumb, Elbow dislocation, Split hand, Broad hallux phalanx, Short distal phalanx... ORPHA:1507
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis... ORPHA:2319
Osteogenesis Imperfecta, Type Ix
Scoliosis, Wormian bones, Platyspondyly, Pectus carinatum, Pectus excavatum, Beaded ribs, Recurre... OMIM:259440
Wolf-Hirschhorn Syndrome
Scoliosis, Split hand, Metatarsus adductus, Short thumb, Periventricular cysts, Hydrocephalus, Hi... OMIM:194190
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Metaphys... OMIM:269250
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Thoracic kyphosis, Camptodacty... OMIM:223800
Thanatophoric Dysplasia, Type I
Narrow chest, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Wide-cuppe... OMIM:187600
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, 2-3 toe syndactyly, Vertebral fusion, Lumba... ORPHA:313892
1P36 Deletion Syndrome
Scoliosis, Cerebral cortical atrophy, Joint stiffness, Bifid ribs, Hip dysplasia, Abnormal heart ... ORPHA:1606
Bronchopulmonary Dysplasia
Right ventricular hypertrophy ORPHA:70589
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Scoliosis, Atrial septal defect, Left ventricular noncompaction c... OMIM:300967
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Bow... ORPHA:90650
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Osteomyelitis, Right ventricular dilatation ORPHA:70591
Robinow Syndrome
Pulmonary valve atresia, Scoliosis, Tricuspid atresia, Atrial septal defect, Abnormal heart morph... ORPHA:97360
Atrial Septal Defect, Sinus Venosus Type
Anomalous pulmonary venous return, Right ventricular dilatation ORPHA:99105
Chromosome 1P36 Deletion Syndrome
Scoliosis, Delayed closure of the anterior fontanelle, Camptodactyly, Cerebral cortical atrophy, ... OMIM:607872
Parkinson Disease 4, Autosomal Dominant
Weight loss, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Lewy bodies OMIM:605543
Congenital Fibrinogen Deficiency
Clubbing of fingers, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:335
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Short thorax, Hyperlordosis, Platyspondyly, Abnormality of epiphysis morp... ORPHA:582
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Platyspondyly, Thoracic hypoplasia, Delayed skeletal m... ORPHA:168549
Gorlin Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Cerebral calcification, Vertebral wedging, Arachnodac... ORPHA:377
Aarskog-Scott Syndrome
Camptodactyly of finger, Short neck, Finger syndactyly, Genu recurvatum, Joint hyperflexibility, ... ORPHA:915
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, Fused cervical v... ORPHA:83617
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Atrial septal defect, Short neck, Narrow chest, Hypoplasia of the corpus callosum, Dysphagia, Fle... ORPHA:280633
Mucopolysaccharidosis, Type Vi
Metaphyseal irregularity, Flared iliac wing, Split hand, Ovoid vertebral bodies, Joint stiffness,... OMIM:253200
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of epiphysis morphology, Abnormality of the ribs, Microcephaly, Brachydactyly, Delaye... ORPHA:2643
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormal cardiac septum morphology, Abnormal lower motor neuron morpholo... ORPHA:93941
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Myelomeningocele, Ventricular septal... ORPHA:2876
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Preaxial hand polydactyly, Abnormal thumb morphology, Anomalous pulmonary venous re... ORPHA:1120
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Ovoi... OMIM:608940
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasi... OMIM:614833
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Bell-shaped thorax, Hypoplastic iliac wing, Horizontal ribs, Short... OMIM:187760
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, S... OMIM:184250
Melnick-Needles Syndrome
Scoliosis, Abnormality of the ribs, Short thorax, Anisospondyly, Narrow chest, Joint hyperflexibi... ORPHA:2484
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Multiple joint dislocation, Platyspondyly, Joint laxity, Metap... OMIM:618395
Mosaic Trisomy 14
Abnormality of the ribs, Camptodactyly of finger, Short neck, Narrow chest ORPHA:1703
Mucopolysaccharidosis, Type Iva
Scoliosis, Constricted iliac wing, Joint laxity, Ovoid vertebral bodies, Large elbow, Osteoporosi... OMIM:253000
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Joint hyperflexibility, Reduced bo... ORPHA:1488
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, ... OMIM:615633
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Platyspondyly, Short femur, Short neck, Ventricular septal defect, Thoracic hypopl... OMIM:616897
Caudal Regression Sequence
Scoliosis, Decreased muscle mass, Arrhinencephaly, Abnormal iliac wing morphology, Missing ribs, ... ORPHA:3027
Otopalatodigital Syndrome Type 2
Scoliosis, Tarsal synostosis, Narrow chest, Flared iliac wing, Elbow dislocation, Abnormality of ... ORPHA:90652
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Decreased cranial base ossification, ... OMIM:151210
Mohr-Tranebjaerg Syndrome
Dysphagia, Increased susceptibility to fractures, Abnormal posturing OMIM:304700
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Short metacarpal, Patell... OMIM:617604
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures, Slender lon... ORPHA:1486
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Joint hypermobility, Hemivertebrae, Abnormal cerebral cortex morphology, Hypoplasia of the corpus... ORPHA:500150
Poland Syndrome
Scoliosis, Absent hand, Abnormal sternum morphology, Split hand, Unilateral brachydactyly, Hemive... ORPHA:2911
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Short neck, Abnormal hand bone ossificatio... OMIM:200600
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Aqueductal stenosis, Tibial bowing, Abnormally ossified ... ORPHA:3035
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Aortic valve stenosis, Right ventricular hypertroph... OMIM:267010
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Sandal gap, Hemivertebrae, Ab... ORPHA:2180
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal muscle fiber morphology, Pectus carinatum, Facial palsy, Abnormal hip bon... ORPHA:3068
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Congenital muscular dystrophy, Kyphosis, Pelvic girdle mu... OMIM:607155
Mucopolysaccharidosis, Type Ivb
Scoliosis, Genu valgum, Osteoporosis, Prominent sternum, Hyperlordosis, Constricted iliac wing, J... OMIM:253010
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Atrial septal defect, Broad ribs, Ventricular septal defect, Abnormal... ORPHA:2519
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short 2nd metacarpal, Lateral clavicle hook, Radioulnar synostosis, Elbow dislocation, Split hand... OMIM:171480
Classic Pantothenate Kinase-Associated Neurodegeneration
Eye of the tiger anomaly of globus pallidus, Abnormal posturing, Dysphagia, Increased susceptibil... ORPHA:216866
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cerebral atrophy, Abnormal posturing, Atrial septal defect OMIM:614857
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Renpenning Syndrome
Abnormal thumb morphology, Pectus excavatum, Sprengel anomaly, Joint stiffness, Skeletal muscle a... ORPHA:3242
Achondrogenesis Type 1B
Short thorax, Narrow chest, Abnormal enchondral ossification, Short foot, Abnormality of the ribs... ORPHA:93298
Spondylometaphyseal Dysplasia, Sedaghatian Type
Accelerated skeletal maturation, Platyspondyly, Metaphyseal chondrodysplasia, Pachygyria, Narrow ... ORPHA:93317
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Narrow chest, Flared iliac wing, Iliac crest s... OMIM:250220
Dysosteosclerosis
Delayed closure of the anterior fontanelle, Narrow chest, Increased susceptibility to fractures, ... OMIM:224300
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Joint hypermobility, Biconcave vertebral bodies, Pectus excavatum, Kyph... OMIM:130720
Koolen-De Vries Syndrome
Scoliosis, Aplasia/Hypoplasia of the corpus callosum, Joint hyperflexibility, Pectus excavatum, K... ORPHA:96169
3M Syndrome
Scoliosis, Congenital hip dislocation, Enlarged thorax, Abnormality of the elbow, Horizontal ribs... ORPHA:2616
Cartilage-Hair Hypoplasia
Scoliosis, Accelerated skeletal maturation, Narrow chest, Spinal dysraphism, Abnormality of the m... ORPHA:175
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Limited elbow extension and supination, Abnormal vertebral segmen... OMIM:244600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Achondrogenesis, Type Ii
Stillbirth, Broad long bones, Horizontal ribs, Hypoplastic iliac wing, Short ribs, Absent vertebr... OMIM:200610
Gm1-Gangliosidosis, Type I
Thickened ribs, Scoliosis, Abnormal heart valve morphology, Beaking of vertebral bodies, Kyphosis... OMIM:230500
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Pseudobulbar paralysis, Atrial septal defect, Joint laxity, Ventricular septal defect, Hypoplasia... ORPHA:466791
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Short neck, Abnormalit... ORPHA:3082
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplastic iliac wing, Metaphyseal cupping, T... OMIM:300863
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... OMIM:602111
Pallister-Hall Syndrome
Broad thumb, 3-4 finger cutaneous syndactyly, Supernumerary metacarpal bones, Pituitary hypothyro... ORPHA:672
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Ventricular septal defect, Thoraci... OMIM:617895
Koolen-De Vries Syndrome
Hip dysplasia, Joint hypermobility, Scoliosis, Atrial septal defect, Ventricular septal defect, H... OMIM:610443
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary cavity of the lo... ORPHA:93324
Prune Belly Syndrome
Scoliosis, Atrial septal defect, Congenital hip dislocation, Ventricular septal defect, Pectus ex... ORPHA:2970
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular hypertrophy OMIM:265400
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... ORPHA:1505
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Scoliosis, Delayed closure of the anterio... OMIM:614008
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Scoliosis, Abnormal form of the vertebral bodies, Vertebral segmentation... ORPHA:1834
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Metaphyse... OMIM:250420
Achondrogenesis Type 1A
Short thorax, Narrow chest, Abnormal enchondral ossification, Recurrent fractures, Multiple rib f... ORPHA:93299
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Dysphagia, Flexion contracture, Abnormal tho... ORPHA:171430
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Myhre Syndrome
Camptodactyly, Pericardial effusion, Joint stiffness, Short neck, Enlarged vertebral pedicles, Sh... OMIM:139210
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hyperflexibility, Hemivertebrae, Abnormality of the ... ORPHA:2759
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Diastasis recti, Atrial septal defect, Posterior rib fusion, Parachute m... OMIM:265380
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Tarsal synostosis, C2-C3 subluxation, Abnormality of pelvic girdle bone morphology, Sh... OMIM:272460
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Trisomy 1Q
Camptodactyly of finger, Short thorax, Preaxial hand polydactyly, Toe syndactyly, Agenesis of cor... ORPHA:261344
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs, Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Aplasia/Hypoplasia of the corpus callosu... OMIM:251230
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Postaxial hand polydactyly, Elbow dislocation, Abnormal form of the vertebral bodies, ... ORPHA:2916
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Abnorm... ORPHA:2234
Trisomy 13
Scoliosis, Postaxial hand polydactyly, Atrial septal defect, Narrow chest, Ventricular septal def... ORPHA:3378
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Metat... OMIM:271640
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Accelerated skeletal maturation, Osteoporosis, Platyspondyly, Broad ribs, Narrow ch... ORPHA:1517
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypopla... ORPHA:2021
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Broad long bones, Beaded ribs, Absent ossification of calvaria, Rec... OMIM:166210
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the corpus callosum, Finger s... ORPHA:1647
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Hypophosphatasia
Abnormality of the ribs, Craniosynostosis, Narrow chest, Bowing of the long bones, Recurrent frac... ORPHA:436
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Short distal phalanx of toe, Short distal phalanx of finger, Calcaneal epip... ORPHA:79345
Stuve-Wiedemann Syndrome
Scoliosis, Short phalanx of finger, Pathologic fracture, Elbow flexion contracture, Femoral bowin... OMIM:601559
Cat-Eye Syndrome
Hip dysplasia, Abnormality of the ribs ORPHA:195
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Thin ribs, Cl... OMIM:604922
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Rickets, Bulging of the c... OMIM:600081
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Macroglossia, Hip subluxation, Abnormal vertebral morphology, Abnormal heart morph... ORPHA:444077
Vici Syndrome
Abnormal posturing, Left ventricular hypertrophy, Schizencephaly, Dilated cardiomyopathy, Microce... OMIM:242840
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Asymmetric septal hypertrophy, Dysphagia, Dense calvaria, Hepatomegaly, Ovoid tho... OMIM:252930
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Narrow chest, Hepatomegaly, Abnormal hip bone morphology, Abnormality ... ORPHA:363705
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Joint hypermobility, Abnormal bone ossification, Lumbar hemivertebrae,... ORPHA:2463
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, Ovoid thoracolumbar ... OMIM:252920
Cenani-Lenz Syndrome
Oligodactyly, Scoliosis, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Synosto... ORPHA:3258
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hypoplasia of the corpus callosum, Cerebra... OMIM:614576
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Broad thumb, Congenital hip dislocation, Congenital d... ORPHA:373
Xylt1-Cdg
Accelerated skeletal maturation, Broad thumb, Broad ribs, Joint laxity, Hepatomegaly, Short long ... ORPHA:370930
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Atrial septal defect, Narrow chest, Abnormality of the ischi... ORPHA:2347
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Finger syndactyly, Split hand, Abnormality of the ribs, Brachydactyly ORPHA:2145
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Narrow chest, Abnormality of the metacarpal bones, Short clavicles, Spi... ORPHA:1452
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Accelerated skeleta... OMIM:245600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Lateral clavicle hook, Absent tibia, Agenesis of corpus callosum, Enlarged kidney, Tho... OMIM:613091
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Ventricular hypertrophy, Abnormal h... ORPHA:51608
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Orthostatic hypotension due to autonomic dysfunction, Pituitary hypo... ORPHA:66628
Mucopolysaccharidosis Type 6
Genu valgum, Macroglossia, Broad ribs, Abnormal heart valve morphology, Ovoid vertebral bodies, K... ORPHA:583
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, Ovoid thoracolumbar ... OMIM:252900
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Abnormal heart morphology, Th... OMIM:114290
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Asymmetric septal hypertrophy, Dysphagia, Flexion contracture, Hepatomegaly, Ovoi... OMIM:252940
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contracture, Bell-shape... OMIM:608149
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis... ORPHA:2050
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Premature sternal synostosis, Abnormal heart morphology OMIM:184800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Failure to thrive ORPHA:277
Ellis-Van Creveld Syndrome
Genu valgum, Postaxial hand polydactyly, Atrial septal defect, Narrow chest, Pectus carinatum, Ho... OMIM:225500
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Macroglossia, Scoliosis, Abnormal vertebra... ORPHA:93473
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Orthostatic hypotension due to autonomic dysfunction, Pituitary hypo... ORPHA:179494
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Lateral clavicle hook, Postaxial polysyndactyly of foot, Postaxial hand polydactyl... OMIM:263520
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Decreased muscle mass, Generalized bone demineralization, Abnormal bone ossi... ORPHA:73230
Tetraamelia-Multiple Malformations Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebr... ORPHA:3301
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Short neck, Broad ribs, Narrow chest, Ventricular septal defect, Torticollis... OMIM:617022
Short-Rib Thoracic Dysplasia 12
Narrow chest, Horizontal ribs, Anencephaly, Bowing of the legs, Patent foramen ovale, Short neck,... OMIM:269860
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth OMIM:152800
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal form of the vertebral bodies, Hypoplasi... ORPHA:52
Kniest-Like Dysplasia, Lethal
Platyspondyly, Atrial septal defect, Broad ribs, Narrow chest, Metaphyseal irregularity, Short di... OMIM:245190
Craniometadiaphyseal Dysplasia
Scoliosis, Genu valgum, Wormian bones, Cubitus valgus, Broad ribs, Broad long bones, Megalencepha... OMIM:269300
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Scoliosis, Rudimentary fibula, Hypoplasia of the radius, Finger syn... ORPHA:958
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Biconcave vertebral bodies, Decreased calvarial os... OMIM:259420
Holzgreve Syndrome
Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the metacarpal bones,... ORPHA:2167
Mosaic Trisomy 8
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Short neck, Narrow chest,... ORPHA:96061
Three M Syndrome 2
Prominent calcaneus, Hyperlordosis, Short thorax, Scapular winging, Pectus carinatum, Thin ribs, ... OMIM:612921
Craniofaciofrontodigital Syndrome
Cubitus valgus, Joint hypermobility, Broad ribs, Abnormal heart morphology, Hypoplastic pelvis, P... OMIM:114620
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Hypoplastic ilia... ORPHA:163966
Idiopathic Pulmonary Arterial Hypertension
Right ventricular hypertrophy, Ankle swelling ORPHA:275766
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Joint laxity, Elbow dislocation, Camptodactyly, Hemivertebrae, Osteochondri... OMIM:224690
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Abnormal posturing, Kyphosis, Torticollis OMIM:128100
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Tri... OMIM:271665
Vacterl/Vater Association
Preaxial hand polydactyly, Finger syndactyly, Anencephaly, Aplasia/Hypoplasia of the radius, Abno... ORPHA:887
Hyperparathyroidism, Transient Neonatal
Narrow chest, Short ribs, Thin ribs, Osteopenia, Femoral bowing OMIM:618188
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Joint laxity, Camptodactyly, Metatarsus adductu... OMIM:182212
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Narrow chest, Elbow ankylosis, Recurrent fractures, De... ORPHA:83
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Pectus excavatum, Kyphosis, Narrow ili... OMIM:616294
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgG level, Decreased circulating IgA level, Parti... OMIM:240500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Craniosynostosis, Tarsal synostosis, Narrow chest, Camptodactyly, Abnormality of the r... ORPHA:95699
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Short palm, Thin ribs, Slender long bone, Small hand,... OMIM:244460
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Impaired T cell function, Decreased circulating IgG level, Decre... OMIM:607594
Osteogenesis Imperfecta
Scoliosis, Wormian bones, Abnormality of long bone morphology, Abnormality of tibia morphology, J... ORPHA:666
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Postaxial hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral mo... OMIM:308205
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Aplasia/hypoplasia involving... ORPHA:3384
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Short neck, Broad ribs, Biconcave vertebral bodies, Short humerus, Short ribs, Short c... OMIM:610319
Craniorachischisis
Cervical spina bifida, Spinal dysraphism, Anencephaly, Congenital diaphragmatic hernia, Bifid ste... ORPHA:63260
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Arthrogryposis multiplex congenita, Elbow dislocation, Increased bone m... ORPHA:800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Acro-Renal-Ocular Syndrome
Short hallux, Radial club hand, Preaxial hand polydactyly, Abnormal thumb morphology, Toe syndact... ORPHA:959
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Bone pain, Generalized osteosclerosis, Rachitic rosary, Bowi... ORPHA:89936
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly... ORPHA:96334
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of tibia morphology, Elevated circulating growth hormone concentration, Bo... ORPHA:249
Monosomy 9Q22.3
Accelerated skeletal maturation, Cardiac fibroma, Abnormality of the vertebral column, Polydactyl... ORPHA:77301
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Delayed closure of the anterior fontanelle, Camptodactyly, Spina bifida occulta, Scler... OMIM:300373
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Bowing of the long ... OMIM:617952
Alkaptonuria
Thickened Achilles tendon, Intervertebral disc degeneration, Mitral valve calcification, Low back... OMIM:203500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Hyperlordosis, Platyspondyly, Decreased hip abduction, Bowing of the long bones, Metap... ORPHA:85167
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Craniosynostosis, Arthrogryposis multiplex congenita, Brachydactyly OMIM:618265
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Thoracic hypoplasia, Coat ... ORPHA:254534
Osteogenesis Imperfecta, Type Viii
Radial bowing, Wormian bones, Scoliosis, Platyspondyly, Joint laxity, Kyphosis, Recurrent fractur... OMIM:610915
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Lateral clavicle hook, Craniosynostosis, Camptod... OMIM:600920
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Sclerosteosis 1
2-3 finger syndactyly, Broad ribs, Sclerotic vertebral endplates, Broad clavicles, Cortically den... OMIM:269500
Charcot-Marie-Tooth Disease Type 4C
Hip dysplasia, Tibialis atrophy, Scapular winging, Decreased muscle mass, Abnormality of the vert... ORPHA:99949
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Camptodactyly, Pectus excavatum, Down-sloping shoulders, Abnormal ri... OMIM:227330
Trisomy 18
Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Atrial septal defect, Aplasia/... ORPHA:3380
Cerebrocostomandibular Syndrome
Scoliosis, Porencephalic cyst, Atrial septal defect, Congenital hip dislocation, Ventricular sept... OMIM:117650
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Increased bone mineral density, Abnormal diaphysis morphology, Short t... ORPHA:85184
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Finger syndactyly, Pectus... ORPHA:2215
Pulmonary Hypertension, Primary, 1
Right ventricular hypertrophy OMIM:178600
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Myelomeningocele, Ventricular septal defect, Posterior rib gap,... ORPHA:1393
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Craniosynostosis, Broad ribs, Split hand, Carpal bone hypoplas... OMIM:252600
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Eiken Syndrome
Broad ribs, Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finge... OMIM:600002
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Genu valgum, Platyspondyly, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Campomelia, Cumming Type
Bowing of the long bones, Abnormal thorax morphology, Hepatomegaly, Abnormally ossified vertebrae... ORPHA:1318
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Thin rib... OMIM:615368
Occipital Horn Syndrome
Osteoporosis, Genu valgum, Limited elbow extension, Platyspondyly, Broad ribs, Narrow chest, Join... OMIM:304150
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ... OMIM:300853
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Dysphagia, Abnormal posturing, Hypomimic face ORPHA:225147
Osteogenesis Imperfecta, Type X
Scoliosis, Genu valgum, Platyspondyly, Broad ribs, Narrow chest, Joint laxity, Generalized joint ... OMIM:613848
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the middle phalanges of the hand, Humeroradial synostosis, Broad ribs, Prox... OMIM:151050
Unilateral Polymicrogyria
Pseudobulbar paralysis, Abnormal posturing, Abnormal heart morphology, Giant somatosensory evoked... ORPHA:268943
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Complete atrioventricular canal defect, Decreased calvarial ... OMIM:617925
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Failure to thrive OMIM:201100
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Beaded ribs, Osteopenia, Vertebral compression fracture OMIM:616229
Familial Osteodysplasia, Anderson Type
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Recurrent fracture... ORPHA:2769
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Narrow chest, Spl... OMIM:200980
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Prominent sternum, Flexion contracture of finger, Diastasis recti, Overlapping toe,... ORPHA:254528
Mucopolysaccharidosis Type 3
Scoliosis, Increased susceptibility to fractures, Cardiomegaly, Joint stiffness, Abnormality of t... ORPHA:581
Alpha-Mannosidosis, Infantile Form
Craniosynostosis, Facial hypotonia, Joint laxity, Cerebral cortical atrophy, Joint stiffness, Sho... ORPHA:309282
Dextrocardia
Situs inversus totalis, Congenital hip dislocation, Abnormal heart morphology, Dextrocardia, Abno... ORPHA:1666
Kyphomelic Dysplasia
Anterior rib cupping, Radial bowing, Lateral clavicle hook, Short femur, Bowed humerus, Platyspon... OMIM:211350
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Short distal phalanx of finger, Short neck, Scler... OMIM:269150
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Pyknoachondrogenesis
Aplastic pubic bones, Short thorax, Short iliac bones, Enlarged thorax, Poorly ossified vertebrae... ORPHA:3003
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Turnpenny-Fry Syndrome
Facial hypotonia, Narrow chest, Torticollis, Mitral valve prolapse, Cavum septum pellucidum, Thor... OMIM:618371
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Hemivertebrae, Phocomelia, Barrel-shaped chest, Femoral bowing,... OMIM:276820
Weill-Marchesani Syndrome 1
Scoliosis, Broad ribs, Ventricular septal defect, Broad metatarsal, Lumbar hyperlordosis, Pulmoni... OMIM:277600
Duane Retraction Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Short neck, Abnormal form of the vertebral b... ORPHA:233
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Camptodactyly of finger, Cavum septum pellucidum, Arthrogryposis multiplex co... OMIM:208150
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Hepatomegaly, Optic nerve compression, Multiple rib fractures, Spl... OMIM:612301
Aspergillosis
Abnormality of long bone morphology, Abnormality of the vertebral column, Abnormality of the ribs... ORPHA:1163
Fryns Syndrome
Rocker bottom foot, Atrial septal defect, Broad ribs, Stillbirth, Ventricular septal defect, Thor... OMIM:229850
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Hand polydactyly, Short phalanx of finger, Narrow chest, Metaphyseal irreg... OMIM:208500
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Myhre Syndrome
Platyspondyly, Large iliac wing, Abnormality of epiphysis morphology, Skeletal muscle hypertrophy... ORPHA:2588
Hemifacial Microsomia
Vertebral hypoplasia, Hypoplasia of facial musculature, Hydrocephalus, Ventricular septal defect,... OMIM:164210
Hallermann-Streiff Syndrome
Scoliosis, Wormian bones, Spina bifida, Joint hypermobility, Hyperlordosis, Pectus excavatum, Abn... OMIM:234100
Pagod Syndrome
Abnormal clavicle morphology, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left... ORPHA:991
Smith-Lemli-Opitz Syndrome
Scoliosis, Split hand, Abnormality of the metacarpal bones, Congenital diaphragmatic hernia, Abno... ORPHA:818
Weill-Marchesani Syndrome 2
Scoliosis, Short metatarsal, Broad ribs, Ventricular septal defect, Broad metatarsal, Short finge... OMIM:608328
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Narrow chest, Abnormality of epiphysis morphology, Bowing of the long bones, Re... ORPHA:667
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Thin ribs, Proximal mus... ORPHA:169189
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Cardiomyopathy, Hip dysplasia, Macroglossia, Abnormal tricuspid valve morphology, Ab... ORPHA:217093
Coffin-Lowry Syndrome
Scoliosis, Bifid sternum, Delayed closure of the anterior fontanelle, Pectus carinatum, Pectus ex... OMIM:303600
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Short neck, Short sternum, Aplasia of the ulna, Short metacarpal, Short... OMIM:266910
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Toe syndactyly, Finger syndactyly, Split hand, Joint stiffness, Abnormality of the rib... ORPHA:1300
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Spina bifida occulta, Short foot, Abnormality of the ribs, Sternocleidoma... ORPHA:488434
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased circulating antibody level, Lack of T cell function, Panhypogammaglobulinemia, Decrease... ORPHA:572
Osteogenesis Imperfecta, Type Vii
Scoliosis, Wormian bones, Protrusio acetabuli, Narrow chest, Pectus excavatum, Decreased calvaria... OMIM:610682
Kagami-Ogata Syndrome
Diastasis recti, Thoracic hypoplasia, Dysphagia, Bell-shaped thorax, Coat hanger sign of ribs, Li... ORPHA:254519
Mandibuloacral Dysplasia Progeroid Syndrome
Genu valgum, Mitral valve calcification, Pectus excavatum, Flexion contracture, Osteopenia, Decre... OMIM:619127
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Camptodactyly, Abnormal thorax morphology, Short distal phalanx of fing... ORPHA:798
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Failure to thrive, Agammaglobulinemia OMIM:209920
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormality of the elbow, Abnorm... ORPHA:3015
Charge Syndrome
Scoliosis, Hemivertebrae, Absent radius, Double outlet right ventricle, Short thumb, Abnormality ... OMIM:214800
Cranioectodermal Dysplasia 2
Postaxial hand polydactyly, Atrial septal defect, Craniosynostosis, Narrow chest, Joint laxity, P... OMIM:613610
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Decreased skull ossification, Brachydactyly, Hyd... OMIM:602361
Monosomy 9P
Scoliosis, Postaxial hand polydactyly, Abnormality of the tarsal bones, Abnormality of the verteb... ORPHA:261112
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Abnormality of epiphysis morphology, Elbow dislocation... ORPHA:2554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Panhypogammaglobulinemia, Abnormality of B cell physiology, Failure to thrive, ... OMIM:600802
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Unicoronal synostosis, Narrow chest, Hypoplastic pelvis, Preaxial polydactyl... OMIM:616300
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial hand polydactyly, Narrow chest, Horizontal ribs, Short ribs, Hepatomegaly, Short long b... OMIM:617088
Sandifer Syndrome
Decreased cervical spine mobility, Torticollis, Abnormal posturing ORPHA:71272
Charge Syndrome
Scoliosis, Abnormality of tibia morphology, Abnormal cranial nerve morphology, Holoprosencephaly,... ORPHA:138
Mucopolysaccharidosis Type 2, Severe Form
Hip dysplasia, Camptodactyly of finger, Thickened ribs, Macroglossia, Abnormal vertebral morpholo... ORPHA:217085
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:603909
Purine Nucleoside Phosphorylase Deficiency
Impaired T cell function, Abnormality of B cell physiology, Decreased lymphocyte proliferation in... OMIM:613179
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Small for gestational age, Failure to t... ORPHA:1830
Vater/Vacterl Association
Scoliosis, Hypoplasia of the radius, Spina bifida, Radioulnar synostosis, Abnormal vertebral morp... OMIM:192350
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Failure to thrive in infancy, Decreased lymphocy... ORPHA:35078
Townes-Brocks Syndrome
Preaxial hand polydactyly, Broad thumb, Toe syndactyly, Atrial septal defect, Abnormal vertebral ... ORPHA:857
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Hypoplasia of the corpus callosu... OMIM:618213
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Humeroradial synostosis, Short neck, Short sternum, Short humerus, Shor... ORPHA:3404
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Reduced delayed hypersensitivity OMIM:242700
Alagille Syndrome 1
Atrial septal defect, Ventricular septal defect, Hypoplasia of the ulna, Short distal phalanx of ... OMIM:118450
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level, Weight loss, Optic neurop... OMIM:181000
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Finger syndactyly, Joint hyperflexibility, Abnormality of the metacarpal... ORPHA:2907
Wiedemann-Rautenstrauch Syndrome
Scoliosis, Delayed closure of the anterior fontanelle, Short femur, Agenesis of corpus callosum, ... OMIM:264090
Orotic Aciduria
Impaired T cell function, Failure to thrive OMIM:258900
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Camptodactyly of finger, Finger syndactyly, Dysphagia, Short 5th metacarpal... ORPHA:2908
Coccidioidomycosis
Abnormality of long bone morphology, Osteomyelitis, Osteolysis, Broad ribs, Pericarditis, Abnorma... ORPHA:228123
Immunodeficiency 58
Decreased T cell activation, Decreased specific antibody response to vaccination, Decreased circu... OMIM:618131
Restrictive Dermopathy
Camptodactyly of finger, Arthrogryposis multiplex congenita, Atrial septal defect, Thoracic kypho... ORPHA:1662
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Genu valgum, Platyspondyly, Joint swelling, Abnormality of epiphysis morphology, Joint... ORPHA:534
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:600903
22Q11.2 Deletion Syndrome
Arrhinencephaly, Aganglionic megacolon, Impaired T cell function, Failure to thrive, Microcephaly... ORPHA:567
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Velocardiofacial Syndrome
Impaired T cell function, Microcephaly OMIM:192430
Wiskott-Aldrich Syndrome
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:301000
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Small for gestational age OMIM:176690
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Digeorge Syndrome
Impaired T cell function, Obesity OMIM:188400
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Anterior hypopituitarism, Obesity ORPHA:478
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
OMIM:614897
Brugada Syndrome
ORPHA:130

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 Sema3a

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 Sema3a.

No publications found that use IMPC mice or data for Sema3a.

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MGI Allele Allele Type Produced
Sema3atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sema3atm40251(L1L2_st0) Targeting vectors
Sema3atm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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