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:
Semad,  SemD,  collapsin-1,  sema III,  semaphorin III

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
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
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Situ... OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... OMIM:277300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Abnormal... ORPHA:3268
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scolios... OMIM:214300
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r... ORPHA:2522
Frontometaphyseal Dysplasia 1
Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn... OMIM:305620
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Abnormal rib morphology, Vertebral segmentation defect, Missing ribs,... ORPHA:1797
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Pectus carinatum, Abnormal tibia morphology, Supernumerary ribs, ... ORPHA:64755
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Optic atrophy, Fused cervical vertebrae, Hyperactivity, Hip dysplasia, ... ORPHA:530983
Nestor-Guillermo Progeria Syndrome
Thin ribs, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, W... OMIM:614008
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnorma... ORPHA:1354
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Encephalocele, Neonatal de... OMIM:108720
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Tetralogy of Fallot, Fibular aplas... ORPHA:3320
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short thorax, Camptodactyly of finger, Abnormal form of the vertebral bodies, ... ORPHA:2311
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi... OMIM:619424
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Osteopenia, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, ... OMIM:611209
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Cardiomyopathy, Fusion of midcervical facet joints, Limb muscle weakness, Wideni... OMIM:606842
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Agenesis of corpus callosum, Ventricular se... ORPHA:508498
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, A... OMIM:118100
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Brachydactyly, Right atrial enlargement, Right ventricular hy... OMIM:616028
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Patent foramen ovale, Agenesis of corpus callosu... OMIM:609053
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Agenesis of corpus callosum, Colpocephaly, Atrial septal defect, Hydrocephalus, Ri... OMIM:615219
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... ORPHA:1436
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Congenital diaphragmatic hernia, Ara... OMIM:265000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Absent... OMIM:618469
Familial Congenital Mirror Movements
Fused cervical vertebrae, Agenesis of corpus callosum ORPHA:238722
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Cardiomyopathy, Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion,... OMIM:616549
Classic Multiminicore Myopathy
Spinal rigidity, Muscular dystrophy, Muscle fiber atrophy, Multiple joint contractures, Mitral va... ORPHA:324604
Congenital Gerbode Defect
Bacterial endocarditis, Ankle swelling, Ventricular septal defect, Constrictive pericarditis, Per... ORPHA:99095
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Mitral valve prolapse, Thoracic scoliosis, Generalized joint hyperm... OMIM:618000
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnorm... ORPHA:66637
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Mitral valve prolapse, Joint hypermobility, Bicuspid aortic valve, Pectus excavatum, Right atrial... ORPHA:555877
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Lumbar hyperlordosis, Obsessive-compulsive trait, Lumbar scoliosis, Cervical C2... OMIM:617796
Pontine Tegmental Cap Dysplasia
Scoliosis, Ankle clonus, Rib fusion, Head titubation, Hemivertebrae, Facial palsy, Dysphagia OMIM:614688
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Right... OMIM:253700
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Abnormal heart morphology, Congenital diaphragmatic hernia, Abnorm... ORPHA:261197
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Vertebral segmentation defect, Bicuspid aortic valve, Double outlet right... OMIM:618845
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... OMIM:309620
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnorma... ORPHA:93267
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Optic atrophy, Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebr... ORPHA:313892
Metatropic Dysplasia
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Ab... ORPHA:2635
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Broad ribs, Osteomyelitis, Splenomegaly, Joint swelling, Flaring of rib cage, Hepatom... OMIM:612852
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Frontometaphyseal Dysplasia
Hypoplasia of the musculature, Broad thumb, Short distal phalanx of the thumb, Joint contracture ... ORPHA:1826
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co... OMIM:151200
Wildervanck Syndrome
Pseudopapilledema, Short neck, Meningocele, Facial palsy, Fused cervical vertebrae ORPHA:3456
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Optic atrophy, Clinodactyly, Patent foramen ovale, Ventricular se... OMIM:614261
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... OMIM:135100
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe... OMIM:607323
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Ventricular septal defect, Short clavicles, Wormian bones, Fused cervical ve... OMIM:617159
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Skeletal muscle atrophy, Finger syndactyly, Abnormal ste... ORPHA:2990
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome... OMIM:274000
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes... ORPHA:1801
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Addictive alcohol use, Hepat... ORPHA:57777
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca... ORPHA:392
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Butterfly vertebrae, Attention deficit hyperactivity disorder... OMIM:619227
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Cardiac fibroma, Arachnodactyly, Rib fusion, Br... ORPHA:377
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Tapered toe, Lateral ventricle dilatation, Rib fusion, Dysplastic corpus... ORPHA:544488
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Limit... ORPHA:93351
Microphthalmia, Syndromic 3
Optic nerve aplasia, Butterfly vertebrae, Agenesis of corpus callosum, Missing ribs, Supernumerar... OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Scoliosis, Skeletal muscle atrophy, Kyphosis,... OMIM:606612
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Overlapping toe, Vertebral fusion, Self-mutilation, Joint hypermobility, Rib fusion... OMIM:213980
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal heart morphology, Abnormal thorax morp... ORPHA:1445
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... OMIM:142900
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs... ORPHA:1394
Kbg Syndrome
Finger clinodactyly, Cervical ribs, Delayed skeletal maturation, Persistent open anterior fontane... ORPHA:2332
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irr... OMIM:602271
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Interstitial cardiac fibrosis, Left atrial enlargement, Hepatomegaly... ORPHA:75249
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopa... ORPHA:98915
Dystonia 31
Dysphagia, Abnormal posturing OMIM:619565
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, P... OMIM:618052
Femoral-Facial Syndrome
Toe syndactyly, Humeroradial synostosis, Encephalocele, Agenesis of corpus callosum, Ventricular ... OMIM:134780
Craniodiaphyseal Dysplasia
Optic atrophy, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of the vestibulocochlear nerve, Ce... ORPHA:268882
Caspase 8 Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Reduced CD95... OMIM:607271
Cardiomyopathy, Familial Restrictive, 3
Right atrial enlargement, Restrictive cardiomyopathy, Myocardial sarcomeric disarray OMIM:612422
Aicardi Syndrome
Optic atrophy, Block vertebrae, Lateral ventricle dilatation, Optic disc coloboma, Butterfly vert... OMIM:304050
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha... OMIM:184460
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ... ORPHA:628
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Ventricular septal defect, Barre... OMIM:178110
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff... OMIM:619313
Mosaic Trisomy 20
Narrow chest, Clinodactyly, Spinal canal stenosis, Abnormal mitral valve morphology, Dysplastic t... ORPHA:1724
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets OMIM:614473
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor... ORPHA:239
Cardiomyopathy, Familial Hypertrophic, 26
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement OMIM:617047
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Arac... ORPHA:280
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ... OMIM:271520
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Delayed skeletal maturation, Bell-shaped thorax, Horizontal ribs, Atrial sept... OMIM:614857
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... OMIM:620519
Aicardi Syndrome
Optic atrophy, Small hand, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing rib... ORPHA:50
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Ventricular septal defect, Neonatal death, Radial hea... OMIM:146510
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility OMIM:617333
Autosomal Recessive Robinow Syndrome
Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Ve... ORPHA:1507
Shashi-Pena Syndrome
Kyphosis, Cervical C2/C3 vertebral fusion, Limb hypertonia, Atrial septal defect, Accelerated ske... OMIM:617190
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Broad thumb, Finger clinodactyly, Flared metaphysis, Decreased muscle... OMIM:617137
Kbg Syndrome
Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Ulnar deviation of the 2n... OMIM:148050
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contract... ORPHA:1145
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Short finger, Amyoplasia, Hypoplastic heart, Increased susceptibili... OMIM:312150
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy, Prolonged prothrombin time, Clubbing... ORPHA:335
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hip dysplasia, Arthrogrypo... OMIM:208085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Hip dysplasia, Hepatomegaly, Arthrogryposis multiplex congenita, Right... OMIM:613404
Atrial Septal Defect, Ostium Primum Type
Clubbing of toes, Left atrial enlargement, Left ventricular hypertrophy, Right atrial enlargement... ORPHA:99106
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy... OMIM:609616
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Delayed skeletal maturation, Carpal synostosis, Muscular ventricular septa... OMIM:157800
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Thakker-Donnai Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Agenesis of corp... ORPHA:1780
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Sprengel Deformity
Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi... OMIM:184400
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Amyoplasia, Hypoplastic heart, Increased susceptibili... OMIM:253290
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho... OMIM:228520
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ... OMIM:259440
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial osteosclerosis, Cortical sclerosis, Facial diplegia, Diaphyseal scler... OMIM:122860
Apert Syndrome
Optic atrophy, Broad thumb, Toe syndactyly, Finger syndactyly, Cervical C5/C6 vertebrae fusion, A... ORPHA:87
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Increased susceptibility to fractures, Dysphagia, Abnormal posturing OMIM:304700
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, Joint hypermobili... ORPHA:2475
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Mucolipidosis Type Iii Alpha/Beta
Joint stiffness, Diastasis recti, Right ventricular hypertrophy, Kyphoscoliosis, Short neck, Gene... ORPHA:423461
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Joint hypermobility, Abn... ORPHA:915
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Hepatomegaly... OMIM:253000
Chromosome 1P36 Deletion Syndrome, Distal
Lateral ventricle dilatation, Agenesis of corpus callosum, Ventricular septal defect, Bicuspid ao... OMIM:607872
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
1P36 Deletion Syndrome
Delayed cranial suture closure, Myopathy, Agenesis of corpus callosum, Polyphagia, Foot polydacty... ORPHA:1606
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses... OMIM:608728
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Agenesis of corpus callosum, Ventricular septal defect, Radioulnar synosto... OMIM:194190
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Abnormal fifth cranial nerve morphology, Increased circulating I... ORPHA:449563
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricul... OMIM:300967
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Ventricular septal def... OMIM:312870
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Right ventricular hypertrophy ORPHA:70589
Huntington Disease-Like 1
Abnormal shoulder morphology, Restlessness, Abnormal posturing ORPHA:157941
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Right atrial enlargement, Mitral valve prolapse OMIM:620233
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o... ORPHA:90650
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Short neck, Small thenar eminence, Atrial septal defect, Hip dislocati... OMIM:613458
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... OMIM:614524
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... OMIM:151210
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ... OMIM:218600
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology, Dysphagia, Impul... ORPHA:280195
Zttk Syndrome
Optic atrophy, Small hand, Cervical ribs, Ventricular septal defect, Rib fusion, Dysplastic corpu... OMIM:617140
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... OMIM:300232
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... ORPHA:1120
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Joint dislocation, ... ORPHA:582
Cornelia De Lange Syndrome 6
Pectus carinatum, Short 1st metacarpal, Delayed skeletal maturation, Atrioventricular canal defec... OMIM:620568
Mosaic Trisomy 14
Short neck, Narrow chest, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology... OMIM:109400
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Robinow Syndrome
Short distal phalanx of finger, Fused thoracic vertebrae, Abnormal heart morphology, Ventricular ... ORPHA:97360
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Decreased calvarial ossification, Ventricular septal defect, Joint hyperm... ORPHA:2772
Verheij Syndrome
Short 5th finger, Clinodactyly, Ventricular septal defect, Truncus arteriosus, Joint hypermobilit... OMIM:615583
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... OMIM:618395
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Flared metaphysi... OMIM:187601
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Stillbirth, Thoracic hypoplasia, Advanced tars... OMIM:269250
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla... OMIM:187600
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Failure to thrive in infancy, Reduced delayed hypersensitivity, ... OMIM:617241
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Brachydactyly, Proximal symphal... OMIM:610017
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... ORPHA:2876
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Chops Syndrome
Optic atrophy, Tracheomalacia, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Cer... OMIM:616368
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Narrow chest, Anisospondyly, Short thorax, Delay... ORPHA:2484
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Skeletal muscle atrophy, Slender long bone, Abnormal form of the ve... ORPHA:1486
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Flexion contracture of toe, Small hand, Proportionate shortening of all digits, Proximal muscle w... ORPHA:280633
Cog1-Cdg
Posterior rib gap, Osteopenia, Hepatosplenomegaly, Butterfly vertebrae, Vertebral segmentation de... ORPHA:263508
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... ORPHA:90652
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies, Abnormal cardiac s... ORPHA:93941
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... ORPHA:2319
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Parachute mitral valve, Tetralogy of Fallot, Atrioventricular canal defec... OMIM:265380
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Splenomegaly, Cardiomegaly, Aggressive behavior, Ovoid thoracolumbar vertebrae, ... OMIM:252920
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Synostosis involving the 1st metacarpal, Pseudobulbar paralysis, Talipes valgus, Abnormal left ve... ORPHA:466791
3M Syndrome
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation,... ORPHA:2616
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Situs inversus totalis, Agenesis of corpus callosum, Dysplastic corpus callosum, Flexi... OMIM:614833
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morp... OMIM:602196
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Congenital d... ORPHA:1488
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Sprengel anomaly, Hydrocephalus, Brachydactyly... ORPHA:2180
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, H... OMIM:253010
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Ventricular septal defect, Beaking of vertebra... OMIM:150250
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... OMIM:244600
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf muscle hypertro... OMIM:607155
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, M... ORPHA:3082
Lateral Meningocele Syndrome
Decreased muscle mass, Sclerosis of skull base, Biconcave vertebral bodies, Ventricular septal de... OMIM:130720
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Hyperextensibility at elbow, Absent thumb, Slender long bone, Lateral ventricle di... ORPHA:500150
Koolen-De Vries Syndrome
Slender finger, Kyphosis, Prominent fingertip pads, Sacral dimple, Spondylolisthesis, Ventricular... OMIM:610443
Dysosteosclerosis
Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, Irregular ver... OMIM:224300
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bell-s... OMIM:200600
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, ... ORPHA:3027
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Broad clavicles, Platyspondyly, Irregular acetabular roof, Broad ribs, Gen... OMIM:619698
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Anomalous pulmonary venous return, Right ventricular dilatation, Unroof... ORPHA:99104
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Irre... OMIM:602111
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly, Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Abnormal posturing, Multiple joint contractures, Hyperlordosis, Torticollis, Facial pa... OMIM:128100
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Short neck, Short thorax... ORPHA:93298
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Meckel Syndrome, Type 7
Aortic valve stenosis, Postaxial foot polydactyly, Hepatosplenomegaly, Situs inversus totalis, At... OMIM:267010
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia... ORPHA:2911
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic il... OMIM:300863
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Hy... OMIM:616897
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Increased susceptibility to fractures, Attention deficit hyperactivity disord... ORPHA:216866
Severe Congenital Nemaline Myopathy
Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Abnormal thorax morphology, Facial diplegia,... ORPHA:171430
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Prune Belly Syndrome
Congenital hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Vertebral segmentatio... ORPHA:2970
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Splenomegaly, Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Bea... OMIM:252930
Koolen-De Vries Syndrome
Kyphosis, Overfriendliness, Vertebral segmentation defect, Arachnodactyly, Bicuspid aortic valve,... ORPHA:96169
Renpenning Syndrome
Skeletal muscle atrophy, Joint stiffness, Abnormal thumb morphology, Sprengel anomaly, Abnormal r... ORPHA:3242
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Overlapping toe, Contracture of the distal interphalangeal j... ORPHA:83617
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... ORPHA:2234
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Delayed skeletal... ORPHA:93317
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hypermobility, Arachnodactyly, Missing ribs, Hemiver... ORPHA:2759
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Skeletal muscle atrophy, Limitation of joint mobility, Abnormal rib morphology,... ORPHA:3068
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Hypophosphatasia
Narrow chest, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metap... ORPHA:436
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypopl... ORPHA:2916
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Narrow chest, Prolonged bleeding time, Decreased calvarial ossificatio... OMIM:616229
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Right ventricular dilatation, Abnormal mitral valve morphology ORPHA:99103
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Hyperactivity, Hepatomegaly, Asymme... OMIM:252900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Shor... OMIM:617895
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, B... OMIM:271640
Achondrogenesis Type 1A
Narrow chest, Abnormal enchondral ossification, Multiple rib fractures, Short neck, Short thorax,... ORPHA:93299
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Cleidocranial Dysplasia
Hypoplastic scapulae, Genu valgum, Decreased skull ossification, Abnormal metacarpal morphology, ... ORPHA:1452
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn... ORPHA:3035
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... ORPHA:2021
Cole-Carpenter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Joint hypermobility, Bowing of the long bones, W... ORPHA:2050
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Ventricular septal def... ORPHA:79345
Trisomy 1Q
Toe syndactyly, Short thorax, Camptodactyly of finger, Preaxial hand polydactyly, Congenital diap... ORPHA:261344
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... OMIM:615220
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... OMIM:240500
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Delayed skeletal ... ORPHA:1517
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Morgagni diaphragmatic hernia, Sandal gap, Tracheomalacia, Posterolateral diaphragmat... OMIM:613177
Trisomy 13
Optic atrophy, Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Ventricular se... ORPHA:3378
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Rib exostoses, 2-4 toe syndactyly, Avascular necrosis of the capital femoral epiphysi... OMIM:150230
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o... ORPHA:73230
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... OMIM:620076
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Right ventricular dilatation, Osteomyelitis ORPHA:70591
Hurler Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormal epiphysis morphology,... ORPHA:93473
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology, Craniosynostosis ORPHA:2145
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Short neck, Hepato... OMIM:253220
Simpson-Golabi-Behmel Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Agenesis of corp... ORPHA:373
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl... ORPHA:958
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... OMIM:200610
Myhre Syndrome
Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla... OMIM:139210
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Aplasia/Hypoplasia involving the pelvis, Agenesis of corpus callosum, Missing ribs... ORPHA:3301
Viss Syndrome
Recurrent joint dislocation, Genu valgum, Mitral valve prolapse, Contracture of the proximal inte... OMIM:619472
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Delayed skeletal maturation, Delayed cranial suture closure, Decreased sku... ORPHA:93324
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Congenital diaphra... ORPHA:1834
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Broad hallux, Clinodactyly, Optic disc coloboma, Patent foramen ovale, Thoracic scoliosis, Atrial... OMIM:620186
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Abnorma... ORPHA:444077
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth OMIM:152800
Osteogenesis Imperfecta, Type Iii
Thin ribs, Kyphosis, Slender long bone, Bowing of limbs due to multiple fractures, Tibial bowing,... OMIM:259420
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, He... OMIM:253200
Mosaic Trisomy 8
Narrow chest, Limitation of joint mobility, Camptodactyly of finger, Patellar aplasia, Agenesis o... ORPHA:96061
Cole-Carpenter Syndrome 2
Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyph... OMIM:616294
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Atrial septal defect,... OMIM:250220
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Femoral b... ORPHA:83
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Short ribs, H... ORPHA:2347
Three M Syndrome 2
Thin ribs, Short 5th finger, Pectus carinatum, Slender long bone, Clinodactyly, Delayed skeletal ... OMIM:612921
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Diastasis recti, Splenomegaly, Ventricular septal defect, Kyphosco... OMIM:608149
Ellis-Van Creveld Syndrome
Common atrium, Capitate-hamate fusion, Postaxial foot polydactyly, Pectus carinatum, Narrow chest... OMIM:225500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Failure to thrive, Lack of T cell function ORPHA:277
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Ventricular septal defect, Short ribs, Atrial septal def... ORPHA:2519
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... ORPHA:163966
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormal heart valve morphology, Broad ribs, Joint stiffness, Genu valgum, ... ORPHA:583
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Delayed skeletal maturatio... ORPHA:52
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Cardiomyopathy, Broad ribs, Irregular ca... OMIM:252600
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Short neck, Ovoid thoracolumbar vertebrae, Hepatomegaly, Restlessness, Dysp... OMIM:252940
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Decreased T cell activation, Obesity ORPHA:66628
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Lateral ventricle dilata... OMIM:263520
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Ventricular septal defect, Neonatal death, Short neck, Hepatomegaly, Holopr... OMIM:269860
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Slender long bone, Delayed skeletal maturation, Decreased skull ossificati... OMIM:244460
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Joint stiff... OMIM:230500
Osteogenesis Imperfecta, Type X
Thin ribs, Osteopenia, Narrow chest, Platyspondyly, Thoracic hypoplasia, Broad ribs, Genu valgum,... OMIM:613848
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Narrow chest, Stiff neck, Broad ribs, Overlapping... OMIM:617022
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Decreased T cell activation, Obesity ORPHA:179494
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Failure to thrive, Abnormal c... OMIM:308230
Xylt1-Cdg
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility,... ORPHA:370930
Stuve-Wiedemann Syndrome 1
Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body... OMIM:601559
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Aq... OMIM:306955
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Congenital diaphra... ORPHA:1647
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Optic disc coloboma, Femoral... OMIM:608940
Mucopolysaccharidosis Type 3
Genu valgum, Abnormal mitral valve morphology, Hepatomegaly, Dysphagia, Avascular necrosis of the... ORPHA:581
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impaired... OMIM:614576
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Schwartz-Jampel Syndrome
Elbow dislocation, Genu valgum, Hip contracture, Myopathy, Bowing of the long bones, Short neck, ... ORPHA:800
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
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Platyspondyly, Scoliosis, Abnormal epiphysis morphology, Metap... ORPHA:85167
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Osteopenia, Thin metatarsal cortices, Thin metacarpal cortices, Hypoplasia of the musc... ORPHA:2463
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... ORPHA:95699
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:607594
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S... OMIM:620601
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Short neck, Atria... OMIM:609945
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Vici Syndrome
Dilated cardiomyopathy, Abnormal posturing, Cardiomyopathy, Myopathy, Agenesis of corpus callosum... OMIM:242840
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Mitral valve prol... ORPHA:666
Idiopathic Pulmonary Arterial Hypertension
Ankle swelling, Right ventricular hypertrophy ORPHA:275766
Osteogenesis Imperfecta, Type Viii
Thin ribs, Osteopenia, Platyspondyly, Kyphosis, Radial bowing, Slender long bone, Femoral bowing,... OMIM:610915
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Vertebral hyperostosis, Genu... ORPHA:89936
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C2/C3 vertebral fus... OMIM:211380
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Pectus carinatum, Joint contracture of the hand, Osteopenia, Genu recurvatum, Genu val... OMIM:182212
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long bo... OMIM:617952
Sporadic Infantile Bilateral Striatal Necrosis
Dysphagia, Titubation, Abnormal posturing, Hypomimic face ORPHA:225147
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Short neck, Hepa... OMIM:620369
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Decreased calvarial ossification, Brachydactyly, Craniosynostosis, ... OMIM:618265
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, A... ORPHA:51608
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, P... ORPHA:2215
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Down-sloping shoulders, Hyperextensible hand joints, Metatarsus add... OMIM:227330
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Centrally nucleated skeletal muscle fibers, Myopathy, Joint hypermobility, Neonatal death OMIM:300219
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... OMIM:600002
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Pseudo-Torch Syndrome 2
Thin ribs, Hepatomegaly, Secundum atrial septal defect, Lateral ventricle dilatation OMIM:617397
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Ar... OMIM:600920
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Broad phala... OMIM:271665
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow... OMIM:151050
Lethal Congenital Contracture Syndrome 5
Thin ribs, Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve co... OMIM:615368
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Fibular aplasia, Ventricular septal defect, Arachnodactyly, Atrial... OMIM:300373
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Narrow chest, Proximal femoral epiphysiolysis, Delayed skeletal maturation, ... OMIM:260400
Sclerosteosis 1
Optic atrophy, Abnormal pelvic girdle bone morphology, Broad clavicles, Deviation of finger, Broa... OMIM:269500
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Tetralogy of Fallot, Abnormal heart morpho... ORPHA:3384
Campomelia, Cumming Type
Clubbing of toes, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly, Abnormal r... ORPHA:1318
Kyphomelic Dysplasia
Platyspondyly, Limitation of joint mobility, Radial bowing, Flared metaphysis, Thoracic hypoplasi... OMIM:211350
Monosomy 9Q22.3
Abnormality of the vertebral column, Cardiac fibroma, Polydactyly, Metopic synostosis, Joint hype... ORPHA:77301
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Alkaptonuria
Aortic valve calcification, Limited hip movement, Intervertebral disk degeneration, Thickened Ach... OMIM:203500
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A... ORPHA:2167
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Coat ... ORPHA:254534
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Overlapping toe, Diastasis recti, Joint hypermobility, Long toe, Flexion con... ORPHA:254528
Aspergillosis
Abnormality of the vertebral column, Osteomyelitis, Abnormal long bone morphology, Eosinophilia, ... ORPHA:1163
Craniometadiaphyseal Dysplasia
Osteopenia, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis of skull base, Genu valgum... OMIM:269300
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bowing, Undulate r... OMIM:618188
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Splenomegaly, Multiple rib ... OMIM:612301
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Kyphosis, Elbow dislocation, Abnormal form of the vertebral bodie... ORPHA:2769
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplastic pelvis, Bell-... OMIM:616300
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi... OMIM:200980
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Rickets, Abnormal rib morphology, Osteomalacia, Abnormal tibia morp... ORPHA:249
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Proximal muscle weakness in lower limbs, Centrally nucleated skeletal muscle fibers, P... ORPHA:169189
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Horizontal ribs, Complete a... OMIM:617925
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel... OMIM:304150
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Cervical spina bifida, Congenital diaphragmat... ORPHA:63260
Pulmonary Hypertension, Primary, 1
Right ventricular hypertrophy OMIM:178600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Dextrocardia
Congenital hip dislocation, Abnormal heart morphology, Situs inversus totalis, Hydrocephalus, Dex... ORPHA:1666
Pyknoachondrogenesis
Abnormal intramembranous ossification, Unossified sacrum, Short iliac bones, Sclerosis of skull b... ORPHA:3003
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... OMIM:208500
Premature Aging Syndrome, Penttinen Type
Thin ribs, Short distal phalanx of finger, Slender long bone, Delayed skeletal maturation, Cervic... OMIM:601812
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Joint stif... OMIM:277600
Trisomy 18
Deviation of finger, Delayed skeletal maturation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:3380
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Decreased skull ossification, Hydrocephalus, Bra... OMIM:602361
Alpha-Mannosidosis, Infantile Form
Hepatosplenomegaly, Genu valgum, Myopathy, Short neck, Bilateral coxa valga, Optic disc pallor, H... ORPHA:309282
Sandifer Syndrome
Abnormal posturing, Torticollis, Decreased cervical spine mobility ORPHA:71272
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Optic nerve compression, Abnormal pulmonary valve mo... ORPHA:667
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular septa... ORPHA:818
Fryns Syndrome
Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Short thumb, Prominent ... OMIM:229850
Myhre Syndrome
Platyspondyly, Abnormal epiphysis morphology, Joint stiffness, Abnormal metaphysis morphology, Br... ORPHA:2588
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra... OMIM:117650
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Lack of T cell func... ORPHA:572
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Toe syndactyly, Finger syndactyly, Joint stiffness, Split hand, Abnormal rib... ORPHA:1300
Hallermann-Streiff Syndrome
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Slende... OMIM:234100
Radio-Renal Syndrome
Abnormal form of the vertebral bodies, Short neck, Hypoplasia of the radius, Brachydactyly, Abnor... ORPHA:3015
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia OMIM:209920
Duane Retraction Syndrome
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Aplasi... ORPHA:233
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad phalanges of the hand, Delayed skeletal maturation, Short finger, El... OMIM:608328
Kagami-Ogata Syndrome
Limitation of joint mobility, Thoracic hypoplasia, Bell-shaped thorax, Diastasis recti, Kyphoscol... ORPHA:254519
Camptodactyly Syndrome, Guadalajara Type 3
Sternocleidomastoid amyotrophy, Small hand, Osteopenia, Broad femoral neck, Delayed skeletal matu... ORPHA:488434
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... OMIM:269150
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Optic atrophy, Broad femoral neck, Broad ribs, Sclerosis of skull base, Optic nerv... OMIM:619727
Osteogenesis Imperfecta, Type Vii
Osteopenia, Narrow chest, Crumpled long bones, Delayed cranial suture closure, Decreased calvaria... OMIM:610682
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:603909
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Dy... OMIM:619127
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Atrial septal defect, Verte... ORPHA:3109
Monosomy 9P
Limitation of joint mobility, Abnormality of the vertebral column, Abnormality of the tarsal bone... ORPHA:261112
Fetal Akinesia Deformation Sequence 1
Thin ribs, Congenital contracture, Slender long bone, Decreased muscle mass, Camptodactyly of fin... OMIM:208150
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Abnormal rib morphology, Pre... OMIM:192350
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Hepatosplenomegaly, Genu valgum, Broad long bone diaphyses, Limited elbow extension, ... OMIM:301066
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Failure to thrive, Decreased lymphocyte proliferation in response to anti-CD3, ... OMIM:600802
Unilateral Polymicrogyria
Abnormal heart morphology, Abnormal posturing, Giant somatosensory evoked potentials, Pseudobulba... ORPHA:268943
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Failure to thrive, Impaired T cell function, Abnormal lymphocyte phy... ORPHA:1830
Coffin-Lowry Syndrome
Pectus carinatum, Bifid sternum, Kyphosis, Delayed skeletal maturation, Tapered finger, Lumbar ky... OMIM:303600
Cranioectodermal Dysplasia 2
Joint hypermobility, Narrow chest, Clinodactyly, Horizontal ribs, Patent foramen ovale, Polydacty... OMIM:613610
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Abnormal clavicle morphology, Situs inversus totalis, Cong... ORPHA:991
Charge Syndrome
Optic atrophy, Bifid femur, Scoliosis, Abnormal tibia morphology, Tetralogy of Fallot, Abnormal c... ORPHA:138
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Optic atrophy, Limitation of joint mobility, Cardiomyopathy, Campt... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Optic atrophy, Limitation of joint mobility, Cardiomyopathy, Campt... ORPHA:217093
Schinzel-Giedion Syndrome
Overlapping toe, Overlapping fingers, Radioulnar synostosis, Short neck, Dysphagia, Sacrococcygea... ORPHA:798
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Abnormality of B cell physiology, Fail... OMIM:613179
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocation, Camptodac... ORPHA:2554
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Atrioventricular canal defect, Horizontal ribs, Splenomegaly... OMIM:617088
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Impaired T cell function OMIM:201100
Sarcoidosis, Susceptibility To, 1
Weight loss, Abnormality of T cell physiology, Optic neuropathy, Increased circulating antibody l... OMIM:181000
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Joint hypermobility, Ab... ORPHA:2907
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Platyspondyly, Patellar dislocation, Abnormal epiphysis morphology, Kyph... ORPHA:534
Orotic Aciduria
Failure to thrive, Impaired T cell function OMIM:258900
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Failure to thrive OMIM:242700
Charge Syndrome
Ventricular septal defect, Overriding aorta, Radial head subluxation, Atrial septal defect, Absen... OMIM:214800
Townes-Brocks Syndrome
Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Broad thumb, Toe synd... ORPHA:857
Ulbright-Hodes Syndrome
Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Humeroradial synostosis, Short hume... ORPHA:3404
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Congenital hip dislocation, Progressive congenital scoliosis, Osteopenia, Joint disloc... OMIM:225400
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short 4th metacarpal, Abnormal ... ORPHA:2908
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Block vertebrae, Occipital encephalocele, Cervical ribs, Tetral... OMIM:164210
Alagille Syndrome 1
Short distal phalanx of finger, Tetralogy of Fallot, Ventricular septal defect, Butterfly vertebr... OMIM:118450
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Increased circulating IgE level, Decreased T cell activation, Defective T cell... OMIM:618213
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Hypoplastic ilia, Generalized amyotrophy, Narrow chest, Secundum atrial septal defect,... OMIM:264090
Immunodeficiency 58
Decreased T cell activation, Decreased circulating antibody level, Decreased specific antibody re... OMIM:618131
Coccidioidomycosis
Abnormality of the vertebral column, Broad ribs, Osteomyelitis, Abnormal long bone morphology, Eo... ORPHA:228123
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Oligoclonal T cell ... ORPHA:83471
Restrictive Dermopathy
Thin ribs, Osteopenia, Camptodactyly of finger, Increased anterioposterior diameter of thorax, Mu... ORPHA:1662
22Q11.2 Deletion Syndrome
Optic atrophy, Failure to thrive, Impaired T cell function, Obesity, Aganglionic megacolon ORPHA:567
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Cranial nerve compression, Osteopetrosis, Hepatomegaly, Prominent floating ribs, P... ORPHA:2785
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Myelomeningocele, Wide pubic symphysis, Encephalocele, Vertebr... ORPHA:2052
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Impaired T cell function OMIM:176690
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Digeorge Syndrome
Obesity, Impaired T cell function OMIM:188400
Kallmann Syndrome
Obesity ORPHA:478
Brugada Syndrome
ORPHA:130
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
OMIM:614897

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.

Order Mouse and ES Cells

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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
Sema3atm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sema3atm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sema3atm40251(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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