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Gene: Bmpr2 MGI:1095407

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

bone morphogenetic protein receptor type 2

Synonyms:

BMP-2, 2610024H22Rik, BMPRII, BMPR-II

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 Bmpr2 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 Bmpr2 (2 diseases)
Human diseases predicted to be associated with Bmpr2 (895 diseases)

The table below shows human diseases associated to Bmpr2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pulmonary Venoocclusive Disease 1, Autosomal Dominant		Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo...	OMIM:265450
Pulmonary Hypertension, Primary, 1		Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600

The table below shows human diseases predicted to be associated to Bmpr2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo...	OMIM:265450
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ...	OMIM:234810
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema	OMIM:178400
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl...	OMIM:613255
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp...	OMIM:106700
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Cardiomyopathy, Dilated, 2C	Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch...	OMIM:618189
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Heparin-Induced Thrombocytopenia	Cerebral ischemia, Myocardial infarction, Pulmonary embolism	ORPHA:3325
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple...	OMIM:612387
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Abnormal...	ORPHA:70588
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ...	ORPHA:99105
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death,...	OMIM:619751
Pulmonary Alveolar Microlithiasis	Bronchitis, Right ventricular failure, Respiratory tract infection, Nonproductive cough, Pleural ...	ORPHA:60025
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ...	ORPHA:860
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism	ORPHA:82
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Syncop...	ORPHA:422
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm...	ORPHA:228116
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary arterial hypertension	OMIM:619003
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Atrial septal defect, Trunc...	ORPHA:401935
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru...	ORPHA:2414
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional ...	OMIM:265400
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ...	ORPHA:163665
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, ...	ORPHA:2516
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fibrosis, Mucosal telangie...	ORPHA:220402
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Renal hypoplasia	OMIM:616589
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Atrial Septal Defect 9	Pulmonary arterial hypertension	OMIM:614475
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr...	ORPHA:1570
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p...	ORPHA:70591
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia	OMIM:265150
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Birk-Aharoni Syndrome	Duplicated collecting system, Muscular ventricular septal defect, Micropenis	OMIM:620071
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema...	ORPHA:199241
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl...	OMIM:604864
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Scimitar Syndrome	Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle,...	ORPHA:185
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc...	OMIM:615996
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal rib morphology, Abnormal tricuspid valv...	ORPHA:1354
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Left-to-right shunt, Congestive heart failure, Left ventricular...	ORPHA:99050
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:612336
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini...	ORPHA:662
Microphthalmia, Syndromic 9	Renal malrotation, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arte...	OMIM:601186
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi...	ORPHA:97214
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ...	ORPHA:60033
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect	OMIM:608681
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Hemothorax, Heart murmur, T...	ORPHA:2038
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect	OMIM:620062
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa...	ORPHA:563
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi...	OMIM:615415
Keutel Syndrome	Recurrent respiratory infections, Pulmonary artery stenosis, Pulmonary arterial hypertension, Rec...	ORPHA:85202
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni...	OMIM:617516
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great...	OMIM:231060
Takayasu Arteritis	Myocardial infarction, Vasculitis, Arterial stenosis, Hypertension, Ascending tubular aorta aneur...	ORPHA:3287
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Orthopnea, Tachycardia, ...	ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ...	OMIM:115197
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ...	ORPHA:3426
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Myocarditis, ...	ORPHA:81
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip...	OMIM:607598
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou...	OMIM:601344
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Timothy Syndrome	Prolonged QT interval, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventricular block, Br...	OMIM:601005
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary int...	OMIM:620233
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormality of the pulmonary artery, Respiratory insufficiency, Abnormal aortic morphology	ORPHA:1166
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu...	ORPHA:1329
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Respiratory insufficie...	ORPHA:90308
Braddock Syndrome	Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis	ORPHA:52047
Gaucher Disease, Type I	Epistaxis, Dyspnea, Abnormal pulmonary interstitial morphology, Hypertension, Mitral regurgitatio...	OMIM:230800
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Emanuel Syndrome	Torticollis, Recurrent urinary tract infections, Truncus arteriosus, Ventricular septal defect, C...	OMIM:609029
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia	ORPHA:1208
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Pulmonary arterial hypertension,...	OMIM:212350
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu...	ORPHA:391641
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Double outlet right ventricle, Hypoplastic left heart, Pu...	OMIM:220210
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra...	OMIM:600001
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven...	ORPHA:99095
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly	OMIM:618804
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Suprav...	ORPHA:75249
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septal defects, Limb hy...	OMIM:620070
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Osteogenesis Imperfecta, Type Vi	Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodies, Beaki...	OMIM:613982
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Pulmonic stenosis, Camp...	OMIM:179613
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Tachypnea, Hypertension, Pulmonary arterial hyper...	OMIM:613834
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb...	ORPHA:2064
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Death in infancy, Pulmonary arterial hypertension, Death in childhood	OMIM:619064
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of ...	ORPHA:1926
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Small thenar eminence, Hyd...	OMIM:613390
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo...	OMIM:618901
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Posterior rib fusion, Atrial septal defect, Neonat...	OMIM:265380
Acrocardiofacial Syndrome	Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Hypospa...	ORPHA:2008
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension	OMIM:619059
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification, ...	OMIM:215045
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Dyspnea, Congestive heart failure, Pulmonary fibrosis, Pulmonary arte...	ORPHA:220393
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Muscular ventricular septal defect, Dilated cardiomyopathy, Perineal hypospa...	ORPHA:66634
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension	OMIM:300887
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Holt-Oram Syndrome	Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Joint stiffness,...	ORPHA:392
Emanuel Syndrome	Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma...	ORPHA:96170
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Radioulnar synostosis, Abnormal rib morphology, Pectus carinatum	ORPHA:3268
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Spina bif...	OMIM:184400
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch	OMIM:616920
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Pulmonary arterial hypertension, Recurrent upper respiratory tract infections	ORPHA:391372
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation,...	ORPHA:980
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a...	ORPHA:2255
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero...	ORPHA:2790
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T...	OMIM:192430
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Renal agenesis, Unilateral renal agenesis	OMIM:619227
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Cardiac-Urogenital Syndrome	Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s...	OMIM:618280
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery	ORPHA:895
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Camptodactyly, Atrial septal...	OMIM:614846
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Tricuspid regurgitation	OMIM:619051
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti...	ORPHA:90060
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Respiratory insufficiency, Hypertension, Second degree atrioventricular block, ...	OMIM:617021
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Congenital Pseudoarthrosis Of The Clavicle	Dextrocardia, Situs inversus totalis, Osteoarthritis, Cervical ribs, Congenital pseudoarthrosis o...	ORPHA:66630
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Macdermot-Winter Syndrome	Hydronephrosis, Camptodactyly of finger	OMIM:247990
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges...	ORPHA:3092
Familial Thrombocytosis	Transient ischemic attack, Peripheral arterial stenosis, Syncope, Cerebral ischemia, Pulmonary ar...	ORPHA:71493
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Hurler-Scheie Syndrome	Aortic regurgitation, Recurrent respiratory infections, Mitral regurgitation, Pulmonary arterial ...	OMIM:607015
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Tachypnea, Coarctation of aorta	OMIM:614857
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ...	ORPHA:229
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta	OMIM:140850
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Craniofacioskeletal Syndrome	Barrel-shaped chest, Ventricular septal defect, Patent ductus arteriosus, Shield chest, Interrupt...	OMIM:300712
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Patent ...	OMIM:117550
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Respiratory tract infection, Raynaud phenomenon, Dyspnea, Whe...	ORPHA:79128
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Myelomeningocele, Hypoplasti...	ORPHA:2876
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Overlap Myositis	Raynaud phenomenon, Hypertension, Abnormal pulmonary interstitial morphology, Pulmonary arterial ...	ORPHA:206572
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of...	ORPHA:284227
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Pericarditis, Dyspnea, Myocarditis, Abnormal pulmonary interstitial ...	ORPHA:809
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Alpha-2-Plasmin Inhibitor Deficiency	Joint hemorrhage, Hemothorax	OMIM:262850
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Coarctation of aorta, Abn...	OMIM:618494
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis, Coarctation of aorta, Abnormal aortic morpholog...	ORPHA:2396
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P...	ORPHA:3309
Kyphomelic Dysplasia	Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Limitation of joint m...	ORPHA:1801
Duodenal Atresia	Abnormality of the pulmonary artery	ORPHA:1203
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac...	ORPHA:2257
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Red...	ORPHA:258
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Tachypnea, Hypertension, Death in childhood, Pulmonary arterial hypertension	OMIM:613320
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ...	ORPHA:85285
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism	ORPHA:745
Kagami-Ogata Syndrome	Pulmonary arterial hypertension, Pulmonary hypoplasia, Pulmonic stenosis	OMIM:608149
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Diaphragmatic Hernia 4, With Cardiovascular Defects	Neonatal respiratory distress, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmona...	OMIM:620025
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Recurrent fractures, Abnormal rib morphology, Joint hyperflexibility, ...	ORPHA:2772
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:600376
1Q21.1 Microdeletion Syndrome	Joint hyperflexibility, Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted...	ORPHA:250989
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Adams-Oliver Syndrome	Pulmonary artery atresia, Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Portal hy...	ORPHA:974
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydronephrosis	ORPHA:251046
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hyd...	OMIM:620327
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Flexion contracture, Hypoplastic aortic arch...	ORPHA:314588
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Aortic root aneurysm, Aortic ath...	ORPHA:363618
Prune Belly Syndrome	Hydroureter, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, Congenital post...	OMIM:100100
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse...	OMIM:115470
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Bidirectional shunt...	OMIM:619351
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ...	ORPHA:2357
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Renal atrophy, Congenital contracture, Hydronephrosis	OMIM:618578
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect, Intrinsic hand muscle atrophy	OMIM:618569
Fadd-Related Immunodeficiency	Pulmonary artery atresia	ORPHA:306550
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular septal defect, Hypospadias, ...	ORPHA:508498
Aortic Aneurysm, Familial Thoracic 10	Joint laxity, Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Pectus excav...	OMIM:617168
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Portal hypertension	OMIM:210050
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis	OMIM:278300
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the skin, Bronchiectasis	OMIM:620321
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis, Pulmonic ste...	OMIM:620141
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
3C Syndrome	Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Ab...	ORPHA:7
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia	OMIM:613759
Craniofaciofrontodigital Syndrome	Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Dyspnea, Congest...	ORPHA:363705
Alg12-Cdg	Hypospadias, Muscular ventricular septal defect, Patent ductus arteriosus, Biventricular hypertro...	ORPHA:79324
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension	OMIM:215600
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension	ORPHA:447980
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Arteriosclerosis of small cerebral arteries,...	ORPHA:1830
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal...	ORPHA:2538
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ...	ORPHA:139466
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Abnormal rib morphology, Abnormal shoulder morphology, C...	ORPHA:2345
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Pulmonic stenosis	OMIM:615508
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Dyspnea, Arteriosclerosis, Hypertension, Cerebral ischemia, Pulmonary ...	OMIM:242900
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Flexion contracture, Coarctation of aorta, Interrupted aortic arch, Hyp...	ORPHA:17
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology	ORPHA:1513
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Flexion c...	ORPHA:261290
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology	ORPHA:276422
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Ventricular septal defect, Patent ductus arteriosus, Int...	ORPHA:163979
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hydronephrosis	OMIM:618950
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct...	OMIM:608978
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal rib morpholo...	ORPHA:2635
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension	OMIM:259420
Congenital Rubella Syndrome	Abnormality of the pulmonary artery	ORPHA:290
Sarcoidosis, Susceptibility To, 1	Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restri...	OMIM:181000
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cy...	ORPHA:3378
Gaucher Disease Type 1	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology	ORPHA:77259
Systemic Sclerosis	Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Dyspnea, My...	ORPHA:90291
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat...	OMIM:616482
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Dextrocardia	Abnormal EKG, Abnormal lung lobation, T-wave inversion, Abnormal pulmonary situs morphology, Abno...	ORPHA:1666
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr...	OMIM:613001
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal rib morphology, Anomalous...	ORPHA:1120
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:615474
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism	ORPHA:743
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Ventricular septal defect, Abnormal rib morphology, Narrow chest, D...	ORPHA:93267
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia	OMIM:616449
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Sudden cardiac death, Dyspnea, Dilated cardiomyopathy, Coarctation of aorta, Aborted...	OMIM:614921
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ...	ORPHA:1780
Distal 22Q11.2 Microdeletion Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Camptodactyly of finger, Atrial se...	ORPHA:261330
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduce...	ORPHA:1488
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Hypertrophic cardiomyo...	OMIM:616897
Grant Syndrome	Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility, Narrow chest, Spre...	ORPHA:2097
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Stroke-like episode, Cardiomyopathy, Hydronephrosis	OMIM:222300
X-Linked Mandibulofacial Dysostosis	Abnormality of the pulmonary artery, Pulmonic stenosis	ORPHA:1131
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:616028
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Abnormal heart morphology	ORPHA:531151
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Ventricular septal defect, Hypospadias, Vesicoureteral reflux, Micr...	OMIM:301056
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus, Hydronephrosis	OMIM:619797
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Laubry-Pezzi Syndrome	Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure...	ORPHA:99094
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap...	ORPHA:261344
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Geleophysic Dysplasia 2	Tricuspid stenosis, Respiratory insufficiency, Mitral regurgitation, Aortic valve stenosis, Pulmo...	OMIM:614185
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pleural effusio...	ORPHA:2905
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:610733
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular canal defect, ...	OMIM:264480
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, My...	ORPHA:221
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Pectus carinatum...	OMIM:259440
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Vertebral artery hypoplasia, Block vertebrae, Unilateral vertebral artery hypop...	OMIM:613686
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
White Forelock With Malformations	Abnormal rib morphology, Joint hyperflexibility, Atrial septal defect, Sprengel anomaly, Spina bi...	ORPHA:2475
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Kury-Isidor Syndrome	Ventricular septal defect, Hydronephrosis	OMIM:619762
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm...	ORPHA:3097
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar...	OMIM:219730
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Hyp...	ORPHA:2461
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis	ORPHA:457193
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Fanconi Renotubular Syndrome 5	Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma	OMIM:618913
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:164280
Zaki Syndrome	Renal agenesis, Congenital diaphragmatic hernia, Patent ductus arteriosus, Patent foramen ovale, ...	OMIM:619648
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo...	OMIM:602196
Carpenter Syndrome 1	Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Transposit...	OMIM:201000
17Q23.1Q23.2 Microdeletion Syndrome	Dyspnea, Pulmonary arterial hypertension	ORPHA:261279
Ciliary Dyskinesia, Primary, 37	Right aortic arch, Dextrocardia, Situs inversus totalis	OMIM:617577
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Large placenta, Abnormal heart morphology, Coat hanger sign of ribs, U...	ORPHA:254534
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Ureteral agenesis, Congenital megaureter, Apla...	ORPHA:2437
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Charge Syndrome	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal rib morphology, Abnormal cardiac septum ...	ORPHA:138
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos...	ORPHA:261494
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con...	ORPHA:505248
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Ventricular septal defect, Vascular ring, Knee flexion contracture, Atrial se...	OMIM:603387
Duane-Radial Ray Syndrome	Renal malrotation, Ventricular septal defect, Facial palsy, Renal agenesis, Vesicoureteral reflux...	OMIM:607323
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Pneumonia, Recurrent upper respiratory tract infections, Restrictive ven...	OMIM:253200
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Achondrogenesis Type 1B	Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow chest, Umbilical ...	ORPHA:93298
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypoxemia, Recurrent respiratory infections, Pulmonary arterial hypertension	ORPHA:2282
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ca...	ORPHA:99776
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr...	ORPHA:887
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Ureteral triplication, Hydronephrosis, Mitral valve prolapse	OMIM:104350
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Nestor-Guillermo Progeria Syndrome	Dyspnea, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypert...	OMIM:614008
Fg Syndrome Type 1	Pulmonary arterial hypertension, Coarctation of aorta	ORPHA:93932
Femoral-Facial Syndrome	Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni...	OMIM:134780
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, Complete atriove...	ORPHA:508488
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena...	ORPHA:49
Stuve-Wiedemann Syndrome 1	Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmonary hypoplasia, Pu...	OMIM:601559
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Gaucher Disease Type 3	Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Pulmonary arterial ...	ORPHA:77261
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, Retinal arteriolar t...	ORPHA:567
Idiopathic Steroid-Resistant Nephrotic Syndrome	Respiratory tract infection, Pulmonary embolism	ORPHA:567548
Intellectual Disability, Buenos-Aires Type	Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:3079
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef...	OMIM:235510
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Vesic...	OMIM:300707
Williams-Beuren Region Duplication Syndrome	Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:2315
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent respiratory infections, Recurrent upper respiratory tract infections, Respiratory insuf...	OMIM:612541
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ascending aorta hypoplasia, Flexion contracture, Knee flexion contracture, Diaphragmatic eventrat...	OMIM:619503
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Beta-Thalassemia Intermedia	High-output congestive heart failure, Pulmonary arterial hypertension	ORPHA:231222
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car...	OMIM:608836
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Abnormal heart morphology, Contractures of the large joi...	ORPHA:96092
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Recurrent pneumonia, Telangiectasia, Hypertension, Tracheomalac...	OMIM:234100
Alg3-Cdg	Osteopenia, Coarctation of the descending aortic arch, Neural tube defect, Cardiomyopathy, Arthro...	ORPHA:79321
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal aortic arch ...	ORPHA:2059
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Stridor, Pulmonary arterial hypertension, Prolonged QT interval	OMIM:620029
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Apnea, Pulmonary artery stenosis, Chronic rhinitis, Pulmonary a...	ORPHA:667
Scleromyxedema	Transient ischemic attack, Raynaud phenomenon, Abnormal lung morphology, Abnormal pulmonary arter...	ORPHA:167635
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Mitral stenosis, Pulmonary arterial hypertension, Peripheral pu...	ORPHA:163956
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi...	ORPHA:99827
Lymphatic Malformation 13	Neonatal death, Pulmonary arterial hypertension, Mitral regurgitation, Chronic lung disease	OMIM:620244
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia	ORPHA:464738
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic...	OMIM:301022
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico...	ORPHA:107
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Pulmonary lymph...	OMIM:235255
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, Hypospadias, Abnormal cardiac septum morphology, Ves...	ORPHA:96169
Microcephaly 26, Primary, Autosomal Dominant	Patent foramen ovale, Hydronephrosis	OMIM:619179
Glycogen Storage Disease Ic	Hypertension, Recurrent upper respiratory tract infections, Pulmonary arterial hypertension, Spid...	OMIM:232240
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangeal joint contracture of fing...	OMIM:305620
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Atrial septal defect, Ar...	ORPHA:85201
Melnick-Needles Syndrome	Vesicoureteral reflux, Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:2484
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus, Hydronephrosis	OMIM:300048
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Congestive heart failure, Recurrent upper respiratory tra...	ORPHA:391487
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension	ORPHA:65286
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Recurrent lower respiratory tract infections, Budd-Chiari syndrome, Pulmonary embolism	OMIM:226300
Jeune Syndrome	Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,...	ORPHA:474
Zellweger Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hypospadias	ORPHA:912
Hypophosphatasia	Emphysema, Respiratory insufficiency	ORPHA:436
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Pagod Syndrome	Sudden cardiac death, Pulmonary artery hypoplasia, Abnormal aortic morphology, Pulmonary hypoplas...	ORPHA:991
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Blad...	OMIM:614080
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Patent duct...	OMIM:610443
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology	ORPHA:97330
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr...	OMIM:270100
Tarp Syndrome	Subdural hemorrhage, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Hydronephrosis	OMIM:311900
Adams-Oliver Syndrome 1	Pulmonary artery stenosis, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aort...	OMIM:100300
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Achondrogenesis, Type Ia	Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Broad clavicles, Abnormal hand bone ossif...	OMIM:200600
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhy...	ORPHA:500
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Paten...	OMIM:188400
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Concentri...	ORPHA:550
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pulmonary arterial hypertension, Aortic root aneurysm, Recurrent aspiration pneumonia, Peripheral...	ORPHA:280633
Renal Agenesis	Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei...	ORPHA:411709
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphol...	OMIM:616737
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Camptodactyly, Aortic valve steno...	OMIM:272950
Marshall-Smith Syndrome	Apnea, Recurrent upper respiratory tract infections, Premature ventricular contraction, Stridor, ...	OMIM:602535
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lymp...	ORPHA:1655
Prune Belly Syndrome	Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Abnormal rib morphology, A...	ORPHA:2970
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Ethmoidal encephalocele, Coarctation of aorta	ORPHA:280195
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis	OMIM:300219
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Acute respiratory distress syndrome, Portal hypertension, Wheezing, Respiratory insufficiency, De...	OMIM:620005
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Vesicoureteral reflux, Abnormal heart morpholog...	ORPHA:453499
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Ventricular septal defect, Hydronephrosis	OMIM:617798
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona...	OMIM:300845
15Q Overgrowth Syndrome	Pulmonary arterial hypertension, Mitral regurgitation, Tricuspid regurgitation	ORPHA:314585
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Abnormal heart valve morphology, Functional abnormality of the bladder, Ne...	ORPHA:2953
Mosaic Trisomy 14	Narrow chest, Abnormal rib morphology, Camptodactyly of finger	ORPHA:1703
Carey-Fineman-Ziter Syndrome 1	Pulmonary arterial hypertension, Respiratory insufficiency	OMIM:254940
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal rib morphology, Pectus carin...	ORPHA:93351
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension, Laryngotracheomalacia, Coarctation of aorta	OMIM:618454
Incontinentia Pigmenti	Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Pulm...	ORPHA:464
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta	ORPHA:1797
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Precocious atherosclerosis, Hypovolemia, Hypotension, Pulmonary arterial ...	ORPHA:275761
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst,...	ORPHA:1834
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin...	OMIM:610168
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys...	OMIM:618460
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid...	OMIM:146510
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary ...	ORPHA:79282
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Dyspnea, Hypertension, Pleural effusion	ORPHA:567546
Ogden Syndrome	Apnea, Pulmonary artery stenosis, Ventricular tachycardia, Premature ventricular contraction, Pul...	OMIM:300855
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Arthrogryposis multiplex congenita, Hydronephrosis	OMIM:618265
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyo...	ORPHA:2326
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Ascending tubular aorta...	ORPHA:444072
Vater/Vacterl Association	Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d...	OMIM:192350
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Peripheral pulmonary artery stenosis, Ventricular septal defect, Craniosynostosis, Pectus excavat...	OMIM:617506
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Camptodactyly of finger, Meningocele, Short thorax, Abnormal rib ...	ORPHA:2311
Opitz Gbbb Syndrome	Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Patent ductus arteriosus...	ORPHA:2745
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Ankle flexion contracture, Unilateral renal agenesis, Pat...	ORPHA:464311
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Diastasis recti...	ORPHA:2092
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Camptodactyly, Left ventricular hype...	OMIM:611209
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Renal agenesis, Macroglossia, Perimembranous ventricular ...	OMIM:301040
Baller-Gerold Syndrome	Abnormality of the ureter, Abnormal localization of kidney, Abnormal cardiac septum morphology, V...	ORPHA:1225
Gabriele-De Vries Syndrome	Facial hypotonia, Aortopulmonary collateral arteries, Distal arthrogryposis, Ureteropelvic juncti...	OMIM:617557
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Neurogenic bladder, Secundum atrial septal defect, Perimembranous ventri...	OMIM:608779
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Perlman Syndrome	Interrupted aortic arch	OMIM:267000
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Thin ribs, Umbilical hernia, Generalized ost...	OMIM:617952
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g...	ORPHA:3474
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Macroglossia, Aminoaciduria, Al...	OMIM:214100
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Flexion contracture, Aplasia of the bladder, Abnorma...	ORPHA:158684
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Limitation of joint mobility, Abnormal rib morphology, Recurre...	ORPHA:1486
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Asthma, Aortic root aneurysm, Aspiration pneumonia, Tracheomalacia, Pul...	ORPHA:444077
De Barsy Syndrome	Osteopenia, Ventricular septal defect, Pectus excavatum, Generalized joint laxity, Patent ductus ...	ORPHA:2962
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten...	OMIM:606721
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Pulmonary arterial hyp...	OMIM:619573
Melnick-Needles Syndrome	Recurrent respiratory infections, Pulmonary arterial hypertension	OMIM:309350
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis	OMIM:242700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Calcification of the aorta, Abnormal pulmonary interstitial mor...	ORPHA:2072
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis, Portal hypertension	OMIM:620365
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Dyspnea, Bronchiectasis, Mitral regurgitation, Em...	OMIM:123700
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Hadziselimovic Syndrome	Pulmonary artery atresia	OMIM:612946
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Large vessel vasculitis, Renovascular hypertension, Unilateral rena...	ORPHA:49041
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Patent ductus arteriosus, Renal dysplasia, Hydronephrosis	OMIM:300968
Leopard Syndrome 1	Scapular winging, Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect,...	OMIM:151100
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, P...	ORPHA:464306
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax...	ORPHA:538
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Abnormality of muscle size, Facial hypotonia, Hydronephrosis	ORPHA:364028
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hydronephrosis, Hypoplasia of penis, Camptodactyly of finger	ORPHA:2083
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
3Mc Syndrome 1	Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Atrial septal defect, Hydro...	OMIM:257920
Joubert Syndrome 37	Micropenis, Hydronephrosis	OMIM:619185
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Histiocytosis-Lymphadenopathy Plus Syndrome	Pulmonary arterial hypertension, Pulmonic stenosis, Facial telangiectasia	OMIM:602782
Alg9-Cdg	Hypoplasia of the bladder, Torticollis, Ventricular septal defect, Ureteral hypoplasia, Hypoplasi...	ORPHA:79328
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax...	ORPHA:2929
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Abnormal aortic arch morphology, Narrow chest, Atrial septal defect, Interph...	ORPHA:96334
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong...	ORPHA:2322
You-Hoover-Fong Syndrome	Coarctation of aorta, Pectus excavatum, Double aortic arch, Vascular ring	OMIM:616954
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic...	OMIM:613177
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Gaucher Disease	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ...	ORPHA:355
Wrinkly Skin Syndrome	Scapular winging, Atrial septal dilatation, Muscular ventricular septal defect, Hypoplasia of the...	OMIM:278250
Congenital Tracheal Stenosis	Respiratory distress, Ascending aorta hypoplasia, Neonatal asphyxia, Abnormal lung morphology, Dy...	ORPHA:141127
Schwartz-Jampel Syndrome	Pulmonary arterial hypertension, Arrhythmia, Apnea, Respiratory insufficiency	ORPHA:800
Laryngotracheoesophageal Cleft Type 4	Abnormal cardiac septum morphology, Abnormal rib morphology	ORPHA:93941
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Peripheral pulmonary artery stenosis, Duplicated collecting s...	OMIM:280000
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Thoracic aortic aneurysm, Transient ischemic attack, Respiratory...	ORPHA:365
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Fetal pyelectasis, Abnormal le...	ORPHA:264450
Ctcf-Related Neurodevelopmental Disorder	Coarctation of aorta, Mitral regurgitation, Pulmonary arterial hypertension, Recurrent lower resp...	ORPHA:363611
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Diastrophic Dysplasia	Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of finger, Joint stif...	ORPHA:628
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections, Cough	ORPHA:2314
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Unilateral renal agenesi...	ORPHA:96121
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen ovale, Hydronep...	OMIM:618653
48,Xxxy Syndrome	Recurrent respiratory infections, Asthma, Pulmonary embolism	ORPHA:96263
Robinow Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation o...	ORPHA:97360
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Igg4-Related Kidney Disease	Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina...	ORPHA:449395
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal a...	ORPHA:90324
Overhydrated Hereditary Stomatocytosis	Pulmonary embolism	OMIM:185000
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Ventricular s...	OMIM:301068
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Pectus excavatum, Fused cervical vertebrae, Abnormal rib morphology, Abnormal clavicle morphology	ORPHA:2522
Otopalatodigital Syndrome Type 2	Abnormal heart valve morphology, Camptodactyly of finger, Hypospadias, Hydronephrosis, Abnormal c...	ORPHA:90652
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Pneumothorax, Respiratory insufficiency, Pulmonary hypoplasia, Pulmonary...	OMIM:612289
Meier-Gorlin Syndrome 7	Urethral stricture, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defec...	OMIM:617063
Renpenning Syndrome	Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Joint stiffness	ORPHA:3242
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Abnormal pericardium morphology, Abnormal aortic valve morphology, ...	ORPHA:35687
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:1507
Tarp Syndrome	Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, ...	ORPHA:2886
Lymphedema-Distichiasis Syndrome	Arrhythmia, Abnormality of the pulmonary vasculature	ORPHA:33001
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
49,Xxxxy Syndrome	Recurrent respiratory infections, Asthma, Pulmonary embolism	ORPHA:96264
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, Urinary incontinence	ORPHA:476126
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Flexion contracture, Abnormal cardiac septum morphology, Hydronephrosi...	OMIM:308050
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop...	ORPHA:1340
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd...	ORPHA:79403
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac...	ORPHA:261311
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Transient ischemic attack, Coronary...	ORPHA:51608
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Abnormality of the upper urinary tract, Conge...	ORPHA:3380
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Frontometaphyseal Dysplasia	Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Shoulder muscle hypop...	ORPHA:1826
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Abnormal rib morphology, Tarsal synostosis, Synostosis of carpal bones	ORPHA:1836
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad...	ORPHA:1358
Blau Syndrome	Pericarditis, Dyspnea, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertension, Ao...	ORPHA:90340
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Short thorax, Abnormal rib morphology, Pectus carinatum, Reduced...	ORPHA:582
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, Limb hypertonia	ORPHA:488613
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Flexion contracture, Abnormal h...	ORPHA:487796
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Pulmonary arterial hypertension	OMIM:620186
Cardiofaciocutaneous Syndrome 1	Atrial septal defect, Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonic stenosis	OMIM:115150
Farber Disease	Respiratory distress, CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent u...	ORPHA:333
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Joint contracture of the hand, Hydronephrosis, Camptodactyly	OMIM:612513
Degcags Syndrome	Tachycardia, Pneumonia, Asthma, Rhinitis, Pulmonic stenosis, Tracheomalacia, Pulmonary arterial h...	OMIM:619488
Seckel Syndrome 9	Recurrent respiratory infections, Pulmonary artery hypoplasia, Asthma	OMIM:616777
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Trisomy 20P	Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Abnormality of the ureter, Abnor...	ORPHA:261318
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Crackles, Atelectasis, Nonproductive cough, Myocarditis, Subconjunct...	ORPHA:319213
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec...	ORPHA:373
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Tricuspid regurgitation, Mitral stenosis, Tricuspid stenosis, Mitral regurg...	OMIM:143095
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353281
Distal Deletion 12Q	Ectopic kidney, Patent ductus arteriosus, Elbow flexion contracture, Congenital hypertrophy of le...	ORPHA:96149
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Pericarditis, Raynaud phenomenon, Pulmonary hypoplasia, Pul...	ORPHA:3310
Craniosynostosis, Herrmann-Opitz Type	Abnormal rib morphology, Craniosynostosis	ORPHA:2145
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Telangiectasia, Hematochezia, Mitral regurgitati...	OMIM:175050
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septa...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septa...	ORPHA:363958
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:618316
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Abnormal lung morphology, Renovascular hypertension, Coarctation of a...	ORPHA:97685
Fryns Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Renal agenesis, Renal cyst, Aplasia...	OMIM:229850
Apert Syndrome	Overriding aorta, Ventricular septal defect, Hydronephrosis	OMIM:101200
Cutis Laxa, Autosomal Recessive, Type Ia	Ascending tubular aorta aneurysm, Emphysema, Recurrent respiratory infections, Supravalvular aort...	OMIM:219100
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped thorax, Narro...	ORPHA:2021
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo...	ORPHA:363700
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Type 1 muscle fiber atrophy, Vesicoureteral ref...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Type 1 muscle fiber atrophy, Vesicoureteral ref...	ORPHA:352665
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology	ORPHA:2643
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,...	ORPHA:3260
Pauci-Immune Glomerulonephritis	Dyspnea, Arteritis, Abnormality of the pulmonary vasculature, Cough, Small vessel vasculitis, Pul...	ORPHA:93126
Femoral-Facial Syndrome	Radioulnar synostosis, Abnormal rib morphology, Rib fusion, Sprengel anomaly	ORPHA:1988
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Coa...	ORPHA:2044
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormal lef...	ORPHA:2729
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Flexion contracture, Macroglossia, Camptodactyly, Flexion contracture of finger,...	ORPHA:254528
Congenital Myopathy 17	Renal hypoplasia, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Ureteropelvic junct...	OMIM:618975
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Vasculitis, Bronchiectasis, Restrictive ventilatory ...	ORPHA:1572
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Joint hyperflexibility, Abnormal rib morphology, Missing ribs	ORPHA:2759
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:568
Ileal Neuroendocrine Tumor	Hydronephrosis, Tricuspid stenosis, Pulmonic stenosis	ORPHA:100078
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect	OMIM:611174
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Viss Syndrome	Epidural hemorrhage, Abnormal branching pattern of the aortic arch, Dyspnea, Asthma, Pneumothorax...	OMIM:619472
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Calcaneal epiphyseal stippling, Ventricular septal d...	OMIM:117650
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Osteopetrosis With Renal Tubular Acidosis	Pulmonary arterial hypertension	ORPHA:2785
Antley-Bixler Syndrome	Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Abnormal rib mor...	ORPHA:83
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Coarctation of aorta, Hypoplastic left h...	ORPHA:2308
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab...	OMIM:118100
Micro Syndrome	Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney	ORPHA:2510
Atypical Werner Syndrome	Telangiectasia of the skin, Congestive heart failure, Peripheral arterial stenosis, Neoplasm of t...	ORPHA:79474
2P15P16.1 Microdeletion Syndrome	Hydronephrosis, Camptodactyly of finger, Multicystic kidney dysplasia, Facial palsy	ORPHA:261349
Biliary, Renal, Neurologic, And Skeletal Syndrome	Pulmonary artery dilatation, Recurrent respiratory infections, Aortic regurgitation, Tricuspid re...	OMIM:619534
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Pectus carinatum	ORPHA:3068
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Ventricular septal defect, Hypo...	OMIM:270400
Keutel Syndrome	Sinusitis, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Em...	OMIM:245150
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Osteogenesis Imperfecta	Osteopenia, Osteoarthritis, Flexion contracture, Pectus carinatum, Narrow chest, Decreased skull ...	ORPHA:666
X-Linked Dominant Chondrodysplasia Punctata	Flexion contracture, Hydronephrosis	ORPHA:35173
Autosomal Recessive Spastic Paraplegia Type 20	Skeletal muscle atrophy, Dysuria, Upper limb muscle weakness, Distal amyotrophy, Hydronephrosis	ORPHA:101000
Yunis-Varon Syndrome	Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Pulmonary arteria...	ORPHA:3472
Webb-Dattani Syndrome	Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis	OMIM:615926
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Aspiration pneumonia, Ar...	ORPHA:94093
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Macroglossia, Atrial septal defect, Micropenis, Hydr...	OMIM:269150
Homozygous Familial Hypercholesterolemia	Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo...	ORPHA:391665
Granulomatosis With Polyangiitis	Glomerulopathy, Pericarditis, Ureteral stenosis, Renal insufficiency, Proteinuria, Vasculitis, He...	ORPHA:900
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Respiratory...	ORPHA:536467
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Complete atrioventricular canal defect, Micropenis, Tetralogy of Fallot	OMIM:617925
46,Xy Sex Reversal 4	Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:154230
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Neonatal respiratory distress, Supravalvar pulmonary stenosis, Coarctation of aorta, Pulmonary ar...	OMIM:618164
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,...	OMIM:619522
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Secundum atrial septal defect, Pat...	OMIM:616268
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Diastasis recti, Mitral valve prolapse, Nephrotic syndrome, Distal arthrogryposis, Tricuspid valv...	OMIM:601776
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Alagille Syndrome	Ventricular septal defect, Abnormal rib morphology, Atrial septal defect, Spina bifida occulta, P...	ORPHA:52
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary...	ORPHA:117
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Camptodactyly of fing...	ORPHA:1606
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Flexion contracture, Mitral val...	OMIM:180849
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Renal agenesis, Secundum atrial septal...	OMIM:214800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353277
Familial Chylomicronemia Syndrome	Precocious atherosclerosis, Pulmonary embolism	ORPHA:444490
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Simpson-Golabi-Behmel Syndrome, Type 1	Facial hypotonia, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis recti, Hy...	OMIM:312870
Hydrolethalus Syndrome 1	Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect, Agenesis of the d...	OMIM:236680
Cog1-Cdg	Pulmonary arterial hypertension	ORPHA:263508
Pelvis-Shoulder Dysplasia	Hydronephrosis, Camptodactyly of finger	ORPHA:2839
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Flexion contr...	ORPHA:847
Cleidocranial Dysplasia	Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Osteoporosis, Abnormal rib mor...	ORPHA:1452
Poland Syndrome	Encephalocele, Dextrocardia, Aplasia/Hypoplasia of the sternum, Missing ribs, Abnormal rib morpho...	ORPHA:2911
Mosaic Trisomy 8	Vesicoureteral reflux, Arthrogryposis multiplex congenita, Camptodactyly of finger, Hydronephrosis	ORPHA:96061
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Atelectasis, Myocar...	ORPHA:73263
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysp...	ORPHA:249
Heart Block, Congenital	Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node	OMIM:234700
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology	OMIM:601076
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Congenital posterior ...	OMIM:136140
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Hypoplast...	OMIM:300166
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Pulmonary arterial hypertension	OMIM:613355
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v...	ORPHA:3003
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Cough	OMIM:306400
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Al-Gazali Syndrome	Wrist flexion contracture, Hydronephrosis	OMIM:609465
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Flaring of lower rib cage, Short thorax, Abnormal rib morphology, ...	ORPHA:175
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Facial hypotonia, Ebstein anomaly of the tricuspid valve, Distal ar...	ORPHA:506358
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sprengel anomaly, Abnormal rib morphology	ORPHA:2180
15q26 overgrowth syndrome	Renal agenesis, Camptodactyly of finger, Abnormality of the kidney, Horseshoe kidney, Duplication...	DECIPHER:81
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Aortic root aneurysm, Vesicoureteral refl...	OMIM:616580
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis	ORPHA:541423
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal rib morphology, Pectus carinatum	ORPHA:3082
Stromme Syndrome	Myopathy, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Relapsing Polychondritis	Pericarditis, Dyspnea, Atelectasis, Myocarditis, Large vessel vasculitis, Cough, Abnormal pattern...	ORPHA:728
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent...	ORPHA:709
Schinzel-Giedion Syndrome	Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Abnormal heart morphology, M...	ORPHA:798
Dehydrated Hereditary Stomatocytosis	Pulmonary venous hypertension	ORPHA:3202
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness	ORPHA:2167
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:3035
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism	ORPHA:3205
Aspergillosis	Intracranial hemorrhage, Abnormal rib morphology, Osteomyelitis, Stroke	ORPHA:1163
Juberg-Hayward Syndrome	Radioulnar synostosis, Abnormal rib morphology	ORPHA:2319
Aminopterin/Methotrexate Embryofetopathy	Pulmonary artery atresia	ORPHA:1908
Liver Disease, Severe Congenital	Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargement, Hypospadi...	OMIM:619991
Coffin-Siris Syndrome 1	Hydroureter, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Ectopic kid...	OMIM:135900
Short-Rib Thoracic Dysplasia 12	Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:269860
Kabuki Syndrome 1	Crossed fused renal ectopia, Ventricular septal defect, Micropenis, Coarctation of aorta, Atrial ...	OMIM:147920
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology	ORPHA:2234
Cousin Syndrome	Joint contracture of the hand, Wrist flexion contracture, Hydronephrosis, Camptodactyly	OMIM:260660
Campomelia, Cumming Type	Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:1318
Sotos Syndrome	Hip contracture, Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadia...	ORPHA:821
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Contracture of the distal interphalangeal joint of the fingers, Micropenis, Perimembranous ventri...	ORPHA:83617
Hurler Syndrome	Abnormal clavicle morphology, Abnormal heart valve morphology, Camptodactyly of finger, Limitatio...	ORPHA:93473
Raine Syndrome	Arthrogryposis multiplex congenita, Hydroureter, Hydronephrosis	OMIM:259775
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Congestive heart failure, Pneumothorax, Recurrent pneumoni...	ORPHA:90349
Cutis Laxa, Autosomal Recessive, Type Ib	Emphysema, Aortic root aneurysm, Bradycardia, Pulmonary artery aneurysm, Pulmonary artery dilatat...	OMIM:614437
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Macroglossia, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Cenani-Lenz Syndrome	Radioulnar synostosis, Synostosis of joints, Abnormal rib morphology, Synostosis of carpal bones	ORPHA:3258
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Ventricular septal defect, Knee flexion contractur...	OMIM:606170
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Ureteropelvic junction obstruction, Lower limb muscle weakness, Hydronephrosi...	OMIM:616973
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis, Vascular dilatation	ORPHA:2750
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs	ORPHA:3301
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Abnormal clavicle morphology, Joint stiffness, Cardiomegaly, Abnormal ...	ORPHA:581
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Abnormal rib morphology, Increased suscepti...	ORPHA:2769
Nocardiosis	Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Em...	ORPHA:31204
Occipital Horn Syndrome	Hydronephrosis, Bladder diverticulum, Ureteral obstruction, Carotid artery tortuosity	OMIM:304150
Campomelic Dysplasia	Contracture of the distal interphalangeal joint of the fingers, Hypospadias, Hydronephrosis, Abno...	OMIM:114290
Knobloch Syndrome 1	Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli...	OMIM:267750
Cole-Carpenter Syndrome	Joint hyperflexibility, Abnormal rib morphology, Recurrent fractures	ORPHA:2050
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis	ORPHA:1896
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Pectus excavatum, Hypoplastic aortic arch, Joint hypermobility	ORPHA:457284
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Mosaic Trisomy 1	Pulmonary artery atresia, Pulmonary hypoplasia, Coarctation of aorta	ORPHA:1692
Dubowitz Syndrome	Hypospadias, Hydronephrosis	ORPHA:235
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia	OMIM:620113
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ...	OMIM:129900
Oculocerebrocutaneous Syndrome	Abnormal rib morphology, Missing ribs	ORPHA:1647
Multiple Pterygium-Malignant Hyperthermia Syndrome	Pectus excavatum, Arthrogryposis multiplex congenita, Abnormal rib morphology, Camptodactyly of f...	ORPHA:2215
White-Kernohan Syndrome	Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Peters-Plus Syndrome	Ureteral duplication, Ventricular septal defect, Diastasis recti, Hypospadias, Patent ductus arte...	OMIM:261540
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Vesicoureteral reflux, Webbed p...	ORPHA:261552
Hyperlysinemia	Pulmonary artery hypoplasia, Recurrent pneumonia	ORPHA:2203
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia	OMIM:300963
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Vesicoureteral reflux, Webbed p...	ORPHA:2152
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Recurrent urinary tract infections, Hypospadias, Camptodactyly of finger, ...	ORPHA:3455
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Heart murmur, Aspiration pneumonia, Cardiomyopathy	OMIM:216340
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Hydronephrosis, Rhabdomyosarcoma	OMIM:251260
Monosomy 9Q22.3	Pectus excavatum, Abnormal rib morphology, Cardiac fibroma, Joint hyperflexibility, Umbilical hernia	ORPHA:77301
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmona...	ORPHA:261537
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Unilateral Polymicrogyria	Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology	ORPHA:93317
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Tarsal synostosis, Craniosynostosis, Flexion contracture, Elbow flexion con...	ORPHA:95699
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis	OMIM:271520
Alagille Syndrome 1	Ventricular septal defect, Abnormal rib morphology, Coarctation of aorta, Stroke, Renal artery st...	OMIM:118450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect, Hydronephrosis	OMIM:620330
Marfan Syndrome	Spontaneous pneumothorax, Congestive heart failure, Descending aortic dissection, Emphysema, Asce...	ORPHA:558
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Atrial septal defect, Renal dysplasia	ORPHA:480880
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Robinow Syndrome, Autosomal Dominant 3	Pulmonary artery atresia, Tricuspid regurgitation	OMIM:616894
Johanson-Blizzard Syndrome	Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Situs inversus totalis, Dilated c...	OMIM:243800
Osteogenesis Imperfecta, Type Vii	Absent pulmonary artery, Hydronephrosis, Hypoplastic pulmonary veins	OMIM:610682
Myhre Syndrome	Craniofacial hyperostosis, Abnormal cardiac septum morphology, Abnormal rib morphology, Joint sti...	ORPHA:2588
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Emphysema, Pneumothorax,...	OMIM:154700
Alström Syndrome	Respiratory distress, Portal hypertension, Congestive heart failure, Recurrent upper respiratory ...	ORPHA:64
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertension, Pulmonary venous hypertension, Epistaxis	ORPHA:79259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Muscular dystrophy	OMIM:615287
Otopalatodigital Syndrome, Type Ii	Hypospadias, Elbow contracture, Atrial septal defect, Dilatation of the sinus of Valsalva, Hydron...	OMIM:304120
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Spina bifida occulta, Abnormal rib morphology, Thickened cortex of long bones	ORPHA:488434
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Coarctation of aorta	OMIM:600460
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Oculocerebrorenal Syndrome Of Lowe	Atelectasis, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:534
Chand Syndrome	Atelectasis	ORPHA:1401
Monosomy 22Q13.3	Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis	ORPHA:48652
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Tracheomalacia, Ventricular septal defect, Lower-limb joint contracture, Right aortic arch	ORPHA:513456
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Dyspnea, Hypertension, Budd-Chiari syndrome	ORPHA:447
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Pulmonic stenosis	OMIM:614609
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2636
Focal Dermal Hypoplasia	Ureteral duplication, Diastasis recti, Congenital diaphragmatic hernia, Horseshoe kidney, Bifid u...	OMIM:305600
Autosomal Dominant Popliteal Pterygium Syndrome	Abnormal rib morphology, Joint stiffness	ORPHA:1300
Robinow Syndrome, Autosomal Dominant 1	Macroglossia, Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Proteus Syndrome	Sudden cardiac death, Pulmonary embolism, Abnormal lung lobation, Neoplasm of the lung, Bronchoge...	ORPHA:744
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract, Abnormality of the ...	ORPHA:2273
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia	OMIM:273395
Craniofacial Microsomia 1	Occipital encephalocele, Block vertebrae, Ventricular septal defect, Patent ductus arteriosus, Co...	OMIM:164210
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Abnormal rib morphology, Joint hype...	ORPHA:2554
Hereditary Acrokeratotic Poikiloderma	Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger	ORPHA:2907
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis	ORPHA:93271
Radio-Renal Syndrome	Abnormal rib morphology	ORPHA:3015
Monosomy 9P	Limitation of joint mobility, Abnormal rib morphology	ORPHA:261112
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal rib morphology, Abnormal ...	ORPHA:857
Kindler Epidermolysis Bullosa	Flexion contracture, Abnormal rib morphology, Camptodactyly of finger	ORPHA:2908
Ulbright-Hodes Syndrome	Humeroradial synostosis, Abnormal rib morphology, Thin ribs, Short sternum, Short ribs	ORPHA:3404

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 Bmpr2

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 Bmpr2.

No publications found that use IMPC mice or data for Bmpr2.

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MGI Allele	Allele Type	Produced
Bmpr2^{tm188454(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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