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Gene: Sema3a MGI:107558

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
OMIM:614897
Brugada Syndrome
ORPHA:130

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
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa... ORPHA:2345
Poland Syndrome
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Dextrocardia,... OMIM:173800
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Block vertebrae, Dextrocardia, Abnormal odontoid process mo... OMIM:613686
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... ORPHA:3268
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 verteb... OMIM:214300
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc... OMIM:305620
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Right... OMIM:253700
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... ORPHA:2522
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Accelerated skeletal maturation, Kyphosis, Abnor... ORPHA:1354
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Achilles tendon contractur... ORPHA:353
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal... ORPHA:1988
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Left atrial enlargement, Limited elbow movement, Delayed closure of the ant... OMIM:614008
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Lamb-Shaffer Syndrome
Hyperactivity, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Abnorma... ORPHA:530983
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Facial palsy, Left atrial enlargemen... OMIM:619424
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... OMIM:108720
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Patent fora... OMIM:616028
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Squared iliac bones, Rib fusion, Post... OMIM:611209
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Chromosome 6Q24-Q25 Deletion Syndrome
Prominent fingertip pads, Sandal gap, Hydrocephalus, Dysplastic tricuspid valve, Small hand, Mitr... OMIM:612863
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Abnormal optic d... ORPHA:508498
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short neck, Patent foramen ovale... OMIM:609053
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Atrial septal defect, Ag... OMIM:615219
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... ORPHA:324604
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Congenital Gerbode Defect
Ventricular septal defect, Ankle swelling, Right atrial enlargement, Perimembranous ventricular s... ORPHA:99095
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ... ORPHA:268
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... OMIM:118100
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopathy, Myopathy, Cervical C2/C... OMIM:616549
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Pectus excavatum, Mitral valve prolapse, Scoliosis, Joint hypermobility, R... ORPHA:555877
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Squared iliac bones, H... OMIM:618000
Familial Congenital Mirror Movements
Fused cervical vertebrae, Agenesis of corpus callosum ORPHA:238722
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Short thorax, Short long bone, Vertebral ... OMIM:618845
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, Proximal place... ORPHA:93267
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Scapular winging, Lumbar hyperlordosis, Pica, Pectus carinatum, Lumbar scoliosis, ... OMIM:617796
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Ab... ORPHA:66637
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Craniosynostosis, Rib fusion, Abnormal heart morph... ORPHA:261197
Pontine Tegmental Cap Dysplasia
Facial palsy, Head titubation, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Dysphagia OMIM:614688
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Optic atrophy, Atrial septal defect, Clinodactyly, Pate... OMIM:614261
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... ORPHA:1826
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement OMIM:614022
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Ventricular septal defect, Tapered finger, Flat acetabular roof, Fused cervical ve... OMIM:617159
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Spina bifi... OMIM:607323
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Abno... ORPHA:2790
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Addictive alcohol use, Left ventricular hype... ORPHA:57777
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema ORPHA:3456
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Aggressive behavior, Optic atrop... ORPHA:313892
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Splenomegaly, Osteolysis, Fused cervical vertebrae, Join... OMIM:612852
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... ORPHA:392
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hyperlordosis, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrop... ORPHA:369840
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... OMIM:274000
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Muscular ventricular septal defect, Fused cervical vertebrae, Attention deficit... OMIM:619227
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus ex... ORPHA:2990
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Scoliosis ORPHA:369847
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... OMIM:101200
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... ORPHA:1801
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Myocardial sarcomeric disarray, Right atrial enlargement OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 27
Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ... OMIM:618052
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Missing... OMIM:206900
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Abnormal heart morp... ORPHA:1445
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy... ORPHA:75249
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Facial palsy, Limited wrist e... ORPHA:98915
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Aggressive behavior, Dysplastic corpus callosum, Rib ... ORPHA:544488
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph... ORPHA:93351
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Congenital malformation of the... ORPHA:2332
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Sacral di... OMIM:213980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Clubbing of toes, Right ventricular dilatation, Clubbing of fingers, Lef... ORPHA:99106
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Hepatomegaly ORPHA:422
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... OMIM:178110
Cardiomyopathy, Familial Hypertrophic, 26
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement OMIM:617047
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Kyphosis, Dysplastic tricusp... ORPHA:1724
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Dystonia 31
Abnormal posturing, Dysphagia OMIM:619565
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor... ORPHA:563
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Optic atrophy, Cox... OMIM:602271
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Frontometaphyseal Dysplasia 2
Hip contracture, Neurogenic bladder, Decreased muscle mass, Bicuspid aortic valve, Elbow contract... OMIM:617137
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Cranial nerve compress... ORPHA:268882
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Ventricular septal defect, Hip dysplasia, Arthrogryposis multiplex congenita, Right... OMIM:613404
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Delayed skeletal maturation, Bell-shaped thorax, Atrial septal defect, Abnormal posturing, Horizo... OMIM:614857
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Tapered finger, Type 1 muscle fiber predominance,... OMIM:612949
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Spina bifida, Partial agenesis of the... OMIM:304050
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid valve morphology,... ORPHA:1507
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Hip dysplasia, Atrial septal defect, Arthrogryposis multiplex congenit... OMIM:208085
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... ORPHA:280
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Atrial sept... OMIM:617190
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Symphalangism affec... ORPHA:628
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy OMIM:619705
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Aicardi Syndrome
Block vertebrae, Missing ribs, Partial agenesis of the corpus callosum, Optic disc coloboma, Rib ... ORPHA:50
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Congenital diaphra... OMIM:157800
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Short ne... ORPHA:1780
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand... OMIM:146510
Kbg Syndrome
Syndactyly, Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... OMIM:148050
Alg9-Cdg
Hepatomegaly, Torticollis, Prominent metopic ridge, Ventricular septal defect, Delayed cranial su... ORPHA:79328
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Humeroradial s... OMIM:134780
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2475
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Ili... ORPHA:239
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... OMIM:228520
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Right ventricular hypertrophy ORPHA:70589
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Decreased skull ossificatio... ORPHA:2097
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Clinodactyly of the 5th finger, Agenesis of corpus c... OMIM:607872
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Optic atrophy, Diap... OMIM:122860
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyop... OMIM:300967
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Atrial septal defect, Abnormal repe... OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Accelerated skeletal maturation, Pectus carinatum, Vertebral seg... OMIM:312870
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Clubbing of fingers, Right ventricular hypertrophy ORPHA:335
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
1P36 Deletion Syndrome
Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Agenesis of corpus callosum, Dila... ORPHA:1606
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hydrocephalus, Optic atrophy,... ORPHA:87
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Anomalous pulmonary venous return ORPHA:99105
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Right atrial enlargement, Mitral valve prolapse OMIM:620233
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Atrial septal defect, Tapered finger, Short thumb, Short... OMIM:613458
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures, Abnormal posturing, Intrinsic hand muscle atrophy, Dysphagia OMIM:304700
Aarskog-Scott Syndrome
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Small ... ORPHA:915
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Abnormal fifth cranial nerve morphology, Increased circulating I... ORPHA:449563
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Abnormal bo... ORPHA:93315
Atrial Septal Defect, Coronary Sinus Type
Right ventricular dilatation, Anomalous pulmonary venous return, Unroofed coronary sinus, Right a... ORPHA:99104
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal thu... ORPHA:1120
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Recurrent fractures, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2772
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Agenesis of corpus callosum, A... OMIM:218600
Huntington Disease-Like 1
Abnormal shoulder morphology, Restlessness, Abnormal posturing ORPHA:157941
Zttk Syndrome
Ventricular septal defect, Craniosynostosis, Dysplastic corpus callosum, Kyphosis, Flexion contra... OMIM:617140
Verheij Syndrome
Joint laxity, Vertebral fusion, Truncus arteriosus, Ventricular septal defect, Optic nerve hypopl... OMIM:615583
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Ventricular septal defect, Kyphoscoliosis, M... ORPHA:97360
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Abnormal heart valve morphology, Coxa valga, Short n... ORPHA:582
Septopreoptic Holoprosencephaly
Impulsivity, Abnormal rib morphology, Dysphagia, Abnormal vertebral morphology, Ethmoidal encepha... ORPHA:280195
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ... ORPHA:2876
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Brachydactyly, Proportionate shortening of all digits, Tapered finger, Short neck, Patent foramen... ORPHA:280633
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology ORPHA:276422
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spin... OMIM:109400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox... OMIM:608940
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Decreas... OMIM:151210
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... OMIM:300232
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology, Abnormal rib morpholo... ORPHA:93941
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Thickened ribs, Cardiomegaly, Aggressive behavior, Splenomegaly, Joi... OMIM:252920
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Chops Syndrome
Ventricular septal defect, Splenomegaly, Optic atrophy, Anomalous pulmonary venous return, Trache... OMIM:616368
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Anisospondyly, Short thorax, Abnormal rib morphology, Hip d... ORPHA:2484
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs... ORPHA:1488
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... OMIM:618395
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Diastasis recti, Partia... OMIM:265380
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Coxa valga, Short neck, Rib fusion,... ORPHA:263508
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Joint laxity, Ventricular septal defect, Kyphoscoliosis, Aggressive behavior, Dysp... ORPHA:466791
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Lateral clavic... OMIM:269250
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib ... ORPHA:1486
Atrial Septal Defect, Ostium Secundum Type
Right ventricular dilatation, Abnormal mitral valve morphology, Right atrial enlargement ORPHA:99103
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... OMIM:187600
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... OMIM:171480
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, M... OMIM:607155
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ri... OMIM:619698
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... OMIM:150250
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... OMIM:617241
Viss Syndrome
Generalized joint laxity, Pectus carinatum, Right ventricular dilatation, Atrial septal defect, P... OMIM:619472
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Decreased muscle mass, Ventricular septal defect, Bicuspid ... OMIM:130720
Meckel Syndrome, Type 7
Situs inversus totalis, Hepatosplenomegaly, Postaxial foot polydactyly, Atrial septal defect, Aor... OMIM:267010
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Car... OMIM:616897
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... ORPHA:2180
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular dilatation, Osteomyelitis, Right atrial enlargement ORPHA:70591
Koolen-De Vries Syndrome
Prominent fingertip pads, Hyperactivity, Vertebral fusion, Ventricular septal defect, Bicuspid ao... OMIM:610443
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... ORPHA:3082
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hyperextensibility at elbow, Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Sagitt... ORPHA:500150
Cartilage-Hair Hypoplasia
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v... ORPHA:175
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Beaded ribs, Bowing of the legs, Short neck, Abnormal han... OMIM:200600
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Caudal Regression Syndrome
Decreased muscle mass, Impulsivity, Missing ribs, Joint stiffness, Abnormal iliac wing morphology... ORPHA:3027
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Abnormal rib morphology,... ORPHA:2970
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Dysplastic corpus callosum, Flexion contracture, Thin ribs, Agenesis of c... OMIM:614833
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, De... OMIM:602111
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Dysph... OMIM:128100
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... OMIM:215140
Achondrogenesis Type 1B
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, ... ORPHA:93298
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal interpha... ORPHA:83617
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid... OMIM:252930
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... ORPHA:93317
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Bicuspid aortic valve, Pectus excavatum, Kyphosis, Hip dislocat... ORPHA:96169
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis, Bra... ORPHA:377
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea... OMIM:300863
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... ORPHA:171430
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar v... OMIM:252900
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavic... OMIM:617895
Renpenning Syndrome
Skeletal muscle atrophy, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal r... ORPHA:3242
Trisomy 1Q
Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hern... ORPHA:261344
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal fe... OMIM:271640
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Increased susceptibility to fractures, Attention deficit hyperactivity disorde... ORPHA:216866
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Hyperlordosis, Delayed s... ORPHA:3068
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... ORPHA:436
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Osteopenia, Joint laxity, Sandal gap, Morgagni diaphragmatic... OMIM:613177
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... ORPHA:1517
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Ca... ORPHA:79345
Trisomy 13
Ventricular septal defect, Kyphosis, Postaxial hand polydactyly, Optic atrophy, Abnormal rib morp... ORPHA:3378
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Congenital muscular torticollis, Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand po... ORPHA:2916
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... ORPHA:93299
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Syndactyly, Scapular winging, Short metacarpal, Bicuspid aortic valve, Thoracolumbar ... OMIM:150230
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hepatomegaly, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Hypoplastic aceta... OMIM:620076
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Cleidocranial Dysplasia
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku... ORPHA:1452
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Aqueductal stenosis, Sple... ORPHA:3035
Hurler Syndrome
Abnormal clavicle morphology, Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of fin... ORPHA:93473
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal mat... ORPHA:373
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Abnormal f... ORPHA:73230
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Paroxysmal... ORPHA:672
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... OMIM:253220
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Broad hallux, Facial palsy, Optic disc coloboma, Atrial septal defect, Clinod... OMIM:620186
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Kagami-Ogata Syndrome
Hepatomegaly, Long clavicles, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Coxa va... OMIM:608149
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Cole-Carpenter Syndrome
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Recurrent fractures, ... ORPHA:2050
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardi... OMIM:139210
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Ventricular septal defect, Tracheomalacia, Small hand, Fibular hyp... ORPHA:444077
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum ... ORPHA:2519
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Abnormally ossified vertebrae, Missing ribs, Hydrocephalus, Optic atrophy,... ORPHA:3301
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co... ORPHA:958
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint ... ORPHA:583
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... ORPHA:93324
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Pe... OMIM:225500
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Congenital diaphragmatic hernia, Missing ribs, Short neck, Hydrocephalus... ORPHA:1834
Alagille Syndrome
Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Delayed skeletal maturation, Abn... ORPHA:52
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... OMIM:252940
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Recurrent fractu... OMIM:616229
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Limitation of joi... ORPHA:96061
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Short... OMIM:230500
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polyd... OMIM:263520
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Overlapping fingers... OMIM:617022
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, ... OMIM:269860
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... OMIM:612921
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... ORPHA:83
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... ORPHA:163966
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Hydrocephalus,... OMIM:616294
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Increased circulating IgE level, Lack of T cell function ORPHA:277
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... OMIM:306955
Idiopathic Pulmonary Arterial Hypertension
Ankle swelling, Right ventricular hypertrophy ORPHA:275766
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Obesity, Orthostatic hypotension due to autonomic dysfunction ORPHA:66628
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Xylt1-Cdg
Joint dislocation, Hepatomegaly, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flare... ORPHA:370930
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Apl... ORPHA:1647
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Obesity, Orthostatic hypotension due to autonomic dysfunction ORPHA:179494
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Aganglionic megacolon, Toe synda... ORPHA:959
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... ORPHA:2463
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... OMIM:308230
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Jo... OMIM:613848
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Ab... ORPHA:666
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia... OMIM:601559
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... OMIM:203500
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Dysphagia, Atrial septal defect, Abnormal postu... OMIM:242840
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Incr... ORPHA:800
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... OMIM:619636
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislo... OMIM:182212
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Optic atrophy, Impaired... OMIM:614576
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... OMIM:300853
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Abnormal form of the vertebral b... ORPHA:581
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... OMIM:617952
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Abnormality of the knee, Osteomalacia, Cardiomegaly, Pericardial effusio... ORPHA:51608
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... ORPHA:85167
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn... ORPHA:95699
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Vacterl/Vater Association
Finger syndactyly, Occipital encephalocele, Abnormal intervertebral disk morphology, Congenital d... ORPHA:887
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... OMIM:610915
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, P... OMIM:224690
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Coat hanger sign of ribs, ... ORPHA:254534
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Hepatomegaly, Lateral ventricle dilatation, Thin ribs OMIM:617397
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Osteopathia Striata With Cranial Sclerosis
Partial agenesis of the corpus callosum, Osteopathia striata, Craniofacial osteosclerosis, Atrial... OMIM:300373
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing, Dysphagia, Hypomimic face ORPHA:225147
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ... OMIM:618265
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Finger syndactyly, Arachnodactyly, Camp... ORPHA:2215
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Short neck, Flexion contracture, Generalized amyotrophy, Hepatomegaly, Scapul... OMIM:620369
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Hype... OMIM:227330
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Thin ribs, Myopathy, Neonatal death, Joint hypermobility OMIM:300219
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr... OMIM:600920
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal scle... OMIM:260400
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... OMIM:114290
Elsahy-Waters Syndrome
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Increased ... OMIM:211380
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Monosomy 9Q22.3
Hyperactivity, Rhabdomyosarcoma, Short neck, Pectus excavatum, Accelerated skeletal maturation, K... ORPHA:77301
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Short tubular bones of the hand, Vertebra... ORPHA:85184
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Diaphyseal thickening, Broad c... OMIM:151050
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, Flexion contract... OMIM:615368
Pulmonary Hypertension, Primary, 1
Right ventricular hypertrophy OMIM:178600
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wi... ORPHA:96334
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Short neck, Pectus carinatum, Knee flexion contracture, Abnormal calcificatio... OMIM:271665
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Sclerosteosis 1
Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, 2-3 fi... OMIM:269500
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Campomelia, Cumming Type
Hepatomegaly, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morphology... ORPHA:1318
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Joint laxity, Overlapping toe, Diastasis recti, Pectus excavatum, Flexion contracture, ... ORPHA:254528
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros... OMIM:269300
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Hepatomegaly, Femur fracture, Splenomegaly, Hydrocephalus, Optic atrophy,... OMIM:612301
Hyperparathyroidism, Transient Neonatal
Osteopenia, Communicating hydrocephalus, Wide cranial sutures, Short femur, Metaphyseal spurs, Re... OMIM:618188
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Complete atrioventricular canal defect,... OMIM:617925
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Dextrocardia
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal rib mor... ORPHA:1666
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Congenital diaphragmatic hernia, Mi... OMIM:200980
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polyda... OMIM:616300
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Aspergillosis
Osteomyelitis, Eosinophilia, Abnormal rib morphology, Abnormal long bone morphology, Abnormality ... ORPHA:1163
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Spinal canal stenosis, Pulmonic... OMIM:277600
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dys... ORPHA:63260
Occipital Horn Syndrome
Joint laxity, Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Pelvic... OMIM:304150
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Pyknoachondrogenesis
Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac bones, Short thorax, Abnor... ORPHA:3003
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida... ORPHA:3380
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Craniosynostosis, Re... ORPHA:667
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... OMIM:208500
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Fryns Syndrome
Prominent fingertip pads, Aganglionic megacolon, Ventricular septal defect, Proximal placement of... OMIM:229850
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, ... OMIM:601812
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Myhre Syndrome
Brachydactyly, Joint stiffness, Abnormal rib morphology, Skeletal muscle hypertrophy, Platyspondy... ORPHA:2588
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Short neck, Abnormal form of the ve... ORPHA:818
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, Bra... OMIM:602361
Alpha-Mannosidosis, Infantile Form
Osteopenia, Communicating hydrocephalus, Thickened ribs, Short neck, Pectus carinatum, Cortical t... ORPHA:309282
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Delayed skele... OMIM:608328
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Ventricular septal defect, Optic neuropathy, Increased intervertebral spac... OMIM:619727
Duane Retraction Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial han... ORPHA:233
Sandifer Syndrome
Torticollis, Abnormal posturing, Decreased cervical spine mobility ORPHA:71272
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Wormian bones, Short ne... OMIM:269150
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea... ORPHA:1300
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased circulating antibody level, Decreased lymphocyte proliferation... ORPHA:572
Radio-Renal Syndrome
Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Abnormal... ORPHA:3015
Hallermann-Streiff Syndrome
Hyperactivity, Tracheomalacia, Hyperlordosis, Pectus excavatum, Spina bifida, Metaphyseal widenin... OMIM:234100
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Coxa valga, Short neck, Limitation of joint mobility, Bell-shape... ORPHA:254519
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Sternocleidomastoid amyotrophy, Short neck, Delayed skeletal maturation, Abnormal rib... ORPHA:488434
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level ORPHA:353298
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hepatomegaly, Mitral valve calcification, Sandal gap, Delayed cranial suture closure,... OMIM:619127
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia OMIM:209920
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabul... OMIM:610682
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Ventricular septal defect, Spina bifida, Absent radius, Shor... OMIM:192350
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Spina bifida, Situs... ORPHA:991
Monosomy 9P
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormality of the tarsal bones, Sh... ORPHA:261112
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Rocker bottom... OMIM:208150
Unilateral Polymicrogyria
Abnormal posturing, Giant somatosensory evoked potentials, Pseudobulbar paralysis, Abnormal heart... ORPHA:268943
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Tapered finger, Aggressive behavior, Hyperlordosis, Limited elbow extension, Hip di... OMIM:301066
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Failure to thrive, ... OMIM:600802
Cranioectodermal Dysplasia 2
Joint laxity, Hepatomegaly, Syndactyly, Craniosynostosis, Short neck, Pectus excavatum, Splenomeg... OMIM:613610
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Charge Syndrome
Brachydactyly, Facial palsy, Aqueductal stenosis, Abnormal tibia morphology, Optic atrophy, Abnor... ORPHA:138
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... OMIM:303600
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impaired T cell fun... OMIM:613179
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Impaired T cell function, Abnormal lymphocyte physiology, Bone marrow ... ORPHA:1830
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epi... OMIM:617088
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... ORPHA:217085
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Tibial bowing, Broad ribs, Abnormal thorax morphology, ... ORPHA:798
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... ORPHA:217093
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... ORPHA:2554
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Decreased circulat... ORPHA:35078
Charge Syndrome
Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Holoprosencephaly, Atrial septal ... OMIM:214800
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal vertebral morphology, Abnormal pulmonary valve mor... ORPHA:857
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Impaired T cell function OMIM:201100
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morphology, Hip disloc... ORPHA:534
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno... ORPHA:2907
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level, Optic neuropathy, Weight ... OMIM:181000
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
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
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Block verte... OMIM:164210
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Abnormal rib morphology, Hemivertebrae, Atrial... OMIM:118450
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi... OMIM:225400
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Hy... ORPHA:3404
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Short neck, Sec... OMIM:264090
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Dysphag... ORPHA:2908
Coccidioidomycosis
Pericarditis, Osteomyelitis, Eosinophilia, Hydrocephalus, Osteolysis, Abnormal long bone morpholo... ORPHA:228123
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Failure to thri... OMIM:618131
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response t... ORPHA:83471
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Recurrent fractures, Pectus excavatum, Cranial nerve compression, Optic atrophy, Os... ORPHA:2785
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Impaired T cell function, Optic atrophy, Obesity, Failure to thrive ORPHA:567
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
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
Impaired T cell function, Obesity 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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