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Gene: Mycn MGI:97357

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived

Synonyms:

Nmyc1, Nmyc, N-myc, Nmyc-1, bHLHe37

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 Mycn 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 Mycn (3 diseases)
Human diseases predicted to be associated with Mycn (1310 diseases)

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

Disease	Matching phenotypes	Source
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Short...	OMIM:164280
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Short middle phalanx of the 2nd finger, Shor...	ORPHA:391641
Neuroblastoma	Elevated urinary catecholamine level	ORPHA:635

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

Disease	Matching phenotypes	Source
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Joint laxity, Hand muscle atrophy, Lumbar hyperlordosis, Spondylolisthesis at L5-...	OMIM:600561
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ...	OMIM:300717
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc...	ORPHA:266
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Cardiomyopathy, Dilated, 1B	Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra...	OMIM:600884
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Patent ductus arteriosu...	OMIM:618845
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Recurrent respiratory infections, Death in infancy, Block vertebrae,...	OMIM:277300
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory...	OMIM:253300
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Muscular Dystrophy, Congenital, 1B	Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto...	OMIM:604801
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ...	OMIM:611369
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos...	OMIM:606612
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Pulmonary Blastoma	Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Cough	ORPHA:64741
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio...	OMIM:618052
Hyperekplexia 4	Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, U...	OMIM:618011
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con...	ORPHA:75840
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs inversus totalis...	OMIM:208530
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Congenital Myopathy 21 With Early Respiratory Failure	Spinal rigidity, Dyspnea, Lipoid pneumonia, Hypertrophic cardiomyopathy, Respiratory failure, Noc...	OMIM:620326
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Facial palsy, Increased variability in muscle fibe...	OMIM:614399
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,...	OMIM:616081
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar...	OMIM:306955
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac...	OMIM:607155
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Diaphanospondylodysostosis	Respiratory distress, Short neck, Myelomeningocele, Absent or minimally ossified vertebral bodies...	ORPHA:66637
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res...	ORPHA:50251
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Symphalangism Of Toes	Synostosis involving bones of the toes	OMIM:185600
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Genu valgum, Irregular vertebral endplates, Platys...	OMIM:609223
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu...	ORPHA:370968
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp...	OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ...	OMIM:611890
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Hydrocephalus, Optic atrophy, Hypoplasia of the brainstem, Pulmonary hypoplasia, C...	OMIM:618174
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy...	OMIM:616198
Nemaline Myopathy 8	Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ...	OMIM:615348
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Scimitar Syndrome	Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ...	ORPHA:185
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Abnormal heart morphology, Respiratory failure, Abnormality of the ver...	OMIM:276950
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Multiple prenata...	OMIM:616867
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat...	OMIM:611705
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa...	ORPHA:2345
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Intrauterine growth retardation, Congestive heart failure	OMIM:301021
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Skeletal muscle atrophy, Facial palsy...	ORPHA:98913
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Venous ...	ORPHA:90308
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Short neck, Dyspnea, Respiratory failure, Intrauterine growth retardation, ...	ORPHA:1832
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Dextrocardia, Short neck...	OMIM:613686
Alg3-Cdg	Abnormality of the gastrointestinal tract, Hypoplasia of the pons, Coarctation of the descending ...	ORPHA:79321
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Combined Oxidative Phosphorylation Deficiency 17	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency...	ORPHA:254875
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong...	OMIM:614473
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Hypoplasia of penis, Congestive heart failure, Endocardial fibroelast...	ORPHA:2022
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy	OMIM:613869
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmo...	OMIM:601186
Succinic Acidemia	Respiratory distress	OMIM:600335
Spondyloepiphyseal Dysplasia, Kimberley Type	Delayed skeletal maturation, Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr...	OMIM:616583
Metatropic Dysplasia	Relatively short spine, Enlarged joints, Kyphoscoliosis, Abnormal enchondral ossification, Hypopl...	OMIM:156530
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet...	OMIM:271530
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial h...	OMIM:619879
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e...	OMIM:540000
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Knee flexion contracture, Pul...	OMIM:616531
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Wide an...	OMIM:113000
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Fatty replacement of skeletal mu...	OMIM:620249
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Peripartum Cardiomyopathy	Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn...	ORPHA:563
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture...	ORPHA:2590
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Redundant neck skin, Short neck, Renal hypoplasia, Renal cyst, Ureteral agenesis, Hypoplasia of t...	OMIM:236500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Increased urine succinate level, Congestive heart failure, Bradycardia, ...	OMIM:619048
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat...	ORPHA:90117
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Verheij Syndrome	Branchial cyst, Vertebral fusion, Joint laxity, Ventricular septal defect, Short neck, Hemiverteb...	OMIM:615583
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Ragged-red muscle fibers, Polyhydramnios	OMIM:616794
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Muscular Dystrophy, Duchenne Type	Hypoventilation, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insufficiency due to m...	OMIM:310200
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ...	OMIM:234810
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lacticaciduria, Cardiomyopathy, Pulm...	OMIM:619003
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del...	ORPHA:85198
Atelosteogenesis, Type Ii	Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s...	OMIM:256050
Epiphyseal Dysplasia, Multiple, 7	Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge...	OMIM:617719
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene...	ORPHA:750
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co...	ORPHA:275766
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ossification of...	OMIM:617974
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L...	ORPHA:57777
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo...	OMIM:265120
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l...	OMIM:615524
Lethal Congenital Contracture Syndrome 11	Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp...	OMIM:617194
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Sandhoff Disease	Recurrent respiratory infections, Cherry red spot of the macula, Congestive heart failure	ORPHA:796
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Ventricular septal defect, Elbow contracture, Multiple pterygi...	OMIM:178110
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Pulmonary hypoplasia, Intestinal malrotation, Dandy-Walker malforma...	ORPHA:3032
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short stature, Hydrocephalus, Cleft palate, Micropenis, Chiari type I ma...	OMIM:241800
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Type 1...	ORPHA:98905
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H...	OMIM:616414
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly...	ORPHA:2619
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Multiple joint...	OMIM:618291
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture...	OMIM:603689
Marden-Walker Syndrome	Decreased muscle mass, Short neck, High, narrow palate, Congenital contracture, Zollinger-Ellison...	OMIM:248700
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck	OMIM:214300
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st...	ORPHA:2414
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness...	ORPHA:352447
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Partial anomalous pulmona...	ORPHA:95430
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Heterotaxy, Visceral, 5, Autosomal	Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intesti...	OMIM:270100
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Vertebral clefting, Hemivertebrae, Restrictive vent...	OMIM:608681
Maternally-Inherited Diabetes And Deafness	Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophi...	ORPHA:225
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Flexion contracture, Facial d...	ORPHA:171433
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough	ORPHA:77260
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arterio...	ORPHA:137667
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra...	OMIM:610967
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp...	ORPHA:99642
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta...	ORPHA:411703
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart failu...	ORPHA:1194
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck	OMIM:244600
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Pneumothora...	ORPHA:1302
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skel...	OMIM:255320
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Hypospadias, Sudd...	OMIM:610198
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Non-Involuting Congenital Hemangioma	Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie...	ORPHA:141179
Mulibrey Nanism	Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Pericardial constri...	OMIM:253250
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respiratory insufficiency, Platyspo...	ORPHA:2771
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Congenital contracture, Respiratory failure	OMIM:225753
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo...	OMIM:620294
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Arthrogryposis Multiplex Congenita 6	Death in infancy, Increased variability in muscle fiber diameter, Respiratory failure, Death in c...	OMIM:619334
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Dyspnea, Hemivertebrae, Abnormal form of ...	ORPHA:2759
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ...	OMIM:617468
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Patent ductus art...	ORPHA:2847
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Intestinal mal...	OMIM:618316
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myel...	ORPHA:2437
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Delayed eruption of teeth, Hypospadias, Short stature, Pyloric stenosis, Patent du...	OMIM:619148
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Pseudodiastrophic Dysplasia	Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis	ORPHA:85174
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Flexion contracture, Hypertension, Abnormal renal corticomedullary ...	OMIM:616733
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral...	OMIM:271630
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae	ORPHA:313892
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Wildervanck Syndrome	Fused cervical vertebrae, Meningocele, Facial palsy, Short neck	ORPHA:3456
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Syndac...	OMIM:308050
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Heterotaxy, Visceral, 12, Autosomal	Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Pulmonary artery atresia, Situ...	OMIM:619702
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Abnormal heart morphology, Cardiomyopathy, Respiratory fa...	ORPHA:79327
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc...	OMIM:615703
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Respiratory distress	OMIM:615993
Morquio Syndrome C	Platyspondyly	OMIM:252300
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Strid...	OMIM:606071
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic...	ORPHA:568051
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C...	ORPHA:2332
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Combined Oxidative Phosphorylation Deficiency 51	Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p...	OMIM:619057
Familial Dyskinesia And Facial Myokymia	Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia	ORPHA:324588
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate	ORPHA:2631
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie...	ORPHA:141184
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Neonatal respiratory distress, Increased intervertebral space, Thoracic platyspondyly, Patent duc...	OMIM:618961
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a...	OMIM:616866
Infantile Sialic Acid Storage Disease	Cardiomegaly, Congestive heart failure, Hydrops fetalis, Nephrotic syndrome, Ascites	OMIM:269920
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers...	OMIM:608647
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Elbow dislocation, Kyphosis, Hemivertebrae, Ab...	ORPHA:2916
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Desminopathy	Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop...	ORPHA:98909
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnor...	ORPHA:2357
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Wrist swelling, Irregular vertebral endplates, Abnormal hip joi...	ORPHA:1159
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Arterial Calcification, Generalized, Of Infancy, 1	Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,...	OMIM:208000
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Fryns Syndrome	Congenital diaphragmatic hernia, Short neck, Abnormal aortic arch morphology, Gastroesophageal re...	ORPHA:2059
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, Abnormal heart morphology	ORPHA:1445
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Ventricular septal defect, Respiratory failure, Hypertrophic cardiomyopathy	OMIM:616277
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Myopa...	OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:618234
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Skeletal muscle atrophy, Nemaline bod...	OMIM:620278
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Myocarditis, Congestive ...	ORPHA:206569
Thanatophoric Dysplasia	Increased nuchal translucency, Hydrocephalus, Patent ductus arteriosus, Pulmonary hypoplasia, Dis...	ORPHA:2655
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar...	ORPHA:79126
Combined Oxidative Phosphorylation Deficiency 22	Intrauterine growth retardation, Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios...	ORPHA:363705
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia	ORPHA:157973
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona...	ORPHA:133
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Hypoxemia	ORPHA:2140
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo...	ORPHA:93315
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis, Genu varum	OMIM:618728
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios	ORPHA:163596
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Platyspondyly, Genu valgum	OMIM:609324
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jugular vein morp...	ORPHA:1677
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopathy, Myopathy, Cervical C2/C...	OMIM:616549
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Cednik Syndrome	Nephrotic syndrome, Stroke, Congestive heart failure, Proteinuria	ORPHA:66631
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Pe...	ORPHA:449280
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Mitral valve calcification, Kyphosis, Aortic valve ...	OMIM:203500
Hemochromatosis, Type 2A	Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:602390
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur, Stroke, Bacterial ...	ORPHA:1054
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Cleft palate, Genera...	ORPHA:994
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Short neck, Flexion contracture, Cleft pala...	OMIM:616897
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Short ...	OMIM:130720
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae...	OMIM:230650
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Nephrocalcinos...	ORPHA:500533
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Renal Tubular Dysgenesis	Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Tetralogy of Fallot	ORPHA:3033
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Umbilical hernia, A...	ORPHA:915
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Mucopolysaccharidosis, Type Iva	Short neck, Anterior beaking of lumbar vertebrae, Joint laxity, Hyperlordosis, Hypoplasia of the ...	OMIM:253000
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis	OMIM:612847
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Dental Anomalies And Short Stature	Delayed skeletal maturation, Mitral valve prolapse, Platyspondyly, Herniation of intervertebral n...	OMIM:601216
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Enlarged kidney, Uret...	OMIM:314390
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf...	ORPHA:36238
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Ankle clonus, Proximal muscle w...	OMIM:613954
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Ventricular septal defect, Hypospadias, Large placenta...	ORPHA:1708
Gorlin Syndrome	Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis	ORPHA:377
Fabry Disease	Renal insufficiency, Transient ischemic attack, Proteinuria, Myocardial infarction, Lymphedema, A...	OMIM:301500
Tonne-Kalscheuer Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Abnorm...	OMIM:300978
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Short stature, Spina bifida, Congenital diaphragmati...	ORPHA:991
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficien...	OMIM:245400
Short-Rib Thoracic Dysplasia 12	Natal tooth, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Short neck, ...	OMIM:269860
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif...	OMIM:208230
Spondylometaphyseal Dysplasia, Axial	Restrictive ventilatory defect, Platyspondyly, Recurrent pneumonia, Scoliosis	OMIM:602271
Perching Syndrome	Respiratory distress	OMIM:617055
Thanatophoric Dysplasia Type 2	Encephalocele, Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Respiratory insu...	ORPHA:93274
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Platyspondyly, Osteoarthritis	OMIM:271600
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Weakness of facial musculature, Respiratory failure	OMIM:618637
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Larsen-Like Syndrome, Lethal Type	Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Congenital diaphrag...	ORPHA:2260
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Aqueductal stenosis, Splenomegaly, Pulmonary hypoplasia, Intrauterine gro...	ORPHA:3035
Distal Triplication 15Q	Hydrocephalus, Flexion contracture, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe ...	ORPHA:314588
Hemochromatosis, Type 1	Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effus...	OMIM:235200
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Diaphragmatic eventration, Camptodactyly of finger, Spinal muscular atrophy, Denervation of the d...	OMIM:604320
Odontochondrodysplasia	Respiratory distress, Death in infancy, Patent ductus arteriosus, Joint hyperflexibility, Platysp...	ORPHA:166272
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Atrial situs ambiguous, Abnorm...	ORPHA:244
Pyle Disease	Reduced bone mineral density, Genu valgum, Platyspondyly, Scoliosis, Cubitus valgus, Limited elbo...	OMIM:265900
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Hypospadias, Facial palsy, Flexion contracture, Facial diplegia, Pulmona...	ORPHA:171430
Tetrasomy 5P	Recurrent respiratory infections, Redundant neck skin, Short neck, Postnatal growth retardation, ...	ORPHA:3309
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l...	OMIM:305620
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu...	OMIM:264800
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Short neck, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal...	OMIM:118100
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Stroke-like episode, Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal heart morpho...	ORPHA:70472
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility	ORPHA:168555
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Hypoplasia of the pons, Interstitial emphysema, Bronchiectasis, Optic atrophy...	OMIM:619708
Hemochromatosis, Type 2B	Cardiomyopathy, Congestive heart failure	OMIM:613313
Serkal Syndrome	Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni...	ORPHA:139466
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Camptodactyly of finger, Aplasia/Hyp...	ORPHA:2990
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, ...	ORPHA:2020
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od...	OMIM:264180
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Greenberg Dysplasia	Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica...	ORPHA:1426
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process	ORPHA:85172
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Abnormal hemidiaphragm morphology, Dextrocar...	ORPHA:2257
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Pulmonary hypoplasia, Intestinal malrotation, Congenital diaphragma...	OMIM:601163
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congesti...	ORPHA:367
Acropectorovertebral Dysplasia	Capitate-hamate fusion, Spina bifida occulta at S1, Spina bifida occulta at L5, Abnormal vertebra...	OMIM:102510
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Flexion contracture, Predominantly lower limb lymphedema, Camptodactyly...	ORPHA:261519
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Larsen Syndrome	Joint laxity, Vertebral fusion, Atrial septal defect, Ventricular septal defect, Cervical kyphosi...	OMIM:150250
1Q41Q42 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Hyposegmentation of neutrophil nuclei, Submucous ...	ORPHA:250999
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Stroke, Hypertrophic car...	OMIM:611126
Hall-Riggs Syndrome	Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral endplates, Platyspondyly...	OMIM:234250
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Pulmonary hypoplasia, Neonatal death, Art...	OMIM:253310
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Pa...	OMIM:239850
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Generalized joint laxity, Multiple joint dislocation, Abnormal c...	ORPHA:93360
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Meckel Syndrome, Type 1	Occipital encephalocele, Short neck, Asplenia, Lobulated tongue, Molar tooth sign on MRI, Agenesi...	OMIM:249000
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Thoracoabdominal Syndrome	Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arteriosus, Anencephal...	OMIM:313850
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck...	OMIM:272460
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hamartoma of tongue, Congenital diaphragmatic hernia, Short neck, H...	OMIM:616546
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis	ORPHA:93283
Acquired Aneurysmal Subarachnoid Hemorrhage	Cerebral hemorrhage, Myocardial infarction, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Dandy-Walker malformation, Rhizomelia, Hamartoma of tongue, Patent du...	OMIM:616300
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Biconvex vertebral bodies, Death in infan...	OMIM:184260
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Short neck, Apl...	ORPHA:2570
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat...	ORPHA:1335
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Abnormal respiratory system physi...	ORPHA:93346
Lambert Syndrome	Ventricular septal defect, Hypospadias, Branchial anomaly, Aplasia/Hypoplasia of the cerebellum, ...	ORPHA:1296
Multiple Epiphyseal Dysplasia, Beighton Type	Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Joint stiffness, Thoracic plat...	ORPHA:166011
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness, Abnorma...	OMIM:266500
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo...	OMIM:618000
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly	OMIM:156510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Irregular vertebral endpla...	OMIM:618395
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough	ORPHA:142
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus ...	ORPHA:370959
Spondylometaphyseal Dysplasia, Type A4	Ovoid vertebral bodies, Flat acetabular roof, Platyspondyly, Osteoporotic tarsals, Irregular pate...	OMIM:609052
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Cardiomegaly, ...	ORPHA:99931
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Accessory spleen, Morgagni diaphragmatic hernia, Pyloric ste...	OMIM:613177
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Holoprosencephaly,...	OMIM:202650
Caudal Regression Syndrome	Decreased muscle mass, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral b...	ORPHA:3027
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short...	OMIM:183900
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest...	ORPHA:2326
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Flexion contracture, Respiratory insufficiency, Facial diplegia, Respirat...	OMIM:618186
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia	ORPHA:3386
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Short neck, Muscular ventricular septal defect, Respiratory failure, Per...	OMIM:618804
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Arthrogryposis multiplex congenita, Respira...	OMIM:615330
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Du...	ORPHA:2470
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Abn...	OMIM:263210
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Short neck, N...	OMIM:617022
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Atelectasis,...	ORPHA:258
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz...	ORPHA:79083
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Bicuspid aortic valve, Ventricular sept...	OMIM:610443
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap...	ORPHA:1692
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple...	OMIM:612387
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:2141
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, H...	OMIM:615636
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ...	ORPHA:3412
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s...	ORPHA:1724
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Pulmonary edema, Atrial fibrillation, Left atrial enlargement, ...	ORPHA:75249
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Plat...	OMIM:616482
Gm1-Gangliosidosis, Type I	Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetali...	OMIM:230500
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Short neck, Hydrocephalus, Flexion contracture, Cleft palate...	ORPHA:1865
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Respiratory failure, Death in infancy	OMIM:618240
Slc35A1-Cdg	Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage	ORPHA:238459
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti...	ORPHA:93352
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Partial agenesis of the corpus callosum, Abnormal lung lobation, Re...	OMIM:270400
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis	OMIM:184840
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Cleft palate, Renal cyst...	OMIM:612284
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Genu valgum, Pl...	OMIM:271650
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Asplenia, Abnormal lung lobation, Hypertrophic cardiomyopathy, Stillbirth...	OMIM:615415
Non-Functioning Paraganglioma	Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur...	ORPHA:94080
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil...	ORPHA:99901
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h...	OMIM:615220
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Dilated cardiomyopathy, Respiratory insufficie...	OMIM:614299
Stickler Syndrome Type 1	Osteoarthritis, Mitral valve prolapse, Joint hyperflexibility, Platyspondyly, Abnormal vertebral ...	ORPHA:90653
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure, Hypertrophic cardiomyopathy	OMIM:619386
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect...	ORPHA:99125
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Ketonuria, Dic...	OMIM:619355
Neu-Laxova Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Spina bifida, Sub...	ORPHA:2671
Radio-Renal Syndrome	Respiratory distress, Short neck, Dyspnea, Abnormality of the elbow, Abnormal form of the vertebr...	ORPHA:3015
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure, Skeletal muscle atrophy, Congenital lary...	ORPHA:2254
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Flexion contracture, Distal amyotrophy, Scoliosis	OMIM:616505
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Cleft palate, High pal...	OMIM:612530
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effusion, Tachypnea...	ORPHA:555874
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Ventricular ...	ORPHA:2970
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Severe short stature, Disproportionate short-limb short stature, Pulmona...	OMIM:224410
Angioosteohypotrophic Syndrome	Prominent superficial veins, Telangiectasia of the skin, Venous malformation, Edema	ORPHA:75508
Tarp Syndrome	Extramedullary hematopoiesis, Optic atrophy, Tetralogy of Fallot, Cleft palate, Horseshoe kidney,...	ORPHA:2886
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Malaria	Respiratory distress	ORPHA:673
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Koolen-De Vries Syndrome	Vertebral fusion, Bicuspid aortic valve, Kyphosis, Hip dislocation, Joint hyperflexibility, Verte...	ORPHA:96169
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis...	ORPHA:210136
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pa...	ORPHA:1120
Meacham Syndrome	Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Neonata...	OMIM:608978
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal...	OMIM:184252
Myhre Syndrome	Vertebral fusion, Ventricular septal defect, Short neck, Joint stiffness, Pericardial effusion, P...	OMIM:139210
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Skeletal muscle atrophy, Lumbar hyperlordosis, Congenital hip dislocation, Cervi...	OMIM:255800
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress	OMIM:620011
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl...	OMIM:313400
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormal lung lobation, Gastroe...	ORPHA:818
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot...	ORPHA:1199
Fg Syndrome Type 1	Progressive flexion contractures, Optic nerve hypoplasia, Abnormal large intestine morphology, Hy...	ORPHA:93932
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Camptodactyly of finger, Hypospadias, Myelomening...	ORPHA:90652
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Pulmonary hypoplasia, Scoliosis, Su...	OMIM:271520
Fryns Syndrome	Ureteral duplication, Short neck, Renal cyst, Atrial septal defect, Agenesis of corpus callosum, ...	OMIM:229850
Shashi-Pena Syndrome	Accelerated skeletal maturation, Kyphosis, Patent ductus arteriosus, Osteoporosis, Limb hypertoni...	OMIM:617190
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Short stature, Short neck, Pulmonary hypoplasia, Webbed neck	ORPHA:1486
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,...	ORPHA:137914
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Arrh...	OMIM:609015
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,...	ORPHA:2348
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Varicose veins, Abnormal venous mor...	ORPHA:79452
Immunodeficiency 54	Intrauterine growth retardation, Respiratory failure, Recurrent respiratory infections, Respirato...	OMIM:609981
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Spinal arteriovenous malformation, Urinary bladder sphincter dysfunctio...	ORPHA:53721
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Dyspnea, Wide anterior fontanel, Rhabdo...	ORPHA:26791
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen...	OMIM:618280
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Microcephaly-Micromelia Syndrome	Short neck, Aqueductal stenosis, Cleft palate, Pulmonary hypoplasia, Neonatal death, Intrauterine...	OMIM:251230
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Intestinal malrotation, Portal hypertension, Situs inversus totalis, Aspleni...	OMIM:208540
Atransferrinemia	Congestive heart failure	OMIM:209300
Diaphanospondylodysostosis	Short neck, Increased nuchal translucency, Disproportionate short-trunk short stature, Cleft pala...	OMIM:608022
Kniest Dysplasia	Respiratory distress, Hip contracture, Enlarged joints, Short neck, Delayed epiphyseal ossificati...	OMIM:156550
Mucopolysaccharidosis, Type Vii	Short neck, Accelerated skeletal maturation, Flexion contracture, Anterior beaking of lumbar vert...	OMIM:253220
Babesiosis	Recurrent pharyngitis, Renal insufficiency, Congestive heart failure, Myocardial infarction	ORPHA:108
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Short neck, High, narrow palate, Congenital contracture...	OMIM:208150
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Patent ductus arteriosus, Respiratory failure, Atrial septal defect, Intr...	OMIM:620327
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Congestive heart failure, Arteriovenous malformation	ORPHA:137608
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre...	OMIM:176670
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff...	ORPHA:91139
Autosomal Recessive Stickler Syndrome	Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility, Genu valgum	ORPHA:250984
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop...	ORPHA:2198
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Abnormal acetabulum morphology, Limb joint contract...	ORPHA:93314
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Respiratory failure, ...	OMIM:607598
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Ulnar deviation of th...	OMIM:177170
Thanatophoric Dysplasia, Type I	Short neck, Hydrocephalus, Pulmonary hypoplasia, Disproportionate short-limb short stature, Neona...	OMIM:187600
Geroderma Osteodysplastica	Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral...	ORPHA:2078
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Congenital diaphrag...	OMIM:614080
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr...	OMIM:231070
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Pulmonary hypoplasia, Cereb...	ORPHA:86822
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Joint hypermobility, Camptodactyly	OMIM:617333
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior...	OMIM:616843
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow...	ORPHA:1900
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Flat acetabular roof, Irregular vertebral endplates, Platyspondyly, Delayed...	OMIM:609616
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Abnormality of the knee, Fractures of the long bones, Delayed skeletal maturation, Os...	ORPHA:319195
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Pulmonary artery stenosi...	OMIM:611812
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Skeletal muscle atrophy, Respiratory insufficiency due to...	OMIM:615512
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema...	OMIM:263200
Meige Disease	Predominantly lower limb lymphedema, Lymphedema, Facial edema, Edema of the dorsum of hands, Peri...	ORPHA:90186
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Atelectasis, Respiratory distress, Death in infancy	OMIM:300219
Thanatophoric Dysplasia, Type Ii	Neonatal death, Platyspondyly, Respiratory insufficiency	OMIM:187601
Kagami-Ogata Syndrome	Ventricular septal defect, Diastasis recti, Splenomegaly, Patent ductus arteriosus, Flexion contr...	OMIM:608149
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes...	OMIM:253010
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,...	OMIM:607326
Renal Agenesis, Bilateral	Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morphology, Pulmonary hy...	ORPHA:1848
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Redundant neck skin, Ventricular septal defect, Hypospadias, Protruding tongue...	OMIM:214100
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Hypophosphatasia, Infantile	Recurrent respiratory infections, Death in infancy, Apnea, Craniosynostosis, Vertebral clefting, ...	OMIM:241500
Thanatophoric Dysplasia Type 1	Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Wide a...	ORPHA:1860
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Platyspondyly, Flexion contracture, Thenar muscle atrophy	ORPHA:157965
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Flexion contracture, Congenital pyloric atresia	OMIM:612138
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Ovoid vertebral bodies, Abnormality of the vertebral endplates, Limited elbow extension, Platyspo...	ORPHA:1856
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Short neck, Abnormal lung loba...	ORPHA:958
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Respiratory distress, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swel...	OMIM:612852
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Bronchitis, Increased pulmonary vascular resistance, Nonproductive co...	ORPHA:60025
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Short stature, Knee fle...	ORPHA:85201
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Cardiomyopathy, Respiratory failure, Stillbirth, Myopathy, Death in childhood, ...	OMIM:614922
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Short ne...	OMIM:300855
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec...	ORPHA:94068
Gaucher Disease, Perinatal Lethal	Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Dysphagia...	OMIM:608013
Meier-Gorlin Syndrome 7	Urethral stricture, Anal stenosis, Ventricular septal defect, Hypospadias, Short stature, Heart b...	OMIM:617063
Anauxetic Dysplasia 1	Joint laxity, Hip contracture, Lumbar hyperlordosis, Short neck, Limited elbow extension, Elbow f...	OMIM:607095
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Cantú Syndrome	Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Accelerated skeletal maturat...	ORPHA:1517
Axial Mesodermal Dysplasia Spectrum	Short stature, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Hydrocepha...	ORPHA:1834
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome...	ORPHA:365
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, X...	ORPHA:220393
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Ost...	OMIM:614856
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h...	OMIM:605676
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ...	ORPHA:93351
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Proteinuria, Recurrent bronchopulmonary infections, Patent duct...	OMIM:617303
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Abnor...	ORPHA:163649
Achondrogenesis Type 2	Short stature, Pulmonary hypoplasia	ORPHA:93296
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Short neck, Cardiomegaly, Delayed skeletal maturation, Delayed epiphyseal ossif...	OMIM:613320
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Thoracic kyphosis, Scoliosis	ORPHA:530983
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	OMIM:211530
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Nephropathy...	ORPHA:324
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdom...	OMIM:612289
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Micropen...	ORPHA:1596
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Abnormal ...	ORPHA:2538
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi...	ORPHA:308552
X-Linked Mandibulofacial Dysostosis	Short stature, Branchial anomaly, High palate, Pulmonic stenosis, Webbed neck, Abnormal mitral va...	ORPHA:1131
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Craniosynostosis, Short...	OMIM:213980
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Gastrointestinal dysmotility, Gastroesophageal reflux, High palate, Vesico...	ORPHA:453499
Schneckenbecken Dysplasia	Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, ...	OMIM:269250
Neu-Laxova Syndrome 1	Cerebellar hypoplasia, Broad neck, Ventricular septal defect, Spina bifida, Short neck, Patent du...	OMIM:256520
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema	ORPHA:70578
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Vascular dilatation, Congestive heart failure, Dilatation ...	ORPHA:90349
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short stature, Short uvula, Renal hypoplasia, Cleft palate, Renal cyst, High palate,...	OMIM:614091
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis	ORPHA:71267
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Hypospadias, Ankle flexion contracture, Pulmonary artery stenosis, Knee flexion c...	ORPHA:435938
Basal Cell Nevus Syndrome 1	Vertebral fusion, Kyphoscoliosis, Spina bifida, Hemivertebrae, Irregular ossification of hand bon...	OMIM:109400
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Proteinuria, Minimal change glomerulonephritis, Congestive heart failu...	ORPHA:1830
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Hypo...	OMIM:601808
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Neonatal respiratory distres...	ORPHA:168549
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Congestive ...	ORPHA:354
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Pulmonary artery ...	ORPHA:3342
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Plat...	OMIM:602557
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Alg9-Cdg	Villous atrophy, Short neck, Abnormal lung lobation, Right ventricular dilatation, Gastroesophage...	ORPHA:79328
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Mucopolysaccharidosis, Type X	Thickened aortic valve cusp, Hyperlordosis, Genu valgum, Platyspondyly, Posterior scalloping of v...	OMIM:619698
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Pleural empyema, Constri...	ORPHA:67
Desbuquois Dysplasia 1	Joint dislocation, Joint laxity, Neonatal respiratory distress, Phalangeal dislocation, Hyperlord...	OMIM:251450
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Diastasis recti, Large placenta, Flexion contracture, Macroglossia, Respiratory fai...	ORPHA:254528
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Facial hypotonia, Ventricular septal defect, Short neck,...	ORPHA:85194
Combined Oxidative Phosphorylation Deficiency 47	Intrauterine growth retardation, Platyspondyly, Short neck	OMIM:618958
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath...	ORPHA:465508
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Skeletal myopa...	ORPHA:746
Congenital Generalized Lipodystrophy	Prominent superficial veins, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia,...	ORPHA:528
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Genu recurvatum, Apnea, Flexion contracture, Hip dislocation, Elbo...	OMIM:617301
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure, Stroke	ORPHA:3077
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Recurrent pharyng...	ORPHA:2331
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon...	OMIM:156500
Stickler Syndrome, Type I	Arthropathy, Joint stiffness, Kyphosis, Osteoarthritis, Mitral valve prolapse, Arthritis, Platysp...	OMIM:108300
Schinzel-Giedion Syndrome	Short neck, Renal cyst, Anteriorly placed anus, Chiari type I malformation, High palate, Hepatobl...	ORPHA:798
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeated pneumothoraces, Post...	ORPHA:536467
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetab...	OMIM:151210
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Ollier Disease	Platyspondyly, Bone pain, Osteolysis, Joint stiffness	ORPHA:296
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis	OMIM:126550
Teebi Hypertelorism Syndrome 1	Natal tooth, Ventricular septal defect, Short stature, Aortic root aneurysm, Pulmonary hypoplasia...	OMIM:145420
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Flat acetabular roof, ...	OMIM:617159
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, Thenar muscle atrophy, Irregul...	OMIM:612350
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Upper limb muscle weakness, Cervical C2/C3 vertebral fusion	ORPHA:370010
Dyggve-Melchior-Clausen Disease	Short neck, Respiratory insufficiency due to muscle weakness, Hypoplasia of the odontoid process,...	ORPHA:239
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Ileal atresia, Patent ductus arteriosus, Megacystis, Pyelonephr...	OMIM:619351
Stuve-Wiedemann Syndrome 1	Short stature, Short neck, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Knee...	OMIM:601559
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Decreased skull ossification, Ventricular septal defect, Short neck	ORPHA:93267
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Abnormal atrioventricular conduction, Precocious atherosclerosis, Su...	ORPHA:280365
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Hypoplasia of the odontoid process, Genu valgum, Platyspondyly, Scoliosis, Delayed...	OMIM:184250
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Short neck, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapulm...	OMIM:200995
Lymphatic Malformation 12	Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren...	OMIM:620014
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenit...	ORPHA:887
Atelosteogenesis Type I	Rhizomelia, Malrotation of colon, Cleft palate, Neonatal short-trunk short stature, Multiple rena...	ORPHA:1190
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Neurodegeneration And Seizures Due To Copper Transport Defect	Thickened nuchal skin fold, Cerebellar atrophy, Tricuspid regurgitation, Cardiomegaly, Pneumothor...	OMIM:620306
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Fused cervical vertebrae, Muscular ventricular septal defect, Spina bifida occulta, Butterfly ver...	OMIM:619227
Holoprosencephaly 2	Median cleft lip and palate, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cle...	OMIM:157170
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar synostosis, Genu v...	OMIM:171480
Microphthalmia, Syndromic 3	Vertebral fusion, Ventricular septal defect, Patent ductus arteriosus, Hemivertebrae, Butterfly v...	OMIM:206900
Atelosteogenesis, Type I	Encephalocele, Short neck, Thoracic platyspondyly, Elbow dislocation, Fused cervical vertebrae, C...	OMIM:108720
Achondrogenesis	Thickened nuchal skin fold, Severe short stature, Short neck, Aplasia/Hypoplasia of the lungs, Um...	ORPHA:932
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Achondrogenesis Type 1B	Thickened nuchal skin fold, Severe short stature, Short neck, Disproportionate short stature, Apl...	ORPHA:93298
Osteogenesis Imperfecta	Flexion contracture, Brain stem compression, Short stature, Rhizomelia, Umbilical hernia, Delayed...	ORPHA:666
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Gast...	ORPHA:2162
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Thoracic hemivertebr...	OMIM:268310
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Flexion contracture, Dehydration, ...	OMIM:616271
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Abnormal ca...	ORPHA:565612
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:601809
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Ventricular septal defect, Intestinal malrotation, Hamartoma of ton...	OMIM:263520
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short neck, Fused cervical vertebrae, Atrial septal defect, Intrauteri...	OMIM:609053
Spondylometaphyseal Dysplasia, Pagnamenta Type	Delayed skeletal maturation, Platyspondyly, Wormian bones, Thoracic kyphosis	OMIM:619638
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Periorbital edema, Congestive heart ...	ORPHA:33226
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Rhabdomyolysis, Conc...	OMIM:610505
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Limb muscle ...	OMIM:619259
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Spontaneous esophageal perfor...	ORPHA:1876
Holoprosencephaly 1	Median cleft lip and palate, Ethmocephaly, Alobar holoprosencephaly, Single ventricle	OMIM:236100
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Recurrent upper re...	OMIM:620296
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Raine Syndrome	Natal tooth, Hydroureter, Short stature, Protruding tongue, Short neck, Hydrocephalus, Cleft pala...	OMIM:259775
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop...	ORPHA:682
Congenital Myopathy 17	Respiratory tract infection, Renal hypoplasia, Cleft palate, Myopathy, Distal arthrogryposis, Hig...	OMIM:618975
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Renal insufficiency, Pericarditis, Epistaxis, Congestive heart failu...	ORPHA:727
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Enlarged joints, Flexion contracture, Premature osteoarthritis, Recurrent p...	OMIM:215150
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Congenital hip dislo...	ORPHA:496641
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulf...	ORPHA:505248
Tetrasomy 9P	Myositis, Short neck, High palate, Micropenis, Patent foramen ovale, Bifid uvula, Dandy-Walker ma...	ORPHA:3310
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f...	ORPHA:73224
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy...	ORPHA:31826
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Transposit...	ORPHA:1780
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:743
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:276621
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis,...	ORPHA:90291
Mucopolysaccharidosis Type 4	Joint dislocation, Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Delayed ...	ORPHA:582
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion contracture, Hypoplas...	OMIM:620369
Icf Syndrome	Communicating hydrocephalus, Recurrent respiratory infections, Short stature, Abnormality of neut...	ORPHA:2268
Proteus Syndrome	Venous malformation	OMIM:176920
Scorpion Envenomation	Bundle branch block, Tachycardia, Ketonuria, Edema, Cardiac conduction abnormality, Myocarditis, ...	ORPHA:466677
Restrictive Dermopathy	Natal tooth, Ureteral duplication, Multiple joint contractures, Hypospadias, Dextrocardia, Campto...	ORPHA:1662
Erdheim-Chester Disease	Renal insufficiency, Abnormal pericardium morphology, Dysuria, Congestive heart failure, Abnormal...	ORPHA:35687
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Intrauterine growth re...	ORPHA:525731
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy, Respiratory failure	ORPHA:363400
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Aplasia/Hypoplasia of ...	ORPHA:1046
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Arnold-Chiari Malformation Type I	Stiff neck, Abnormality of the musculature of the lower limbs, Myelopathy, Fused cervical vertebr...	ORPHA:268882
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Pear-s...	OMIM:602111
Alstrom Syndrome	Renal insufficiency, Congestive heart failure, Dilated cardiomyopathy, Recurrent pneumonia, Tubul...	OMIM:203800
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular...	ORPHA:70591
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ovoid vertebral bodies, Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly	OMIM:608940
Al Amyloidosis	Howell-Jolly bodies, Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Nephrotic synd...	ORPHA:85443
Achondrogenesis Type 1A	Thickened nuchal skin fold, Severe short stature, Short neck, Aplasia/Hypoplasia of the lungs, Um...	ORPHA:93299
Dysosteosclerosis	Increased bone mineral density, Ventricular septal defect, Recurrent fractures, Hypoplastic verte...	ORPHA:1782
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Wide anterior fontanel, Platyspondyly	OMIM:601356
Craniosynostosis, Herrmann-Opitz Type	Short stature, Abnormality of the urethra, Cleft palate, Aplasia/Hypoplasia of the lungs, Webbed ...	ORPHA:2145
Colchicine Poisoning	Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Oliguria, Dehydration, H...	ORPHA:31824
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Kyphoscoliosis, Hip dislocation, Advanced ossification of carpal bones,...	OMIM:615349
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a...	ORPHA:1600
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Respiratory failure, Abnormality of masticatory muscle	ORPHA:98755
Chops Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiratio...	OMIM:616368
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Myoca...	ORPHA:902
Snakebite Envenomation	Epistaxis, Rhabdomyolysis, Respiratory failure, Muscle fiber necrosis, Respiratory paralysis	ORPHA:449285
Platyspondylic Dysplasia, Torrance Type	Disproportionate short-limb short stature, Pulmonary hypoplasia, Cleft palate	ORPHA:85166
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Abnormal cardiac se...	ORPHA:3320
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood	OMIM:617186
Anauxetic Dysplasia 3	Recurrent respiratory infections, Thoracolumbar kyphoscoliosis, Wide anterior fontanel, Genu valg...	OMIM:618853
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Death in infancy, Congenital hip dislocation, Ventricular septal defect, Campto...	ORPHA:373
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Hepatoblastoma, Portal hypertension, Oliguria, Hepatosplenomegaly, Re...	ORPHA:731
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Wormian bones, Joint hypermobility	OMIM:619131
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of...	ORPHA:2635
Kaposi Sarcoma	Venous insufficiency, Abnormal lung morphology, Lymphedema	ORPHA:33276
Thoracic Outlet Syndrome	Varicose veins, Edema	ORPHA:97330
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Mucopolysaccharidosis, Type Ii	Abnormal heart valve morphology, Heparan sulfate excretion in urine, Congestive heart failure, Re...	OMIM:309900
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Thoracic scoliosis, Respiratory distress, Generalized joint laxity, Rec...	OMIM:613848
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Postnatal growth retardation, Respiratory infections in early l...	ORPHA:96179
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Multiple prenatal fractures, Absent ossification of calvaria, Respiratory in...	OMIM:166210
Achondroplasia	Respiratory distress, Death in infancy, Lumbar hyperlordosis, Limited hip extension, Generalized ...	OMIM:100800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr...	OMIM:220110
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Elb...	OMIM:608836
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis...	OMIM:230600
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Scapular winging, Lumbar hyperlordosis, Lumbar scoliosis	OMIM:617796
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Pulmona...	OMIM:231680
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral...	OMIM:123700
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Pyloric stenosis, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper l...	OMIM:616924
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Flat acetabular roof, Platyspondyly, Limited elbow ...	OMIM:608728
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	ORPHA:209905
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Short neck, Platyspondyly, Bronchospasm	OMIM:612813
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Congestive heart failure	ORPHA:90037
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Hypoplastic vertebral bodies, Platyspondyly, Death in childhood, ...	OMIM:618641
Renal Agenesis	Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ...	ORPHA:411709
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Cervical hemivertebrae, Bicuspid aortic valve, Facial palsy, Spina bifida, Sh...	ORPHA:508498
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure	OMIM:620166
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral arteries, Aortopulmo...	OMIM:620025
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Short neck, Complete atrioventricular ...	OMIM:617925
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit...	ORPHA:234
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Hypospadias, Congestive heart failure, Edema	ORPHA:2505
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislo...	OMIM:616507
Czech Dysplasia	Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ...	OMIM:609162
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Intestinal malrotation, Facial palsy, Unilateral renal agenesi...	OMIM:113650
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short neck, Osteoarthritis,...	ORPHA:1427
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Multicystic kidney dysplasia, Hydrocephalus, Abnormal lung lobation, Optic...	ORPHA:3301
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Osteosclerosis of ribs, Abnor...	ORPHA:174
Duane Retraction Syndrome	Skeletal muscle atrophy, Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies,...	ORPHA:233
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Myelopathy, Functional ab...	ORPHA:79093
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Congestive heart failure, Nocturia...	ORPHA:85450
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:607625
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology, Skeletal muscle atrophy	ORPHA:803
Frontometaphyseal Dysplasia 2	Hip contracture, Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow ...	OMIM:617137
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abnormal heart valve morpho...	ORPHA:536471
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Unilateral renal agenesis, Abnormal stomach morphology, Acute...	ORPHA:281090
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dyspnea, Hypox...	ORPHA:199241
Tetraploidy	Cleft palate, Aplasia/Hypoplasia of the lungs, Chiari malformation, Intrauterine growth retardati...	ORPHA:3305
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Abnormal lung...	ORPHA:141127
Arima Syndrome	Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Nephronophthisis,...	OMIM:243910
Mirage Syndrome	Hypospadias, Short stature, Thrombocytopenia, Hydrocephalus, Esophageal stricture, Patent ductus ...	OMIM:617053
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Short neck, Flexion contracture, Abnormal aortic arch morphology, Atrial sep...	ORPHA:96334
Myopathy, Centronuclear, X-Linked	Elevated hepatic transaminase, Arachnodactyly, Facial palsy, Pyloric stenosis, Hydrocephalus, Fle...	OMIM:310400
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno...	ORPHA:423
Restrictive Dermopathy 1	Natal tooth, Ureteral duplication, Limb joint contracture, Hypospadias, Patent ductus arteriosus,...	OMIM:275210
Renal Hypodysplasia/Aplasia 1	Hypertension, Proteinuria, Pulmonary hypoplasia	OMIM:191830
Desbuquois Dysplasia 2	Joint laxity, Neonatal respiratory distress, Lumbar hyperlordosis, Short neck, Radial head sublux...	OMIM:615777
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thor...	ORPHA:457395
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Neurogenic bladder, Secundum atrial septal defect, Congestive heart fail...	OMIM:608779
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Kbg Syndrome	Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis	OMIM:148050
Duane-Radial Ray Syndrome	Upper limb muscle hypoplasia, Ventricular septal defect, Facial palsy, Fused cervical vertebrae, ...	OMIM:607323
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Hypospadias, Myelomeningocele, Hydrocephalus,...	OMIM:219000
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Martsolf Syndrome 1	Recurrent respiratory infections, Cardiac arrest, Congestive heart failure, Cardiomyopathy, Micro...	OMIM:212720
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Accelerated skeletal maturati...	OMIM:245600
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Palpebral edema, Diastasis recti, Cardiomegaly, Myelopathy, Congestive hear...	OMIM:252500
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
Achondrogenesis, Type Ia	Short neck, Protruding tongue, Increased nuchal translucency, Disproportionate short-trunk short ...	OMIM:200600
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Branchial fistula, Ventricular septal def...	ORPHA:261330
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra...	OMIM:618775
Greenberg Dysplasia	Rhizomelia, Large placenta, Increased nuchal translucency, Abnormal lung lobation, Hepatosplenome...	OMIM:215140
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep...	OMIM:265380
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Anasarca	OMIM:260450
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Aplasia/Hypoplasia of the lungs, Splenomegaly, Short stature	ORPHA:2204
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Lowry-Wood Syndrome	Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Platyspondyly, Patellar dislocat...	ORPHA:1824
Seckel Syndrome 10	Ventricular hypertrophy, Congestive heart failure, Hypertension, Glycosuria, Abdominal aortic ane...	OMIM:617253
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:29072
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Thymic Carcinoma	Abnormal vena cava morphology, Palpebral edema, Edema	ORPHA:99868
Smith-Mccort Dysplasia 2	Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, F...	OMIM:615222
Dpagt1-Cdg	Prolonged QT interval, Abnormal cerebellum morphology, Flexion contracture, Optic atrophy, Intrac...	ORPHA:86309
Riddle Syndrome	Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo...	ORPHA:420741
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Renal cyst, Horseshoe kidney, Heart murmur, Abnormal vena cava morphol...	ORPHA:166035
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Kyphoscoliosis, Genu valgum, Platyspondyly, Abnormality of the vertebral...	ORPHA:93316
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Hypospadias	ORPHA:1548
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hyperlordosis, Hypoplasia of the odontoid process, Irregular carpal bones, Osteoporosis, Hip disl...	OMIM:226980
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Severe short stature, Camptodactyly of finger, High, narrow pal...	ORPHA:2753
Atelosteogenesis Type Ii	Bilateral cleft palate, Rhizomelia, Short neck, Elbow flexion contracture, Cleft palate, Rhizomel...	ORPHA:56304
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Cleft palate, Ve...	ORPHA:107
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Abnormal heart valve morphology, Congestive heart failure, Abno...	ORPHA:579
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Platyspondyly, Death in infancy	ORPHA:163966
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Increased inte...	OMIM:607944
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Platyspondyly, Decreased skull ossification	OMIM:300863
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,...	ORPHA:210122
Robinow Syndrome	Fused thoracic vertebrae, Ventricular septal defect, Kyphoscoliosis, Hemivertebrae, Abnormal hear...	ORPHA:97360
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in...	OMIM:613845
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2...	OMIM:612394
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Short neck, Wrist flexion contracture, Death in infancy, Abnormal...	ORPHA:800
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio...	OMIM:616294
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
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, Lymphedema	OMIM:613089
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Pulmonary hypoplasia, Polycystic kidney...	OMIM:236700
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Diastasis recti, Spina bifida, Congenita...	ORPHA:2092
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Wide anteri...	OMIM:610915
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Aicardi Syndrome	Block vertebrae, Spina bifida, Recurrent pneumonia, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:304050
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:3226
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Anorectal anomaly...	ORPHA:49
Fraser Syndrome	Encephalocele, Anal stenosis, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Mye...	ORPHA:2052
Dietary Iron Overload Disease	Congestive heart failure, Abnormal heart morphology	ORPHA:139507
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy...	OMIM:615895
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Anterior scalloping of vertebral bodies, Delayed epiphyseal ossification, Cuboid-shap...	OMIM:611717
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Pulmonary Hypertension, Primary, 1	Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar...	OMIM:178600
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Delayed skeletal maturation, Tachypnea, Rickets, Abnormal pulmonary int...	OMIM:613658
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Poliomyelitis	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Stiff neck, Hypoplas...	ORPHA:2912
Listeriosis	Back pain, Respiratory distress, Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage,...	ORPHA:533
Geleophysic Dysplasia 3	Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Delayed skeletal maturation, ...	OMIM:617809
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Pneumothorax, Micropenis, Right bundle branch ...	OMIM:617403
Autosomal Dominant Spastic Paraplegia Type 10	Distal lower limb amyotrophy, Dupuytren contracture, Spastic/hyperactive bladder, Upper limb amyo...	ORPHA:100991
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli...	ORPHA:3260
Oculoauriculovertebral Spectrum With Radial Defects	Short stature, Distal urethral duplication, Cleft palate, Aplasia/Hypoplasia of the lungs, EMG: m...	ORPHA:2549
Lethal Kniest-Like Dysplasia	Short neck, Wide anterior fontanel, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platys...	ORPHA:2347
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Recurrent fractures, Decreased calvarial ossification, Platyspondyly, Wormian bones, ...	OMIM:616229
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent...	ORPHA:90348
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ...	OMIM:300232
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Respiratory failure, Camptodactyly of toe, Intrauterine growth reta...	ORPHA:158687
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fing...	ORPHA:435638
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic...	OMIM:223800
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Delayed skeletal maturat...	OMIM:271510
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress	OMIM:608799
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy, Respiratory failure, Pneumothorax	ORPHA:445038
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f...	ORPHA:558
Schimke Immunoosseous Dysplasia	Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Dyspnea, Pulmonary arterial...	OMIM:242900
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Edema, Polyhydramni...	OMIM:265300
Renal Tubular Dysgenesis	Anuria, Pulmonary hypoplasia, Hypotension	OMIM:267430
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Proteinuria, Patent ductus arteriosus, Varicose veins, Tubul...	ORPHA:33001
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Hypoplasia of f...	OMIM:164210
Otopalatodigital Syndrome, Type Ii	Atrial septal defect, Congenital hip dislocation, Elbow contracture, Kyphoscoliosis, Spina bifida...	OMIM:304120
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Short neck, Patent ductus arteriosus, Flexion contracture, Elb...	OMIM:300868
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Congestive heart failure, Recurrent upper respiratory tra...	ORPHA:391487
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Delayed skeletal maturation, P...	OMIM:616723
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo...	ORPHA:352665
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Death in infancy, Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones, Cervical i...	OMIM:617425
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cl...	OMIM:273395
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Tachycardia, Congestive heart failure	ORPHA:90033
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized...	ORPHA:98908
Hall-Riggs Syndrome	Delayed skeletal maturation, Platyspondyly, Scoliosis, Joint stiffness	ORPHA:2107
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosi...	OMIM:259770
Fibrochondrogenesis 1	Short neck, Wide anterior fontanel, Widely patent coronal suture, Platyspondyly, Stillbirth, Camp...	OMIM:228520
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Elbow flexion contracture, Abnormality of the ureter, Narrow pal...	OMIM:200980
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, U...	ORPHA:261337
Blomstrand Lethal Chondrodysplasia	Natal tooth, Rhizomelia, Protruding tongue, Coarctation of aorta, Pulmonary hypoplasia, Neonatal ...	ORPHA:50945
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Minimal change glomerulonephritis, Respiratory tract infection, Facial ed...	ORPHA:567546
Jeune Syndrome	Renal insufficiency, Short stature, Aplasia/Hypoplasia of the lungs, Nephronophthisis, Nephropathy	ORPHA:474
Neurocardiofaciodigital Syndrome	Syndactyly, Optic disc pallor, Double inlet left ventricle, Polydactyly, High palate, Atrial sept...	OMIM:619869
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Postnatal growth retardation, Pyloric stenosis, Contracture of the dist...	ORPHA:83617
Livedoid Vasculopathy	Abnormal capillary morphology, Telangiectasia of the skin, Venous insufficiency, Pedal edema, Var...	ORPHA:542643
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short stature	OMIM:609166
Sillence Syndrome	Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp...	ORPHA:3168
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect, Tetralogy of Fallot	ORPHA:959
Nocardiosis	Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pr...	ORPHA:31204
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Patent ductus arteriosus, Hypopnea, Respiratory failure, Neonatal death,...	OMIM:617248
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Atrial septal defect, Ventricular septal defect, Shoulder muscle hypoplasia, Sp...	OMIM:274000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ...	OMIM:618278
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Accelerated skeletal maturation, Thoracic platyspondyly...	OMIM:619636
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur...	OMIM:166220
Trisomy 20P	Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodie...	ORPHA:261318
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula...	OMIM:224300
Periventricular Nodular Heterotopia	Pyloric stenosis, Abnormal heart valve morphology, Gastroesophageal reflux	ORPHA:98892
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Abnormal lung lobation, Narrow palate, Aplasia/Hypoplasia of the...	ORPHA:2063
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure	ORPHA:75564
Bent Bone Dysplasia Syndrome 2	Osteopenia, Atrial septal defect, Short neck, Coronal cleft vertebrae, Platyspondyly, Decreased c...	OMIM:620076
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow...	OMIM:602782
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Decreased muscle mass, Ventricular septal defect, Kyphosis, Dela...	OMIM:194190
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platy...	OMIM:618019
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Increased variability in ...	OMIM:619461
Fibrochondrogenesis 2	Platyspondyly	OMIM:614524
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Asthma,...	ORPHA:444077
Apert Syndrome	Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Respiratory insufficiency	ORPHA:87
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	4-hydroxyphenylacetic aciduria, Polyhydramnios, Congestive heart failure, 4-Hydroxyphenylpyruvic ...	OMIM:617156
Costello Syndrome	Hyperextensibility of the finger joints, Atrial septal defect, Ventricular septal defect, Limited...	OMIM:218040
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Hyperextensible hand joints, Camptodactyly	OMIM:227330
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein...	ORPHA:71273
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Cardiomyopathy, Platyspondyly, Macroglossia, Beaking of vertebral b...	ORPHA:79255
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont...	OMIM:608328
Marfan Syndrome	Pulmonary artery dilatation, Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation...	OMIM:154700
Infantile Krabbe Disease	Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness, Respiratory distress	ORPHA:206436
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Proteinuria, Short stature, Chronic kidney...	OMIM:208500
Griscelli Syndrome	Encephalocele, Hepatomegaly, Splenomegaly, Jaundice, Hydrocephalus, Pyloric stenosis, Hepatitis	ORPHA:381
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections	OMIM:619383
Boomerang Dysplasia	Aplasia/Hypoplasia of the lungs, Severe short-limb dwarfism, Aplasia/Hypoplasia of the abdominal ...	ORPHA:1263
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx	ORPHA:280210
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm...	ORPHA:3097
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Facial palsy, Respiratory failure, Stillbirth, Osteopetrosis, Hip...	OMIM:259720
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Respiratory failure, Muscular dystrophy	ORPHA:88618
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Multicystic kidney dysplasia, Ventricu...	OMIM:606170
Vici Syndrome	Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath...	OMIM:242840
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Recurrent upper ...	ORPHA:508542
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose...	OMIM:125310
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Irregular vertebral endplates...	OMIM:271700
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Generalized Pustular Psoriasis	Congestive heart failure, Renal insufficiency, Pedal edema	ORPHA:247353
Cardiospondylocarpofacial Syndrome	Joint laxity, Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Congenital diap...	OMIM:157800
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira...	ORPHA:79138
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Apert Syndrome	Overriding aorta, Ventricular septal defect, Sagittal craniosynostosis, Limited elbow movement, C...	OMIM:101200
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Renal hypoplasia, Coarct...	OMIM:105650
Branchiootic Syndrome	Branchial fistula, Facial palsy, Cleft palate	ORPHA:52429
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
8Q24.3 Microdeletion Syndrome	Branchial cyst, Short neck, Bilateral renal hypoplasia, Abnormal lung lobation, Gastroesophageal ...	ORPHA:508488
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di...	OMIM:618476
Spondylometaphyseal Dysplasia, Sedaghatian Type	Accelerated skeletal maturation, Myocarditis, Delayed skeletal maturation, Cardiorespiratory arre...	ORPHA:93317
Saul-Wilson Syndrome	Hypoplasia of the odontoid process, Wide anterior fontanel, Madelung deformity, Irregular vertebr...	OMIM:618150
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Patent ductus arteriosu...	ORPHA:163956
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Metachromatic Leukodystrophy	Abnormal stomach morphology, Decreased nerve conduction velocity, Abnormal gallbladder morphology...	ORPHA:512
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia, Short stature	OMIM:615503
Malignant Atrophic Papulosis	Abnormal myocardium morphology, Pleural effusion, Abnormal pericardium morphology, Respiratory fa...	ORPHA:679
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Skeletal muscle atrophy, Rh...	ORPHA:647
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Moebius Syndrome	Respiratory distress	OMIM:157900
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ...	ORPHA:779
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent respiratory infections, Prominent superficial veins, Cor triatriatum, Secundum atrial s...	OMIM:612541
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency	OMIM:618329
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,...	ORPHA:2636
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, Abnormal cardiac septum morphology	ORPHA:1027
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins...	ORPHA:590
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Scoliosis	ORPHA:50
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins...	ORPHA:98914
Primary Sclerosing Cholangitis	Renal insufficiency, Spider hemangioma, Portal hypertension, Congestive heart failure, Dilated su...	ORPHA:171
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur...	ORPHA:340
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Concentric hypertroph...	OMIM:252010
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Dandy-Walker malformation, Urethrovaginal fistula, Esophageal atresia, Renal...	ORPHA:93271
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Atrial septal defect, Lumbar hyperlordosis, Unilateral lung agenesis, Kyphoscoliosis, Sagittal cr...	ORPHA:500150
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Skeletal muscle atrophy, Short stature, Angina pectoris, Abnormal large int...	ORPHA:109
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Cleft palate, Abnormal heart mor...	ORPHA:261197
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:3346
Opsismodysplasia	Recurrent respiratory infections, Short neck, Hypoplasia of the odontoid process, Flat acetabular...	OMIM:258480
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure, Osteopetrosis	ORPHA:3240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy	OMIM:616538
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:565
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Palpebral edema, Unilateral renal agenesis, Cardiac myxoma, Congestive heart...	OMIM:181270
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Lymphoid nodular hyperplasia, Penile freckling	ORPHA:210548
H Syndrome	Recurrent pharyngitis, Abnormal cardiovascular system physiology, Bronchiectasis, Upper eyelid ed...	ORPHA:168569
Geleophysic Dysplasia 1	Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve stenosis, Mit...	OMIM:231050
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Dyspnea, Dela...	ORPHA:2554
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Aplasia/Hypoplasia of the lungs, Webbed neck, Int...	ORPHA:2167
Abetalipoproteinemia	Osteopenia, Kyphoscoliosis, Cardiomegaly, Myopathy, Respiratory failure, Distal lower limb muscle...	ORPHA:14
Spondylometaphyseal Dysplasia, Algerian Type	Lumbar hyperlordosis, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bone hypoplasia	OMIM:184253
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Enlarged kidney, Abnormal venous morphology, Abnormal cerebral vascul...	ORPHA:276280
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature, Cleft palate	ORPHA:50815
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, Arrhythmia, Hypermagnesi...	ORPHA:428
Atypical Werner Syndrome	Skeletal muscle atrophy, Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebr...	ORPHA:79474
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia	OMIM:607143
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Centrally nucleated skeletal muscle fibers, Splenome...	OMIM:613327
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Atrial septal defect, Bicuspid aortic valve, Ovoid vertebral bodies, Kyphoscoliosis...	OMIM:271640
Zttk Syndrome	Aortic regurgitation, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral r...	OMIM:617140
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Pulmonary edema	ORPHA:79330
Clapo Syndrome	Varicose veins, Venous malformation, Lymphedema	ORPHA:168984
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Facial hypotonia, Pneumonia, Craniosynostosis, Short neck, Joint stiffn...	ORPHA:309282
Opitz-Kaveggia Syndrome	Syndactyly, Anal stenosis, Multiple joint contractures, Broad hallux, Intestinal malrotation, Pyl...	OMIM:305450
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia	ORPHA:2617
Incontinentia Pigmenti	Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage...	ORPHA:464
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Respiratory fa...	ORPHA:125
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit...	ORPHA:3138
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology, Vesicoureteral reflux, A...	ORPHA:567
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp...	OMIM:225400
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Recurrent respiratory infections, Natal tooth, Short stature, Facial palsy, Aplas...	OMIM:620186
Jacobsen Syndrome	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Pyloric stenos...	OMIM:147791
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Aceruloplasminemia	Congestive heart failure, Torticollis	ORPHA:48818
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea	ORPHA:36234
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Myocardial infarction, Intestinal perforation, Thrombocytopenia, Rectal ...	ORPHA:90038
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Facial hypotonia, Ventricular septal defect, Short neck, Hip dislocation, Cervical...	OMIM:613458
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Short neck, Flexion contracture, Renal cyst, Anteriorly placed a...	OMIM:601803
Ulbright-Hodes Syndrome	Respiratory distress, Short neck, Humeroradial synostosis, Ovoid thoracolumbar vertebrae, Pneumot...	ORPHA:3404
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Recurrent respiratory infections, Dilatation of renal calices, Branchial anomaly, Gastroesophagea...	ORPHA:466950
Microphthalmia, Syndromic 1	Hydroureter, Aganglionic megacolon, Bicuspid aortic valve, Hypospadias, High, narrow palate, Rect...	OMIM:309800
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Varicose veins, Torticollis, Nephritis, Pyelonephritis	OMIM:314300
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Cocaine Intoxication	Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach...	ORPHA:90068
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Rodrigues Blindness	Nasal flaring	OMIM:268320
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart v...	ORPHA:289
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Decreased calvarial ossification, Platyspondyly, Vertebral wedging	OMIM:617866
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Spondyloenchondrodysplasia	Pneumonia, Kyphosis, Arthritis, Platyspondyly, Juvenile rheumatoid arthritis, Lower limb pain	ORPHA:1855
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Patent ductus arteriosus, Pulmonary hypoplasia, Persistent cloaca	ORPHA:1112
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Sacral dimple, Congenital diaphragmatic hernia, Dyspnea, Dilated cardiomyop...	ORPHA:2556
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed...	OMIM:619475
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Liver abscess, Malabsorption, Splenomegaly, Pylor...	ORPHA:379
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Restrictive v...	ORPHA:537
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation	OMIM:618343
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Recurrent res...	ORPHA:2308
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Fraser Syndrome 2	Respiratory failure, Short neck	OMIM:617666
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis	ORPHA:319213
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ir...	ORPHA:79139
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Q Fever	Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Cough, Pleural effusion	ORPHA:781
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, High p...	OMIM:619472
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Asthma, Platyspondyly, Scoliosis, Large knee	OMIM:619269
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific...	OMIM:182250
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Hypoplasia of penis, Patent ductus arteriosus, Tracheoesophagea...	ORPHA:861
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Venous malformation, Spinal dysraphism	OMIM:612918
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Abnormal heart valve morphology, Hypospadias, Congenital diaphr...	ORPHA:280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Delayed epiphyseal ossification, Flexion contracture, Knee flexion contracture, Death...	OMIM:210710
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart failure, Recurre...	OMIM:256040
Marden-Walker Syndrome	Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Dext...	ORPHA:2461
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Dominant Beta-Thalassemia	High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hypoplasia of the muscu...	ORPHA:231226
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Sponastrime Dysplasia	Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Avascular necrosis of the capital femoral epi...	ORPHA:93357
Verloove Vanhorick-Brubakk Syndrome	Aplasia/Hypoplasia of the lungs, Cleft palate	ORPHA:3429
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Osteoporosis, Dilated cardiomyopathy, Str...	ORPHA:79404
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Classical-Like Ehlers-Danlos Syndrome Type 2	Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V...	ORPHA:536532
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Respiratory insuffic...	ORPHA:273
Varicose Veins	Varicose veins	OMIM:192200
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections	OMIM:300968
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
Thymic Neuroendocrine Tumor	Abnormal vena cava morphology, Prominent veins on trunk, Calcium nephrolithiasis	ORPHA:97289
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ...	OMIM:174900
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Stickler Syndrome	Joint dislocation, Recurrent respiratory infections, Skeletal muscle atrophy, Protrusio acetabuli...	ORPHA:828
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Pedal edema, Mitral valve prolapse, Renal cyst, Macroglossia, Varicose...	OMIM:617107
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Aspartylglucosaminuria	Joint laxity, Recurrent respiratory infections, Kyphosis, Delayed skeletal maturation, Macrogloss...	OMIM:208400
Liposarcoma	Varicose veins	ORPHA:69078
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Proteus-Like Syndrome	Venous insufficiency, Bronchogenic cyst	ORPHA:2969
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Pneumonia, Asthma, Recurrent pneumonia, Platyspondyly	OMIM:102700
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Mitral valv...	OMIM:175050
Spondyloocular Syndrome	Osteopenia, Mitral valve prolapse, Platyspondyly, Atrial septal defect, Vertebral compression fra...	OMIM:605822
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Hypoplasia of the odontoid process, Wide anterior fontanel, Atlantoaxial instability,...	OMIM:271665
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Hypospadias, Facial palsy, Short neck, Malrotation of colon, Pylor...	OMIM:113620
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Ventricular hypertrophy, Osteomalacia, Cardiomegal...	ORPHA:51608
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Sepsis In Premature Infants	Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance	ORPHA:90051
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Beta-Thalassemia Major	High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hypoplasia of the muscu...	ORPHA:231214
Friedreich Ataxia 2	Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge...	OMIM:601992
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Osteomalacia, Recurrent fractures, Joint stif...	ORPHA:534
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Kyphosis, Osteopor...	ORPHA:198
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventricle morphology, Mit...	ORPHA:500095
Beta-Thalassemia Intermedia	High-output congestive heart failure, Proximal tubulopathy, Pulmonary arterial hypertension	ORPHA:231222
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ovoid vertebral bodies, Scoliosis	ORPHA:85167
Mgat2-Cdg	Respiratory distress, Recurrent upper and lower respiratory tract infections	ORPHA:79329
Occipital Horn Syndrome	Joint laxity, Persistent open anterior fontanelle, Kyphosis, Capitate-hamate fusion, Osteoporosis...	OMIM:304150
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea	ORPHA:17
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Myhre Syndrome	Joint stiffness, Skeletal muscle hypertrophy, Platyspondyly, Abnormal cardiac septum morphology, ...	ORPHA:2588
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Muir-Torre Syndrome	Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm	ORPHA:587
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Respiratory failure, Pulm...	ORPHA:805
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea	ORPHA:2131
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections	ORPHA:177907
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, Irregular ...	OMIM:610442
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress	OMIM:123790
Osteoglophonic Dysplasia	Osteopenia, Respiratory distress, Camptodactyly of finger, Craniosynostosis, Short neck, Increase...	OMIM:166250
Niemann-Pick Disease Type C	Abnormal lung morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Respiratory insuf...	ORPHA:646
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p...	OMIM:614748
African Trypanosomiasis	Abnormal EKG, Pericarditis, Renal insufficiency, Urinary incontinence, Myocarditis, Myelopathy, C...	ORPHA:3385
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf...	OMIM:114290
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility, Flat acetabular roof, Pterygium	OMIM:211350
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Adnp Syndrome	Respiratory distress, Aspiration, Recurrent upper respiratory tract infections	ORPHA:404448
Coccidioidomycosis	Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Vascular Ehlers-Danlos Syndrome	Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias, Varicose veins, Ascending tub...	ORPHA:286
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Pyloric stenosis, Dextrocardia	ORPHA:1571
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v...	OMIM:309000
Marshall Syndrome	Platyspondyly, Knee osteoarthritis	OMIM:154780
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Enlargement of the ankles, Multiple joint contractures, Short neck, Secundu...	ORPHA:99646
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism	ORPHA:79282
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Abnorma...	ORPHA:2072
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Genu varum, Ant...	OMIM:300106
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections	OMIM:615273
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ...	OMIM:616268
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Cystocele, Ascending ...	ORPHA:285
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress	OMIM:256810
Craniotubular Dysplasia, Ikegawa Type	Increased intervertebral space, Platyspondyly, Ventricular septal defect, Sclerosis of skull base	OMIM:619727
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Bifid uvula, Cerebellar dysplasia	OMIM:601374
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Myocarditis, Delayed epiphyseal ossification, Flat acetabular roof, Platyspondyly, At...	OMIM:250220
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t...	OMIM:161700
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Witteveen-Kolk Syndrome	Branchial fistula, Hypospadias, Short stature, Congenital diaphragmatic hernia, Phimosis, High, n...	OMIM:613406
Carney Complex	Cardiac myxoma, Congestive heart failure, Hypertension, Dilatation of the cerebral artery, Stroke	ORPHA:1359
Microphthalmia With Limb Anomalies	Venous insufficiency, Camptodactyly of 2nd-5th fingers, Horseshoe kidney	ORPHA:1106
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Short...	OMIM:164280
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Rubinstein-Taybi Syndrome 1	Respiratory tract infection, Recurrent upper respiratory tract infections, Respiratory distress	OMIM:180849
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary window, H...	ORPHA:97214
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion	OMIM:211380
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring	ORPHA:466943
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Knobloch Syndrome 2	Encephalocele, Recurrent respiratory infections, Pyloric stenosis, Abnormal pulmonary interstitia...	OMIM:618458
Leptospirosis	Respiratory distress, Pleural effusion, Cough, Pulmonary hemorrhage	ORPHA:509
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Kyphosis, Delayed skeletal maturation,...	ORPHA:2273
Epidermolysis Bullosa Simplex With Pyloric Atresia	Flexion contracture, Muscular dystrophy, Congenital pyloric atresia	ORPHA:158684
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Short middle phalanx of the 2nd finger, Shor...	ORPHA:391641
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Pulmonary artery stenosis	ORPHA:2255
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Micropenis, Portal hypertension, Dil...	ORPHA:64
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Plague	Acute infectious pneumonia, Respiratory distress	ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Recurrent upper and lower respiratory tract infections	ORPHA:480880
Pmm2-Cdg	Osteopenia, Joint laxity, Respiratory distress, Multiple joint contractures, Pericarditis, Kyphos...	ORPHA:79318
Norrie Disease	Venous insufficiency	ORPHA:649
Neuroblastoma	Elevated urinary catecholamine level	ORPHA:635

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 Mycn

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 Mycn.

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

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MGI Allele	Allele Type	Produced
Mycn^{tm456715(L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mycn^{tm1(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Mycn^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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