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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 (1332 diseases)

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

Disease	Matching phenotypes	Source
Neuroblastoma	Respiratory distress	ORPHA:635
Feingold Syndrome 1	Accessory spleen, Tricuspid stenosis, Annular pancreas, Polysplenia, Short toe, Short thumb, Shor...	OMIM:164280
Feingold Syndrome Type 1	Toe syndactyly, Tricuspid stenosis, Short thumb, Abnormal heart morphology, Short middle phalanx ...	ORPHA:391641

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	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, De...	OMIM:600561
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I...	OMIM:611880
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Death in infancy	OMIM:254120
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis	OMIM:616566
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ...	OMIM:613255
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiomyopathy, Dilated, 1B	Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im...	OMIM:600884
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Death in infancy, Vertebral segmentation defect, Bicuspid aortic valve, D...	OMIM:618845
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d...	OMIM:277300
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu...	OMIM:253300
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Cardiomyopathy, Respiratory insufficiency, Fusion of midcervical facet joints, L...	OMIM:606842
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ...	OMIM:611369
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Respiratory insufficiency, Sclerosis of skull base, Knee flexion contracture, Hip ...	OMIM:313420
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio...	OMIM:618469
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Muscular Dystrophy, Congenital, 1B	Spinal rigidity, Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakn...	OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g...	OMIM:606612
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Ascites, Tricuspid regur...	ORPHA:615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo...	OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Ullrich Congenital Muscular Dystrophy	Spinal rigidity, Increased variability in muscle fiber diameter, Hip dislocation, Increased endom...	ORPHA:75840
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he...	ORPHA:3400
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea	OMIM:267450
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Right Atrial Isomerism	Total anomalous pulmonary venous return, Pulmonary artery atresia, Polysplenia, Abnormal lung lob...	OMIM:208530
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Hyperekplexia 4	Umbilical hernia, Kyphoscoliosis, Distal arthrogryposis, Camptodactyly, Flexion contracture, Resp...	OMIM:618011
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect...	OMIM:306955
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Respiratory insufficiency, Death in childhood, Spinal muscular atrophy, ...	OMIM:616081
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae	ORPHA:1436
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Pulmonary Blastoma	Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma	ORPHA:64741
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i...	OMIM:619773
Symphalangism Of Toes	Synostosis involving bones of the toes	OMIM:185600
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Intervertebral space narrowi...	OMIM:609223
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Hip dislocation, Neuropathic spinal arthropathy, Respiratory in...	ORPHA:370968
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aspiration pneumonia	ORPHA:141152
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ...	ORPHA:163665
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Spondylocostal Dysostosis 5	Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis	OMIM:122600
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Facial diplegia, Neonatal death, Respiratory failure, Short neck, Respir...	OMIM:611890
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at...	OMIM:616867
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory insufficienc...	OMIM:614399
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Respiratory insufficiency, Ab...	OMIM:276950
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Optic atrophy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Short stature, ...	OMIM:618174
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis, Camptodactyly of finger	ORPHA:3180
Combined Oxidative Phosphorylation Deficiency 23	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growt...	OMIM:616198
Nemaline Myopathy 8	Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp...	OMIM:615348
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Congenital muscular torticollis, Ventricular septal defect, ...	ORPHA:2345
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Intrauterine growth retardation, Congestive heart failure	OMIM:301021
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Peripheral arteriovenous fistula, Congestive hea...	ORPHA:90308
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Alg3-Cdg	Hypoplasia of the pons, Cardiomyopathy, Abnormality of the gastrointestinal tract, Dandy-Walker m...	ORPHA:79321
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lipoid pneumonia, EMG: myopathic ab...	OMIM:620326
Congenital Gerbode Defect	Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en...	ORPHA:99095
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Vertebral segmentation defect	ORPHA:2956
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re...	ORPHA:99105
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Congestive heart failure	OMIM:615440
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Pulmonary hypoplasia, Agenesis of pulmonary vessels, Multilobulated sple...	OMIM:601186
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platy...	OMIM:271530
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Genu valgum, Genu varum, Delayed skeletal maturation	OMIM:608361
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Vertebral wedging, Stiff neck, Joint stiffness, Kyphoscoliosis, Beaking of vertebr...	OMIM:616583
Meckel Syndrome 14	Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, ...	OMIM:619879
Endocardial Fibroelastosis	Endocardial fibroelastosis, Hypoplasia of penis, Restrictive cardiomyopathy, Congestive heart fai...	ORPHA:2022
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Scoliosis, De...	OMIM:156530
Diaphanospondylodysostosis	Myelomeningocele, Short neck, Abnormal vertebral segmentation and fusion, Absent or minimally oss...	ORPHA:66637
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Weakness of fa...	ORPHA:254875
Succinic Acidemia	Respiratory distress	OMIM:600335
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph...	OMIM:263000
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Cerebellar dysplasia, Knee fl...	OMIM:616531
Christian Syndrome	Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae	OMIM:309620
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho...	ORPHA:50251
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Ventricular se...	OMIM:113000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Primary Basilar Invagination	Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck	ORPHA:2285
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Stroke-like episode, Ragged-red muscle fibers, Myopathy, Arrhythmia, Le...	OMIM:540000
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi...	ORPHA:922
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf muscle hypertro...	OMIM:607155
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:236750
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Recurrent aspiratio...	ORPHA:2590
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis	ORPHA:93304
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Recurrent pne...	OMIM:620249
Bronchopulmonary Dysplasia	Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, Abnormal lung morphology, P...	ORPHA:70589
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly, Avascular necrosis of the capital femoral epiphysis	OMIM:617383
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Hypoplastic heart, Amyoplasia, Intrauterine growth retardation, Increased susc...	OMIM:312150
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle...	ORPHA:1457
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joint mobi...	ORPHA:2619
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Hydranencephaly, Hypoplasia of the brainstem, Ureteral agenesis, Redundant neck...	OMIM:236500
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Intrauterine growth retardation, Redundant neck skin, Neonatal death, Pulmonary a...	OMIM:619003
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Verheij Syndrome	Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, J...	OMIM:615583
Cirrhotic Cardiomyopathy	Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Pe...	ORPHA:57777
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial ...	ORPHA:2414
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Atelosteogenesis, Type Ii	Platyspondyly, Cervical kyphosis, Respiratory insufficiency, Lumbar hyperlordosis, Increased inte...	OMIM:256050
Lethal Osteosclerotic Bone Dysplasia	Intrauterine growth retardation, Delayed cranial suture closure, Respiratory failure, Short neck	ORPHA:1832
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Abdominal situs inversus, Intestinal malrotation, Atriov...	OMIM:270100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Intrauterine growth retardation, Left ventricu...	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 28	Polyhydramnios, Ragged-red muscle fibers, Congestive heart failure	OMIM:616794
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Vertebral wedging, Advanced ossification of carpal bones, Flat acetabular roof, Ge...	OMIM:617719
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Atrial s...	ORPHA:980
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib...	OMIM:178500
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Genu valgum, Kyphos...	ORPHA:85198
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Delayed skeletal maturation, Irregular acetabular roof, Reduced bone mineral densi...	OMIM:617974
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga...	ORPHA:95430
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Hypoplastic heart, Amyoplasia, Intrauterine growth retardation, Increased susc...	OMIM:253290
Sandhoff Disease	Cherry red spot of the macula, Recurrent respiratory infections, Congestive heart failure	ORPHA:796
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular sep...	OMIM:615524
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Situs inversus totalis, ...	OMIM:613686
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Lethal Congenital Contracture Syndrome 11	Elbow flexion contracture, Intrauterine growth retardation, Distal arthrogryposis, Flexion contra...	OMIM:617194
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Multicystic kidney dysplasia, Dandy-Walker malformation, Pulmonary hypopl...	ORPHA:3032
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Death in adolescence, Stillbirth	OMIM:619751
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong...	OMIM:613426
Pallister-Hall-Like Syndrome	Microglossia, Occipital encephalocele, Chiari type I malformation, Micropenis, Hydrocephalus, Sho...	OMIM:241800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Cervical spinal canal stenosis, Elbow contracture, Elbow flexion contracture...	OMIM:178110
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hip dislocation, Skeletal muscle atrophy, Multiple joint contractures...	OMIM:618291
Marden-Walker Syndrome	Joint contracture of the hand, Inferior cerebellar vermis hypoplasia, Decreased muscle mass, Post...	OMIM:248700
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae	OMIM:214300
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Wild Type Attr Amyloidosis	Aortic valve stenosis, Nephropathy, Nephrotic syndrome, Congestive heart failure, Hypertrophic ca...	ORPHA:330001
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Dilated cardiomyopathy, Neuropathic spinal arthropathy, Ragged-red muscle fibers...	ORPHA:352447
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block...	ORPHA:300751
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Rectus femoris muscle atrophy, Muscular dystrophy...	ORPHA:98905
Danon Disease	Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon...	OMIM:300257
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Chylothorax, Arteriovenous malformation, Lymphedema, Congestive heart failure, Abnorma...	ORPHA:137667
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent...	OMIM:261740
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Vertebral wedging, Anterior radial head dislocation, Biconcave vertebr...	OMIM:610967
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Hamstring contractures, Knee flexion ...	OMIM:310200
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Keratoconus Posticus Circumscriptus	Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion	OMIM:244600
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Prominent superficial veins, Peripheral arteriovenous fistula, Conges...	ORPHA:141179
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	ORPHA:99642
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Intrauterine grow...	ORPHA:1194
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Hypospadias, Dilated cardiomyopathy, Congestive heart failure, Intraut...	OMIM:610198
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Truncus arterio...	OMIM:620294
Bruck Syndrome	Platyspondyly, Arthrogryposis multiplex congenita, Respiratory insufficiency, Pterygium, Joint st...	ORPHA:2771
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal heart morphology, Tetralogy of Fallot, Partial diaphragmatic absenc...	ORPHA:2847
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Webbed neck, Gastroesophageal reflux, Tetralogy of Fallot, Intestinal mal...	OMIM:618316
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ankle flexion contracture, Stillbirth, Elbow flexion contracture, Knee flexion contracture, Hip c...	OMIM:617468
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Intermediate Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Resp...	ORPHA:171433
Mulibrey Nanism	Congestive heart failure, Ascites, Intrauterine growth retardation, Cardiomegaly, Pericardial con...	OMIM:253250
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf...	OMIM:619334
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
Czeizel-Losonci Syndrome	Myelomeningocele, Ureteral agenesis, High palate, Hydronephrosis, Tracheoesophageal fistula, Spin...	ORPHA:2437
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial...	ORPHA:99050
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Chromosome 13Q33-Q34 Deletion Syndrome	Hypospadias, Penoscrotal transposition, Pyloric stenosis, Delayed eruption of teeth, Anteriorly p...	OMIM:619148
Pseudodiastrophic Dysplasia	Platyspondyly, Phalangeal dislocation, Scoliosis, Elbow dislocation	ORPHA:85174
Progressive Pseudorheumatoid Arthropathy Of Childhood	Joint contracture of the hand, Limitation of joint mobility, Genu valgum, Beaking of vertebral bo...	ORPHA:1159
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Intrauterine growth retardation, Left ventricular hypertrophy, Abno...	OMIM:616733
Developmental And Speech Delay Due To Sox5 Deficiency	Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis	ORPHA:313892
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ...	ORPHA:2357
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Combined Oxidative Phosphorylation Deficiency 51	Intrauterine growth retardation, Respiratory failure, Neonatal respiratory distress, Aspiration p...	OMIM:619057
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Upper limb muscle weakness, Lower limb muscle weakness, Aspiration pneumonia, Respiratory failure...	ORPHA:90117
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Cardiomyopathy, Abnormal heart morphology, Scoliosis, Res...	ORPHA:79327
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Pulmonary hypoplasia, Sec...	OMIM:616866
Heterotaxy, Visceral, 12, Autosomal	Hypoplastic left heart, Pulmonary artery atresia, Double inlet right ventricle, Dextrotranspositi...	OMIM:619702
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Proximal Spinal Muscular Atrophy	Recurrent aspiration pneumonia, Neonatal respiratory distress, Hip dislocation, Skeletal muscle a...	ORPHA:70
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Prominent superficial veins, Peripheral arteriovenous fistula, Conges...	ORPHA:141184
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration	ORPHA:77260
Morquio Syndrome C	Platyspondyly	OMIM:252300
Kbg Syndrome	Delayed skeletal maturation, Persistent open anterior fontanelle, Congenital malformation of the ...	ORPHA:2332
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Respiratory insufficiency, Ectopic ossification in ligament tiss...	OMIM:135100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Finger syndactyly, Stillbirth, Umbilical hernia, Aplasia of the distal phalanx of the 3rd finger,...	OMIM:308050
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels...	ORPHA:568051
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Pulmonary hypoplasia, Cleft palate, Camptodactyly of finger, Abnormal lung lobation	ORPHA:2631
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped...	ORPHA:2299
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Pterygium...	OMIM:259450
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis	OMIM:615993
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	ORPHA:324588
Morbid Obesity And Spermatogenic Failure	Premature coronary artery atherosclerosis, Hypertension, Myocardial infarction, Congestive heart ...	OMIM:615703
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Cardiomegaly, Nephrotic syndrome, Hydrops fetalis	OMIM:269920
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Stroke, Atria...	ORPHA:49827
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Hereditary Butyrylcholinesterase Deficiency	Myocardial infarction, Congestive heart failure	ORPHA:132
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Elbow dislocation, Congenital muscular torticollis, Hypopl...	ORPHA:2916
Fryns Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Short...	ORPHA:2059
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ...	OMIM:314400
Desminopathy	Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Weaknes...	ORPHA:98909
Thanatophoric Dysplasia	Disproportionate short-limb short stature, Intrauterine growth retardation, Increased nuchal tran...	ORPHA:2655
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Neonatal respiratory distress, Thoracic platyspondyly, Death in childhood, Increased intervertebr...	OMIM:618961
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Wildervanck Syndrome	Meningocele, Facial palsy, Fused cervical vertebrae, Short neck	ORPHA:3456
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi...	ORPHA:206569
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification...	OMIM:208000
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Combined Oxidative Phosphorylation Deficiency 22	Intrauterine growth retardation, Pulmonary arterial hypertension, Congestive heart failure	OMIM:616045
Ring Chromosome 21 Syndrome	Abnormal heart morphology, Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae	ORPHA:1445
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Wolff-Parkinson-White syndrome	OMIM:618234
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr...	ORPHA:60032
Bronchiolitis Obliterans	Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Bronchiectasis	ORPHA:1303
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic aciduria, End...	OMIM:212140
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Gastri...	OMIM:613490
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat...	ORPHA:363705
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture	ORPHA:157973
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Bacterial endocarditis, Oliguria, Congestive heart failure, Stroke, Heart m...	ORPHA:1054
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na...	ORPHA:93315
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Genu valgum, Irregularity of vertebral bodies	OMIM:609324
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Webbed neck, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pleural effusion, Vent...	OMIM:616897
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Cardiomyopathy, Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion,...	OMIM:616549
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Oligohydramnios, Polyhydramnios, Hydrops fetalis, Pericarditis	ORPHA:163596
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin...	OMIM:616414
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten...	OMIM:126320
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Joint hypermobility, Hemivertebrae, Recurrent respiratory ...	ORPHA:2759
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ...	OMIM:620278
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Respiratory insufficiency, Bilateral lung agenesis, Neonatal death, Abnormal cardiac septum morph...	OMIM:601612
Fetal Akinesia Deformation Sequence	Generalized amyotrophy, Camptodactyly of finger, Intrauterine growth retardation, Multiple joint ...	ORPHA:994
Cednik Syndrome	Stroke, Nephrotic syndrome, Proteinuria, Congestive heart failure	ORPHA:66631
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Lateral Meningocele Syndrome	Kyphosis, Decreased muscle mass, Umbilical hernia, Sclerosis of skull base, Biconcave vertebral b...	OMIM:130720
Kniest Dysplasia	Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed...	ORPHA:485
Hereditary Motor And Sensory Neuropathy, Type Iic	Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr...	OMIM:606071
Classic Multiminicore Myopathy	Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu...	ORPHA:324604
Spondyloepiphyseal Dysplasia Tarda	Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Inter...	ORPHA:93284
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis, Decreased muscle mass, Congestive heart failure, Facial hypotonia, Atrial septa...	ORPHA:500533
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Tetralogy of Fallot, Multiple renal cysts, Pulmonary hypoplasia	ORPHA:3033
Hemochromatosis, Type 2A	Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:602390
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Bronchiectasis, Situs inversus totalis, Chron...	OMIM:608647
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Umbilical hernia, Joint hypermobility, Abnormality of t...	ORPHA:915
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis, Genu varum	OMIM:618728
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Tonne-Kalscheuer Syndrome	Hypospadias, Velopharyngeal insufficiency, Abnormal heart morphology, Congenital diaphragmatic he...	OMIM:300978
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Mosaic Trisomy 16	Craniofacial asymmetry, Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, H...	ORPHA:1708
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th...	OMIM:184100
Laryngomalacia	Respiratory distress	OMIM:150280
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Neonatal death, Hydronephrosis, Tracheoesophageal fistula, Urethra...	OMIM:314390
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Natal tooth, Lobulated tongue, Atelectasis, Hamartoma of tongue, Intestinal mal...	OMIM:269860
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy, Ventricular septal defect	OMIM:616277
Dental Anomalies And Short Stature	Platyspondyly, Delayed skeletal maturation, Herniation of intervertebral nuclei, Mitral valve pro...	OMIM:601216
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Irregular vertebral endplates, Lumbar scoliosis, Kyphoscoliosis	OMIM:612847
Pagod Syndrome	Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Multicystic kidney dysplasia,...	ORPHA:991
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Intrauterine g...	OMIM:245400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Intrauterine growth retardation, Splenomegaly, Aqueductal stenosis, Pulmo...	ORPHA:3035
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Camptodactyly of finger, Intrauterine growth retardation, Abnormal pleura morpho...	ORPHA:2570
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Perching Syndrome	Respiratory distress	OMIM:617055
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure	ORPHA:91130
Tetrasomy 5P	Congestive heart failure, Postnatal growth retardation, Redundant neck skin, Cerebellar hypoplasi...	ORPHA:3309
Oligomeganephronia	Unilateral renal agenesis, Secundum atrial septal defect, Branchial cyst, Optic disc coloboma, Bi...	ORPHA:2260
Fabry Disease	Lipiduria, Congestive heart failure, Lymphedema, Transient ischemic attack, Renal insufficiency, ...	OMIM:301500
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea, Acute infectious pneumonia	ORPHA:140896
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
Distal Triplication 15Q	Abnormal heart morphology, Horseshoe kidney, Intrauterine growth retardation, Hypoplastic aortic ...	ORPHA:314588
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Respiratory insufficiency, Encephalocele, Joint hype...	ORPHA:93274
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Weakness of facial musculature	OMIM:618637
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis	ORPHA:411703
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Hip osteoarthritis, Osteoarthritis	OMIM:271600
Greenberg Dysplasia	Platyspondyly, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossification, Decrease...	ORPHA:1426
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Severe Congenital Nemaline Myopathy	Nemaline bodies, Hypospadias, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predo...	ORPHA:171430
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph...	ORPHA:2257
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Inflammation of the large intestine, Interstitial emphysema, Hypoplasia of the pon...	OMIM:619708
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Telangiectasia, Cardiomegaly...	OMIM:235200
Autosomal Recessive Multiple Pterygium Syndrome	Webbed neck, Skeletal muscle atrophy, Umbilical hernia, Camptodactyly of finger, Intrauterine gro...	ORPHA:2990
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner...	ORPHA:90650
Pseudodiastrophic Dysplasia	Platyspondyly, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lumbar vertebra...	OMIM:264180
Serkal Syndrome	Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Congenital diaphragmatic hern...	ORPHA:139466
Pyle Disease	Platyspondyly, Genu valgum, Limited elbow extension, Reduced bone mineral density, Cubitus valgus...	OMIM:265900
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Stroke-like episode, Abnormal heart morphology, Congestive heart fai...	ORPHA:70472
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Widening of cervical spin...	OMIM:253310
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Abnormality of the diaphragm, Congenital diaphragmatic hernia, Pulmonary ...	OMIM:601163
Alkaptonuria	Aortic valve calcification, Limited hip movement, Intervertebral disk degeneration, Thickened Ach...	OMIM:203500
Hemochromatosis, Type 2B	Cardiomyopathy, Congestive heart failure	OMIM:613313
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu...	ORPHA:66529
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal...	OMIM:118100
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility	ORPHA:168555
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	OMIM:606703
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Dyspnea, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion	OMIM:234810
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Hypoplasia of the odontoid process, Irregularity of vertebral bodies	ORPHA:85172
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Dysplastic patella, Congenital diaphragmatic hernia, Patellar aplasia, Sho...	OMIM:265000
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia	ORPHA:2140
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of t...	OMIM:253000
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria...	OMIM:259440
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic acidu...	OMIM:611126
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Submucous cleft hard palate, Hyposegmentation of neutrophil nucl...	ORPHA:250999
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifi...	OMIM:102510
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Abnormal card...	ORPHA:367
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal tendon morphology, Cong...	ORPHA:85446
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Severe platyspondyly, To...	OMIM:620639
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations...	ORPHA:99094
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Flexion contracture, Camptodactyly of finger, Congestive hea...	ORPHA:261519
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Crazy paving pattern, Tachypnea, Acute infectious pneumonia	ORPHA:264675
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Natal tooth, Lobulated tongue, Hamartoma of tongue, Encephalocele, ...	OMIM:616300
Acalvaria	Abnormal lung lobation, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Holopr...	ORPHA:945
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Hamartoma of tongue, Occipital meningo...	OMIM:616546
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery...	ORPHA:90065
Thoracoabdominal Syndrome	Hypospadias, Congenital diaphragmatic hernia, Transposition of the great arteries, Hydrocephalus,...	OMIM:313850
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Umbilical hernia, Knee dislocation, Shoulder dislocation, Mitral valve prolapse, Thor...	OMIM:618000
Pentalogy Of Cantrell	Hypospadias, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphr...	ORPHA:1335
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Hall-Riggs Syndrome	Platyspondyly, Delayed skeletal maturation, Intrauterine growth retardation, Osteoporosis, Scolio...	OMIM:234250
Meckel Syndrome, Type 1	Occipital encephalocele, Natal tooth, Chiari malformation, Abnormality of the ureter, Large place...	OMIM:249000
Agnathia-Otocephaly Complex	Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Agenesis of corpus...	OMIM:202650
Cantu Syndrome	Platyspondyly, Congenital hypertrophy of left ventricle, Delayed skeletal maturation, Umbilical h...	OMIM:239850
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon...	ORPHA:178320
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect, Aplasia/Hypoplasia...	ORPHA:1296
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis	ORPHA:93283
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia, Abnorma...	OMIM:266500
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Mo...	OMIM:613177
Larsen Syndrome	Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalac...	OMIM:150250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Delayed epiphyseal ossification, Hip dislocation, Hip subl...	ORPHA:93360
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hypoplasia of the pons, Agenesis of corpus callosum, Hypoglycosylation o...	ORPHA:370959
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral ...	OMIM:305620
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, ...	OMIM:614262
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Thoracic platyspondyly, Joint stiffness, Genu valgum, Abnormal acet...	ORPHA:166011
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Irregular patellae, Osteoporotic tarsals, Flat acetabular roof, Ovoid vertebral bo...	OMIM:609052
Caudal Regression Syndrome	Pulmonary hypoplasia, Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, Joint stiffness, H...	ORPHA:3027
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae	OMIM:156510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Multiple joint dislocation, Knee dislocation, Joint hypermobility, Narrow vertebra...	OMIM:618395
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Pulmo...	ORPHA:449280
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Volvulus, Tetralogy of Fallot, Abnormality of the uret...	ORPHA:2970
Asbestos Intoxication	Cor pulmonale, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thick...	ORPHA:2302
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Tachypnea, Nasal flaring	ORPHA:70587
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, Facial diplegia, Neonatal death, Hypomimic face, Limb joint contractur...	OMIM:618186
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Arrhythmia, Myocarditis, Periorbital edema, Edema	ORPHA:3386
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Tricuspid regurgitation, Atrioventricular canal defect, Congenital diaphr...	ORPHA:1120
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu...	ORPHA:2326
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Intrauterine growth retardation, Perimembranous ventricular s...	OMIM:618804
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Periphera...	ORPHA:75249
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Skeletal muscle atrophy, Anterior beaking of lumbar verteb...	OMIM:230650
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:610127
Matthew-Wood Syndrome	Renal hypoplasia, Duodenal stenosis, Horseshoe kidney, Intrauterine growth retardation, Vesicoure...	ORPHA:2470
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Recurrent pneumonia, Scoliosis	OMIM:602271
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Intrauterine growth ret...	OMIM:604320
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Abnormal heart morphology, Congenital diaphragmatic hernia, Short neck, T...	OMIM:263210
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Dk1-Cdg	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac...	ORPHA:91131
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Arthrogryposis multiplex congenita, Respiratory failure, Respira...	OMIM:615330
Koolen-De Vries Syndrome	Hip dislocation, Kyphosis, Sacral dimple, Intrauterine growth retardation, Spondylolisthesis, Ven...	OMIM:610443
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Narrow palate, Stiff neck, Intrauterine growth re...	OMIM:617022
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Pulmonary hypoplasia	ORPHA:2141
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation	OMIM:614370
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Abnormal heart morphology, Encephalocele, Short neck, Hydrocephalus, Flexio...	ORPHA:1865
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Camptodactyly of finger, Elbow flexio...	ORPHA:1692
Staphylococcal Necrotizing Pneumonia	Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Acute infectious pneu...	ORPHA:36238
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder diverticula, Urethral...	ORPHA:90349
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Splenomegaly,...	OMIM:615636
Congenital Fiber-Type Disproportion Myopathy	Hypoplasia of the musculature, Aspiration pneumonia, Hip contracture, Flexion contracture of fing...	ORPHA:2020
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis	OMIM:184840
Cardiogenic Shock	Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ...	ORPHA:97292
Vacterl With Hydrocephalus	Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Spina bifida, Hyd...	ORPHA:3412
Spondylocarpotarsal Synostosis Syndrome	Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpal synostos...	OMIM:272460
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Mosaic Trisomy 20	Spinal canal stenosis, Intrauterine growth retardation, Abnormal mitral valve morphology, Dysplas...	ORPHA:1724
Pparg-Related Familial Partial Lipodystrophy	Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis,...	ORPHA:79083
Odontochondrodysplasia	Platyspondyly, Death in infancy, Joint hypermobility, Scoliosis, Patent ductus arteriosus	ORPHA:166272
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Wide anterior fontanel	OMIM:618240
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Atrial septal defect, Ventricular fibrillation, Holoprosencephaly, Hyp...	OMIM:270400
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart...	ORPHA:52430
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Odontochondrodysplasia 1	Platyspondyly, Genu recurvatum, Biconvex vertebral bodies, Death in infancy, Joint hypermobility,...	OMIM:184260
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Meckel Syndrome, Type 6	Occipital encephalocele, Horseshoe kidney, Renal cyst, Bilobed right lung, Hydrocephalus, Anencep...	OMIM:612284
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p...	ORPHA:79126
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali...	OMIM:615415
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic acidu...	ORPHA:99901
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Bronchiectasis, Atelectasis, Atrial situs ambiguous, Abnormal hear...	ORPHA:244
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uvula, Skeletal ...	ORPHA:2671
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy	OMIM:619386
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges...	ORPHA:94080
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited elbow extension, Os...	OMIM:271650
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cystic hygroma, Narrow palate, Hydranencephaly, Lateral ventricle dilatation, Atelectasis, Tricus...	OMIM:620371
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Flexion contracture, Distal amyotrophy, Scoliosis, Respiratory failure	OMIM:616505
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scoliosis, Recurre...	OMIM:615220
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Occipital encephalocele, Disproportionate short-limb short stature, Neonata...	OMIM:224410
Bruck Syndrome 2	Platyspondyly, Osteopenia, Elbow flexion contracture, Pterygium, Increased susceptibility to frac...	OMIM:609220
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Cerebellar hypoplasia, Short stature,...	OMIM:612530
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypersensiti...	ORPHA:79127
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he...	ORPHA:624
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Micropenis...	OMIM:618280
Stickler Syndrome Type 1	Platyspondyly, Abnormal vertebral epiphysis morphology, Mitral valve prolapse, Joint hypermobilit...	ORPHA:90653
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Myhre Syndrome	Aortic valve stenosis, Platyspondyly, Limitation of joint mobility, Skeletal muscle hypertrophy, ...	OMIM:139210
Meacham Syndrome	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar...	OMIM:608978
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Recurrent upper respiratory tract infections, Oligosacchariduria, Congestiv...	ORPHA:423461
Larsen-Like Syndrome, Lethal Type	Multiple joint dislocation, Joint dislocation, Tracheomalacia, Respiratory insufficiency, Neonata...	OMIM:245650
Tarp Syndrome	Optic atrophy, Extramedullary hematopoiesis, Tetralogy of Fallot, Horseshoe kidney, Intrauterine ...	ORPHA:2886
Esophageal Atresia	Pyloric stenosis, Barrett esophagus, Gastroesophageal reflux, Gastrointestinal carcinoma, Bronchi...	ORPHA:1199
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, Congestive h...	OMIM:619355
Malaria	Respiratory distress	ORPHA:673
Koolen-De Vries Syndrome	Hip dislocation, Vertebral segmentation defect, Joint hypermobility, Bicuspid aortic valve, Abnor...	ORPHA:96169
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration	OMIM:620011
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Short n...	ORPHA:818
Axial Mesodermal Dysplasia Spectrum	Gastroesophageal reflux, Abnormality of the spleen, Abnormality of the ureter, Anorectal anomaly,...	ORPHA:1834
Angioosteohypotrophic Syndrome	Telangiectasia of the skin, Venous malformation, Prominent superficial veins, Edema	ORPHA:75508
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis,...	OMIM:271520
Immunodeficiency 54	Intrauterine growth retardation, Respiratory failure, Recurrent respiratory infections, Respirato...	OMIM:609981
Lethal Congenital Contracture Syndrome Type 1	Webbed neck, Skeletal muscle atrophy, Short neck, Short stature, Pulmonary hypoplasia	ORPHA:1486
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae	ORPHA:2522
Shashi-Pena Syndrome	Kyphosis, Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Limb hypertonia, Atri...	OMIM:617190
Fryns Syndrome	Joint contracture of the hand, Ventricular septal defect, Agenesis of corpus callosum, Short neck...	OMIM:229850
Babesiosis	Recurrent pharyngitis, Renal insufficiency, Myocardial infarction, Congestive heart failure	ORPHA:108
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Myelomeningocele, Abnormal heart valve morphology, Ureteral obstruction,...	ORPHA:90652
Diaphanospondylodysostosis	Webbed neck, Horseshoe kidney, Intrauterine growth retardation, Increased nuchal translucency, Sh...	OMIM:608022
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Delayed skeletal maturation, Irregular acetabu...	OMIM:184252
Fg Syndrome Type 1	Broad neck, Pyloric stenosis, Gastroesophageal reflux, Abnormal large intestine morphology, Umbil...	ORPHA:93932
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Neonatal death, Short neck, Aqueductal stenosis, Cystic hygroma,...	OMIM:251230
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Pneumonia	ORPHA:596
Schwartz-Jampel Syndrome, Type 1	Platyspondyly, Congenital hip dislocation, Joint contracture of the hand, Cervical kyphosis, Skel...	OMIM:255800
Parkes Weber Syndrome	Myelopathy, Arteriovenous malformation, Lower limb muscle weakness, Vascular tortuosity, Urinary ...	ORPHA:90307
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Hutchinson-Gilford Progeria Syndrome	Premature coronary artery atherosclerosis, Congestive heart failure, Angina pectoris, Precocious ...	OMIM:176670
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Slc35A1-Cdg	Respiratory distress, Pulmonary hemorrhage, Pneumonia	ORPHA:238459
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Polysplenia, Intestinal malrotation, Stage 5 chronic kidney disease, Porta...	OMIM:208540
Nephronophthisis 2	Nephronophthisis, Stage 5 chronic kidney disease, Situs inversus totalis, Absence of renal cortic...	OMIM:602088
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Congestive heart failure, Myopathy, Rhabdomyolysis, Arrhythmia, Myoglobin...	OMIM:609015
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Delayed ossification of carpal bones, Limited hip m...	ORPHA:93346
Milroy Disease	Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema, Varicose veins, Peda...	ORPHA:79452
Spinal Arteriovenous Metameric Syndrome	Urinary bladder sphincter dysfunction, Spinal arteriovenous malformation, Arteriovenous malformat...	ORPHA:53721
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Hip contracture, Short neck, High palate, High, narrow palate, Small place...	OMIM:208150
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Patent foramen ovale, Limb hypertonia, Atrial septal defect, Lim...	OMIM:620327
Atransferrinemia	Congestive heart failure	OMIM:209300
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis, Myopathy, Coronary artery...	ORPHA:2348
Thanatophoric Dysplasia, Type I	Disproportionate short-limb short stature, Lethal short-limbed short stature, Neonatal death, Sho...	OMIM:187600
Combined Oxidative Phosphorylation Deficiency 59	Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, Severely reduced le...	OMIM:620646
Pneumocystosis	Respiratory insufficiency, Pleural effusion, Interstitial pneumonitis, Multiple pulmonary cysts, ...	ORPHA:723
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Portal hypertension, Splenomegaly, Renal insufficiency, Neo...	OMIM:263200
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Respiratory insufficiency, Atele...	ORPHA:258
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Arthrogryposis multip...	OMIM:607598
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Hepatic failure, Portal ...	OMIM:620367
Autosomal Recessive Stickler Syndrome	Platyspondyly, Genu valgum, Joint hypermobility, Irregular vertebral endplates	ORPHA:250984
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Arteriovenous malformation, Venous insufficiency, Congestive heart failure	ORPHA:137608
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm...	ORPHA:2198
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Arterial dissection, Recurrent pneumonia, Abnormal venous morphology, Decreased muscle mass, Cong...	ORPHA:1900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Gastroesophageal reflux, Cerebellar atrophy, Vesicoureteral reflux, Congenital dia...	OMIM:614080
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Camptodactyly, Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Joint hypermobility	OMIM:617333
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoa...	OMIM:183900
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed...	ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Central vertebral ...	ORPHA:93352
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure	ORPHA:2254
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, Neonatal death	OMIM:300219
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Delayed epiphyseal ossification, Hypoplasia of the odont...	OMIM:177170
Geroderma Osteodysplastica	Platyspondyly, Abnormal form of the vertebral bodies, Recurrent fractures, Biconcave vertebral bo...	ORPHA:2078
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral lung agenesi...	OMIM:611812
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Nephrotic syndrome, Nephritis, Congestive heart failure,...	ORPHA:91139
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Hypoplasia of the brainstem, Intrauterine growth retardation, Cerebellar hypoplasia, Partial agen...	ORPHA:86822
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Neonatal death, Respiratory failure, Wide anterior...	OMIM:616482
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Beaking of vertebral bodi...	OMIM:609616
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, G...	OMIM:616843
Kagami-Ogata Syndrome	Diastasis recti, Splenomegaly, Ventricular septal defect, Pulmonary arterial hypertension, Atrial...	OMIM:608149
Renal Agenesis, Bilateral	Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate, Pulmonary hy...	ORPHA:1848
Chitayat Syndrome	Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Chondroectodermal Dysplasia With Night Blindness	Platyspondyly, Osteopenia, Fractures of the long bones, Delayed skeletal maturation, Abnormality ...	ORPHA:319195
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, High, narrow palate, Protruding tongue, Redundant neck skin, Ventricular septal de...	OMIM:214100
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Flexion contracture, Congenital pyloric atresia, Neonatal death	OMIM:612138
Ogden Syndrome	Torsade de pointes, Postnatal growth retardation, Ventricular septal defect, Pulmonary edema, Pre...	OMIM:300855
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Neonatal death, Respiratory insufficiency	OMIM:187601
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Genitopatellar Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Delayed eruption of teeth, Knee flexion co...	ORPHA:85201
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Intrauterine growth retardation, Congen...	ORPHA:958
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Oliguria, Xerostomia, Congestive heart failure, Renal insufficiency, Telangi...	ORPHA:220393
Fanconi Anemia, Complementation Group B	Aplastic anemia, Duodenal atresia, Abnormal lung lobation, Intrauterine growth retardation, Ventr...	OMIM:300514
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Limitation of joint ...	OMIM:607326
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion...	ORPHA:90186
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis	ORPHA:99825
Meier-Gorlin Syndrome 7	Hypospadias, Anal stenosis, Second degree atrioventricular block, Anteriorly placed anus, Duodena...	OMIM:617063
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval...	ORPHA:555874
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, Neonatal death, Cardiomegaly, ...	OMIM:608013
Thanatophoric Dysplasia Type 1	Platyspondyly, Respiratory insufficiency, Joint stiffness, Patent ductus arteriosus, Abnormal sac...	ORPHA:1860
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Death in childhood, Myopathy, Neonatal death, Death in infancy, Stillbirth, Respi...	OMIM:614922
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Thenar muscle atrophy, Flexion contracture	ORPHA:157965
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Abnormal hip joint morphology, Limited elbow extension, Delayed pubic bone ossific...	ORPHA:1856
Achondrogenesis Type 2	Short stature, Pulmonary hypoplasia	ORPHA:93296
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy,...	OMIM:614299
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Esophagitis, Perineal fistula, Abnormal metacarpal morphology, Atrial ...	ORPHA:2538
Achondrogenesis	Severe short stature, Umbilical hernia, Short neck, Aplasia/Hypoplasia of the lungs, Thickened nu...	ORPHA:932
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Tachypnea, Recurrent respira...	OMIM:610978
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Generalized ost...	OMIM:184095
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Occipital encephalocele, Abnormality of the urethra, A...	ORPHA:887
Achondrogenesis Type 1B	Severe short stature, Disproportionate short stature, Umbilical hernia, Short neck, Aplasia/Hypop...	ORPHA:93298
Distal Deletion 15Q	Multicystic kidney dysplasia, Postnatal growth retardation, Congenital diaphragmatic hernia, Bicu...	ORPHA:1596
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycar...	OMIM:605676
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Nephrotic syndrome, Recurrent...	OMIM:617303
Fontaine Progeroid Syndrome	Protruding tongue, Neonatal death, Low posterior hairline, Bicuspid aortic valve, Micropenis, Atr...	OMIM:612289
Anauxetic Dysplasia 1	Aortic valve stenosis, Atlantoaxial dislocation, Platyspondyly, Elbow flexion contracture, Intrau...	OMIM:607095
Lamb-Shaffer Syndrome	Thoracic kyphosis, Scoliosis, Fused cervical vertebrae	ORPHA:530983
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, High palate, Gastroesopha...	ORPHA:453499
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy	OMIM:615042
Meconium Aspiration Syndrome	Respiratory distress, Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiorespiratory arrest, Skeletal muscle atrophy, Cardiomyopathy, Abnormal heart morphology, Rha...	ORPHA:26791
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Short neck, Anteri...	OMIM:253220
Radio-Renal Syndrome	Chylothorax, Abnormal form of the vertebral bodies, Pleural effusion, Short neck, Respiratory fai...	ORPHA:3015
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Gastroesophageal reflux, Branchial cyst, Knee flexion contracture, Pul...	ORPHA:435938
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal form of the vertebral bodies, Vertebral segmentation defect, Atrial septal defect, Verte...	ORPHA:3109
Dyggve-Melchior-Clausen Disease	Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of the odontoid process, ...	ORPHA:239
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Skeletal muscle atrophy, Umbilical hernia, Increased bone mineral density, Reduced...	OMIM:614856
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Cantú Syndrome	Platyspondyly, Delayed skeletal maturation, Umbilical hernia, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:1517
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Increased susceptibility to f...	OMIM:231070
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Smooth tongue, Elbow flexion contracture, Intrauterine growth retarda...	OMIM:601559
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Anisospondyly, Delayed patellar ossification, Ovoid vertebral bodies, Short neck, ...	ORPHA:163649
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morpholog...	ORPHA:93351
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
X-Linked Mandibulofacial Dysostosis	Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Abnormality of the pulmonary ar...	ORPHA:1131
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev...	ORPHA:64743
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR...	ORPHA:99931
Schneckenbecken Dysplasia	Platyspondyly, Advanced ossification of carpal bones, Umbilical hernia, Advanced tarsal ossificat...	OMIM:269250
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver...	ORPHA:157798
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Cystic hygroma, Renal hypoplasia, Short uvula, Renal cyst, Short stature, Polycystic kidney dyspl...	OMIM:614091
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Kyphosis, Respiratory insufficiency, Myopathy, Death in infancy, Death i...	OMIM:615512
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171420
Basal Cell Nevus Syndrome 1	Vertebral wedging, Cardiac rhabdomyoma, Cardiac fibroma, Kyphoscoliosis, Spina bifida, Hemiverteb...	OMIM:109400
Fabry Disease	Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Lymphedema, Hypertr...	ORPHA:324
Neu-Laxova Syndrome 1	Broad neck, Hydranencephaly, Joint contracture of the hand, Small placenta, Intrauterine growth r...	OMIM:256520
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor, Growth delay	OMIM:243320
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis	ORPHA:71267
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he...	ORPHA:1830
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Recurrent sinusitis, Joint hypermobility, Short neck, Beaking of vertebral bodies, Atrial septal ...	OMIM:213980
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Umbilical hernia...	OMIM:601808
Alpha-Thalassemia	Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis	ORPHA:846
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A...	ORPHA:363618
Alg9-Cdg	Hypoplasia of the musculature, Ventricular septal defect, Low posterior hairline, Short neck, Atr...	ORPHA:79328
Amoebiasis Due To Entamoeba Histolytica	Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Constrictive pericar...	ORPHA:67
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Abnormal pulmonary interstitial morphology, P...	OMIM:612387
Gm1 Gangliosidosis	Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Camptodactyly of finger, Che...	ORPHA:354
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o...	OMIM:212093
Kniest Dysplasia	Platyspondyly, Delayed epiphyseal ossification, Limitation of joint mobility, Tracheomalacia, Umb...	OMIM:156550
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Abnormality of the ureter, Splenomegaly, Aplasia/Hypoplasia of the lungs, Anemia, Hypoplasia of p...	ORPHA:1046
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert...	ORPHA:3342
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Aortic valve stenosis, Platyspondyly, Hypoplasia of the odontoid process, Re...	OMIM:253010
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Axial Spondylometaphyseal Dysplasia	Platyspondyly, Osteopenia, Neonatal respiratory distress, Posterior wedging of vertebral bodies, ...	ORPHA:168549
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Delayed epiphyseal ossification, Central vertebral hypoplasia, Lumbar hyperlordosi...	OMIM:602557
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Bronchiectasis	OMIM:606763
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Intrauterine growth retardation, Large placenta, Diastasis recti, Joint hypermo...	ORPHA:254528
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Atelectasis, Postnatal growth retardation, Peripapillary atrophy, Multiple ...	ORPHA:536467
Achondrogenesis Type 1A	Severe short stature, Umbilical hernia, Short neck, Aplasia/Hypoplasia of the lungs, Thickened nu...	ORPHA:93299
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Natal tooth, Ventricular septal defect, Atrial septal defect, Short stature...	OMIM:145420
Desbuquois Dysplasia 1	Platyspondyly, Neonatal respiratory distress, Joint dislocation, Intrauterine growth retardation,...	OMIM:251450
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Neoplasm of the lung	ORPHA:142
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Spondylo-Ocular Syndrome	Platyspondyly, Ventricular septal defect, Joint hypermobility, Short neck, Facial hypotonia, Oste...	ORPHA:85194
Craniosynostosis, Herrmann-Opitz Type	Webbed neck, Abnormality of the urethra, Intrauterine growth retardation, Aplasia/Hypoplasia of t...	ORPHA:2145
Atelosteogenesis Type I	Rhizomelia, Neonatal short-trunk short stature, Multiple renal cysts, Malrotation of colon, Cleft...	ORPHA:1190
Schinzel-Giedion Syndrome	Abnormality of the ureter, Short neck, Hepatoblastoma, High palate, Dysphagia, Hypospadias, Neura...	ORPHA:798
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Platyspondyly, Irregular acetabular roof, Thickened aortic valve cusp, Gen...	OMIM:619698
Stickler Syndrome, Type I	Platyspondyly, Joint stiffness, Spondylolisthesis, Mitral valve prolapse, Morbus Scheuermann, Art...	OMIM:108300
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Intrauterine growth retardation, Short neck	OMIM:618958
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Stroke, Congestive heart failure	ORPHA:3077
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae	OMIM:184460
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion, Upper limb muscle weakness	ORPHA:370010
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Respiratory failure	ORPHA:168486
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Microcolon, Anuria, Megacystis, Ileal atresia, Pyelonephritis, Thoracic aort...	OMIM:619351
Congenital Generalized Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Prominent superficial veins, Macroglossia,...	ORPHA:528
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly, Pneumothorax, L...	OMIM:620306
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Ventricular septal defect, Wormian bones, Atrial septal defect, Flat acetabu...	OMIM:617159
Acrocephalopolydactylous Dysplasia	Polysplenia, Hypoplastic colon, Short neck, Hypoplasia of the small intestine, Extrapulmonary lob...	OMIM:200995
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure	OMIM:605711
Metaphyseal Chondrodysplasia, Schmid Type	Platyspondyly, Distal tibial bowing, Irregular acetabular roof, Lumbar hyperlordosis, Genu valgum...	OMIM:156500
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Joint swell...	ORPHA:465508
Avian Influenza	Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Dyspnea, Miscarriage	ORPHA:454836
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Cl...	ORPHA:2635
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Short neck, Decreased skull ossification, Ventricular septal defect	ORPHA:93267
Ollier Disease	Platyspondyly, Joint stiffness, Osteolysis, Bone pain	ORPHA:296
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:601809
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Joint contracture of the hand, Camptodactyly of finger, Dislocated rad...	OMIM:612350
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory tract infection, Cardiomegaly...	ORPHA:308552
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Increased susceptibility to fractures, Death in infan...	OMIM:241500
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Spina bifida occulta, Butterfly vertebrae, Fused cervical ver...	OMIM:619227
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Hypoplasia of the odontoid process, Genu valgum, Delayed pubic bone ossification, ...	OMIM:184250
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint...	OMIM:151200
Atelosteogenesis, Type I	Stillbirth, Elbow dislocation, Knee dislocation, Thoracic platyspondyly, Encephalocele, Neonatal ...	OMIM:108720
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi...	ORPHA:746
Dextrocardia	Webbed neck, Meckel diverticulum, Abnormal lung lobation, Abnormal EKG, Abnormality of the spleen...	ORPHA:1666
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Athe...	ORPHA:280365
Holoprosencephaly	Abnormality of the spleen, Encephalocele, Congenital diaphragmatic hernia, Ventricular septal def...	ORPHA:2162
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Renal insuffi...	OMIM:617478
Osteogenesis Imperfecta	Aortic root aneurysm, Mitral valve prolapse, Intestinal obstruction, Dysphagia, Noncommunicating ...	ORPHA:666
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea, Pneumothorax	ORPHA:1302
Raine Syndrome	Hydroureter, Natal tooth, Protruding tongue, Neonatal death, Hydronephrosis, Short neck, Hydrocep...	OMIM:259775
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Congestive heart failure, Intrauterine growth retardation, 3-Methylglutaconi...	OMIM:616271
Microphthalmia, Syndromic 3	Butterfly vertebrae, Ventricular septal defect, Hemivertebrae, Vertebral fusion, Patent ductus ar...	OMIM:206900
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Cardiac fibroma, Hemivertebrae, Vertebral fusio...	ORPHA:377
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Microglossia, Lateral ventricle dilatation, Tricuspid regurgitation...	OMIM:263520
Congenital Myopathy 17	Pulmonary hypoplasia, Renal hypoplasia, Ureteropelvic junction obstruction, Respiratory tract inf...	OMIM:618975
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus...	ORPHA:565612
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Short neck, Atr...	OMIM:609053
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu...	OMIM:616749
Waldenström Macroglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Pleural effusion, R...	ORPHA:33226
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Joint swelling, Pulmonary fibrosis, Osteolysis, Fused cervical vertebrae	OMIM:612852
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, 3-Methylglutaconic aciduria, Card...	OMIM:619259
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Recurrent pneumonia, Arthrogryposis multiplex congenita, Skeletal mus...	ORPHA:496641
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Wormian bones, Delayed skeletal maturation, Thoracic kyphosis	OMIM:619638
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Nephrotic syndrome, Recurrent respiratory infections, Congestive heart failure, Hyp...	ORPHA:505248
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Genu valgum, Laryngotracheomalacia, Reduced bone m...	ORPHA:94068
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Robinow Syndrome, Autosomal Recessive 1	Hip dislocation, Hypoplastic sacrum, Delayed skeletal maturation, Umbilical hernia, Abnormal hear...	OMIM:268310
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Congenital Myopathy 22B, Severe Fetal	Generalized amyotrophy, Hypoplasia of the musculature, Shoulder flexion contracture, Elbow flexio...	OMIM:620369
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Oliguria, Congestive heart failure, Renal ins...	ORPHA:727
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right...	OMIM:610655
Erdheim-Chester Disease	Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Joint swelling, Abno...	ORPHA:35687
Tetrasomy 9P	Abnormal mitral valve morphology, Short neck, Dextrocardia, High palate, Median cleft palate, Myo...	ORPHA:3310
Holoprosencephaly 1	Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Single ventricle	OMIM:236100
Holoprosencephaly 2	Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Submucou...	OMIM:157170
Glycine Encephalopathy With Normal Serum Glycine	Genu recurvatum, Hip dislocation, Elbow flexion contracture, Hip contracture, Joint hypermobility...	OMIM:617301
Glycogen Storage Disease Due To Acid Maltase Deficiency	Lower limb muscle weakness, Respiratory insufficiency, Hypertrophic cardiomyopathy, Atelectasis, ...	ORPHA:365
Mucopolysaccharidosis Type 4	Platyspondyly, Joint dislocation, Delayed skeletal maturation, Spinal canal stenosis, Abnormal he...	ORPHA:582
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure	OMIM:312170
Scorpion Envenomation	Acute kidney injury, Cardiogenic shock, Prominent U wave, Glycosuria, Ketonuria, Congestive heart...	ORPHA:466677
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Joint contracture of the hand, Interphalangeal joint contracture o...	ORPHA:1826
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Abnormal mitral valve mo...	ORPHA:903
Leigh Syndrome, Nuclear	Respiratory failure, Respiratory insufficiency	OMIM:256000
Thakker-Donnai Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricula...	ORPHA:1780
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Abnormality of t...	ORPHA:2869
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Telangiectasia, Glomerulonephritis, Albuminuria, Dys...	ORPHA:90291
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Umbilical hernia, Abnormal heart valve morphology, Congestive heart failure,...	OMIM:309900
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral...	OMIM:301068
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:743
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Pul...	ORPHA:31826
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture, Ske...	ORPHA:682
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Restrictive Dermopathy	Hypospadias, Webbed neck, Microcolon, Natal tooth, Camptodactyly of finger, Small placenta, Intra...	ORPHA:1662
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Recurrent pneumonia, Premature osteoarthritis, Lumbar hyperlordosis, Beaking of ve...	OMIM:215150
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai...	ORPHA:73224
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges...	ORPHA:276621
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Multicystic kidney dysplasia, Abnormal lung lobation, Agenesis of corpus callosum,...	ORPHA:3301
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure, Myopathy	ORPHA:363400
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Intrau...	OMIM:610505
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Proteus Syndrome	Venous malformation	OMIM:176920
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Intrauterine growth retardation, Oligohydramnios, Pa...	ORPHA:525731
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog...	ORPHA:85443
Arnold-Chiari Malformation Type I	Myelopathy, Stiff neck, Cervical C2/C3 vertebral fusion, Abnormality of the musculature of the lo...	ORPHA:268882
Anauxetic Dysplasia 3	Platyspondyly, Hip subluxation, Genu valgum, Joint hypermobility, Beaking of vertebral bodies, Re...	OMIM:618853
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thoracolumbar kyphosis, Disc-like vertebral bodies, Decreased cranial base ossification, Short ne...	OMIM:151210
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Platyspondyly, Limitation of joint mobility, Abnormal joint morpho...	ORPHA:1427
Platyspondylic Dysplasia, Torrance Type	Disproportionate short-limb short stature, Cleft palate, Pulmonary hypoplasia	ORPHA:85166
Werner Syndrome	Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Congestive heart failure, Atheros...	ORPHA:902
Tetraploidy	Chiari malformation, Intrauterine growth retardation, Hydronephrosis, Aplasia/Hypoplasia of the l...	ORPHA:3305
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Delayed skeletal maturation, Limited elbow extension, Genu ...	OMIM:602111
Dysosteosclerosis	Platyspondyly, Ventricular septal defect, Hypoplastic vertebral bodies, Increased bone mineral de...	ORPHA:1782
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Aplasia/Hypoplasia of the patella, Abnormal cardiac septum morphology, Patel...	ORPHA:3320
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Short stature, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Postnatal growth retardation, Intrauterine growth retardation, ...	ORPHA:96179
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Hypersplenism, Hepatoblastoma, Polycystic kidney dysplasia, Esophageal varix,...	ORPHA:731
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr...	OMIM:153400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Delayed skeletal maturation, Dysplastic sacrum, Death in childho...	OMIM:613320
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Osteopenia, Respiratory insufficiency, Carpal synostosis, Increased susceptibility...	OMIM:615349
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wormian bones, Wide anterior fontanel	OMIM:601356
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea	ORPHA:86812
Colchicine Poisoning	Hypotension, Cardiogenic shock, Oliguria, Congestive heart failure, Renal insufficiency, Arrhythm...	ORPHA:31824
Kaposi Sarcoma	Abnormal lung morphology, Venous insufficiency, Lymphedema	ORPHA:33276
Stickler Syndrome, Type Iv	Platyspondyly, Genu valgum, Joint hypermobility, Intervertebral space narrowing, Scoliosis	OMIM:614134
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Cardiomyopathy, Camptodactyly of finger, Umbilical hernia, Congenital...	ORPHA:373
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ...	ORPHA:1600
Thoracic Outlet Syndrome	Edema, Varicose veins	ORPHA:97330
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Abnor...	ORPHA:1876
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure	OMIM:620296
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Hypospadias, Aplasia/Hypoplasia of the lungs	ORPHA:1548
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Joint hypermobility, Wormian bones, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:619131
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Respiratory insufficiency, Wormian bones, Absent ossification of calvaria, Multipl...	OMIM:166210
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ...	OMIM:123700
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
Achondroplasia	Rhizomelia, Neonatal short-limb short stature, Brain stem compression, Hydrocephalus, Pulmonary h...	OMIM:100800
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy...	OMIM:231680
Renal Agenesis	Unilateral renal agenesis, Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Pro...	ORPHA:411709
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Abnormal urinary color, Congestive heart failure	ORPHA:90037
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Tetralogy of Fallot, Atrioventri...	ORPHA:508498
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar scoliosis, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion, Scapular winging	OMIM:617796
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Tularemia	Respiratory distress, Pneumonia, Pleural effusion	ORPHA:3392
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Retinal telan...	ORPHA:774
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Beaking of ...	OMIM:230600
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Limited elbow extension, Flat acetabular roof, Ovoid vertebr...	OMIM:608728
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Chiari malformation, Ventricular septal defect, Neonatal de...	OMIM:265380
Infantile Liver Failure Syndrome 3	Platyspondyly, Abnormal acetabulum morphology, Death in childhood, Hypoplastic vertebral bodies, ...	OMIM:618641
ERI1-related disease	Platyspondyly, Osteopenia, Delayed skeletal maturation, Abnormal heart morphology, Intrauterine g...	OMIM:608739
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Webbed neck, Pulmonary artery hypoplasia, Diaphragmatic event...	OMIM:620025
Dubin-Johnson Syndrome	Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome...	ORPHA:234
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Tetralogy of Fallot, Hamartoma of tongue, Complete atrioventricular canal defect, Ne...	OMIM:617925
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Gastroesophageal reflux, Duodenal atresia, Umbilical hernia, Campto...	ORPHA:2092
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Hypospadias, Edema, Congestive heart failure	ORPHA:2505
Spinocerebellar Ataxia Type 1	Abnormality of masticatory muscle, Skeletal muscle atrophy, Respiratory failure	ORPHA:98755
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Bifid uvula, Branchial fistula, Branchial cyst, Intestinal malrotation...	OMIM:113650
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Mirage Syndrome	Hypospadias, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Lymphopenia, Leukopenia...	OMIM:617053
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Recurrent respirato...	OMIM:211530
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency, Elbow flexion c...	OMIM:608836
Oculoauriculovertebral Spectrum With Radial Defects	Atrioventricular canal defect, Distal urethral duplication, Vesicoureteral reflux, Ectopic anus, ...	ORPHA:2549
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Myelopathy, Death in childhood, Torticollis, Respiratory failure	OMIM:617186
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P...	OMIM:607625
Kawasaki Disease	Vasculitis, Abnormal pulmonary interstitial morphology, Double outlet right ventricle with subpul...	ORPHA:2331
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Joint hypermobility, O...	OMIM:616507
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Thoracic kyphosis, Intervertebral space narrowing, F...	OMIM:609162
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Optic nerve hypoplasia, Optic disc coloboma, Abnormal heart valve morpholo...	ORPHA:536471
Foix-Alajouanine Syndrome	Cervical myelopathy, Myelopathy, Urinary retention, Lower limb muscle weakness, Functional abnorm...	ORPHA:79093
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Acute leukemia, Abnormal stomach morphology, Renal insufficiency, Shor...	ORPHA:281090
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ...	ORPHA:85450
Congenital Tracheal Stenosis	Hypoplastic left heart, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnorma...	ORPHA:141127
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Genu ...	ORPHA:174
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory failure	ORPHA:70578
Arima Syndrome	Hematuria, Tubulointerstitial fibrosis, Molar tooth sign on MRI, Polycystic kidney dysplasia, Eso...	OMIM:243910
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Hepatosplenomegaly, Large placenta, Ventricular septal defect, Shor...	ORPHA:96334
Snakebite Envenomation	Muscle fiber necrosis, Respiratory failure, Rhabdomyolysis	ORPHA:449285
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Macroglossia, Recurrent pneumonia, Myelopathy, Congestive heart failure, Hy...	OMIM:252500
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure	OMIM:229300
Renal Hypodysplasia/Aplasia 1	Proteinuria, Hypertension, Pulmonary hypoplasia	OMIM:191830
Chops Syndrome	Tracheomalacia, Aspiration pneumonia, Patent foramen ovale, Ventricular septal defect, Cervical C...	OMIM:616368
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort...	ORPHA:391665
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation	ORPHA:314655
Martsolf Syndrome 1	Cardiomyopathy, Congestive heart failure, Micropenis, Cardiac arrest, Recurrent respiratory infec...	OMIM:212720
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, High, narrow palate, Branchial fistula, Camptodactyly of finger, Ankyloglos...	ORPHA:261330
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Stomach cancer, Atrial septal defect, Acute lymphoblastic leukemia,...	ORPHA:1052
Pancreatic insufficiency, combined exocrine	Anasarca, Congestive heart failure	OMIM:260450
Restrictive Dermopathy 1	Natal tooth, Intrauterine growth retardation, Hydropic placenta, Short umbilical cord, Submucous ...	OMIM:275210
Mucopolysaccharidosis Type 1	Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart...	ORPHA:579
Dpagt1-Cdg	Optic atrophy, Abnormal cerebellum morphology, Diffuse optic disc pallor, Cerebellar hypoplasia, ...	ORPHA:86309
Myopathy, Centronuclear, X-Linked	Pyloric stenosis, Elevated circulating hepatic transaminase concentration, Arachnodactyly, Slende...	OMIM:310400
Greenberg Dysplasia	Rhizomelia, Disproportionate short-limb short stature, Abnormal lung lobation, Hepatosplenomegaly...	OMIM:215140
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Necrotizing myopathy, Supraventri...	ORPHA:423
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Orofaciodigital Syndrome Type 4	Severe short stature, High, narrow palate, Bifid uvula, Camptodactyly of finger, Intrauterine gro...	ORPHA:2753
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Genu valgum, Congenital diaphragmatic hernia, Mitral valve prolapse, Bicuspid aortic valve, Short...	OMIM:245600
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Abnormality of the vertebral column, Irregular acetabular roof, Abnormality of the...	ORPHA:93316
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Secundum atrial septal defect, Congestive heart failure, Intrauterine gr...	OMIM:608779
Kbg Syndrome	Delayed skeletal maturation, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis	OMIM:148050
Jeune Syndrome	Nephropathy, Nephronophthisis, Renal insufficiency, Aplasia/Hypoplasia of the lungs, Short stature	ORPHA:474
Achondrogenesis, Type Ia	Increased nuchal translucency, Protruding tongue, Short neck, Disproportionate short-trunk short ...	OMIM:200600
Desbuquois Dysplasia 2	Platyspondyly, Neonatal respiratory distress, Knee dislocation, Intrauterine growth retardation, ...	OMIM:615777
Pulmonary Alveolar Microlithiasis	Bronchiectasis, Bronchitis, Respiratory insufficiency, Subpleural interstitial thickening, Interl...	ORPHA:60025
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Spontaneous pneumothorax, Vertebral artery aneurysm, Umbilical hernia, D...	OMIM:619656
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Ventricular septal defect, Atrial septal defect, Small thenar eminence, Sh...	OMIM:607323
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Platyspondyly, Osteopenia, Delayed skeletal maturation, Thoracic platyspondyly, Genu valgum, Limi...	ORPHA:457395
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Dyskeratosis Congenita, Autosomal Dominant 3	Gastrointestinal hemorrhage, Aplastic anemia, Growth delay, Oral leukoplakia, Pancytopenia, Leuko...	OMIM:613990
Leigh Syndrome	Generalized aminoaciduria, Skeletal muscle atrophy, Methylmalonic aciduria, Congestive heart fail...	ORPHA:506
Fraser Syndrome 1	Renal hypoplasia, Myelomeningocele, Abnormal heart morphology, Abnormal small intestine morpholog...	OMIM:219000
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure, Hypoglycosylation of alpha-dystroglycan	OMIM:620166
Thymic Carcinoma	Palpebral edema, Abnormal vena cava morphology, Edema	ORPHA:99868
Lowry-Wood Syndrome	Platyspondyly, Elbow dislocation, Delayed skeletal maturation, Joint stiffness, Patellar dislocat...	ORPHA:1824
Graves Disease	Congestive heart failure	OMIM:275000
Duane Retraction Syndrome	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina ...	ORPHA:233
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste...	OMIM:618775
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges...	ORPHA:29072
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Platyspondyly, Osteopenia, Patellar dislocation, Delayed skeletal maturation, Increased vertebral...	OMIM:620663
Atelosteogenesis Type Ii	Rhizomelia, Rhizomelic arm shortening, Elbow flexion contracture, Bilateral cleft palate, Short n...	ORPHA:56304
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Irregular respiration	OMIM:604377
Seckel Syndrome 10	Ventricular hypertrophy, Glycosuria, Congestive heart failure, Abdominal aortic aneurysm, Hyperte...	OMIM:617253
Marfan Syndrome	Aortic regurgitation, Arterial dissection, Spontaneous pneumothorax, Skeletal muscle atrophy, Aor...	ORPHA:558
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure	OMIM:250940
Bor Syndrome	Multicystic kidney dysplasia, Branchial cyst, Vesicoureteral reflux, Ureteropelvic junction obstr...	ORPHA:107
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis	ORPHA:330021
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Icf Syndrome	Abnormality of neutrophils, Umbilical hernia, Lymphopenia, Communicating hydrocephalus, Protrudin...	ORPHA:2268
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Intrauterine growth retardation, Ventricular septal defect, Renal cyst, Heart m...	ORPHA:166035
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegal...	OMIM:620642
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal lung lobation, Congenital diaphragmatic hernia, Multiple unerupted teeth,...	ORPHA:2063
Brain-Lung-Thyroid Syndrome	Neonatal respiratory distress, Recurrent pneumonia, Patent foramen ovale, Ventricular septal defe...	ORPHA:209905
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:3226
Cole-Carpenter Syndrome 2	Platyspondyly, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Recurrent fract...	OMIM:616294
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Death in childhood, Weakness of facial musculature, Increased intram...	OMIM:220110
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Smith-Mccort Dysplasia 2	Platyspondyly, Hypoplasia of the odontoid process, Genu valgum, Enlarged interphalangeal joints, ...	OMIM:615222
Robinow Syndrome	Umbilical hernia, Abnormal heart morphology, Ventricular septal defect, Kyphoscoliosis, Pulmonary...	ORPHA:97360
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Platyspondyly, Osteopenia, Patellar dislocation, Delayed skeletal ...	OMIM:620662
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Platyspondyly, Hypoplasia of the odontoid process, Ivory epiphyses of the phalanges of the hand, ...	OMIM:226980
Mckusick-Kaufman Syndrome	Hydroureter, Hydronephrosis, Aganglionic megacolon, Polycystic kidney dysplasia, Anal atresia, Re...	OMIM:236700
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Intrauterine growth retardation, Decreased skull ossification	OMIM:300863
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Intrauterine growth retardation, Death in infancy	ORPHA:163966
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Decreased calvarial ossification, Joint hypermobility, Wormian bones, ...	OMIM:616229
Choanal Atresia	Respiratory distress, Recurrent respiratory infections	ORPHA:137914
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Cardiomyopathy, Congestive heart failure, Generalized limb muscle atrophy, Hand ...	ORPHA:98908
Bcard Syndrome	Platyspondyly, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, E...	OMIM:612394
Penile Agenesis	Hydroureter, Bilateral renal hypoplasia, Anorectal anomaly, Bilateral lung agenesis, Unilateral r...	ORPHA:49
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress	OMIM:620375
Osteogenesis Imperfecta, Type X	Platyspondyly, Osteopenia, Recurrent pneumonia, Genu valgum, Death in childhood, Thoracic scolios...	OMIM:613848
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l...	ORPHA:803
Acquired Methemoglobinemia	Respiratory distress, Dyspnea	ORPHA:464453
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor...	ORPHA:3097
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
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Angioedema, Congestive heart...	ORPHA:3260
Boomerang Dysplasia	Severe short-limb dwarfism, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypopla...	ORPHA:1263
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Poliomyelitis	Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu...	ORPHA:2912
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Recurrent fractures, Decreased skull ossification, Decreased calvarial...	OMIM:610915
Neurocardiofaciodigital Syndrome	Tetralogy of Fallot, Polydactyly, Atrial septal defect, Double inlet left ventricle, Optic disc p...	OMIM:619869
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death	OMIM:615709
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Hypertrophic cardiomyopathy, Pneumothorax, Mic...	OMIM:617403
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchioli...	ORPHA:90348
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Intrauterine growth retardation, Camptodactyly of toe, Cardiomegaly, Respiratory ...	ORPHA:158687
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Decreased muscle mass, Elbow contracture, Hip contracture, Patent for...	OMIM:617137
Dietary Iron Overload Disease	Abnormal heart morphology, Congestive heart failure	ORPHA:139507
Autosomal Dominant Spastic Paraplegia Type 10	Leg muscle stiffness, Lower limb muscle weakness, Distal lower limb amyotrophy, Dupuytren contrac...	ORPHA:100991
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart f...	OMIM:615895
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Hypoplasia of the odontoid process, Skeletal muscle atrophy, Delayed skeletal matu...	OMIM:300232
Aicardi Syndrome	Block vertebrae, Recurrent pneumonia, Butterfly vertebrae, Spina bifida, Hemivertebrae, Scoliosis	OMIM:304050
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure, Cardiomyopathy	ORPHA:445038
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic vertebral bodies, Short neck, Atrial septal defect, Coronal cleft vert...	ORPHA:2347
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Renal Tubular Dysgenesis	Hypotension, Anuria, Pulmonary hypoplasia	OMIM:267430
3P25.3 Microdeletion Syndrome	High, narrow palate, Broad thumb, Skeletal muscle atrophy, Broad hallux, Overlapping toe, Knee fl...	ORPHA:435638
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Riddle Syndrome	Neonatal asphyxia, Pneumonia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Arthritis, Ab...	ORPHA:420741
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Abnormality of the pulmonary vasculature, Proteinuria, Arrhy...	ORPHA:33001
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Webbed neck, Branchial fistula, Optic disc coloboma, Camptodactyly of ...	ORPHA:261337
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Functional abnormality of the bladder, Medial calci...	ORPHA:391487
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Facial edema, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerul...	ORPHA:567546
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Lumbar hyperlord...	OMIM:223800
Otopalatodigital Syndrome, Type Ii	Platyspondyly, Nonossified fifth metatarsal, Spondylolysis, Congenital hip dislocation, Elbow con...	OMIM:304120
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress	OMIM:608799
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Multicystic kidney dysplasia, Occipital encephalocele, Chiari m...	OMIM:164210
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Short neck, Lumbar hyperlordosis, Joint hypermobility	OMIM:612813
Listeriosis	Pneumonia, Septic arthritis, Stiff neck, Osteomyelitis, Rhabdomyolysis, Miscarriage, Myocarditis,...	ORPHA:533
Mitochondrial Complex I Deficiency, Nuclear Type 32	Patent urachus, Skeletal muscle atrophy, Respiratory failure, Death in childhood	OMIM:618252
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ventricular septal defect, Agene...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ventricular septal defect, Agene...	ORPHA:352665
Enlarged Parietal Foramina	Myelomeningocele, Venous malformation, Occipital encephalocele, Abnormal cerebral vein morphology	ORPHA:60015
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Hip contracture, Myopathy, Short neck, Protrusio acetabuli, Spina...	ORPHA:800
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Neonatal short-limb short stature, Natal tooth, Protruding tongue, Coarctation of aor...	ORPHA:50945
Acrorenal-Mandibular Syndrome	Narrow palate, Elbow flexion contracture, Abnormality of the ureter, Intrauterine growth retardat...	OMIM:200980
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Type 2 muscle fiber atrophy, Respiratory failure, Respiratory insufficiency	OMIM:613845
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Branchiogenic-Deafness Syndrome	Short stature, Branchial fistula, Branchial cyst, Submucous cleft hard palate	OMIM:609166
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, Short nec...	OMIM:300868
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Delayed skeletal maturation, Limited elbow extension, Carpal bone hypo...	OMIM:616723
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Death in infancy, Kyphoscoliosis, Dislocated radial head, ...	OMIM:617425
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Pneumonia, Rheumatoid arthritis, Lumbar hyperlordosis, Sclerosis of skull base, Jo...	OMIM:607944
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pyloric stenosis, Postnatal growth retardation, Intrauterine growth retardation, Contracture of t...	ORPHA:83617
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Abnormal urinary color, Congestive heart failure	ORPHA:90033
Fibrochondrogenesis 1	Platyspondyly, Joint contracture of the hand, Patent foramen ovale, Short neck, Stillbirth, Campt...	OMIM:228520
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure	OMIM:618233
Hall-Riggs Syndrome	Platyspondyly, Joint stiffness, Scoliosis, Delayed skeletal maturation	ORPHA:2107
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Urethral atresia, Hydrocephalus, Asplenia, Anal atresia, Periphe...	OMIM:273395
Fraser Syndrome	Anal stenosis, Umbilical hernia, Myelomeningocele, Abnormal lung lobation, Anorectal anomaly, Enc...	ORPHA:2052
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Delayed skeletal maturation, Respiratory insufficiency, Emphysema, Intrauter...	OMIM:613658
Acro-Renal-Ocular Syndrome	Tetralogy of Fallot, Vertebral fusion, Vertebral segmentation defect	ORPHA:959
Livedoid Vasculopathy	Ischemic stroke, Venous insufficiency, Telangiectasia of the skin, Varicose veins, Abnormal capil...	ORPHA:542643
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract...	OMIM:619461
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fractures, Bowing...	OMIM:166220
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Pleural effusion, Respiratory failure	ORPHA:542323
Sillence Syndrome	Platyspondyly, Abnormal vertebral morphology, Intervertebral disk degeneration, Camptodactyly, Fl...	ORPHA:3168
Erythrocytosis, Familial, 2	Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins	OMIM:263400
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Umbilical hernia, ...	ORPHA:261318
Geleophysic Dysplasia 3	Pneumonia, Delayed skeletal maturation, Limited elbow movement, Respiratory failure, Limited wris...	OMIM:617809
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress	ORPHA:1145
Marfan Syndrome	Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Decr...	OMIM:154700
Autosomal Recessive Amelia	Hypoplasia of penis, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:1027
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Carpal synostosis, Tetralogy of Fallot, Atrioventricular canal defect, Patellar ...	OMIM:274000
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Platyspondyly, Osteopenia, Delayed skeletal maturation, Lumbar hyperlordosis, Genu valgum, Limite...	OMIM:271510
Acromesomelic Dysplasia 4	Platyspondyly, Umbilical hernia, Thoracic platyspondyly, Lumbar hyperlordosis, Genu valgum, Thora...	OMIM:619636
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Recurrent lower resp...	OMIM:618426
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure	ORPHA:75564
Williams Syndrome	Mitral regurgitation, Myopathy, Ventricular septal defect, Mitral valve prolapse, Bicuspid aortic...	ORPHA:904
Fibrochondrogenesis 2	Platyspondyly	OMIM:614524
Periventricular Nodular Heterotopia	Abnormal heart valve morphology, Gastroesophageal reflux, Pyloric stenosis	ORPHA:98892
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Joint dislocation, Thoracic platyspondyly, Genu valgum, Li...	OMIM:618019
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv...	OMIM:615067
Apert Syndrome	Cervical C5/C6 vertebrae fusion, Respiratory insufficiency, Vertebral segmentation defect	ORPHA:87
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ...	OMIM:614816
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent upper respiratory tract infections, Congestive heart failure, Tricuspid regurgitation, ...	ORPHA:508542
Wolf-Hirschhorn Syndrome	Hip dislocation, Abnormal form of the vertebral bodies, Decreased muscle mass, Delayed skeletal m...	OMIM:194190
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Osteopenia, Hypoplastic acetabulae, Intrauterine growth retardation, Butterfly ver...	OMIM:620076
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections	OMIM:619383
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Short stature, P...	OMIM:208500
Faciodigitogenital Syndrome, Autosomal Recessive	Camptodactyly, Vertebral fusion, Hyperextensible hand joints	OMIM:227330
Dysosteosclerosis	Platyspondyly, Osteopenia, Facial paralysis, Sclerosis of hand bone, Sclerosis of skull base, Inc...	OMIM:224300
Gm1 Gangliosidosis Type 1	Platyspondyly, Cardiomyopathy, Beaking of vertebral bodies T12-L3, Aspiration pneumonia, Intraute...	ORPHA:79255
Costello Syndrome	Tracheomalacia, Respiratory insufficiency, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ve...	OMIM:218040
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t...	OMIM:602782
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Ascites, Intrauterine growth retardation, 4-Hydroxyphenylpyruvic acidur...	OMIM:617156
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Abnormal lung lobation, Intestinal malrotation, Encephalocele, Cerebellar hypop...	ORPHA:2166
Renal Nutcracker Syndrome	Dilatation of mesenteric artery, Renal artery stenosis, Hematuria, Proteinuria, Vulval varicose v...	ORPHA:71273
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Umbilical hernia, Mit...	OMIM:608328
Genitopatellar Syndrome	Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Delayed eruption of teet...	OMIM:606170
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Respiratory failure, Cardiomyopathy	ORPHA:88618
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Platyspondyly, Delayed epiphyseal ossification, Cuboid-shaped vertebral bodies, Anterior scallopi...	OMIM:611717
Zttk Syndrome	Aortic regurgitation, Optic atrophy, Unilateral renal agenesis, Bifid uvula, Horseshoe kidney, In...	OMIM:617140
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Griscelli Syndrome	Hepatitis, Splenomegaly, Encephalocele, Hydrocephalus, Hepatomegaly, Jaundice, Pyloric stenosis	ORPHA:381
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Vascular granular osmiophilic material deposition, Urinary incontinence, Stroke, Varicose veins, ...	OMIM:125310
Holzgreve Syndrome	Webbed neck, Aplasia/Hypoplasia of the tongue, Intrauterine growth retardation, Aplasia/Hypoplasi...	ORPHA:2167
Osteopetrosis, Autosomal Recessive 5	Limb hypertonia, Osteopetrosis, Stillbirth, Increased bone mineral density, Hip subluxation, Faci...	OMIM:259720
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Atelectasis, Respiratory insufficiency, Death in childhood, Cardiomegaly...	OMIM:618278
Alfadhel Syndrome	Nasal flaring	OMIM:620655
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Penile hypospadias, Myopathy, L...	OMIM:242840
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb amyotrophy, Respiratory failure, Abnormal morphology of musculature of pharynx	ORPHA:280210
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:3346
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomy...	OMIM:613673
Spondyloperipheral Dysplasia	Platyspondyly, Acetabular spurs, Limited elbow extension, Short neck, Flat acetabular roof, Kypho...	OMIM:271700
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Garg-Mishra Progeroid Syndrome	Platyspondyly, Persistent open anterior fontanelle, Ovoid vertebral bodies	OMIM:620601
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Olig...	ORPHA:163956
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Apert Syndrome	Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Coronal craniosynostosis, Synostosi...	OMIM:101200
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Generalized Pustular Psoriasis	Renal insufficiency, Pedal edema, Congestive heart failure	ORPHA:247353
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis	ORPHA:2978
Branchiootic Syndrome	Facial palsy, Branchial fistula, Cleft palate	ORPHA:52429
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Branchial cyst, Ventricular septal defect, Short neck, D...	ORPHA:508488
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Atherosclerosis, Congestive heart failure...	OMIM:203800
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor...	ORPHA:2494
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Infantile Krabbe Disease	Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness	ORPHA:206436
Metachromatic Leukodystrophy	Abnormal stomach morphology, Decreased nerve conduction velocity, Abnormal duodenum morphology, A...	ORPHA:512
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Saul-Wilson Syndrome	Platyspondyly, Hypoplasia of the odontoid process, Intrauterine growth retardation, Madelung defo...	OMIM:618150
Nijmegen Breakage Syndrome	Recurrent pneumonia, Skeletal muscle atrophy, Short neck, Recurrent sinopulmonary infections, Rec...	ORPHA:647
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Cardiorespiratory arrest, Delayed skeletal maturation, Respiratory insufficiency, ...	ORPHA:93317
Cardiospondylocarpofacial Syndrome	Delayed skeletal maturation, Carpal synostosis, Muscular ventricular septal defect, Fusion of mid...	OMIM:157800
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615503
Diamond-Blackfan Anemia 1	Renal hypoplasia, Congestive heart failure, Intrauterine growth retardation, Ventricular septal d...	OMIM:105650
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Craniofacial osteosclerosis, Increased skull ossificatio...	OMIM:618476
Malignant Atrophic Papulosis	Abnormal pericardium morphology, Abnormal myocardium morphology, Respiratory failure, Pleural eff...	ORPHA:679
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Secundum atrial septal defect, Recurrent respirator...	OMIM:612541
Primary Sclerosing Cholangitis	Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Ascites, Pleural effusion, Po...	ORPHA:171
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Pneumonia	ORPHA:26793
Moebius Syndrome	Respiratory distress	OMIM:157900
Schimke Immunoosseous Dysplasia	Platyspondyly, Osteopenia, Shallow acetabular fossae, Intrauterine growth retardation, Lumbar hyp...	OMIM:242900
Alobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Aspiration pneumonia, Abnormal heart morphology, Abnormal b...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Aspiration pneumonia, Abnormal heart morphology, Abnormal b...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Aspiration pneumonia, Abnormal heart morphology, Abnormal b...	ORPHA:93924
Semilobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Aspiration pneumonia, Abnormal heart morphology, Abnormal b...	ORPHA:220386
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal heart morphology, Emphysema, Intrauterine growth retardation, Lumbar hyperlordosis, Meto...	ORPHA:500150
Osteogenesis Imperfecta, Type I	Osteopenia, Increased susceptibility to fractures, Biconcave flattened vertebrae, Mitral valve pr...	OMIM:166200
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency	OMIM:618329
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Cirrhosis, Hepatomegaly,...	ORPHA:779
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Abnormal heart morphology, Congenital diaphragmatic hernia, Abnormal aor...	ORPHA:261197
Aicardi Syndrome	Block vertebrae, Scoliosis, Butterfly vertebrae	ORPHA:50
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aortic root aneurysm, Congestive heart failure, Abnormal heart morphology, Aspiration pneumonia, ...	ORPHA:444077
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Disproportionate short-limb short stature, Agenesis of corpus callosum, Hydrone...	ORPHA:93271
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Recurrent lower respiratory tract infections, Exertional dyspnea, Hypoventi...	ORPHA:98915
H Syndrome	Upper eyelid edema, Facial telangiectasia, Abnormal cardiovascular system physiology, Recurrent p...	ORPHA:168569
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Neonatal death, Respiratory arrest, Patent ductus arteriosus, Respiratory failure	OMIM:617248
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Abnormal large intestine morphology, Skeletal muscle atrophy, Intestinal polyposis...	ORPHA:109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy, Respiratory failure	OMIM:616538
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, Supraventr...	OMIM:181270
Opsismodysplasia	Hypoplasia of the odontoid process, Respiratory insufficiency, Hypoplastic vertebral bodies, Shor...	OMIM:258480
Menkes Disease	Gastrointestinal hemorrhage, Umbilical hernia, Intrauterine growth retardation, Arterial stenosis...	ORPHA:565
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Abetalipoproteinemia	Osteopenia, Myopathy, Kyphoscoliosis, Distal lower limb muscle weakness, Cardiomegaly, Respirator...	ORPHA:14
Ellis Van Creveld Syndrome	Acute leukemia, Neonatal short-limb short stature, Hydroureter, Delayed eruption of teeth, Emphys...	ORPHA:289
Branchiogenic Deafness Syndrome	Short stature, Branchial fistula, Branchial cyst, Cleft palate	ORPHA:50815
Mogs-Cdg	Respiratory distress, Pulmonary edema, Apnea, Hypoventilation	ORPHA:79330
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure	ORPHA:2707
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia	OMIM:607143
Macrocephaly-Intellectual Disability-Autism Syndrome	Penile freckling, Intestinal polyposis, Lymphoid nodular hyperplasia	ORPHA:210548
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Res...	OMIM:252010
Nocardiosis	Pneumonia, Abnormal heart valve morphology, Emphysema, Osteomyelitis, Pleural effusion, Pneumotho...	ORPHA:31204
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Rickets, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Osteomal...	ORPHA:2636
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Genu valgum, Kyphoscoliosis, Carpal bone hypoplasia	OMIM:184253
Pallister-Killian Syndrome	Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Short neck, At...	OMIM:601803
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Skeletal muscle atrophy, Abnormal cerebral vas...	ORPHA:79474
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Platyspondyly, Hip subluxation, Carpal synostosis, Dislocated radial head, Pathologic fracture, G...	OMIM:271640
Bickerstaff Brainstem Encephalitis	Pneumonia, Facial paralysis, Limb muscle weakness, Respiratory tract infection, Weakness of facia...	ORPHA:79138
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal cerebral vascular morphology, Telangiectasia of the skin, Abnormal venous morphology, En...	ORPHA:276280
Autosomal Dominant Hypocalcemia	Hypotension, Nephrocalcinosis, Congestive heart failure, Arrhythmia, Hypercalciuria, Hypermagnesi...	ORPHA:428
Wolf-Hirschhorn Syndrome	Optic atrophy, Abnormal heart valve morphology, Intrauterine growth retardation, Congenital diaph...	ORPHA:280
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia	ORPHA:2617
Congenital Tufting Enteropathy	Optic disc coloboma, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small...	ORPHA:92050
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Joint contracture of the hand, Broad thumb, Clinodactyly, Anteriorl...	OMIM:305450
Incontinentia Pigmenti	Congestive heart failure, Camptodactyly of finger, Umbilical hernia, Cerebral ischemia, Telangiec...	ORPHA:464
Clapo Syndrome	Varicose veins, Venous malformation, Lymphedema	ORPHA:168984
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress	OMIM:619272
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Gastroesophageal reflux, Natal tooth, Branchial cyst, Optic disc coloboma, Ankyloglo...	OMIM:620186
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Pneumonia, Osteopenia, Umbilical hernia, Talipes valgus, Joint stiffness, Genu val...	ORPHA:309282
Aceruloplasminemia	Torticollis, Congestive heart failure	ORPHA:48818
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Camptodactyly of finger, Absent hand, Ventricular septal defect, ...	ORPHA:3138
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Recurrent respiratory infections, Ventricular septal defect, Atr...	OMIM:147791
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Gastroesophageal reflux, Branchial anomaly, Pelvic kidney, Recurrent respiratory infections, Dysp...	ORPHA:466950
Farber Disease	Respiratory distress, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary ...	ORPHA:333
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reti...	ORPHA:90038
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat...	OMIM:613795
Gitelman Syndrome	Rhabdomyolysis, Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Ren...	ORPHA:358
22Q11.2 Deletion Syndrome	Ventricular septal defect, Atrial septal defect, Hypospadias, Patent ductus arteriosus, Polycysti...	ORPHA:567
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Platyspondyly, Recurrent pneumonia, Osteopenia, Joint dislocati...	OMIM:225400
Verloove Vanhorick-Brubakk Syndrome	Aplasia/Hypoplasia of the lungs, Cleft palate	ORPHA:3429
Juvenile Polyposis Syndrome	Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Ju...	ORPHA:2929
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure	ORPHA:3240
Microphthalmia, Syndromic 1	High, narrow palate, Hypospadias, Joint contracture of the hand, Renal hypoplasia, Hydroureter, W...	OMIM:309800
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Pyelonephritis, Torticollis, Varicose veins	OMIM:314300
Cryptococcosis	Pneumonia, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, Dyspnea	ORPHA:1546
Geleophysic Dysplasia 1	Aortic valve stenosis, Joint contracture of the hand, Congestive heart failure, Camptodactyly of ...	OMIM:231050
Bacterial Toxic-Shock Syndrome	Respiratory distress, Tachypnea, Pneumonia, Respiratory tract infection	ORPHA:36234
Viss Syndrome	Aortic root aneurysm, Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Contra...	OMIM:619472
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Persistent cloaca, Patent ductus arteriosus, Pulmonary hypoplasia	ORPHA:1112
Ear-Patella-Short Stature Syndrome	Elbow dislocation, Delayed skeletal maturation, Camptodactyly of finger, Intrauterine growth reta...	ORPHA:2554
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Bloom Syndrome	Pneumonia, Bronchitis, Intrauterine growth retardation, Respiratory tract infection, Respiratory ...	ORPHA:125
Rodrigues Blindness	Nasal flaring	OMIM:268320
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Congestive heart failure, Dilatation of the cerebral artery, Intrauterine g...	OMIM:619475
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Postnatal growth retardation, Birth length less than...	ORPHA:3404
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Pleural effusion, Back pain, Pulmonary edema, Respiratory failure	ORPHA:340
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis, Neonatal death	OMIM:619817
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Vertebral wedging, Decreased calvarial ossification	OMIM:617866
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Toe clinodactyly, Toe syndactyly, Annular pancreas...	ORPHA:2308
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Chromosome 16P13.3 Duplication Syndrome	Tetralogy of Fallot, Cervical C5/C6 vertebrae fusion, Facial hypotonia, Ventricular septal defect...	OMIM:613458
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Vascular dilatation, Varicose veins, Camptodactyly, Pulmonic stenosis	OMIM:618343
Congenital Myasthenic Syndrome	Apneic episodes precipitated by illness, fatigue, stress, Recurrent respiratory infections, Sudde...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Apneic episodes precipitated by illness, fatigue, stress, Recurrent respiratory infections, Sudde...	ORPHA:98914
Fraser Syndrome 2	Short neck, Respiratory failure	OMIM:617666
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagi...	OMIM:147060
Spondyloenchondrodysplasia	Platyspondyly, Pneumonia, Lower limb pain, Arthritis, Juvenile rheumatoid arthritis, Kyphosis	ORPHA:1855
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy...	OMIM:182250
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Abnormal pattern of respiration, Irregular respiration	ORPHA:79139
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Dilatation of the cerebral artery, Arteria...	OMIM:130050
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Congestive heart failure, ...	OMIM:256040
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Congenital diaphragmatic hernia, Mitral valv...	ORPHA:2556
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Glossoptosis, Hypoplasia of the thymus, Tracheoesophageal fistu...	ORPHA:861
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Supraventricular arr...	ORPHA:91347
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Spinal dysraphism, Venous malformation	OMIM:612918
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Elbow dislocation, Death in childhood, Hip contracture, Ventricu...	OMIM:210710
Dominant Beta-Thalassemia	Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure, Hypoplasia of the muscu...	ORPHA:231226
Marden-Walker Syndrome	Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal ...	ORPHA:2461
Q Fever	Respiratory distress, Abnormal pulmonary interstitial morphology, Pneumonia, Pleural effusion	ORPHA:781
Tetraamelia Syndrome 2	Ankyloglossia, Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins, M...	OMIM:618021
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea	ORPHA:79241
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Broad neck, Abnormal lung lobation, Intrauterine growth retardatio...	OMIM:236680
Cocaine Intoxication	Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary edema, Tachypnea, Pneumothorax, Hype...	ORPHA:90068
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Chronic Granulomatous Disease	Pyloric stenosis, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Recurrent respiratory in...	ORPHA:379
Holt-Oram Syndrome	Elbow dislocation, Hypoplasia of deltoid muscle, Mitral valve prolapse, Ventricular septal defect...	OMIM:142900
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Abnormal vena cava morphology, Prominent veins on trunk	ORPHA:97289
Spondyloocular Syndrome	Platyspondyly, Osteopenia, Mitral valve prolapse, Femur fracture, Atrial septal defect, Dysplasti...	OMIM:605822
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Joint stiffness, Severe platyspondyly, Scoliosis, Ovoid vertebral bodies	OMIM:608940
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress	ORPHA:2519
Sponastrime Dysplasia	Platyspondyly, Delayed epiphyseal ossification, Recurrent pneumonia, Shallow acetabular fossae, A...	ORPHA:93357
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections	OMIM:300968
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Prominent veins on trunk, Umbilical hernia, Mitral valve prolapse, Carotid ...	ORPHA:536532
Varicose Veins	Varicose veins	OMIM:192200
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Dilated cardiomyopathy, Skeletal muscle atrophy, Distal amyotro...	ORPHA:273
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Gastrointestinal carcinoma, Aortic dissection, Mitral regurgitation, Mit...	OMIM:175050
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Thauvin-Robinet-Faivre Syndrome	Bifid ureter, Mitral valve prolapse, Ventricular septal defect, Renal cyst, Varicose veins, Macro...	OMIM:617107
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Congenital pyloric atresia, Esophageal atresia	OMIM:226730
Proteus-Like Syndrome	Bronchogenic cyst, Venous insufficiency	ORPHA:2969
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Pneumonia, Interstitial pneumonitis	ORPHA:37042
Liposarcoma	Varicose veins	ORPHA:69078
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Toxic Epidermal Necrolysis	Respiratory distress, Abnormal pleura morphology, Recurrent respiratory infections	ORPHA:537
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Delayed skeletal maturation, Pathologic fracture, Spondylolisthesis...	OMIM:208400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Stickler Syndrome	Platyspondyly, Hip dislocation, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, J...	ORPHA:828
Branchiooculofacial Syndrome	Gastroesophageal reflux, Elbow flexion contracture, Postnatal growth retardation, Intrauterine gr...	OMIM:113620
Lujo Hemorrhagic Fever	Respiratory distress, Atelectasis	ORPHA:319213
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea	ORPHA:100050
Beta-Thalassemia Major	Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure, Hypoplasia of the muscu...	ORPHA:231214
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress	OMIM:217980
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Hip dislocation, Atelectasis, Respiratory insufficiency, Umbilical hernia, Osteoma...	ORPHA:534
Mgat2-Cdg	Respiratory distress, Recurrent upper and lower respiratory tract infections	ORPHA:79329
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Occipital Horn Syndrome	Platyspondyly, Synostosis of joints, Hip dislocation, Osteopenia, Rickets, Delayed cranial suture...	ORPHA:198
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Mitral valve pro...	ORPHA:500095
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Osteopenia, Scoliosis, Large knee	OMIM:619269
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Scoliosis, Ovoid vertebral bodies	ORPHA:85167
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Dilated cardiomyopathy, Pneumothorax, Osteoporosis, Respiratory failure	ORPHA:79404
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea	ORPHA:17
Meier-Gorlin Syndrome 1	Respiratory distress, Emphysema, Death in infancy	OMIM:224690
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Occipital Horn Syndrome	Platyspondyly, Persistent open anterior fontanelle, Genu valgum, Limited elbow extension, Joint h...	OMIM:304150
Beta-Thalassemia Intermedia	Proximal tubulopathy, Pulmonary arterial hypertension, High-output congestive heart failure	ORPHA:231222
Neuromuscular Oculoauditory Syndrome	Respiratory distress	OMIM:618733
Pfeiffer Syndrome Type 3	Respiratory distress	ORPHA:93260
Myhre Syndrome	Platyspondyly, Joint stiffness, Intrauterine growth retardation, Abnormal cardiac septum morpholo...	ORPHA:2588
Proteus Syndrome	Pulmonary cyst, Long penis, Pulmonary embolism, Arteriovenous malformation, Decreased muscle mass...	ORPHA:744
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Friedreich Ataxia 2	Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro...	OMIM:601992
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections	ORPHA:177907
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Platyspondyly, Recurrent pneumonia, Hypoplasia of the odontoid process, Atlantoaxial instability,...	OMIM:271665
Neuroblastoma	Respiratory distress	ORPHA:635
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Polycythemia, Facial telangiectasia...	OMIM:600376
Niemann-Pick Disease Type C	Aspiration pneumonia, Respiratory insufficiency, Aplasia/Hypoplasia of the abdominal wall muscula...	ORPHA:646
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Joint hypermobility, Carpal bone hypoplasia, Short neck, Advanced ossification of ...	OMIM:610442
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress	OMIM:123790
Tuberous Sclerosis Complex	Respiratory tract infection, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Respiratory fai...	ORPHA:805
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, A...	ORPHA:51608
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea	ORPHA:2131
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Dextrocardia, Pyloric stenosis	ORPHA:1571
African Trypanosomiasis	Urinary incontinence, Second degree atrioventricular block, Third degree atrioventricular block, ...	ORPHA:3385
Kyphomelic Dysplasia	Platyspondyly, Flat acetabular roof, Limitation of joint mobility, Pterygium	OMIM:211350
Vascular Ehlers-Danlos Syndrome	Mitral valve prolapse, Hypospadias, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac a...	ORPHA:286
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Recurrent pneumonia, Pneumonia	OMIM:102700
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Epistaxis, Aortic root aneurysm, Umbilical hernia, Cystocele, Mitral valve p...	ORPHA:285
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress	ORPHA:255210
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Hip dislocation, Rickets, Wrist swelling, Camptodac...	OMIM:309000
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Sepsis In Premature Infants	Dyspnea, Nasal flaring	ORPHA:90051
Coccidioidomycosis	Respiratory distress, Pneumonia, Exudative pleural effusion, Pleural empyema	ORPHA:228123
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Marshall Syndrome	Platyspondyly, Knee osteoarthritis	OMIM:154780
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Biventricular hypertrophy, Overlapping toe, Median cleft palate, Mitral valve pro...	OMIM:617402
Adnp Syndrome	Respiratory distress, Recurrent upper respiratory tract infections	ORPHA:404448
Glomuvenous Malformation	Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation	ORPHA:83454
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Calcification of the aorta, Spontaneous, recu...	ORPHA:2072
Shwachman-Diamond Syndrome 1	Respiratory distress	OMIM:260400
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections	OMIM:615273
Congenital Alveolar Capillary Dysplasia	Respiratory distress	ORPHA:210122
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Kasabach-Merritt Phenomenon	Respiratory distress, Hypopnea	ORPHA:2330
Osteoglophonic Dysplasia	Platyspondyly, Osteopenia, Camptodactyly of finger, Increased susceptibility to fractures, Short ...	OMIM:166250
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Limited elbow extension,...	OMIM:300106
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress	OMIM:256810
Ulnar-Mammary Syndrome	Short 5th toe, Ventricular septal defect, Absent radius, Anal atresia, Short 5th finger, Postaxia...	OMIM:181450
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Platyspondyly, Enlargement of the ankles, Recurrent pneumonia, Secundum atrial septal defect, Abn...	ORPHA:99646
Campomelic Dysplasia	Respiratory distress, Recurrent lower respiratory tract infections, Recurrent upper respiratory t...	OMIM:114290
Arboleda-Tham Syndrome	Respiratory distress, Recurrent aspiration pneumonia, Recurrent respiratory infections	OMIM:616268
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress	ORPHA:79282
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Sclerosis of skull base, Increased intervertebral space, Ventricular septal defect	OMIM:619727
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon, Poorly formed metencephalon	OMIM:601374
Witteveen-Kolk Syndrome	High, narrow palate, Hypospadias, Gastroesophageal reflux, Branchial fistula, Microphallus, Male ...	OMIM:613406
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Gastric hypertrophy, Metacarpal periosteal thickening, Metatarsal periosteal...	OMIM:161700
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Platyspondyly, Short neck, Atrial septal defect, Myocarditis, Fl...	OMIM:250220
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:614748
Carney Complex	Congestive heart failure, Dilatation of the cerebral artery, Stroke, Cardiac myxoma, Hypertension	ORPHA:1359
Microphthalmia With Limb Anomalies	Horseshoe kidney, Camptodactyly of 2nd-5th fingers, Venous insufficiency	ORPHA:1106
Rubinstein-Taybi Syndrome 1	Respiratory distress, Recurrent upper respiratory tract infections, Respiratory tract infection	OMIM:180849
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion	OMIM:211380
Feingold Syndrome 1	Accessory spleen, Tricuspid stenosis, Annular pancreas, Polysplenia, Short toe, Short thumb, Shor...	OMIM:164280
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress	OMIM:305100
Oculopharyngodistal Myopathy 1	Respiratory distress	OMIM:164310
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Encephalocele, Pylo...	OMIM:618458
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Congenital pyloric atresia, Flexion contracture	ORPHA:158684
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Delayed skelet...	ORPHA:2273
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring	ORPHA:466943
Leptospirosis	Respiratory distress, Pulmonary hemorrhage, Pleural effusion	ORPHA:509
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea	ORPHA:3206
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Alström Syndrome	Chronic kidney disease, Glomerulonephritis, Urinary incontinence, Abnormal coronary artery physio...	ORPHA:64
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Pulmonary artery stenosis	ORPHA:2255
Feingold Syndrome Type 1	Toe syndactyly, Tricuspid stenosis, Short thumb, Abnormal heart morphology, Short middle phalanx ...	ORPHA:391641
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Eisenmenger Syndrome	Respiratory distress, Aortopulmonary window, Exertional dyspnea	ORPHA:97214
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Pneumonia	ORPHA:95455
Plague	Respiratory distress, Acute infectious pneumonia	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
Norrie Disease	Venous insufficiency	ORPHA:649
Pmm2-Cdg	Platyspondyly, Osteopenia, Aspiration pneumonia, Hypertrophic cardiomyopathy, Multiple joint cont...	ORPHA:79318

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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