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Gene: Tbx18 MGI:1923615

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.

Human diseases associated with Tbx18 (1 diseases)
Human diseases predicted to be associated with Tbx18 (802 diseases)

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 dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400

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

Disease	Matching phenotypes	Source
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol...	OMIM:277300
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Autosomal Dominant Spondylocostal Dysostosis	Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Aneurysm Of Interventricular Septum	Abnormal ventricular septum morphology, Vascular dilatation	OMIM:105805
Poland Syndrome	Unilateral absence of pectoralis major muscle, Unilateral hypoplasia of pectoralis major muscle, ...	OMIM:173800
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoli...	ORPHA:3268
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Becker Nevus Syndrome	Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi...	ORPHA:64755
Heart Defects-Limb Shortening Syndrome	Death in infancy, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narro...	ORPHA:1354
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b...	ORPHA:2790
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc...	OMIM:613686
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Von Willebrand Disease	Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:93302
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,...	ORPHA:2311
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ...	ORPHA:2345
Femoral-Facial Syndrome	Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, R...	ORPHA:1988
Kyphomelic Dysplasia	Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ...	ORPHA:1801
Galactosialidosis	Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:351
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis	ORPHA:93304
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Patent duct...	OMIM:618845
Varicose Veins	Varicose veins	OMIM:192200
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Sprengel ...	ORPHA:40
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Humero-Radio-Ulnar Synostosis	Radioulnar synostosis, Abnormality of the ureter, Elbow ankylosis, Abnormality of the upper urina...	ORPHA:3266
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death,...	OMIM:619751
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle	ORPHA:163665
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil...	OMIM:614399
Diaphanospondylodysostosis	Respiratory distress, Missing ribs, Short thorax, Enlarged thorax, Multiple renal cysts, Absent o...	ORPHA:66637
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Pontine Tegmental Cap Dysplasia	Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis	OMIM:614688
Succinic Acidemia	Respiratory distress	OMIM:600335
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo...	ORPHA:2635
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl...	OMIM:604864
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Flared, irregular rib ends	ORPHA:168555
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Optic atrophy, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia	OMIM:602271
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Cough, Li...	ORPHA:86812
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect	OMIM:126320
Acropectorovertebral Dysplasia	Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu...	OMIM:102510
Spondylometaphyseal Dysplasia, Type A4	Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c...	OMIM:609052
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle...	ORPHA:1143
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bones	OMIM:259440
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Thoracolaryngopelvic Dysplasia	Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,...	OMIM:187760
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec...	ORPHA:1836
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:1053
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
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Craniosynostosis, Ri...	ORPHA:261197
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture...	ORPHA:1145
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular...	OMIM:617405
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular vertebral endplates...	OMIM:618395
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Short neck, Kyphosis, Prenatal death, Neonatal death	OMIM:618393
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Perching Syndrome	Respiratory distress, Joint contracture, Scoliosis, Camptodactyly	OMIM:617055
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car...	OMIM:300580
Multiple Pterygium Syndrome, Escobar Variant	Short neck, Knee flexion contracture, Intercrural pterygium, Pterygium, Dislocated radial head, T...	OMIM:265000
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias, Respiratory insufficiency	ORPHA:2487
Bardet-Biedl Syndrome 16	Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ...	OMIM:615993
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Neonatal respiratory distress, Camptodactyly of fin...	ORPHA:2990
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Metatropic Dysplasia	Relatively short spine, Enlarged joints, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, ...	OMIM:156530
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vertebral segmenta...	OMIM:611209
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ...	ORPHA:168549
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Kyphoscoliosis	OMIM:619099
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Pectus excavatum, Kyphosis, Abnormality...	ORPHA:2522
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit...	OMIM:271650
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele	ORPHA:280195
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Optic nerve hypoplasia, Missing ribs, Rib fusion, Hemivert...	OMIM:206900
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Vertebral wedging, Genu valgum, Bell-shaped thorax, Pectus carinatum	OMIM:255710
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip...	ORPHA:93311
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla...	ORPHA:2842
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Tubulointerstitial fi...	OMIM:263000
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal carpal morphology, P...	ORPHA:93351
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest	ORPHA:93267
Craniodiaphyseal Dysplasia	Optic atrophy, Abnormal rib morphology	ORPHA:1513
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon...	OMIM:609616
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid...	OMIM:146510
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Abnormal rib morpholog...	ORPHA:2519
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Increased level of methyls...	ORPHA:26792
Aicardi Syndrome	Block vertebrae, Spina bifida, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, Hemi...	OMIM:304050
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Delayed cranial suture closure	ORPHA:1832
Aicardi Syndrome	Block vertebrae, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, Supernumerary ribs...	ORPHA:50
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,...	OMIM:187601
Fibrochondrogenesis 2	Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia	OMIM:614524
Lethal Congenital Contracture Syndrome Type 1	Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck	ORPHA:1486
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ...	OMIM:269250
Odontochondrodysplasia 1	Respiratory distress, Death in infancy, Biconvex vertebral bodies, Genu recurvatum, Flat acetabul...	OMIM:184260
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Hypospadias, Respiratory distress, Scoliosis	OMIM:300934
Jeune Syndrome	Abnormal clavicle morphology, Renal insufficiency, Short thorax, Abnormal rib morphology, Respira...	ORPHA:474
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Hypospadias, Centrally nucleated skeletal muscle fibers, ...	OMIM:300219
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Mosaic Trisomy 14	Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck	ORPHA:1703
Juberg-Hayward Syndrome	Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ...	ORPHA:2319
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency...	ORPHA:254875
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge...	ORPHA:2180
Holt-Oram Syndrome	Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Pectus excavatum...	ORPHA:392
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Lethal Congenital Contracture Syndrome 1	Neonatal death, Abnormal thorax morphology, Widening of cervical spinal canal	OMIM:253310
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Nephrocalcinosis, Thoracic ...	OMIM:615633
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia, Narrow chest, Flared elbow metaphyses	ORPHA:1423
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro...	ORPHA:2596
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
White Forelock With Malformations	Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology	ORPHA:2475
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Craniosynostosis, Short neck, Pectu...	OMIM:213980
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu...	OMIM:620011
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb...	ORPHA:2064
Gjc2-Related Late-Onset Primary Lymphedema	Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ...	ORPHA:568051
Odontochondrodysplasia	Respiratory distress, Death in infancy, Patent ductus arteriosus, Platyspondyly, Narrow chest, Sc...	ORPHA:166272
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Camptodactyly of finger, Elbow dislocation, Kyph...	ORPHA:628
Kbg Syndrome	Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis	OMIM:148050
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion co...	OMIM:184252
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Mucopolysaccharidosis, Type Iva	Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of th...	OMIM:253000
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebrae, Abnormal for...	ORPHA:2759
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Hypospadias	ORPHA:276422
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Thickened ribs, Optic atrophy, Death in adolescence, Facial diplegia	OMIM:122860
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon...	OMIM:619698
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace...	OMIM:608728
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosu...	ORPHA:1120
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Missing ribs,...	ORPHA:1834
Autosomal Recessive Robinow Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, A...	ORPHA:1507
Alkaptonuria	Arthropathy, Vertebral fusion, Mitral valve calcification, Aortic valve calcification, Kyphosis, ...	OMIM:203500
Trisomy 13	Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Abnormal rib morphology, Abnormali...	ORPHA:3378
Caudal Regression Syndrome	Ureteral duplication, Decreased muscle mass, Renal insufficiency, Renal agenesis, Ectopic kidney,...	ORPHA:3027
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Posterior rib fusion, Atrial septal defect, Neonat...	OMIM:265380
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v...	OMIM:184250
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Resp...	OMIM:617895
Achondrogenesis Type 1B	Short neck, Short thorax, Abnormal rib morphology, Narrow chest, Umbilical hernia	ORPHA:93298
Melnick-Needles Syndrome	Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Respirato...	ORPHA:2484
Robinow Syndrome, Autosomal Recessive 1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Miss...	OMIM:268310
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber...	ORPHA:254864
Cog1-Cdg	Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Flat...	ORPHA:263508
Sillence Syndrome	Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Interve...	ORPHA:3168
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ...	OMIM:151210
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Abnormal renal corticomedullary differentiation, Left ...	OMIM:616733
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Death in infancy, Respiratory distress	OMIM:616974
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Thoracic Outlet Syndrome	Varicose veins	ORPHA:97330
Femoral-Facial Syndrome	Ventricular septal defect, Renal agenesis, Abnormal renal collecting system morphology, Missing r...	OMIM:134780
Phaver Syndrome	Camptodactyly of finger, Myelomeningocele, Abnormal rib morphology, Abnormal form of the vertebra...	ORPHA:2876
Mucopolysaccharidosis Type 4	Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Sp...	ORPHA:582
Prune Belly Syndrome	Hydroureter, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Aplasia of t...	OMIM:100100
Lethal Kniest-Like Dysplasia	Anterior rib cupping, Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal...	ORPHA:2347
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys...	ORPHA:3015
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc...	OMIM:615042
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Respirator...	ORPHA:1046
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Osteogenesis Imperfecta, Type X	Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Chronic lung disease, Recurrent...	OMIM:613848
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly	OMIM:608940
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Optic atroph...	ORPHA:280
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Proteinuria, Acetabular dysplasia, Pectus excavatum, Patent ductus arterios...	OMIM:617303
Osteogenesis Imperfecta, Type Ii	Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Wormian bones, Thoracic hypoplasia	OMIM:166210
Fibrochondrogenesis 1	Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su...	OMIM:228520
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,...	OMIM:613561
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Kyphosis, Wide anterior fontanel, Thin ribs, Scoliosis, Wormian bones, Bicon...	OMIM:259420
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosis, Cough, ...	ORPHA:2414
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O...	OMIM:260400
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od...	ORPHA:239
Congenital Pseudoarthrosis Of The Clavicle	Dextrocardia, Situs inversus totalis, Osteoarthritis, Cervical ribs, Congenital pseudoarthrosis o...	ORPHA:66630
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Ventricular septal defect, Kyphoscoliosis...	ORPHA:97360
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Cooper-Jabs Syndrome	Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Scoliosis, Umbilical hernia	ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Osteoarthritis, Platyspondyly, Flared, irregular rib ends, Pear-sh...	OMIM:602111
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Biconcave vertebral bodies, Wormian bones, Umbilical hernia, Vertebral compression fra...	OMIM:617952
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis	OMIM:252900
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
Congenital Diaphragmatic Hernia	Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox...	ORPHA:2140
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ...	OMIM:620278
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Hypoven...	ORPHA:98915
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect, Abnormality of the ureter, Genu valgum	ORPHA:1035
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Pectus excavatum, Flexio...	OMIM:271225
Grant Syndrome	Joint dislocation, Abnormal rib morphology, Narrow chest, Wormian bones, Sprengel anomaly, Abnorm...	ORPHA:2097
Cole-Carpenter Syndrome	Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Wormian bones	ORPHA:2050
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Death in adolescence, Cardiomyocyte hypertrophy, Left ...	OMIM:612158
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Malaria	Respiratory distress, Acute kidney injury	ORPHA:673
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Platyspondyly, Thin ribs	OMIM:300863
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs	OMIM:200610
Ellis Van Creveld Syndrome	Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia...	ORPHA:289
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Rib fusion	ORPHA:544488
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Anterior rib cupping, Osteosclerosis of ribs, Irregular vertebral endplates...	ORPHA:174
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,...	ORPHA:210122
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Dextrocardia	Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal renal morphology, Abno...	ORPHA:1666
3M Syndrome	Scapular winging, Congenital hip dislocation, Short neck, Hyperlordosis, Increased vertebral heig...	ORPHA:2616
Achondrogenesis, Type Ia	Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho...	OMIM:200600
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Platyspondyly,...	OMIM:187600
Achondrogenesis Type 1A	Multiple rib fractures, Short neck, Short thorax, Narrow chest, Umbilical hernia	ORPHA:93299
Cat-Eye Syndrome	Abnormal rib morphology, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Optic disc pallor, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid p...	OMIM:300232
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Osteogenesis Imperfecta, Type Xvi	Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Wormian bones, Vertebral compre...	OMIM:616229
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Abnormal rib morphology	ORPHA:2772
Cole-Carpenter Syndrome 2	Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosyno...	OMIM:616294
Kniest Dysplasia	Respiratory distress, Hip contracture, Enlarged joints, Tracheomalacia, Pectus excavatum, Hip dis...	OMIM:156550
Baller-Gerold Syndrome	Bicoronal synostosis, Optic nerve hypoplasia, Limited elbow movement, Sagittal craniosynostosis, ...	OMIM:218600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hyperlordosis, Abnormal rib morphology, Facial palsy, Pectus carinatum	ORPHA:3068
Dysosteosclerosis	Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, O...	OMIM:224300
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring...	OMIM:211530
Proteus Syndrome	Venous malformation	OMIM:176920
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ...	ORPHA:596
Carnitine Deficiency, Systemic Primary	Respiratory distress, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced musc...	OMIM:212140
Zttk Syndrome	Ventricular septal defect, Polyuria, Unilateral renal agenesis, Craniosynostosis, Kyphosis, Paten...	OMIM:617140
Alagille Syndrome	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormality of the ...	ORPHA:52
Pseudoachondroplasia	Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Spatulate ribs, Hypoplasia o...	OMIM:177170
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea...	OMIM:220110
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum	ORPHA:3082
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Brachytelephalangic Chondrodysplasia Punctata	Optic nerve hypoplasia, Cervical kyphosis, Abnormality of the costochondral junction, Atlantoaxia...	ORPHA:79345
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Atrial septal def...	ORPHA:505248
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation	ORPHA:75508
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie...	OMIM:614299
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Wrist flexion contract...	OMIM:305620
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Ventricular septal defect, Hypospadias, Beaded ribs, Cardiomegaly, Flexio...	OMIM:616897
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Platyspondyly, Thin ribs	ORPHA:163966
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs	OMIM:312150
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus...	ORPHA:90308
1P36 Deletion Syndrome	11 pairs of ribs, Hypoplasia of penis, Abnormal heart valve morphology, Camptodactyly of finger, ...	ORPHA:1606
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Gm1-Gangliosidosis, Type I	Death in infancy, Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, ...	OMIM:230500
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c...	OMIM:606763
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Myofiber disarray, Myopathy, Increased variability in mus...	OMIM:604377
Dyggve-Melchior-Clausen Disease	Barrel-shaped chest, Hypoplastic scapulae, Lumbar hyperlordosis, Flaring of lower rib cage, Short...	OMIM:223800
Hypophosphatasia	Craniosynostosis, Abnormal rib morphology, Respiratory insufficiency, Narrow chest, Emphysema	ORPHA:436
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,...	OMIM:157800
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:3035
Craniofaciofrontodigital Syndrome	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp...	ORPHA:363705
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Miscarriage, Urinary incontinence, Centrally nucleated s...	ORPHA:169189
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Ovoid thoracolumbar vertebrae	OMIM:252920
Milroy Disease	Varicose veins, Abnormal venous morphology	ORPHA:79452
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ...	OMIM:183900
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Premature osteoarthritis, Platyspondyly, Squared-off platyspondyly, Sc...	ORPHA:93352
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Respiratory insuffi...	OMIM:601612
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr...	OMIM:613309
Mucopolysaccharidosis, Type Iiic	Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis	OMIM:252930
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Organic aciduria	OMIM:614741
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Wide cranial sutures, Unilateral renal agenesis, Patent ductus arteriosus, ...	OMIM:618188
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextrocardia, Abnormal hemidiaphragm mor...	ORPHA:2257
Campomelia, Cumming Type	Abnormally ossified vertebrae, Death in infancy, Abnormal thorax morphology, Abnormal rib morphology	ORPHA:1318
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Flexion contracture, Pectus carinatum, Scoliosis, Atrial septal defect, Hyp...	OMIM:619383
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien...	OMIM:245650
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Platys...	OMIM:616482
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs	ORPHA:583
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,...	OMIM:610978
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs	OMIM:253290
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph...	OMIM:180860
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Aminoaciduria, Proximal tubulopathy	OMIM:612075
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Mucolipidosis Iii Alpha/Beta	Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f...	OMIM:252600
Mucopolysaccharidosis, Type Ivb	Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid p...	OMIM:253010
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contractu...	OMIM:620369
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Craniosynostosis, Abnormal rib morphology, Abnormality of the upper u...	ORPHA:2145
Vacterl Association With Hydrocephalus	Stillbirth, Abnormality of the vertebral column, Abnormal vertebral morphology	OMIM:276950
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu...	OMIM:612921
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flexion contracture, Flat glenoid f...	OMIM:224690
Cenani-Lenz Syndrome	Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie...	ORPHA:3258
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl...	ORPHA:958
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Cardiomyopathy, Renal insufficiency	ORPHA:79312
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Hypospadias, Patent ductus arteriosus, Recurrent pneumonia, Short ribs, Mic...	OMIM:607143
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Optic atrophy, Abnormal rib m...	ORPHA:3301
Liposarcoma	Varicose veins	ORPHA:69078
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Wormian bones, Broad ribs, Wide anterior fontanel, Vertebral arch anomaly	ORPHA:85184
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Pectus carinatum, Wrist flexion contracture, Death in infancy, Ab...	ORPHA:800
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Tachypnea, Methylmalonic aciduria, Bell-shaped thorax, Atrial septal de...	OMIM:614857
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Dyspnea, Muscu...	OMIM:115197
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Pectus excavatum, Patent ductus arteriosus, Hypercalciuria, Renal...	OMIM:615398
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ankle flexion contracture, Patent ductus arteriosus, Knee flexion contractu...	OMIM:608799
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage	ORPHA:624
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Camptodactyly of finger, Kyphosis, Abnormality of the ureter, Flexion contra...	ORPHA:3409
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Abn...	ORPHA:2461
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short thorax, Narrow chest, Flat acetabular roof	OMIM:617102
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Hypospadias, Facial palsy, Abnormal thorax morphology, Flexion contractu...	ORPHA:171430
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Recurrent pneumonia, Abnor...	ORPHA:314655
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:2167
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Hemivertebrae, Pectus ca...	ORPHA:2911
Noonan Syndrome 4	Pectus excavatum of inferior sternum, Ureteral duplication, Ventricular septal defect, Pectus exc...	OMIM:610733
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Enlarged Parietal Foramina	Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Patent ductus arteriosus, Horseshoe kidney, Aplasia of the epiglottis, Shor...	OMIM:617088
Isolated Atp Synthase Deficiency	Respiratory distress, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hype...	ORPHA:254913
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap...	ORPHA:261344
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Hypospadias, Patent ductus arteriosus, Cardi...	OMIM:217980
Craniometadiaphyseal Dysplasia	Cubitus valgus, Wide anterior fontanel, Genu valgum, Scoliosis, Wormian bones, Broad ribs, Genu v...	OMIM:269300
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Abnormality ...	ORPHA:93473
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Anisospondyly, Neonatal death, Pterygium, Thoracic hypoplasia	OMIM:224410
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Vertebral Hypersegmentation And Orofacial Anomalies	Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae	OMIM:619122
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Arteriovenous malformation	ORPHA:137608
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Rib fusion, Hip disloc...	OMIM:194190
Greenberg Dysplasia	Beaded ribs, Hypoplastic vertebral bodies, Narrow chest, Absent or minimally ossified vertebral b...	OMIM:215140
Atelosteogenesis, Type I	11 pairs of ribs, Encephalocele, Long clavicles, Short neck, Thoracic platyspondyly, Elbow disloc...	OMIM:108720
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Renal agenesis, Congenital diaphragmatic hernia, Missing ribs, Kyphoscolios...	OMIM:200980
Aspergillosis	Sinusitis, Abnormality of the kidney, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, ...	ORPHA:1163
Cantú Syndrome	Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Umbilical hern...	ORPHA:1517
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Unilateral renal agenesis, Bilateral renal dysplasia, Kyphoscoliosis, Sagit...	ORPHA:500150
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Kyphosis, Wide anterior fontanel, Thin ribs, Platyspondyly, Scoliosis, Wormi...	OMIM:610915
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs	OMIM:152800
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Thin ribs, Vesicoureteral reflux, Arthrogryposis multiplex congenita, Hydroneph...	OMIM:618265
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Multiple joint dislocation, Pectus carinatum, ...	ORPHA:536467
Renpenning Syndrome	Skeletal muscle atrophy, Hypospadias, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly	ORPHA:3242
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Protrusio acetabuli, Cra...	ORPHA:284984
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f...	ORPHA:2769
Kagami-Ogata Syndrome	Long clavicles, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Patent ductus arterio...	OMIM:608149
Sclerosteosis 1	Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, Broad ribs, Sclero...	OMIM:269500
Episodic Ataxia Type 1	Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis	ORPHA:37612
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, V...	OMIM:607872
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ...	OMIM:306955
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale, Respiratory distress	ORPHA:89844
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Spondylometaphyseal Dysplasia, Algerian Type	Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo...	OMIM:184253
Chitayat Syndrome	Pectus excavatum, Respiratory distress, Tracheomalacia	OMIM:617180
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Congenital Myasthenic Syndrome	Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis, Intermittent episodes of respi...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis, Intermittent episodes of respi...	ORPHA:98914
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Genu va...	OMIM:250420
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Achondroplasia	Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Short rib...	OMIM:100800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi...	ORPHA:308552
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Hypoglossia With Situs Inversus	Situs inversus totalis, Upper airway obstruction, Respiratory distress	OMIM:612776
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib morphology...	ORPHA:1452
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Secundum atrial septal defect, Patent ductus arteriosus, Res...	OMIM:617397
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Respiratory insufficiency, Exertional dyspnea	OMIM:614370
Phosphoribosylaminoimidazole Carboxylase Deficiency	Neonatal death, Lumbar hemivertebrae, Short neck, Missing ribs	OMIM:619859
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis	OMIM:618240
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Hemivertebrae, Mitral val...	OMIM:104350
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr...	ORPHA:887
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Renal insufficiency, Respiratory distress	ORPHA:289916
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Vertebral segment...	ORPHA:96061
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Hemivertebrae, Vertebral ...	OMIM:109400
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Glandular hypospadias, Respiratory insufficiency, Thin ribs, Micropenis, Penile hypospadias, Peno...	ORPHA:456328
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Joint swelling, Fused cervical vertebrae, Flaring of rib cage, Broad ribs	OMIM:612852
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of ...	ORPHA:1926
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Campomelic Dysplasia	Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Patellar hypoplasia, Pectus c...	OMIM:114290
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Abnor...	ORPHA:367
Cartilage-Hair Hypoplasia	Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lower rib cage, Hypoplasia of the odontoi...	OMIM:250250
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Wide cranial sutures, Death in infancy, Protrusio acetabuli, Pectus excav...	OMIM:610682
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib...	OMIM:618019
Koolen-De Vries Syndrome	Ureteral duplication, Vertebral fusion, Bicuspid aortic valve, Hypospadias, Pectus excavatum, Kyp...	ORPHA:96169
Erythrocytosis, Familial, 2	Varicose veins, Stroke, Cerebral hemorrhage	OMIM:263400
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima...	OMIM:231680
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, F...	ORPHA:175
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition	OMIM:125310
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Bent Bone Dysplasia Syndrome 2	Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Hypopla...	OMIM:620076
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Stage 5 chronic kidney disease, Methylmalonic aciduria, Cardiomyopathy, Tub...	OMIM:251000
Ellis-Van Creveld Syndrome	Hypospadias, Epispadias, Capitate-hamate fusion, Pectus carinatum, Genu valgum, Short ribs, Narro...	OMIM:225500
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology	ORPHA:2643
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Ventricular septal defec...	OMIM:117650
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Narrow chest, Abnormal form of the vertebral bodies, Thin ribs	ORPHA:73230
Pallister-Hall Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus ...	ORPHA:672
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Hypospadias, Asth...	ORPHA:209905
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, M...	OMIM:618733
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Cardiomegaly, Atrial septal def...	ORPHA:79330
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten...	OMIM:609008
Mgat2-Cdg	Respiratory distress, Ventricular septal defect, Pectus excavatum, Kyphosis, Patent ductus arteri...	ORPHA:79329
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Exercise-induced rhabdomyolysis, Ventricular septal defect, Episodic tachyp...	ORPHA:26793
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Ureteral duplication, Double outlet left ventricle, Ventricular septal defe...	ORPHA:2255
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the patella, Abnormality of the ureter, Abnormal carpal morphology, Abnorma...	ORPHA:1225
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology	ORPHA:93317
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome...	ORPHA:365
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Neonatal respiratory distress, Apnea,...	OMIM:608836
Trisomy 20P	Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Kyphosis, Abnormality of the ure...	ORPHA:261318
Otopalatodigital Syndrome Type 2	Abnormal heart valve morphology, Camptodactyly of finger, Hypospadias, Tarsal synostosis, Elbow d...	ORPHA:90652
Occipital Horn Syndrome	Orthostatic hypotension, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, ...	OMIM:304150
Thymic Carcinoma	Abnormal vena cava morphology	ORPHA:99868
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Pectus excavatum, Flexion contracture, Macroglossia, Respiratory failure, Promin...	ORPHA:254528
Carpenter Syndrome 1	Hydroureter, Ventricular septal defect, Sagittal craniosynostosis, Lateral displacement of patell...	OMIM:201000
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct...	OMIM:608978
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Arthrogryposis multi...	OMIM:236500
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Flexion contracture, Scoliosis	ORPHA:544503
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Antley-Bixler Syndrome	Camptodactyly of finger, Craniosynostosis, Abnormal renal morphology, Abnormal rib morphology, Na...	ORPHA:83
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Enlargement of the costochondra...	OMIM:619636
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Coat hanger sign of ribs, ...	ORPHA:254534
Lethal Congenital Contracture Syndrome 5	Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in...	OMIM:615368
Codas Syndrome	Congenital hip dislocation, Hydroureter, Ventricular septal defect, Abnormal form of the vertebra...	ORPHA:1458
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia...	ORPHA:568
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureteroc...	ORPHA:79404
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the ureter, Ventricular septal defect, Renal hypoplasia/aplasia	ORPHA:1770
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co...	OMIM:261740
Moebius Syndrome	Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly,...	OMIM:157900
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Cardiomegaly, Neonatal death, Arthrogryposis multiplex congenita, Th...	OMIM:608013
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Smith-Magenis Syndrome	Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal form of the vertebral bodies, Abnor...	ORPHA:819
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal atrial arrangement, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Farber Disease	Respiratory distress, Abnormality of the knee, Skeletal muscle atrophy, Flexion contracture, Abno...	ORPHA:333
Kyphomelic Dysplasia	Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Flat acetabular roof, Platyspondyly, ...	OMIM:211350
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Bifid sacrum, Vertebra...	ORPHA:1756
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Craniosynostosis, Lateral clavicle hook, Pectus excavatum, Wide anterior fontane...	OMIM:182212
Oculopharyngodistal Myopathy 1	Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci...	OMIM:164310
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Patent ductus arteriosus, Hip dislocation, Hydronephrosis, Scoliosis, Atria...	OMIM:300968
Aredyld Syndrome	Abnormality of the ureter, Scoliosis	ORPHA:1133
Congenital Tracheal Stenosis	Respiratory distress, Ventricular septal defect, Abnormality of the kidney, Neonatal asphyxia, Pa...	ORPHA:141127
Triosephosphate Isomerase Deficiency	Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to...	OMIM:615512
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Thoracolumbar scoliosis, Ureteral agenesis, Co...	ORPHA:2437
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Fetal pyelectasis, Respiratory distress	ORPHA:50810
Kaposi Sarcoma	Venous insufficiency	ORPHA:33276
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup...	OMIM:617478
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Prominent metopic ridge, Camptodactyly ...	ORPHA:2215
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse...	OMIM:612863
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Hypospadias, Kyphoscoliosis, Abnormal thorax ...	ORPHA:798
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing...	ORPHA:1329
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis	OMIM:202650
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Hypoplastic scapulae, Wormian bones, N...	OMIM:119600
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascul...	ORPHA:1900
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Bicuspid aortic valve, Protrusio acetabuli, Craniosynostosis, Patent duc...	OMIM:613795
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ...	OMIM:253200
Vater/Vacterl Association	Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d...	OMIM:192350
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicl...	ORPHA:2554
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Cerebrocostomandibular Syndrome	Death in infancy, Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Posterior rib gap, Bell-...	ORPHA:1393
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Pectus carinatum, Knee flexion contracture, Abnormal calcification of the carpal bone...	OMIM:271665
Melnick-Needles Syndrome	Hypoplastic scapulae, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis...	OMIM:309350
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Hypospadias, Apnea, Abnormal renal collecting syst...	ORPHA:17
Bacterial Toxic-Shock Syndrome	Respiratory distress, Myositis, Renal insufficiency, Recurrent urinary tract infections, Glomerul...	ORPHA:36234
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Abnormal rib morphology, Scoliosis	ORPHA:1300
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,...	ORPHA:2299
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Hypoplasia of penis, Respiratory distress	ORPHA:990
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Pyknoachondrogenesis	Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ribs, Horizont...	ORPHA:3003
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Increased variability in muscle fiber diameter, Stridor, Lacticaciduria	OMIM:615595
Frontometaphyseal Dysplasia	Limited elbow movement, Spina bifida occulta, Wrist flexion contracture, Dislocated radial head, ...	ORPHA:1826
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Hypospadias, Pulmonary arterial hypertension	OMIM:619272
8Q24.3 Microdeletion Syndrome	Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Ventricular septal defect, ...	ORPHA:508488
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis, Kyphoscoliosis	ORPHA:98805
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Monosomy 9Q22.3	Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col...	ORPHA:77301
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni...	OMIM:617516
Arterial Tortuosity Syndrome	Respiratory distress, Craniosynostosis, Myocarditis, Dyspnea, Dilated cardiomyopathy, Hip disloca...	ORPHA:3342
Restrictive Dermopathy 2	Respiratory distress, Short clavicles	OMIM:619793
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De...	OMIM:607778
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Limb hypertonia	OMIM:620306
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Ventricular septal defect, Patent ductus arteriosus, Short thorax, Renal hy...	OMIM:269860
Congenital Enterovirus Infection	Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion	ORPHA:292
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Unicoronal synostosis, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Flat acetabular ro...	OMIM:616300
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Left atrial enlargement, Limited elbow movement, Delayed closure of the ant...	OMIM:614008
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Cardiomegaly, Macro...	OMIM:617022
Tetanus	Respiratory distress, Elevated urinary epinephrine level, Tachypnea, Elevated urinary norepinephr...	ORPHA:3299
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h...	ORPHA:373
Arboleda-Tham Syndrome	Respiratory distress, Recurrent urinary tract infections, Neonatal respiratory distress, Ventricu...	OMIM:616268
Lymphatic Malformation 7	Pericardial effusion, Varicose veins, Atrial septal defect	OMIM:617300
Clapo Syndrome	Varicose veins, Venous malformation	ORPHA:168984
Telangiectasia, Hereditary Hemorrhagic, Type 4	Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat...	OMIM:610655
Tetrasomy 5P	Pectus excavatum, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:3309
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Osteogenesis Imperfecta	Multiple rib fractures, Cervical kyphosis, Protrusio acetabuli, Pectus excavatum, Kyphosis, Osteo...	ORPHA:666
Esophageal Atresia	Respiratory distress, Renal agenesis, Ventricular septal defect, Episodic respiratory distress, C...	ORPHA:1199
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Q Fever	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus...	ORPHA:781
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Contractures of the large joints, Scoliosis	ORPHA:329178
X-Linked Hypophosphatemia	Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi...	ORPHA:89936
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Varicose veins	OMIM:314300
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Ventricular septal defect, Facial palsy, Delayed closure of the ant...	OMIM:300373
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Lateral clavicle hook, Abnormal shoulder morphology, Vesicoureteral reflux,...	OMIM:274000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	11 pairs of ribs, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Cupped ribs, Radial head su...	OMIM:271640
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Proteinuria, Lateral clavicle hook, Chronic kidney disease...	OMIM:208500
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Paten...	OMIM:188400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dyspl...	OMIM:263520
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis	ORPHA:85167
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Acetabular spurs, Horizontal ribs	OMIM:613091
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta...	ORPHA:980
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Thin ribs	OMIM:614833
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Delayed cranial suture closure, Thin ribs	ORPHA:93324
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Kenny-Caffey Syndrome, Type 1	Thin clavicles, Long clavicles, Delayed closure of the anterior fontanelle, Thin ribs	OMIM:244460
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thoracolumbar vertebrae, E...	OMIM:252940
Waardenburg Syndrome, Type 1	Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly	OMIM:193500
Kagami-Ogata Syndrome	Kyphoscoliosis, Short neck, Large placenta, Bell-shaped thorax, Coat hanger sign of ribs, Thoraci...	ORPHA:254519
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Abnormal rib morphology, Short neck	ORPHA:488434
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Ulnar deviation of the wrist, Tarsal synostosis, Craniosynostosis, Cubitus ...	ORPHA:95699
Stuve-Wiedemann Syndrome 1	Death in infancy, Enlarged joints, Ovoid vertebral bodies, Short neck, Elbow flexion contracture,...	OMIM:601559
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Coccidioidomycosis	Respiratory distress, Pericarditis, Renal insufficiency, Abnormality of the kidney, Pneumonia, Ab...	ORPHA:228123
Hereditary Orotic Aciduria	Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Oro...	ORPHA:30
Diphallia	Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe...	ORPHA:227
Familial Visceral Myopathy	Hydroureter, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Megac...	ORPHA:2604
Toxic Epidermal Necrolysis	Respiratory distress, Renal insufficiency, Dysuria, Abnormality of the urethra, Restrictive venti...	ORPHA:537
Atypical Werner Syndrome	Skeletal muscle atrophy, Renal neoplasm, Aortic valve calcification, Abnormal thorax morphology, ...	ORPHA:79474
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra...	OMIM:600001
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Pectus excavatum, Lumbar hemivertebrae, Thin ribs	ORPHA:2463
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs	ORPHA:1647
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V...	ORPHA:93930
Craniotubular Dysplasia, Ikegawa Type	Optic neuropathy, Increased intervertebral space, Optic atrophy, Platyspondyly, Broad ribs, Optic...	OMIM:619727
Van Den Ende-Gupta Syndrome	Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle...	OMIM:600920
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Long clavicles, Contracture of the distal interphalangeal joint of the fing...	ORPHA:83617
Lujo Hemorrhagic Fever	Respiratory distress, Renal insufficiency, Crackles, Myocarditis, Nonproductive cough, Oliguria, ...	ORPHA:319213
Hallermann-Streiff Syndrome	Spina bifida, Hyperlordosis, Pectus excavatum, Optic disc coloboma, Thin ribs, Abnormal rib cage ...	OMIM:234100
Vici Syndrome	Renal tubular acidosis, Cardiomyopathy, Ureteral atresia, Death in infancy	ORPHA:1493
Listeriosis	Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Rhabdomyolysis, Endocard...	ORPHA:533
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Lateral clavicle hook, Wide anterior fontanel, Long thorax, Narrow chest, Short ribs,...	OMIM:617925
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Abnormality of the knee, Hyperphosphaturia, Calcification of the auricul...	ORPHA:51608
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Ureteral stenosis, Hypospadias, Hydroureter, Wormian bones, Metopic suture patent...	OMIM:269150
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Livedoid Vasculopathy	Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke	ORPHA:542643
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Congenital diaphragmatic hernia, Ectopic kidney, Unilateral ...	OMIM:617641
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	ORPHA:93260
Cardiac Valvular Dysplasia 1	Hydroureter, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pul...	OMIM:212093
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Epistaxis, Dyspnea, Chr...	ORPHA:340
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Ureteral atresia, Stage 5 ...	OMIM:208540
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Hemivertebrae, Hip di...	ORPHA:93929
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolyt...	ORPHA:79282
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect, Respiratory distress	OMIM:610536
Foix-Alajouanine Syndrome	Arteriovenous fistula, Venous malformation	ORPHA:79093
Osteoglophonic Dysplasia	Respiratory distress, Hypoplastic scapulae, Hypospadias, Camptodactyly of finger, Craniosynostosi...	OMIM:166250
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Heparan sulfate excretion in urine, Flexion contractu...	ORPHA:581
Peutz-Jeghers Syndrome	Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Alagille Syndrome 1	Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ab...	OMIM:118450
Pagod Syndrome	Abnormal clavicle morphology, Multicystic kidney dysplasia, Death in infancy, Congenital diaphrag...	ORPHA:991
Ulbright-Hodes Syndrome	Abnormal penis morphology, Respiratory distress, Humeroradial synostosis, Abnormal rib morphology...	ORPHA:3404
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Flat acetabular...	OMIM:250220
Weill-Marchesani Syndrome 1	Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis	OMIM:277600
Infantile Krabbe Disease	Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness, Respiratory distress	ORPHA:206436
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Abnormality of the kidney, Patent ductus arteriosus, Abnormal heart morphol...	ORPHA:177907
Fryns Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Renal agenesis, Renal cyst, Thin ri...	OMIM:229850
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Abnormal cerebral vascular morphology	ORPHA:276280
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the ureter, Hyperlordosis	ORPHA:3253
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Proteinuria, Hemolytic-uremic syndrome, Microscopic hematuria, Abnormal ren...	OMIM:274150
Colchicine Poisoning	Respiratory distress, Renal insufficiency, Myocarditis, Oliguria, Cardiorespiratory arrest	ORPHA:31824
Thymic Neuroendocrine Tumor	Abnormal vena cava morphology, Prominent veins on trunk	ORPHA:97289
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Apnea, Hyperventilation, Dyspnea, Dilated cardiomyopathy, Ragged-red m...	ORPHA:255210
Renal Nutcracker Syndrome	Varicose veins, Vulval varicose vein, Renal artery stenosis, Dilatation of mesenteric artery	ORPHA:71273
Japanese Encephalitis	Respiratory distress, Skeletal muscle atrophy, Genu recurvatum, Facial palsy, Elbow flexion contr...	ORPHA:79139
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Gitelman Syndrome	Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericardial...	ORPHA:358
Renal Agenesis	Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei...	ORPHA:411709
Cocaine Intoxication	Respiratory distress, Proteinuria, Glomerulonephritis, Wheezing, Rhabdomyolysis, Tachypnea, Pneum...	ORPHA:90068
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Humeroradial synostosis, Hemivertebrae, Elbow flexion contracture, Knee flexion ...	OMIM:151050
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Craniosynostosis, Valvular pulmona...	OMIM:300707
Alpha-Mannosidosis, Infantile Form	Optic disc pallor, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Pectus carinat...	ORPHA:309282
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi...	ORPHA:249
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormal rib morphology, Skeletal muscle hype...	ORPHA:2588
Premature Aging Syndrome, Penttinen Type	Hyperextensibility of the knee, Thin ribs, Cervical ribs, Scoliosis, Wormian bones, Flexion contr...	OMIM:601812
Wolfram Syndrome 1	Cardiomyopathy, Neurogenic bladder, Hydroureter, Hydronephrosis	OMIM:222300
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, 3-Methylglutaconic aciduria, Flexion contracture, Recurrent pneumonia	OMIM:616271
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormal vena cava morp...	ORPHA:1677
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Ankle swelling, Pulmonary embolism, Dyspnea, Asthm...	ORPHA:3260
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Enlargement of the ankles, Multiple joint contractures, Unilateral renal ag...	ORPHA:99646
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Hemivertebrae, Narrow chest, Atrial septal defect, Interphalangeal joint con...	ORPHA:96334
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Delayed closure of the ante...	OMIM:618460
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Respirator...	OMIM:614748
Meckel Syndrome 12	Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Bilateral renal agenesis, Arthrogry...	OMIM:616258
Nocardiosis	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,...	ORPHA:31204
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection	OMIM:618343
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Patent foramen ovale, Patent ductus arteriosus, Hypertrophy of the urinary bladder, ...	ORPHA:280633
Rubinstein-Taybi Syndrome 1	Respiratory distress, Ventricular septal defect, Hypospadias, Pectus excavatum, Patent ductus art...	OMIM:180849
Myhre Syndrome	Vertebral fusion, Short neck, Enlarged vertebral pedicles, Platyspondyly, Broad ribs	OMIM:139210
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect	ORPHA:166035
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Mandibuloacral Dysplasia Progeroid Syndrome	Mitral valve calcification, Proteinuria, Pectus excavatum, Flexion contracture, Thin ribs, Genu v...	OMIM:619127
Biotinidase Deficiency	Respiratory distress, Apnea, Organic aciduria, Limb muscle weakness, Hyperventilation	ORPHA:79241
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Joint dislocation, Congenital hip dislocation, Protrusio acetabuli, Kyphoscoliosis, Thin ribs, Pl...	OMIM:225400
Rodrigues Blindness	Nasal flaring	OMIM:268320
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Blad...	OMIM:614080
Autosomal Dominant Spastic Paraplegia Type 10	Varicose veins	ORPHA:100991
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Limited elbow extension, Hypospadias, Craniosynostosis	OMIM:123790
Alg9-Cdg	Hypoplasia of the bladder, Torticollis, Prominent metopic ridge, Ventricular septal defect, Urete...	ORPHA:79328
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Bicuspid aortic valve	OMIM:616367
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Megacystis	ORPHA:2241
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos...	OMIM:602782
Eisenmenger Syndrome	Respiratory distress, Renal insufficiency, Ventricular septal defect, Increased pulmonary vascula...	ORPHA:97214
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta...	ORPHA:805
Restrictive Dermopathy 1	Ureteral duplication, Limb joint contracture, Hypospadias, Kyphoscoliosis, Thin clavicles, Patent...	OMIM:275210
Ethylene Glycol Poisoning	Renal insufficiency, Facial palsy, Abnormal pattern of respiration, Tachypnea, Episodic respirato...	ORPHA:31826
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Venous malformation	OMIM:612918
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Limited elbow movement, Delayed cl...	OMIM:610759
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis	ORPHA:1555
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Castleman Disease	Renal insufficiency, Dyspnea, Hematuria, Cough, Restrictive cardiomyopathy, Ureteral obstruction	ORPHA:160
Autosomal Recessive Malignant Osteopetrosis	Apnea, Abnormal pulmonary valve morphology, Craniosynostosis, Abnormal rib morphology, Narrow che...	ORPHA:667
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Limited elbow extension, Genu...	OMIM:300106
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic acid...	OMIM:251100
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney	OMIM:602200
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Unilateral renal agenesis, Pectus excavatum, Prominent crus of heli...	OMIM:619194
Cranioectodermal Dysplasia 2	Renal insufficiency, Craniosynostosis, Pectus excavatum, Patent ductus arteriosus, Recurrent pneu...	OMIM:613610
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Short thorax, Renal hypoplasia, Ureteral agenesis, Res...	OMIM:617666
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality ...	ORPHA:3380
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Ureter...	ORPHA:1662
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the crus of the helix	ORPHA:137888
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Barrel-shaped chest, Pilonidal sinus, Occipital meningocele, Aplasia/Hypoplasia involving the car...	OMIM:276820
Oculocerebrorenal Syndrome Of Lowe	Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Death in infancy, Abnormal r...	ORPHA:534
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Torticollis, Hypospadias, Craniosynostosis, Pectus excavatum, Hip dislocation, Undulate ribs, Hor...	OMIM:609945
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr...	OMIM:270100
Proteus-Like Syndrome	Venous insufficiency	ORPHA:2969
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus, Respiratory distress	ORPHA:1051
Igg4-Related Kidney Disease	Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina...	ORPHA:449395
Gracile Bone Dysplasia	Death in infancy, Micropenis, Thin ribs	OMIM:602361
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Ketonuria, Methylmalonic aciduria	OMIM:251110
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Respiratory distress, Hypospadias, Congenital diaphragmatic hernia, Ep...	ORPHA:2556
Sepsis In Premature Infants	Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system physiology, O...	ORPHA:90051
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus	ORPHA:33001
Oeis Complex	11 pairs of ribs, Duplicated collecting system, Hydroureter, Renal agenesis, Congenital hip dislo...	OMIM:258040
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Alternating Hemiplegia Of Childhood	Respiratory distress, Facial hypotonia, Apnea, Cardiomyopathy, Aspiration	ORPHA:2131
Doors Syndrome	11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Respiratory distress, Sagitt...	ORPHA:79500
Raine Syndrome	Death in infancy, Hydroureter, Pectus excavatum, Neonatal death, Arthrogryposis multiplex congeni...	OMIM:259775
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor...	ORPHA:857
Fetal Akinesia Deformation Sequence 1	Hip contracture, Camptodactyly of finger, Short neck, Thin ribs, Stillbirth, Short umbilical cord...	OMIM:208150
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Hip dislocation, Genu valgum, Umbilical hernia, Broad ribs, Limited elbow extension	OMIM:301066
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Otosclerosis, Thickened ribs, Camptodactyly of finger, Optic atrophy, Spinal canal s...	ORPHA:217085
Xylt1-Cdg	Joint dislocation, Broad ribs, Short clavicles	ORPHA:370930
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Pneumonia, Tubulointerstitial nephritis, Nephrotic syndrome, Memb...	ORPHA:37042
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Death in infancy, Optic atrophy, Death in childhood, Optic nerve compression	OMIM:612301
X-Linked Intellectual Disability, Nascimento Type	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morpholo...	ORPHA:163956
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Facial hypotonia, Heparan sulfate excretion in urine, Intrinsic hand muscle...	OMIM:615273
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd...	ORPHA:79403
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Elbow flexion contracture, Spinal canal stenosis, Umbilical hernia, Scolios...	OMIM:608328
Monosomy 9P	Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck	ORPHA:261112
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Otosclerosis, Thickened ribs, Camptodactyly of finger, Optic atrophy, Spinal canal s...	ORPHA:217093
Charge Syndrome	Facial palsy, Patent ductus arteriosus, Abnormal rib morphology, Hemivertebrae, Horseshoe kidney,...	ORPHA:138
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Patent ductus arteriosus, Abn...	OMIM:249000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Facial hypotonia	ORPHA:438216
Classical-Like Ehlers-Danlos Syndrome Type 2	Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V...	ORPHA:536532
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Flexion contracture, Aplasia of the bladder, Abnorma...	ORPHA:158684
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Prominent metopic ridge, Craniosynostosis, Short thorax, Stage 5 chronic ki...	OMIM:266920
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Menkes Disease	Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Abnormal carotid artery morphol...	ORPHA:565
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612541
Meige Disease	Varicose veins	ORPHA:90186
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ...	ORPHA:3206
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Hydroureter, Abnormality of the upper urinary tract, Scoliosis, Osteocho...	ORPHA:2995
Lymphatic Malformation 6	Atrial septal defect, Varicose veins, Intestinal lymphangiectasia	OMIM:616843
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia	OMIM:617914
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Death in childhood, Uric a...	OMIM:300661
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the urethra, Abnormal rib ...	ORPHA:2907
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic ac...	OMIM:617156
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena...	ORPHA:49
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas...	ORPHA:84
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal a...	ORPHA:90324
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Congenital hip dislocation, Thoracolumbar scoliosis, Patent ductus arterios...	ORPHA:480880
Sotos Syndrome	Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Atrial septal defect, Abnormal ...	ORPHA:821
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Eiken Syndrome	Broad ribs, Delayed ossification of carpal bones, Flat acetabular roof	OMIM:600002
Adnp Syndrome	Respiratory distress, Aspiration, Recurrent urinary tract infections, Urinary incontinence	ORPHA:404448
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Ventricular s...	OMIM:301068
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Down-sloping shoulders, Renal agenesis...	OMIM:214800
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Ureteral agenesis, Bilateral renal agenesis, Stil...	OMIM:617667
Isolated Arrhinia	Respiratory distress, Absent nasal septal cartilage	ORPHA:1134
Beckwith-Wiedemann Syndrome	Ureteral duplication, Prominent metopic ridge, Diastasis recti, Rhabdomyosarcoma, Congenital diap...	ORPHA:116
Peutz-Jeghers Syndrome	Abnormality of the ureter, Bladder polyp	OMIM:175200
Leptospirosis	Respiratory distress, Pericarditis, Cellular urinary casts, Rhabdomyolysis, Cough, Pleural effusi...	ORPHA:509
Kindler Epidermolysis Bullosa	Urethral stricture, Camptodactyly of finger, Phimosis, Flexion contracture, Abnormal rib morpholo...	ORPHA:2908
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormally ossified vertebrae, Hydroureter, Abnormality of the kidney, Abnormality of the upper u...	ORPHA:2636
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Asthma, Pelvic kidney, Nasal flaring	ORPHA:466943
Coffin-Siris Syndrome 1	Hydroureter, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Ectopic kid...	OMIM:135900
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa...	ORPHA:567
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy	OMIM:256810
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati...	ORPHA:95455
Telangiectasia, Hereditary Hemorrhagic, Type 1	Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati...	OMIM:187300
Osteopetrosis With Renal Tubular Acidosis	Pectus excavatum, Proximal renal tubular acidosis, Nephrolithiasis, Renal tubular acidosis, Pulmo...	ORPHA:2785
H Syndrome	Varicose veins	ORPHA:168569
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol...	ORPHA:500095
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Renal duplication	OMIM:270420
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Occipital Horn Syndrome	Venous insufficiency, Vascular dilatation	ORPHA:198
Plague	Respiratory distress, Abnormality of the elbow, Endocarditis, Acute infectious pneumonia, Arthritis	ORPHA:707
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Peters-Plus Syndrome	Ureteral duplication, Ventricular septal defect, Diastasis recti, Hypospadias, Limited elbow move...	OMIM:261540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
White-Kernohan Syndrome	Metopic synostosis, Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Diastasis recti, Congenital diaphragmatic herni...	OMIM:305600
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Microphthalmia With Limb Anomalies	Venous insufficiency	ORPHA:1106
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Aortic valve calcification, Calcification of the aorta, Varicose vein...	ORPHA:2072
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Pneumonia, Delayed closure of the anterior fontanelle, Secundum atrial septal defect...	OMIM:264090
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydroureter, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydr...	OMIM:236700
Microphthalmia, Syndromic 1	Hydroureter, Bicuspid aortic valve, Down-sloping shoulders, Hypospadias, Renal hypoplasia/aplasia...	OMIM:309800
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent...	ORPHA:709
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bla...	ORPHA:64
Vascular Ehlers-Danlos Syndrome	Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ...	ORPHA:286
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ...	OMIM:129900
Early Infantile Epileptic Encephalopathy	Micropenis, Ventricular septal defect, Renal dysplasia, Ureterocele	ORPHA:1934
Skin Creases, Congenital Symmetric Circumferential, 2	Pectus excavatum, Hypospadias, Ureterocele	OMIM:616734
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Ehlers-Danlos Syndrome, Vascular Type	Descending aortic dissection, Mitral valve prolapse, Varicose veins, Dilatation of the cerebral a...	OMIM:130050
Pmm2-Cdg	Respiratory distress, Pericarditis, Multiple joint contractures, Proteinuria, Kyphoscoliosis, Per...	ORPHA:79318
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection	ORPHA:285
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia	ORPHA:564
Proboscis Lateralis	Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis...	ORPHA:141099
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract, Abnormality of the ...	ORPHA:2273
Peroxisome Biogenesis Disorder 4B	Ureterocele	OMIM:614863
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Ureteral duplication	ORPHA:457212
Homozygous Familial Hypercholesterolemia	Dyspnea, Tendon xanthomatosis, Renal steatosis, Abnormal tendon morphology, Renal artery stenosis...	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
Tbx18^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tbx18^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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