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Gene: Tbx18 MGI:1923615

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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:
T-box18
Synonyms:
2810404D13Rik,  2810012F10Rik

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 Tbx18 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 Tbx18 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400

The table below shows human diseases predicted to be associated to Tbx18 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d... OMIM:277300
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... OMIM:122600
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, Abnormal ri... ORPHA:1797
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Scoliosis, Abnormality of the e... ORPHA:3268
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios... ORPHA:64755
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... OMIM:613686
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Death in infancy, Abnormal rib morphology, K... ORPHA:1354
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormal r... ORPHA:2790
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis ORPHA:93302
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Short thorax, Camptodactyly of finger, Umbilical hernia, R... ORPHA:2311
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Radioulnar synostosis, Sprengel anomaly, Abnormal rib ... ORPHA:1988
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis ORPHA:93304
Kyphomelic Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Anterior rib cu... ORPHA:1801
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ve... OMIM:618845
Varicose Veins
Varicose veins OMIM:192200
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Sprengel a... ORPHA:40
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Radioulnar synostosis, Elbow ankylosis, Abnormality of the upper urina... ORPHA:3266
Prune Belly Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract in... ORPHA:2970
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the knee, Abnormality of the ankle, Abnormal vertebral morphology ORPHA:163665
Diaphanospondylodysostosis
Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib... ORPHA:66637
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Camp... OMIM:619751
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Narrow chest, Thoracic hypoplasia, Anterior rib cupping, Scoliosis OMIM:602271
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb... ORPHA:1394
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Facial palsy, Scoliosis OMIM:614688
Succinic Acidemia
Respiratory distress OMIM:600335
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Knee osteoarthritis, Beaking of vertebral bodi... OMIM:604864
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyl... ORPHA:2635
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Varicose veins OMIM:126320
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Costochondral joint sclerosis, Enlargement o... OMIM:609052
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifi... OMIM:102510
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excavatum, Scolios... OMIM:259440
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... OMIM:187760
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... ORPHA:1836
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Mu... OMIM:614399
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Abnormal cerebral vascular morphology, Peripheral arteriovenous fistula ORPHA:1053
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Vertebral segmentation defect ORPHA:2578
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Kuskokwim Syndrome
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasi... ORPHA:1149
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Abnormal heart morphology, Congenita... ORPHA:261197
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Abnormal heart mor... OMIM:614954
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... ORPHA:2234
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Hemiverteb... ORPHA:377
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Horizontal ribs, Death in infancy, Short ribs, Trident acetabulum... OMIM:617405
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Prenatal death, Neonatal death, Short neck, Kyphosis OMIM:618393
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Multiple joint dislocation, Knee dislocation, Narrow vertebral interped... OMIM:618395
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Perching Syndrome
Respiratory distress, Camptodactyly, Scoliosis, Joint contracture OMIM:617055
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,... OMIM:265000
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,... OMIM:156530
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Shallow acetabular fossae, Butterfly vertebrae, Thoracic scoliosis, Kyphoscoli... OMIM:611209
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Abnormal sternum morphology, Camptodactyly of finger, Pt... ORPHA:2990
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Optic atrophy, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypopl... ORPHA:168549
Bardet-Biedl Syndrome 16
Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insufficiency, Renal ... OMIM:615993
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited e... OMIM:271650
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology ORPHA:280195
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Pectus carinatum, Vertebral wedging, Bell-shaped thorax, Genu valgum, Kyphoscoliosis OMIM:255710
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Missing ribs, Supernumerary rib... OMIM:206900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ureter, Hyperlordosis, Abnormal rib morphology, ... ORPHA:2522
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Premature osteoarthritis, Abnormal hip joint morphology, Genu... ORPHA:93311
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Myopathy, Type 1 fibers relatively smaller than typ... OMIM:300580
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Penoscrotal Transposition
Penoscrotal transposition, Pectus carinatum, Abnormality of the urethra, Renal agenesis, Cardiomy... ORPHA:2842
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal joint morphology, Genu valg... ORPHA:93351
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Short neck, Abnormal rib morphology ORPHA:93267
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs OMIM:614524
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology ORPHA:1513
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Cupped ribs, Beaking of vertebral bodies, Flat acetabular ro... OMIM:609616
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Umbilical her... OMIM:269250
Aicardi Syndrome
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing ribs, Supernume... ORPHA:50
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Respiratory distress, Increased level of methylsuccinic acid in urine, Myopathy, ... ORPHA:26792
Odontochondrodysplasia 1
Platyspondyly, Genu recurvatum, Pectus carinatum, Nephronophthisis, Scoliosis, Biconvex vertebral... OMIM:184260
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Short ribs, Neonatal death, Wide-c... OMIM:187601
Aicardi Syndrome
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing ribs, Supernume... OMIM:304050
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormality of the elbow ORPHA:1486
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Venous malformation, Varicose veins OMIM:613089
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Short ribs, Stillbirth, Advanced ossification of car... OMIM:215045
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Joint dislocation, Scoliosis, Hypospadias OMIM:300934
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Thin ribs, Respiratory distress, Glandular hypospadia... OMIM:300219
Mosaic Trisomy 14
Narrow chest, Short neck, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Abnormal thorax morphology, Neonatal death OMIM:253310
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Abnormality of the wrist, Radioulnar synostosis, Abnormal rib morp... ORPHA:2319
Holt-Oram Syndrome
Hypoplastic left heart, Abnormal clavicle morphology, Atrioventricular canal defect, Ventricular ... ORPHA:392
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... ORPHA:2180
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Respiratory distress, Broad ribs, Ventricular septal defect, Short r... ORPHA:2519
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Laryngomalacia
Respiratory distress OMIM:150280
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Narrow chest, Flared elbow metaphyses ORPHA:1423
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Mucopolysaccharidosis, Type Iva
Platyspondyly, Pectus carinatum, Cervical myelopathy, Hypoplasia of the odontoid process, Ulnar d... OMIM:253000
White Forelock With Malformations
Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Renal dysplasia, Distal urethral duplication, Ventricular septal d... OMIM:146510
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... OMIM:118100
Immunodeficiency 95
Respiratory distress OMIM:619773
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Delayed cranial suture closure ORPHA:1832
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Rib fusion, Short neck, Beaking of vertebral bodies, Sprengel anomaly, Hemivertebra... OMIM:213980
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Elbow dislocation, Joint d... ORPHA:628
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Odontochondrodysplasia
Platyspondyly, Narrow chest, Respiratory distress, Death in infancy, Scoliosis, Patent ductus art... ORPHA:166272
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Foot dorsiflexor... OMIM:620011
Gjc2-Related Late-Onset Primary Lymphedema
Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins... ORPHA:568051
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Abnormal rib cage morphology, Pectus carinatum, Hypoplasia of the odontoid process... OMIM:184252
Kbg Syndrome
Cervical ribs, Rib fusion, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis OMIM:148050
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Camptodactyly of finge... ORPHA:2021
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology ORPHA:2759
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Limited elbow ex... OMIM:608728
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology ORPHA:276422
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Facial diplegia, Death in adolescence, Papilledema, Thickened ribs OMIM:122860
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracolumbar kyphosis, Thin ribs, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... OMIM:151210
Autosomal Recessive Robinow Syndrome
Pectus carinatum, Multicystic kidney dysplasia, Synostosis of carpal bones, Elbow dislocation, Ca... ORPHA:1507
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormality of the uret... ORPHA:1834
Trisomy 13
Narrow chest, Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Ven... ORPHA:3378
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, C1-C2 subluxati... OMIM:184250
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Tubulointerstitial fibrosis, Cor pulmonale OMIM:263000
Caudal Regression Syndrome
Renal agenesis, Decreased muscle mass, Abnormality of the ureter, Renal insufficiency, Vesicouret... ORPHA:3027
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Sillence Syndrome
Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Flat acetabular r... ORPHA:3168
Achondrogenesis Type 1B
Narrow chest, Abnormal rib morphology, Umbilical hernia, Short neck, Short thorax ORPHA:93298
Cog1-Cdg
Posterior rib gap, Butterfly vertebrae, Kyphoscoliosis, Vertebral segmentation defect, Rib fusion... ORPHA:263508
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Spinal canal stenosis, Genu val... ORPHA:582
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Ab... ORPHA:239
Jeune Syndrome
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Abnormal rib morpholog... ORPHA:474
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiati... OMIM:616733
Phaver Syndrome
Abnormal form of the vertebral bodies, Camptodactyly of finger, Pterygium, Myelomeningocele, Butt... ORPHA:2876
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Left ventricular hypertrophy, Death in infancy OMIM:616974
Alkaptonuria
Aortic valve calcification, Elevated urinary homogentisic acid, Decreased glomerular filtration r... OMIM:203500
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Thoracic hypoplasia, Respiratory distress, Horizontal ribs, Ventricular septal defe... OMIM:617895
Lethal Kniest-Like Dysplasia
Platyspondyly, Narrow chest, Abnormal cartilage morphology, Short ribs, Hypoplastic vertebral bod... ORPHA:2347
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Optic atrophy, Abnormality of the vertebral column, Abnormal form ... ORPHA:280
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Biconcave vertebral bodies, Wormian bones, Vertebral compression fra... OMIM:617952
Prune Belly Syndrome
Congenital hip dislocation, Pectus carinatum, Hydroureter, Hydronephrosis, Pectus excavatum, Apla... OMIM:100100
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia... OMIM:166210
Fibrochondrogenesis 1
Platyspondyly, Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Thoracic hypoplasi... OMIM:228520
Diaphanospondylodysostosis
Thoracic hypoplasia, Nephrogenic rest, Respiratory distress, Horseshoe kidney, Nephroblastomatosi... OMIM:608022
Congenital Pseudoarthrosis Of The Clavicle
Cervical ribs, Situs inversus totalis, Osteoarthritis, Dextrocardia, Congenital pseudoarthrosis o... ORPHA:66630
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral ... OMIM:615633
Osteogenesis Imperfecta, Type Iii
Thin ribs, Protrusio acetabuli, Biconcave vertebral bodies, Wormian bones, Scoliosis, Kyphosis, W... OMIM:259420
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Pectus carinatum, Respiratory distre... OMIM:617303
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Wormian bones, Abnormal rib morphology, Scoliosis, Kyphosis ORPHA:2050
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Thoracic hemivertebrae, Sacral dimple, Delayed cranial suture closure, Umbili... OMIM:268310
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Abnormal heart morphology, Kyphoscoliosis, Hydronephr... ORPHA:97360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Limited elbow extension, Genu varum, Osteoarthritis, Flared... OMIM:602111
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Dilatation of the bladder, Ventricular septal defect, Neonatal de... OMIM:265380
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology ORPHA:50251
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Scoliosis ORPHA:1488
Spinal muscular atrophy, type I, with congenital bone fractures
Congenital hip dislocation, Generalized amyotrophy, Decreased muscle mass, Respiratory distress, ... OMIM:271225
Osteogenesis Imperfecta, Type X
Platyspondyly, Thin ribs, Narrow chest, Thoracic hypoplasia, Respiratory distress, Broad ribs, Ge... OMIM:613848
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Nephrocalcinosis, Narrow chest, Respiratory distress, Irregular ossification... OMIM:260400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Spina bifida, Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Abnormal rib morphology, Delayed cranial suture closure, Vesicourete... ORPHA:2484
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Congenital contracture, Scoliosis, Death in infancy OMIM:615042
Femoral-Facial Syndrome
Hypoplastic acetabulae, Absent vertebra, Renal agenesis, Abnormal renal collecting system morphol... OMIM:134780
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Wormian bones, Sprengel anomal... ORPHA:2097
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Respiratory distress, Myopathy, Spinal muscular atrophy, Weakness of fac... ORPHA:254875
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Genu valgum, Atrial septal defect ORPHA:1035
Thanatophoric Dysplasia, Type I
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Thoracic hypoplasia, Short ribs, N... OMIM:187600
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Sacral dimple ORPHA:544488
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, 11 pairs of ribs, Thin ribs OMIM:300863
3M Syndrome
Thin ribs, Congenital hip dislocation, Enlarged thorax, Increased vertebral height, Horizontal ri... ORPHA:2616
Cole-Carpenter Syndrome 2
Platyspondyly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Thin ribs, Wide cranial sut... OMIM:616294
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs, Umbilical hernia OMIM:252900
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs, Stillbirth OMIM:200610
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Generalized amyotrophy OMIM:613561
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Thin ribs, Hypoplasia of the odontoid process, Kyphoscoliosis, Wormian bones, Shor... OMIM:300232
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Anter... ORPHA:174
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... OMIM:200600
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Garg-Mishra Progeroid Syndrome
Platyspondyly, Thin ribs, Narrow chest, Persistent open anterior fontanelle, Ovoid vertebral bodies OMIM:620601
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia, Abnormal rib morphology ORPHA:195
Dextrocardia
Congenital hip dislocation, Abnormal heart morphology, Abnormality of the ureter, Situs inversus ... ORPHA:1666
Achondrogenesis Type 1A
Narrow chest, Umbilical hernia, Multiple rib fractures, Short neck, Short thorax ORPHA:93299
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macrogl... ORPHA:254864
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Hypoplasia of penis, Abnormal rib morphology, Ventricular septal defect ORPHA:2772
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Facial palsy, Hyperlordosis, Abnormal rib morphology ORPHA:3068
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial instability, Cervical spinal cana... ORPHA:79345
Baller-Gerold Syndrome
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Coronal craniosynostosis, Optic atrop... OMIM:218600
Kniest Dysplasia
Platyspondyly, Respiratory distress, Hip contracture, Lumbar kyphoscoliosis, Genu varum, Pectus e... OMIM:156550
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Zttk Syndrome
Unilateral renal agenesis, Cervical ribs, Horseshoe kidney, Ventricular septal defect, Rib fusion... OMIM:617140
Alagille Syndrome
Abnormal form of the vertebral bodies, Abnormality of the ureter, Vertebral segmentation defect, ... ORPHA:52
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Respiratory distress, Hypertrophic cardiomyopathy, Endocar... OMIM:212140
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Genu recurvatum, Hypoplasia of the odontoid process, Uln... OMIM:177170
Dysosteosclerosis
Platyspondyly, Optic atrophy, Narrow chest, Facial paralysis, Broad ribs, Increased intervertebra... OMIM:224300
Proteus Syndrome
Venous malformation OMIM:176920
Congenital Diaphragmatic Hernia
Respiratory distress, Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of t... ORPHA:2140
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology ORPHA:3082
Radio-Renal Syndrome
Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Renal agenesis, Respiratory ... ORPHA:3015
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Abnormal vertebral morphology, Hypoplastic left heart, Respiratory distres... ORPHA:210122
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Ellis Van Creveld Syndrome
Narrow chest, Hydroureter, Synostosis of carpal bones, Short thorax, Atrioventricular canal defec... ORPHA:289
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins ORPHA:75508
1P36 Deletion Syndrome
Dilated cardiomyopathy, Delayed cranial suture closure, Camptodactyly of finger, Abnormal heart v... ORPHA:1606
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Thoracic hypoplasia, Central vertebral hypoplasia, ... ORPHA:93352
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Multiple pterygia, Vertebral fusion, Abnormal cervical curvature OMIM:312150
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs, Death in infancy ORPHA:163966
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Increased endomysial con... OMIM:620278
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Venous insufficiency, Atrial septal defect, Patent ductus ar... ORPHA:90308
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Horseshoe kidney, Fusion of middle ear ossicles, Muscular ventricular septal d... OMIM:157800
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Gm1-Gangliosidosis, Type I
Thickened ribs, Death in infancy, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral ... OMIM:230500
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea, Right ventricular hypertrophy ORPHA:70589
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Narrow chest, Multiple rib fractures, Wormian bones, Vertebral compression fracture OMIM:616229
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplastic scapulae, Hypoplasia of the odontoid process, Flat g... OMIM:223800
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Ulnar deviation of the wr... OMIM:253010
Campomelia, Cumming Type
Death in infancy, Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Milroy Disease
Abnormal venous morphology, Varicose veins ORPHA:79452
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thickened ribs, Kyphoscoliosis OMIM:252930
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Respiratory distress, Congenital diaphragmatic hernia, Renal dupli... OMIM:613309
Hyperparathyroidism, Transient Neonatal
Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Respiratory distress, Undulate... OMIM:618188
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Pectus carinatum, Delayed cranial suture closure, Respiratory distress, Hypertrophic cardiomyopat... OMIM:619383
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fiber predomin... ORPHA:98915
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Organic aciduria OMIM:614741
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea ORPHA:140896
Silver-Russell Syndrome 1
Delayed cranial suture closure, Abnormality of the ureter, Nephroblastoma, Urethral valve, Hyposp... OMIM:180860
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs OMIM:252920
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Pectus carinatum, Respiratory distress, Abnormal heart valve morphology, P... ORPHA:363705
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Stillbirth OMIM:276950
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Multiple pterygia, Vertebral fusion, Abnormal cervical curvature OMIM:253290
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Proximal tubulopathy, Aminoaciduria OMIM:612075
Mucopolysaccharidosis Type 6
Broad ribs, Genu valgum, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Pectus carinatum, Kyphosis, Respiratory distress, Lumbar hyperlordosis, Barrel-sha... OMIM:183900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Renal insufficiency, Cardiomyopathy ORPHA:79312
Three M Syndrome 2
Thin ribs, Pectus carinatum, Lumbar hyperlordosis, Short neck, Hyperlordosis, Scapular winging, S... OMIM:612921
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormality of the urethra, Abnormality of the upper urinary tract, Abnormal ri... ORPHA:2145
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Pectus carinatum, Respiratory distress, Heparan sulfate excretion in urine, Lumbar ... ORPHA:505248
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Hypertrophic cardiomyopathy, Muscular ventricular ... OMIM:115197
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hip dislocation, Hypoplastic scapulae, Abnormal clavicle morphology,... ORPHA:958
Frontometaphyseal Dysplasia 1
Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral ... OMIM:305620
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Respiratory distress, Hypertrophic cardiomyopathy... OMIM:604377
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Cenani-Lenz Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Elbow di... ORPHA:3258
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Respiratory distress, Hypertrophic cardiomyopathy, Hyperphosphaturia, ... OMIM:220110
Liposarcoma
Varicose veins ORPHA:69078
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Hypoplasia of the musculature, Shoulder flexion contracture, Thoracic hypoplasia, Resp... OMIM:620369
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Missing ribs, Abnormal rib morphology, Septo-optic dysplasia, Abnormally ossified ... ORPHA:3301
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Wide anterior fontanel, Vertebral arch anomaly ORPHA:85184
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death OMIM:615709
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Butterfly vertebrae, Patent foramen ovale, Short ribs, Micropenis, Hypospad... OMIM:607143
Cornelia De Lange Syndrome 6
Pectus carinatum, Posterior rib fusion, Scoliosis, Down-sloping shoulders OMIM:620568
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Thoracic hypoplasia, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydro... OMIM:616897
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Elbow dislocation, Genu valgum, Patellar aplasia, Aplas... OMIM:224690
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Narrow chest, Flat acetabular roof, Short thorax OMIM:617102
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Pulmonic stenosis ORPHA:2414
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Scapular winging, Pectus excavatum, Six lumbar vertebrae OMIM:619122
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Respiratory distress, Weakness of facial musculature,... ORPHA:596
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Muscular dystrophy, Respiratory distress, Knee flexion contracture, Ca... OMIM:608799
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral ... OMIM:615398
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency ORPHA:624
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tach... OMIM:614299
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormality of the ureter, Hypoplasia of penis, Kyphosis, Flexion contra... ORPHA:3409
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Ventricular ... ORPHA:2461
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Narrow chest, Respiratory distress, Lumbar hyperlordosis, Neonatal death, Central ... OMIM:616482
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Poland Syndrome
Ureterocele, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia, Renal hypoplasia... ORPHA:2911
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Occipital encephalocele, Thoracic hypoplasia, Pterygium, Neonatal death OMIM:224410
Isolated Atp Synthase Deficiency
Renal hypoplasia, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, 3-Me... ORPHA:254913
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Hurler Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormal clavicle morphology, ... ORPHA:93473
Noonan Syndrome 4
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephros... OMIM:610733
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth OMIM:152800
Craniometadiaphyseal Dysplasia
Broad ribs, Genu valgum, Wormian bones, Cubitus valgus, Scoliosis, Genu varum, Wide anterior font... OMIM:269300
Trisomy 1Q
Multicystic kidney dysplasia, Abnormal rib morphology, Camptodactyly of finger, Congenital diaphr... ORPHA:261344
Enlarged Parietal Foramina
Venous malformation, Abnormal cerebral vein morphology ORPHA:60015
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Bell-shaped thorax, Horizontal ribs, Tachypnea, Atrial se... OMIM:614857
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... OMIM:252600
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Large placenta, Barrel-shaped chest,... OMIM:215140
Brown-Vialetto-Van Laere Syndrome 1
Skeletal muscle atrophy, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Han... OMIM:211530
Schwartz-Jampel Syndrome
Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Myopathy, Sprengel an... ORPHA:800
Atelosteogenesis, Type I
Narrow chest, Elbow dislocation, Thoracic hypoplasia, Knee dislocation, Thoracic platyspondyly, 1... OMIM:108720
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Respiratory distress, Atrioventricular canal defect, Horseshoe kidney, Horizontal r... OMIM:617088
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract, Hypoplasia of penis... ORPHA:2547
Wolf-Hirschhorn Syndrome
Hip dislocation, Abnormal form of the vertebral bodies, Rib segmentation abnormalities, Rib fusio... OMIM:194190
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea, Pericardial effusion ORPHA:411703
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Venous insufficiency ORPHA:137608
Cantú Syndrome
Platyspondyly, Narrow chest, Umbilical hernia, Broad ribs, Cuboid-shaped vertebral bodies, Short ... ORPHA:1517
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Narrow chest, Abnormal sacral segmentation, Renal agenesis, Apla... OMIM:200980
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Thin ribs, Barrel-shaped chest, Wormian bones, Vertebral compression fracture, Sco... OMIM:610915
Sclerosteosis 1
Optic atrophy, Broad clavicles, Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Pa... OMIM:269500
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Vesicoureteral reflux, Hydronephrosis, Craniosynostosis, Arthrogryposis multiplex cong... OMIM:618265
Renpenning Syndrome
Skeletal muscle atrophy, Sprengel anomaly, Abnormal rib morphology, Pectus excavatum, Hypospadias ORPHA:3242
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Patent ductus ar... OMIM:306955
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Lumbar hyperlordosis, Genu valgum, Short ribs, Carpal bone hypoplasia, Cupped... OMIM:250420
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Abnormal form of the vertebral bodies, Elbow dislocation, Missing ribs, Abnorm... ORPHA:2769
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Scoliosis, Kyphoscoliosis ORPHA:37612
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Atrial septal defect, Patent foramen ovale ORPHA:89844
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Camptodactyly of fin... OMIM:607872
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Genu valgum, Kyphoscoliosis, Carpal bone hypoplasia, Anterio... OMIM:184253
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... OMIM:610921
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Abnormal heart morphology, Apnea, Hypoventilation, Prominent metopic ridge ORPHA:314655
Aneurysm-Osteoarthritis Syndrome
Pectus carinatum, Camptodactyly of finger, Abnormal heart morphology, Osteochondritis dissecans, ... ORPHA:284984
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Cleidocranial Dysplasia
Hypoplastic scapulae, Narrow chest, Genu valgum, Down-sloping shoulders, Short clavicles, Wormian... ORPHA:1452
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea ORPHA:60032
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Cartilage-Hair Hypoplasia
Asymmetry of the thorax, Narrow chest, Hypoplasia of the odontoid process, Flaring of lower rib c... OMIM:250250
Hypophosphatasia
Craniosynostosis, Narrow chest, Abnormal rib morphology ORPHA:436
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Short neck, Missing ribs, Neonatal death OMIM:619859
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Cervical ribs, Horseshoe kidney, Abnormal heart morphology, Lumbar hyp... ORPHA:500150
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Congenital diaphragmati... ORPHA:887
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Joint dislocation, Thoracic hypoplasia, Thoracic platyspon... OMIM:618019
Basal Cell Nevus Syndrome 1
Vertebral wedging, Abnormal sternum morphology, Kyphoscoliosis, Short ribs, Supernumerary ribs, D... OMIM:109400
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Broad ribs, Joint swelling, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Mosaic Trisomy 8
Narrow chest, Camptodactyly of finger, Patellar aplasia, Vertebral segmentation defect, Short nec... ORPHA:96061
Cartilage-Hair Hypoplasia
Pectus carinatum, Narrow chest, Spinal dysraphism, Biconvex vertebral bodies, Abnormal form of th... ORPHA:175
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Ureteral triplication, Mitral valve prolapse, Hydronephrosis, Cubitus... OMIM:104350
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Narrow chest, Cardiomyopathy, Respiratory distress, Abnormal cardiac septum morphology, Hypospadi... OMIM:217980
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Abnormal sternum morphology, Umbilical hernia, Osteochondritis dissecans, Int... OMIM:619656
Diabetic Embryopathy
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Vertebral segmentation defect, Re... ORPHA:1926
Achondroplasia
Thoracic hypoplasia, Respiratory distress, Lumbar hyperlordosis, Limited elbow extension, Death i... OMIM:100800
Parkes Weber Syndrome
Arteriovenous malformation, Vascular tortuosity, Venous malformation, Spinal arteriovenous malfor... ORPHA:90307
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Stroke, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins OMIM:125310
Osteogenesis Imperfecta, Type Vii
Narrow chest, Delayed cranial suture closure, Death in infancy, Wide cranial sutures, Wormian bon... OMIM:610682
Erythrocytosis, Familial, 2
Stroke, Cerebral hemorrhage, Varicose veins OMIM:263400
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Chitayat Syndrome
Respiratory distress, Pectus excavatum OMIM:617180
Severe Congenital Nemaline Myopathy
Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Abnormal... ORPHA:171430
Koolen-De Vries Syndrome
Kyphosis, Vesicoureteral reflux, Renal duplication, Vertebral segmentation defect, Hydronephrosis... ORPHA:96169
Von Willebrand Disease
Gastrointestinal angiodysplasia, Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Respiratory distr... OMIM:231680
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Thin ribs, Hypoplastic acetabulae, Butterfly vertebrae, Short ribs, Short sternum,... OMIM:620076
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Nipah Virus Disease
Respiratory distress ORPHA:99825
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Pectus carinatum, Multiple joint dislocation, Congenital kyphoscoliosis, Respirato... ORPHA:536467
Ellis-Van Creveld Syndrome
Pectus carinatum, Narrow chest, Acetabular spurs, Genu valgum, Horizontal ribs, Short ribs, Atria... OMIM:225500
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress ORPHA:100057
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Diastasis recti, Ventricular septal defect, Kyphoscoliosis, Atrial... OMIM:608149
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Narrow chest, Abnormal thorax morphology, Abnormal form of the vertebral bodies ORPHA:73230
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation, Thoracic scoliosis, Cardiomegaly, Left ventricular ... ORPHA:79330
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea ORPHA:178320
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Mgat2-Cdg
Respiratory distress, Abnormal heart morphology, Ventricular septal defect, Patent ductus arterio... ORPHA:79329
Thymic Carcinoma
Abnormal vena cava morphology ORPHA:99868
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Situs inversus totalis, Dextrocardia OMIM:606763
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis OMIM:612776
Baller-Gerold Syndrome
Abnormality of the ureter, Vesicoureteral reflux, Aplasia/Hypoplasia of the patella, Hydronephros... ORPHA:1225
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Respiratory distress, Abnormal cardiomyocyte mor... ORPHA:367
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology ORPHA:93317
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture, Scoliosis ORPHA:544503
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Abnormality of the... ORPHA:261318
Congenital Myasthenic Syndrome
Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni... ORPHA:98914
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel... OMIM:304150
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Camptodactyly of ... ORPHA:90652
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Joint contracture of the hand, Shallow ace... OMIM:201000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Cervical ribs, Respiratory dis... ORPHA:2255
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Cardiomyopathy, Respiratory distress, Stage 5 chronic kidney disease, Tub... OMIM:251000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Coat ... ORPHA:254534
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Abnormal renal morphology,... ORPHA:83
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Acromesomelic Dysplasia 4
Platyspondyly, Umbilical hernia, Thoracic platyspondyly, Lumbar hyperlordosis, Genu valgum, Thora... OMIM:619636
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Respiratory distress, Episodic tachypnea, Exercise-induced rhabdomyolysis... ORPHA:26793
Avian Influenza
Acute kidney injury, Respiratory distress, Rhabdomyolysis, Tachypnea, Dyspnea, Miscarriage ORPHA:454836
Microphthalmia, Lenz Type
Hydroureter, Abnormal clavicle morphology, Camptodactyly of finger, Abnormal shoulder morphology,... ORPHA:568
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Arthrogryposis multi... OMIM:236500
Moebius Syndrome
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Micropenis, Ca... OMIM:157900
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal inferior vena cava morphology, Abnormal heart morphology, Abnorm... ORPHA:244
Pallister-Hall Syndrome
Unilateral renal agenesis, Bilateral renal agenesis, Renal dysplasia, Atrioventricular canal defe... ORPHA:672
Campomelic Dysplasia
Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Contracture of the distal interp... OMIM:114290
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... OMIM:608978
Codas Syndrome
Congenital hip dislocation, Hydroureter, Abnormal form of the vertebral bodies, Ventricular septa... ORPHA:1458
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Ventricular septal defect ORPHA:1770
Stt3B-Cdg
Respiratory distress ORPHA:370924
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Reduced renal corticomedullary differentiation, Knee flexion contracture, W... OMIM:618733
Gaucher Disease, Perinatal Lethal
Thoracic hypoplasia, Respiratory distress, Apnea, Neonatal death, Cardiomegaly, Arthrogryposis mu... OMIM:608013
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Thin ribs, Joint contracture of the hand, Pectus carinatum, Umbilical hernia, Ge... OMIM:182212
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cardiomyopathy, Respiratory distress, Biventricular hypertrophy, Hypertrophic cardi... OMIM:261740
Smith-Magenis Syndrome
Abnormal form of the vertebral bodies, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnor... ORPHA:819
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Abnormal joint morphology, Horsesho... ORPHA:322
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Patellar hypoplasia, Abnormal hemidiaphragm morphology, Ureteral s... ORPHA:2257
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Abnormal heart morphology, Neonatal death, Hydronephrosis, Fetal megacystis OMIM:619362
Kyphomelic Dysplasia
Platyspondyly, Thoracic hypoplasia, Pterygium, Undulate ribs, Anterior rib cupping, Flat acetabul... OMIM:211350
Vater/Vacterl Association
Abnormal vertebral morphology, Renal agenesis, Abnormal sternum morphology, Renal dysplasia, Tetr... OMIM:192350
Caudal Duplication
Abnormal penis morphology, Bifid sacrum, Renal hypoplasia/aplasia, Vertebral segmentation defect,... ORPHA:1756
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Homocystinuria, Methylmalonic aciduria OMIM:250940
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabulae... OMIM:253200
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea ORPHA:142
Aredyld Syndrome
Abnormality of the ureter, Scoliosis ORPHA:1133
Acquired Methemoglobinemia
Respiratory distress, Dyspnea ORPHA:464453
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... ORPHA:2306
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Respiratory distress, Hydronephrosis, Patent ductus arteriosus, Atrial septal de... OMIM:300968
Kaposi Sarcoma
Venous insufficiency ORPHA:33276
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmonary val... OMIM:612863
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Horseshoe kidney, El... OMIM:117650
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... ORPHA:2215
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Thoracolumbar scoliosis, De... ORPHA:2437
Alfadhel Syndrome
Horseshoe kidney, Nasal flaring OMIM:620655
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cupping, Pectus ... OMIM:271665
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Microlissencephaly-Micromelia Syndrome
Respiratory distress, 11 pairs of ribs, Fetal pyelectasis ORPHA:50810
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Mitral valve prolapse, Aortic... ORPHA:1900
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Glomuvenous Malformation
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation ORPHA:83454
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Optic disc coloboma, Cupped ribs, Severe platyspondyly, Scoliosis, Ovoid vertebral... OMIM:608940
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Amyloidosis, Finnish Type
Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic synd... OMIM:105120
Cerebrocostomandibular Syndrome
Posterior rib gap, Hydranencephaly, Myelomeningocele, Bell-shaped thorax, Death in infancy, Spina... ORPHA:1393
Lethal Congenital Contracture Syndrome 5
Thin ribs, Decreased nerve conduction velocity, Death in infancy OMIM:615368
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Respiratory distress, Abnormality of the ureter, Abnormal heart mor... ORPHA:798
Farber Disease
Skeletal muscle atrophy, Abnormal sternum morphology, Respiratory distress, Abnormality of the wr... ORPHA:333
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Abnormal renal collecting system morphology, Skel... ORPHA:17
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Scoliosis, Abnormal rib morphology ORPHA:1300
Agnathia-Otocephaly Complex
Respiratory distress, Situs inversus totalis, Secundum atrial septal defect OMIM:202650
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Situs inversus totalis ORPHA:990
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea ORPHA:1302
Pyknoachondrogenesis
Unossified sacrum, Horizontal ribs, Short ribs, Poorly ossified vertebrae, Short thorax, Enlarged... ORPHA:3003
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Aortic Arch Interruption
Respiratory distress, Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, B... ORPHA:2299
Frontometaphyseal Dysplasia
Joint contracture of the hand, Hypoplasia of the musculature, Limited elbow movement, Sprengel an... ORPHA:1826
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Kyphoscoliosis ORPHA:98805
Cleidocranial Dysplasia 1
Aplastic clavicle, Hypoplastic scapulae, Narrow chest, Kyphosis, Persistent open anterior fontane... OMIM:119600
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Death in infancy OMIM:618240
Monosomy 9Q22.3
Abnormality of the vertebral column, Umbilical hernia, Metopic synostosis, Short neck, Abnormal r... ORPHA:77301
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Congenital hip dislocation, Narrow chest, Bilateral renal hypoplasia, ... ORPHA:508488
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Renal dysplasia, Elbow flexion contracture, Apnea, Renal insufficiency, I... OMIM:608836
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Diastasis recti, Hydronephrosis, Wrist flexion contracture, Flexion contract... ORPHA:254528
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Glandular hypospadias, Penile hypospadias, Penoscrotal hypospadias, Micropenis ORPHA:456328
Infant Acute Respiratory Distress Syndrome
Tachypnea, Nasal flaring, Abnormal thorax morphology ORPHA:70587
Slc35A1-Cdg
Respiratory distress ORPHA:238459
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Micropenis, Ureteral duplication, Hypospadias, Pat... OMIM:617516
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Lower limb muscle weakness, Respiratory distress, Hypertrophic cardiomyopathy... ORPHA:365
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Elbow dislocation, Camptodactyly of finger, Respiratory distress, Patellar apl... ORPHA:2554
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ribs, Cupped ... OMIM:607778
Restrictive Dermopathy 2
Respiratory distress, Short clavicles OMIM:619793
Severe Generalized Junctional Epidermolysis Bullosa
Duplicated collecting system, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, ... ORPHA:79404
Nestor-Guillermo Progeria Syndrome
Thin ribs, Limited elbow movement, Wide cranial sutures, Left atrial enlargement, Rib osteolysis,... OMIM:614008
Tetanus
Respiratory distress, Tachypnea, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:3299
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Respiratory distress, Renal insufficiency, Myositis, Tachypne... ORPHA:36234
Pseudo-Torch Syndrome 2
Thin ribs, Secundum atrial septal defect, Abnormal renal corticomedullary differentiation, Patent... OMIM:617397
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Narrow chest, Broad ribs, Ventricular septal defe... OMIM:617022
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial ... ORPHA:373
Lymphatic Malformation 7
Pericardial effusion, Atrial septal defect, Varicose veins OMIM:617300
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Ventricular hypertrophy, Pectus carinatum, Abnormal sternum morphology, Cysto... OMIM:613795
Clapo Syndrome
Venous malformation, Varicose veins ORPHA:168984
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, Skeletal muscle atrophy OMIM:619272
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... OMIM:610655
Brain-Lung-Thyroid Syndrome
Megacystis, Respiratory distress, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal... ORPHA:209905
Osteogenesis Imperfecta
Thin ribs, Pectus carinatum, Narrow chest, Cervical kyphosis, Abnormal form of the vertebral bodi... ORPHA:666
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Respiratory distress, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventric... ORPHA:308552
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Tachypnea, Dyspnea ORPHA:36238
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Tachypnea, Atrial septal defect, Ventricular septal defect OMIM:610978
Melnick-Needles Syndrome
Hypoplastic scapulae, Narrow chest, Ureteral stenosis, Delayed cranial suture closure, Genu valgu... OMIM:309350
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Scoliosis, Contractures of the large joints ORPHA:329178
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Varicose veins OMIM:314300
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
X-Linked Hypophosphatemia
Rachitic rosary, Sacroiliac joint synovitis, Genu valgum, Multiple rib fractures, Arthritis, Genu... ORPHA:89936
Tularemia
Respiratory distress ORPHA:3392
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Cardiomyopathy, Myocarditis ORPHA:292
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Platyspondyly, Abnormal rib cage morphology, Hip subluxation, Carpal synostosis, 11 pairs of ribs... OMIM:271640
Tetrasomy 5P
Respiratory distress, Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:3309
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Cupped ribs, Scoliosis, Ovoid vertebral bodies ORPHA:85167
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Lacticaciduria OMIM:615595
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior vena cava morphology,... ORPHA:980
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Glandular hypospadias, Limb hypertonia, Cardiomegaly OMIM:620306
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Acetabular spurs, Horizontal ribs, Short ribs, Scoliosis, Lateral clavicle hook OMIM:613091
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Pectus carinatum, Narrow chest, Thoracic dysplasia, Horizontal ribs, Ventricular s... OMIM:263520
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Abnormal myocardium mo... ORPHA:3342
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Carpal synostosis, Patellar aplasia, Ventricular septal defect, C... OMIM:274000
Arboleda-Tham Syndrome
Narrow chest, Secundum atrial septal defect, Enlarged proximal interphalangeal joints, Respirator... OMIM:616268
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan OMIM:620166
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Thin clavicles, Delayed cranial suture closure ORPHA:93324
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Multicystic kidney dysplasia, Joint contracture of the hand, Straight cla... OMIM:300373
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles OMIM:244460
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Metacarpal synostosis, Hypoplastic scapulae, Narrow chest, Stillbi... ORPHA:95699
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Myelomeningocele, Supernumerary ribs, Sprengel anomaly, Spina bifida OMIM:193500
Kagami-Ogata Syndrome
Thoracic hypoplasia, Bell-shaped thorax, Large placenta, Kyphoscoliosis, Short neck, Coat hanger ... ORPHA:254519
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Hypoplastic scapulae, Narrow chest, Thoracic dysplasia, Horizontal ribs, Patent... OMIM:269860
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Short neck, Abnormal rib morphology ORPHA:488434
Familial Visceral Myopathy
Narrow chest, Hydroureter, Megacystis, Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hy... ORPHA:2604
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Respiratory distress, Death in infancy, Myopathy, Death in adolescence, ... OMIM:615512
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Stuve-Wiedemann Syndrome 1
Thin ribs, Talipes valgus, Elbow flexion contracture, Knee flexion contracture, Ovoid vertebral b... OMIM:601559
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Pectus excavatum, Thin ribs ORPHA:2463
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria OMIM:251110
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Optic nerve hypoplasia OMIM:614833
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Narrow chest, Unicoronal synostosis, Bell-shaped thorax, Horizontal ribs, Short... OMIM:616300
Mercury Poisoning
Respiratory distress, Acute kidney injury, Dyspnea ORPHA:330021
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vertebral bodies, Sho... OMIM:252940
Congenital Tracheal Stenosis
Hypoplastic left heart, Respiratory distress, Abnormality of the ureter, Ventricular septal defec... ORPHA:141127
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Chondrocalcinosis, Skeletal muscle atrophy, Gl... ORPHA:79474
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Patent ductus... ORPHA:30
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Hydroureter, Urethral diverticulum, Tricuspid stenosis, Muscular ven... OMIM:212093
Diphallia
Penoscrotal transposition, Renal malrotation, Horseshoe kidney, Abnormal heart morphology, Distal... ORPHA:227
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Optic atrophy, Broad ribs, Optic nerve compression, Increased intervertebral space... OMIM:619727
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, At... ORPHA:99125
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Cervical ribs, Tetralo... OMIM:600001
Hallermann-Streiff Syndrome
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Optic ... OMIM:234100
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ... ORPHA:93930
Oculocerebrocutaneous Syndrome
Missing ribs, Congenital hip dislocation, Congenital diaphragmatic hernia, Abnormal rib morphology ORPHA:1647
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Van Den Ende-Gupta Syndrome
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Camptodactyly of 2nd-5th fingers,... OMIM:600920
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Respiratory distress, Contracture of the distal interphalang... ORPHA:83617
Q Fever
Respiratory distress, Abnormal heart valve morphology, Hematuria, Myocarditis, Pericardial effusi... ORPHA:781
Vici Syndrome
Death in infancy, Renal tubular acidosis, Cardiomyopathy, Ureteral atresia ORPHA:1493
Meconium Aspiration Syndrome
Respiratory distress ORPHA:70588
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Long thorax, Horizontal ribs, Short ribs, Neonatal death, Short neck, Wide anterior... OMIM:617925
Livedoid Vasculopathy
Abnormal capillary morphology, Ischemic stroke, Venous insufficiency, Varicose veins ORPHA:542643
Noonan Syndrome 9
Hydroureter, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Cloacal Exstrophy
Hip dislocation, Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic... ORPHA:93929
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Ureteral stenosis, Broad ribs, Hypoplasia of first ribs, Metopic suture patent to na... OMIM:269150
Osteoglophonic Dysplasia
Platyspondyly, Hypoplastic scapulae, Camptodactyly of finger, Respiratory distress, Chordee, Pect... OMIM:166250
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Atrial septal defect, Ventricular septal defect OMIM:610536
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea ORPHA:2707
Thymic Neuroendocrine Tumor
Abnormal vena cava morphology, Prominent veins on trunk ORPHA:97289
Foix-Alajouanine Syndrome
Venous malformation, Arteriovenous fistula ORPHA:79093
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Situ... OMIM:208540
Peutz-Jeghers Syndrome
Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Ragged-red muscle fibers, Multiple gl... ORPHA:255210
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Abnormal heart morphology, Patent foramen ovale, Abnormality of the kidney,... ORPHA:177907
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Respiratory distress, Medul... ORPHA:51608
Pagod Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Abnormal clavicle morphology, Situs inversu... ORPHA:991
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Tetra... OMIM:118450
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, 11 pairs of ribs, Short ribs, Cupped ribs, Short neck, Horizontal in... OMIM:250220
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy OMIM:618426
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Narrow chest, Thoracic dysplasia, Renal insufficiency, Horizon... OMIM:208500
Weill-Marchesani Syndrome 1
Broad ribs, Lumbar hyperlordosis, Scoliosis, Spinal canal stenosis OMIM:277600
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Hyperlordosis ORPHA:3253
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal cerebral vascular morphology, Abnormal venous morphology ORPHA:276280
Pfeiffer Syndrome Type 3
Respiratory distress, Hydronephrosis, Vesicoureteral reflux, Horseshoe kidney ORPHA:93260
Digeorge Syndrome
Unilateral renal agenesis, Renal dysplasia, Tetralogy of Fallot, Renal insufficiency, Interverteb... OMIM:188400
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Respiratory distress, Proteinuria, Microscopic hematuria, Hemolytic-ur... OMIM:274150
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Intercostal retractions, Abno... ORPHA:1329
Esophageal Atresia
Abnormal vertebral morphology, Abnormality of the urinary system, Renal agenesis, Respiratory dis... ORPHA:1199
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Dilated cardi... OMIM:164310
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Delayed cranial suture closure, Elbow flexion contracture, Broad ribs, Humerorad... OMIM:151050
Myhre Syndrome
Abnormal penis morphology, Platyspondyly, Abnormal cardiac septum morphology, Abnormal rib morpho... ORPHA:2588
Renal Nutcracker Syndrome
Vulval varicose vein, Renal artery stenosis, Dilatation of mesenteric artery, Varicose veins ORPHA:71273
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Cervical ribs, Wormian bones, Flexion contracture of f... OMIM:601812
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Pectus carinatum, Talipes valgus, Umbilical hernia, Genu valgum, Short neck, Optic... ORPHA:309282
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Chondrocalcinosis, Respiratory distress, Pericardia... ORPHA:358
Toxic Epidermal Necrolysis
Abnormality of the urethra, Respiratory distress, Renal insufficiency, Abnormal myocardium morpho... ORPHA:537
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Coccidioidomycosis
Respiratory distress, Broad ribs, Renal insufficiency, Arthritis, Abnormality of the kidney, Abno... ORPHA:228123
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Listeriosis
Acute kidney injury, Respiratory distress, Pyelonephritis, Rhabdomyolysis, Miscarriage, Myocardit... ORPHA:533
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal lumbar spine morphology, Abnormality of the cervical spine... ORPHA:249
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Valvular pulmonary stenosis, Crossed fused renal ectopia,... OMIM:300707
Japanese Encephalitis
Genu recurvatum, Skeletal muscle atrophy, Abnormal pattern of respiration, Respiratory distress, ... ORPHA:79139
Mucopolysaccharidosis Type 3
Optic atrophy, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Umbilical her... ORPHA:581
Choanal Atresia
Respiratory distress, Craniosynostosis ORPHA:137914
Infantile Krabbe Disease
Respiratory distress, Shoulder girdle muscle weakness, Ankle clonus ORPHA:206436
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Myhre Syndrome
Platyspondyly, Broad ribs, Enlarged vertebral pedicles, Short neck, Vertebral fusion OMIM:139210
Wolfram Syndrome 1
Hydronephrosis, Neurogenic bladder, Hydroureter, Cardiomyopathy OMIM:222300
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Right atrial enlargement, Abnormal vena cava morphology, Atrial septal dilatation, ... ORPHA:1677
Congenital Tracheomalacia
Intercostal retractions, Abnormal heart morphology, Tetralogy of Fallot, Apnea, Ventricular septa... ORPHA:95430
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Thoracic hypoplasia, Renal agenesis, Broad ribs, Ventri... OMIM:229850
Biotinidase Deficiency
Organic aciduria, Respiratory distress, Apnea, Limb muscle weakness, Hyperventilation ORPHA:79241
Lujo Hemorrhagic Fever
Oliguria, Respiratory distress, Renal insufficiency, Myocarditis, Microscopic hematuria ORPHA:319213
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Varicose veins OMIM:153400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Large placenta, Short neck, Ante... ORPHA:96334
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Respiratory distress, Abnormal heart m... ORPHA:79282
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Patent foramen ovale, Patent ductus arteriosus after pre... OMIM:618460
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Flexion contracture, 3-Methylglutaconic aciduria OMIM:616271
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Pulmonic stenosis, Varicose veins OMIM:618343
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Delayed cranial suture closure, Respiratory distress, Mitral valve prolap... OMIM:180849
Meckel Syndrome 12
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis, Antecubital pterygium, Arthrogry... OMIM:616258
Colchicine Poisoning
Respiratory distress, Oliguria, Renal insufficiency, Myocarditis ORPHA:31824
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Platyspondyly, Unilateral renal agenesis, Enlargement of the ankles, Secundum atrial septal defec... ORPHA:99646
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Thin ribs, Delayed cranial suture closure, Genu valgum, Death... OMIM:619127
Rodrigues Blindness
Nasal flaring OMIM:268320
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Autosomal Dominant Spastic Paraplegia Type 10
Varicose veins ORPHA:100991
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Total anomalous pulmonary venous return, Ureteral stenosis, Atrioventricular ca... OMIM:270100
Ulbright-Hodes Syndrome
Abnormal penis morphology, Thin ribs, Renal hypoplasia, Respiratory distress, Humeroradial synost... ORPHA:3404
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Hydroureter OMIM:616367
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Kyphosis, Abnormal form of the ver... ORPHA:818
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Craniosynostosis, Limited elbow extension, Hypospadias OMIM:123790
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydronephrosis, Bladder ... OMIM:614080
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Respiratory distress, Elevated urine 3-hydroxypropionic acid l... OMIM:251100
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Platyspondyly, Congenital hip dislocation, Thin ribs, Joint dis... OMIM:225400
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Renal insufficiency, Renal tubular dysfunction, Episodic respira... ORPHA:31826
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Prominent crus of helix, Elbow ... OMIM:619194
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Craniosynostosis ORPHA:1555
Histiocytosis-Lymphadenopathy Plus Syndrome
Mitral valve prolapse, Ventricular septal defect, Cardiomegaly, Left superior vena cava draining ... OMIM:602782
Restrictive Dermopathy 1
Stillbirth, Increased anterioposterior diameter of thorax, Kyphoscoliosis, Short clavicles, Neona... OMIM:275210
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Neoplasm of the heart, Death in infancy ORPHA:2241
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation OMIM:612918
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Dyspnea OMIM:610913
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the crus of the helix ORPHA:137888
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Ventricular septal defect, Limited elbow movement, Bicuspid aortic valve, Delayed cl... OMIM:610759
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defect, Hydronephros... ORPHA:3380
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Shallow acetabular fossae, Popliteal pterygium, Patellar... OMIM:609945
Restrictive Dermopathy
Thin ribs, Arthrogryposis multiplex congenita, Camptodactyly of finger, Increased anterioposterio... ORPHA:1662
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Pectus carinatum, Broad clavicles, Elbow flexion contracture, Broad ribs, Carpal bone aplasia, Hu... OMIM:276820
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Respiratory distress, Decreased gl... ORPHA:340
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Posterior rib cupping, Lumba... OMIM:300106
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Gracile Bone Dysplasia
Micropenis, Thin ribs, Death in infancy OMIM:602361
Proteus-Like Syndrome
Venous insufficiency ORPHA:2969
Ramos-Arroyo Syndrome
Respiratory distress, Patent ductus arteriosus, Atrial septal defect ORPHA:1051
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Optic atrophy, Otosclerosis, Camptodactyly of finger, Umbilical he... ORPHA:217085
Cocaine Intoxication
Acute kidney injury, Respiratory distress, Rhabdomyolysis, Hematuria, Proteinuria, Tachypnea, Glo... ORPHA:90068
Tuberous Sclerosis Complex
Chronic kidney disease, Respiratory distress, Stage 5 chronic kidney disease, Renal insufficiency... ORPHA:805
Alg9-Cdg
Hypoplasia of the musculature, Right ventricular dilatation, Hypoplasia of the bladder, Delayed c... ORPHA:79328
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopa... ORPHA:2556
Raine Syndrome
Hydroureter, Thoracic hypoplasia, Death in infancy, Neonatal death, Hydronephrosis, Pectus excava... OMIM:259775
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Varicose veins ORPHA:33001
Cranioectodermal Dysplasia 2
Narrow chest, Renal insufficiency, Horizontal ribs, Patent foramen ovale, Short ribs, Renal cyst,... OMIM:613610
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Optic atrophy, Otosclerosis, Camptodactyly of finger, Umbilical he... ORPHA:217093
Congenital Disorder Of Deglycosylation 1
Chondroitin sulfate excretion in urine, Respiratory distress, Heparan sulfate excretion in urine,... OMIM:615273
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Oeis Complex
Congenital hip dislocation, Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Ren... OMIM:258040
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep... ORPHA:3339
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale,... ORPHA:163956
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Skeletal muscle atrophy, Dilated cardiomyopathy, Respiratory distress, Joint swel... ORPHA:3260
Castleman Disease
Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Hematuria, Dyspnea ORPHA:160
Neuroblastoma
Respiratory distress, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid,... ORPHA:635
Fetal Akinesia Deformation Sequence 1
Thin ribs, Thoracic hypoplasia, Camptodactyly of finger, Small placenta, Short umbilical cord, Hi... OMIM:208150
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia, Broad ribs, Genu valgum, Limited elbow extension, Hyperlordosis, Hip dislocation OMIM:301066
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Renal duplication, ... ORPHA:79403
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Xylt1-Cdg
Short clavicles, Broad ribs, Joint dislocation ORPHA:370930
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Optic nerve compression, Death in childhood, Death in infancy, Multiple rib fractures OMIM:612301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia ORPHA:438216
Townes-Brocks Syndrome
Abnormal vertebral morphology, Renal hypoplasia, Abnormal rib morphology, Tetralogy of Fallot, Re... ORPHA:857
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Narrow chest, Respiratory distress, Decreased glomerular filt... OMIM:614748
Weill-Marchesani Syndrome 2
Spinal canal stenosis, Elbow flexion contracture, Broad ribs, Lumbar hyperlordosis, Umbilical her... OMIM:608328
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Hematuria, Proximal renal tubular acidosis, Patellar dislocation, Hip dislocation, A... ORPHA:534
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Narrow chest, Abnormal renal collecting system morpholog... ORPHA:280633
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, A... ORPHA:158684
Monosomy 9P
Short neck, Scoliosis, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:261112
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Facial hypotonia, Cardiomyopathy ORPHA:2131
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Acute kidney injury, Nephronophthisis, Narrow chest, Thoracic hypoplasia, Stage 5 c... OMIM:266920
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Mitral valve prolapse, Carotid artery stenosis, V... ORPHA:536532
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Membranous nephropathy, Tubulointerstitial nephritis, Nephrotic s... ORPHA:37042
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Abnormality of the ureter, Ab... OMIM:249000
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Apnea, Abnormal pulmonary valve morphology, Abnormal rib morphology, Craniosynostosis ORPHA:667
Menkes Disease
Arterial stenosis, Venous insufficiency, Vascular dilatation, Intracranial hemorrhage, Abnormal c... ORPHA:565
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea ORPHA:100050
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Prominent superficial veins, Varicose veins, Cor triatriatum, Pate... OMIM:612541
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Delayed cranial suture closure, Hydronephrosis, Abnormality of the upper urinary tra... ORPHA:2995
Meige Disease
Varicose veins ORPHA:90186
Eisenmenger Syndrome
Bacterial endocarditis, Respiratory distress, Abnormal heart morphology, Tetralogy of Fallot, Atr... ORPHA:97214
Lymphatic Malformation 6
Intestinal lymphangiectasia, Atrial septal defect, Varicose veins OMIM:616843
Sepsis In Premature Infants
Dyspnea, Nasal flaring, Reversible renal failure, Oliguria ORPHA:90051
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys OMIM:617914
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Camptodactyly of finger, Abnormal renal tubule morphology, Abnormal r... ORPHA:2907
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Gout, Death in childhood, Hyperuricosuria, Uric acid nephrolit... OMIM:300661
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Death in i... OMIM:617156
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Respiratory distress, Elbow flexion contracture, Apnea, Genu valgum, Kne... ORPHA:3206
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Hypertrophic ... ORPHA:84
Charge Syndrome
Abnormal rib morphology, Horseshoe kidney, Tetralogy of Fallot, Vesicoureteral reflux, Abnormal a... ORPHA:138
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, V... ORPHA:49
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Skeletal muscle atro... ORPHA:90324
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Cardiomyopathy, Renal dysplasia, Respiratory distress, Hydronephrosis... ORPHA:480880
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... ORPHA:2973
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Eiken Syndrome
Broad ribs, Flat acetabular roof, Delayed ossification of carpal bones OMIM:600002
Intellectual Developmental Disorder, Autosomal Dominant 73
Axillary pterygium, Narrow chest, Hydroureter, Lumbar hyperlordosis, Limited elbow extension, Kne... OMIM:620450
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Charge Syndrome
Renal hypoplasia, Secundum atrial septal defect, Renal agenesis, Abnormal rib morphology, Horsesh... OMIM:214800
Nocardiosis
Respiratory distress, Abnormal heart valve morphology, Dyspnea, Endocarditis, Pericarditis ORPHA:31204
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Vesic... OMIM:301068
Sotos Syndrome
Abnormal vertebral morphology, Hip contracture, Ventricular septal defect, Atrial septal defect, ... ORPHA:821
Peutz-Jeghers Syndrome
Abnormality of the ureter, Bladder polyp OMIM:175200
Adnp Syndrome
Respiratory distress, Urinary incontinence, Recurrent urinary tract infections ORPHA:404448
Beckwith-Wiedemann Syndrome
Nephropathy, Macroglossia, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Congenital diaphra... ORPHA:116
Fraser Syndrome 3
Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, Stillbirth, Hypoplasia of... OMIM:617667
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Neoplasm of the urethra, Phimosis, Urethral stricture, Abnormal rib morp... ORPHA:2908
Isolated Arrhinia
Respiratory distress, Absent nasal septal cartilage ORPHA:1134
Fraser Syndrome
Umbilical hernia, Myelomeningocele, Encephalocele, Death in infancy, Vertebral segmentation defec... ORPHA:2052
Cryptococcosis
Respiratory distress, Dyspnea, Limb muscle weakness ORPHA:1546
Kasabach-Merritt Phenomenon
Respiratory distress, Hypopnea ORPHA:2330
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Skeletal muscle atrophy OMIM:256810
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse, Varicose veins OMIM:617107
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Tetralogy of Fallot, Congenital diaphragmatic hernia, Aplasia/Hypo... OMIM:135900
Telangiectasia, Hereditary Hemorrhagic, Type 1
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... OMIM:187300
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Retinal arteriolar tortuosity, Abnormal pul... ORPHA:567
H Syndrome
Varicose veins ORPHA:168569
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... ORPHA:500095
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Abnormality of the urinary system, Hydroureter, Abnormal form of the vertebral... ORPHA:2636
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Pelvic kidney, Dilatation of renal calices ORPHA:466943
Leptospirosis
Acute kidney injury, Respiratory distress, Rhabdomyolysis, Cellular urinary casts, Pericarditis ORPHA:509
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Renal duplication OMIM:270420
Occipital Horn Syndrome
Vascular dilatation, Venous insufficiency ORPHA:198
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Duplicated collecting system, Hydroureter, Ureterocele, Megacystis, Renal agenesis, Vesicouretera... OMIM:604292
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress OMIM:305100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Peters-Plus Syndrome
Renal hypoplasia, Diastasis recti, Limited elbow movement, Hydronephrosis, Ventricular septal def... OMIM:261540
Osteopetrosis With Renal Tubular Acidosis
Prominent floating ribs, Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithiasis, ... ORPHA:2785
Focal Dermal Hypoplasia
Midclavicular hypoplasia, Congenital hip dislocation, Midclavicular aplasia, Horseshoe kidney, Bi... OMIM:305600
White-Kernohan Syndrome
Horseshoe kidney, Hydronephrosis, Hydroureter, Metopic synostosis OMIM:619426
Microphthalmia With Limb Anomalies
Venous insufficiency ORPHA:1106
Peters Plus Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia... ORPHA:709
Plague
Respiratory distress, Endocarditis, Arthritis, Abnormality of the elbow ORPHA:707
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Calcification of the aorta, Mitral valve calc... ORPHA:2072
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Hydronephrosis, Polycystic kidney... OMIM:236700
Microphthalmia, Syndromic 1
Hypospadias, Renal hypoplasia, Joint contracture of the hand, Hydroureter, Narrow chest, Lumbar h... OMIM:309800
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Respiratory distress, Hemat... ORPHA:95455
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Narrow chest, Long penis, Secundum atrial septal defect, Delayed closure of the anteri... OMIM:264090
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Mitral valve prolapse, Venous insufficiency, Ascending... ORPHA:285
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Early Infantile Epileptic Encephalopathy
Micropenis, Ureterocele, Renal dysplasia, Ventricular septal defect ORPHA:1934
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Ureterocele, Renal agenesis, Vesicoureteral reflux, Hy... OMIM:129900
Skin Creases, Congenital Symmetric Circumferential, 2
Pectus excavatum, Hypospadias, Ureterocele OMIM:616734
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Ehlers-Danlos Syndrome, Vascular Type
Dilatation of the cerebral artery, Mitral valve prolapse, Descending aortic dissection, Ascending... OMIM:130050
Alström Syndrome
Chronic kidney disease, Detrusor sphincter dyssynergia, Dilated cardiomyopathy, Functional abnorm... ORPHA:64
Pmm2-Cdg
Platyspondyly, Respiratory distress, Hypertrophic cardiomyopathy, Multiple joint contractures, Ky... ORPHA:79318
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Situs inversus totalis, Urethral atresia ORPHA:564
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Ventricular septal def... ORPHA:141099
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Platyspondyly, Abnormal vertebral morphology, Hydroureter, Camptodactyly of finger, Hydronephrosi... ORPHA:2273
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Proteus Syndrome
Venous malformation, Arteriovenous malformation ORPHA:744
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Duplication of renal pelvis ORPHA:457212
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Renal artery stenosis, Myocardial steatosis, Re... ORPHA:391665
Norrie Disease
Venous insufficiency ORPHA:649
Chand Syndrome
Hydroureter ORPHA:1401

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 Tbx18

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 Tbx18.

No publications found that use IMPC mice or data for Tbx18.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tbx18tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tbx18tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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