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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev... 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 Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev... OMIM:265450
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615343
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Pulmonary Hypertension, Primary, 2
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... OMIM:615342
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Syncope, Pulmonary arterial hypertension, Incre... OMIM:615396
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent respiratory i... OMIM:106700
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary arterial hypertension, Pulmonary... OMIM:178500
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in childhood, Death in ... OMIM:618189
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperd... OMIM:613255
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Allergic Bronchopulmonary Aspergillosis
Emphysema, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Unilateral renal agenesis, Ventricular septal defect OMIM:601355
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... ORPHA:99103
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect OMIM:620203
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Pulmonary arterial hypertension, Abnormal pulmonary in... OMIM:612387
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Death in adolescence, Pulmonary arterial hypertension, ... OMIM:619751
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... ORPHA:163665
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Pulmonary arterial hypertension, Pulmonary fibrosis, Mucosal telangie... ORPHA:220402
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Abnormal aortic morphology, Renal hypoplasia/aplasia, Truncus arteriosus, Ventric... ORPHA:2516
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Adams-Oliver Syndrome 6
Truncus arteriosus, Renal hypoplasia, Ventricular septal defect OMIM:616589
Atrial Septal Defect 9
Pulmonary arterial hypertension OMIM:614475
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial hypertens... ORPHA:2414
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Duplicated collecting system, Micropenis OMIM:620071
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Abnormal heart ... ORPHA:70588
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... ORPHA:228116
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th... ORPHA:60025
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Pulmonary Hypertension, Primary, 5
Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventricular failure OMIM:265400
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis, Camptodactyly of finger ORPHA:3180
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect ORPHA:2956
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Knee osteoarthritis, Beaking of vertebral bodi... OMIM:604864
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Osteoarthritis, Cervical spondylosis, Spina bifida occulta OMIM:184300
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Partial atrioventricular canal defect, Renal insufficie... OMIM:615996
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Ventricular ... ORPHA:1354
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e... ORPHA:199241
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Renal insufficiency, Truncus art... OMIM:617478
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Renal hypoplasia, Renal m... OMIM:601186
Keutel Syndrome
Pulmonary artery stenosis, Recurrent respiratory infections, Pulmonary arterial hypertension, Rec... ORPHA:85202
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Pulmonary hypoplasia, Abnormal descending aorta morphology, Cong... ORPHA:99050
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Abnormal heart morphology, Muscula... ORPHA:363444
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, C... OMIM:615415
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgit... OMIM:613426
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Micropenis, Ureteral duplication, Hypospadias, Pat... OMIM:617516
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the great arteries, Do... OMIM:231060
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... OMIM:115197
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal cyst OMIM:615583
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc... ORPHA:3426
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Pulmonary arterial hypertension, Ventricular tachy... OMIM:601005
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia ORPHA:1208
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Pulmonary Arteriovenous Malformation
Epistaxis, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic attack, Ischemic st... ORPHA:2038
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Hydronephrosis, Arthr... OMIM:607598
Yellow Nail Syndrome
Pulmonary arterial hypertension, Recurrent respiratory infections, Pleuritis, Bronchiectasis, Neo... ORPHA:662
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Arterial stenosis, Cerebral ischemi... ORPHA:3287
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b... OMIM:102510
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infec... OMIM:609029
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Hy... OMIM:220210
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Myocardial infarction, Acute infectious pneumonia, Recurr... ORPHA:60033
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormality of the pul... ORPHA:90308
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Feingold Syndrome Type 1
Interrupted aortic arch, Nephritis, Renal dysplasia, Abnormal heart morphology, Horseshoe kidney,... ORPHA:391641
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Braddock Syndrome
Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:52047
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Abnormal... OMIM:230800
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly OMIM:618804
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuri... OMIM:600001
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Do... OMIM:179613
Antisynthetase Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Telangiectasia of the skin, Myocarditis, A... ORPHA:81
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Sengers Syndrome
Hypertrophic cardiomyopathy, Cardiac arrest, Pulmonary arterial hypertension, Sudden cardiac death OMIM:212350
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Multiple muscular ventricular septal defects, Aortic aneurysm, Limb hyperto... OMIM:620070
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery st... OMIM:615067
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration ORPHA:70589
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular se... ORPHA:2008
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/apla... ORPHA:1926
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Death in childhood, Death in infancy OMIM:619064
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Small then... OMIM:613390
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Urogenital sinu... OMIM:618901
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Congenital diaphragmatic hern... ORPHA:96170
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Atrioventricular block, Right ve... ORPHA:1329
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ... ORPHA:75249
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Congenital Gerbode Defect
Elevated right atrial pressure, Right ventricular failure, Holosystolic murmur, Tricuspid regurgi... ORPHA:99095
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Dilated cardiomyopathy, Muscular ventricular septal defect, 3-Methylgl... ORPHA:66634
Holt-Oram Syndrome
Hypoplastic left heart, Abnormal clavicle morphology, Atrioventricular canal defect, Joint stiffn... ORPHA:392
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Pulmonary arterial hypertension ORPHA:391372
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension OMIM:300887
Sprengel Deformity
Rib segmentation abnormalities, Hemivertebrae, Spina bifida occulta, Cervical segmentation defect... OMIM:184400
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Pectus carinatum, Abnormal rib morphology ORPHA:3268
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Camptodactyly of finger OMIM:616920
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... ORPHA:70587
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... OMIM:620233
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hyp... ORPHA:220393
Chondrodysplasia, Blomstrand Type
Narrow chest, Stillbirth, Short ribs, Preductal coarctation of the aorta, Generalized osteosclero... OMIM:215045
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Aortic arch aneurysm, Pulmonary arterial hypertension, Thoracic aort... OMIM:613834
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Tracheomalacia, Bive... OMIM:618280
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil... ORPHA:2255
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... OMIM:192430
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Unilateral renal agenesis, Renal agenesis OMIM:619227
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Asbestos Intoxication
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... ORPHA:2302
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Pulmonary arterial hypertension OMIM:619051
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis, Atrial septal defect, Camptodactyly, Hypoplastic aortic arch, P... OMIM:614846
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Congenital Pseudoarthrosis Of The Clavicle
Cervical ribs, Situs inversus totalis, Osteoarthritis, Dextrocardia, Congenital pseudoarthrosis o... ORPHA:66630
Alpha-2-Plasmin Inhibitor Deficiency
Joint hemorrhage, Hemothorax OMIM:262850
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Abnormality of the pulmonary artery ORPHA:1166
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger OMIM:247990
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Abnormal heart morphology... ORPHA:980
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension OMIM:210050
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Pulmonary arterial hypertension, Mitral r... OMIM:607015
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Bifid sternum, Right aortic arch, Supraumbilical raphe OMIM:140850
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Pulmonary arterial hypertension, Right aortic arch OMIM:620642
Craniofacioskeletal Syndrome
Interrupted aortic arch, Barrel-shaped chest, Ventricular septal defect, Atrial septal defect, Sh... OMIM:300712
Phaver Syndrome
Camptodactyly of finger, Myelomeningocele, Joint stiffness, Ventricular septal defect, Radioulnar... ORPHA:2876
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Craniofacial hyperostosis, Interrupted aortic arch, Abnormal aortic morpho... ORPHA:2396
Familial Thrombocytosis
Transient ischemic attack, Cerebral ischemia, Syncope, Pulmonary arterial hypertension, Periphera... ORPHA:71493
Sotos Syndrome
Muscular ventricular septal defect, Ventricular septal defect, Atrial septal defect, Abnormality ... OMIM:117550
Overlap Myositis
Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Hypertension, Raynau... ORPHA:206572
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Hydronephrosis, Hydroureter, Fetal megacystis OMIM:619362
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Persistent left superior vena cava, Urethral atres... OMIM:314390
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Patent foramen ovale, Ven... OMIM:618494
Tempi Syndrome
Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Telangiectasia, Transudative p... ORPHA:284227
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Transient ischemic attack, Abnormal heart valve physiolog... ORPHA:464343
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Overriding aorta, Pulmonary arterial hypertension, Second degree atrioventricular b... OMIM:617021
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Myocarditis, Abnormal pulmonary int... ORPHA:809
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Joint stiffness, Undulate ribs, Missing ribs, Anterio... ORPHA:1801
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Pulmonary arterial hypertension OMIM:614857
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi... OMIM:620511
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Heart murmur, Recurrent respiratory in... ORPHA:3309
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Fadd-Related Immunodeficiency
Pulmonary artery atresia ORPHA:306550
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Tetralogy of Fallot, Glandular hypospadias,... ORPHA:2473
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis, Vasculitis in the skin OMIM:620321
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
X-Linked Intellectual Disability, Schimke Type
Ankle flexion contracture, Elbow flexion contracture, Vesicoureteral reflux, Knee flexion contrac... ORPHA:85285
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Syncope, Abnormal... ORPHA:60032
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary hypoplasia OMIM:608149
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia OMIM:613759
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology, Joint hype... ORPHA:250989
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Joint hypermobility, Ventricular septal defect, Decreased calvarial ossif... ORPHA:2772
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Renal agenesis, Tetralogy of Fal... OMIM:115470
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Hydronephrosis, Limb hypertonia, Atrial septal defect, Limb joint contractu... OMIM:620327
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Death in infancy, Neonatal death OMIM:605711
Adams-Oliver Syndrome
Pulmonary artery atresia, Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hy... ORPHA:974
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Distal Triplication 15Q
Dilatation of the renal pelvis, Abnormal heart morphology, Horseshoe kidney, Nephroblastoma, Hydr... ORPHA:314588
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Emphysema, Aortic atherosc... ORPHA:363618
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Congenital Myopathy 19
Congenital contracture, Skeletal muscle atrophy, Renal atrophy, Hydronephrosis, Facial hypotonia OMIM:618578
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Renal hypoplasia, Renal agenesis, Tetralogy of Fallot, Atrioventricular canal defect, Horseshoe k... ORPHA:508498
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension, Death in childhood, Death in infancy OMIM:613320
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Right bundle branch block, Atelectasis, Pulmonary fibrosis ORPHA:254361
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger, Pulmonic ste... OMIM:620141
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Fixed Subaortic Stenosis
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... ORPHA:3092
Prune Belly Syndrome
Hydroureter, Hydronephrosis, Aplasia of the abdominal wall musculature, Patent ductus arteriosus,... OMIM:100100
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Rena... ORPHA:2538
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Congenital diaphragmatic he... ORPHA:139466
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmo... OMIM:620025
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Joint hypermobility, Coron... OMIM:617168
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Alg12-Cdg
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Micropenis, ... ORPHA:79324
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Sprenge... ORPHA:2345
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Hypoplasia of penis, Skeletal muscle atrophy, Hydr... ORPHA:261290
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension ORPHA:447980
Schimke Immuno-Osseous Dysplasia
Atherosclerosis, Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral i... ORPHA:1830
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Coarctation of aorta,... ORPHA:17
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage... ORPHA:163979
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Block vertebrae, Aplasia of posterior communicating artery, Myelomen... OMIM:613686
Suleiman-El-Hattab Syndrome
Hydronephrosis, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618950
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Elevated pulmonary artery pressure, Bidirectional shunt, Pulmonary hypo... OMIM:619351
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Hypertension, Lung adenocarcinoma OMIM:618913
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:616730
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodacty... ORPHA:2635
Congenital Rubella Syndrome
Abnormality of the pulmonary artery ORPHA:290
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... OMIM:608978
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Dextrocardia
Abnormal EKG, Abnormal lung lobation, Abnormality of the pulmonary artery, T-wave inversion, Abno... ORPHA:1666
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Trisomy 13
Abnormality of the ureter, Displacement of the urethral meatus, Ventricular septal defect, Hydron... ORPHA:3378
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Hydronephrosis, Subvalvular aort... OMIM:613001
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Knee flexion contracture, Patent ductus arteriosus after premature bir... OMIM:620454
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Hydronephrosis, Micropenis,... OMIM:616897
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Ventricular septal defect, Decreased skull ossificati... ORPHA:93267
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension, Arteriosclerosis, ... OMIM:242900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Coarctati... ORPHA:1120
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Pulmonary arterial hypertension OMIM:616449
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Recurrent urinary tract infections, Truncus arteriosus, Ventricular sept... ORPHA:261330
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis OMIM:616028
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Cardiomyopathy, Reduced left ventricular ejection fraction, Arrhythmia, Pulmonary ar... ORPHA:258
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Double outlet righ... OMIM:301056
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Mitral regurgitatio... ORPHA:363705
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Abnormal cortical bone morphology, Joint hypermob... ORPHA:2097
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormality of the pulmonary artery ORPHA:1131
Thakker-Donnai Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Hydronephrosis, ... ORPHA:1780
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Hy... ORPHA:449400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:615474
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Joint hypermobility, Ventricular septal defect, Missin... ORPHA:1488
9Q21.13 Microdeletion Syndrome
Abnormal heart morphology, Hydronephrosis ORPHA:531151
Diffuse Alveolar Hemorrhage
Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, Pulmonary venous hypertension ORPHA:90060
Systemic Sclerosis
Intestinal bleeding, Right ventricular failure, Nail bed telangiectasia, Gastrointestinal telangi... ORPHA:90291
Hereditary Hemorrhagic Telangiectasia
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Tongue telangiectasia, Congestive hea... ORPHA:774
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Mu... OMIM:259440
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... OMIM:614823
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Ure... OMIM:610733
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Patent ductus arteriosus OMIM:619797
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Respiratory tract infection, Pulmonary venous hypertension, M... ORPHA:79128
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Stroke-like episode, Hydronephrosis, Neurogenic bladder OMIM:222300
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Crossed fus... ORPHA:3097
Trisomy 1Q
Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricul... ORPHA:261344
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension OMIM:613845
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Kury-Isidor Syndrome
Hydronephrosis, Ventricular septal defect OMIM:619762
White Forelock With Malformations
Joint hypermobility, Sprengel anomaly, Atrial septal defect, Abnormal rib morphology, Spina bifid... ORPHA:2475
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Horseshoe kidney, Vesicoureteral reflux, Congenital diaphragm... OMIM:157800
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology,... ORPHA:209905
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Ventricular ... ORPHA:2461
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy... OMIM:219730
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Complete atrioventricular canal defect, Ventricular septal defe... OMIM:264480
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:457193
Feingold Syndrome 1
Interrupted aortic arch, Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus,... OMIM:164280
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Coarctation of aorta, Pulmonary arterial hy... OMIM:614921
Carpenter Syndrome 1
Joint contracture of the hand, Hydroureter, Tetralogy of Fallot, Ventricular septal defect, Hydro... OMIM:201000
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Synaptic Congenital Myasthenic Syndromes
Recurrent lower respiratory tract infections, Pulmonary arterial hypertension ORPHA:98915
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Short ribs, Ventricular septal defect, Atrial septal def... ORPHA:2519
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Zaki Syndrome
Renal agenesis, Congenital diaphragmatic hernia, Patent foramen ovale, Hydronephrosis, Patent duc... OMIM:619648
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Joint hypermo... OMIM:602196
Kleefstra Syndrome
Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Ventricular septal defect, Hydro... ORPHA:261494
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia OMIM:617577
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Ventricular sep... ORPHA:254534
Xanthinuria, Type I
Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Hydronephrosis, Xanthinuria OMIM:278300
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Pulmonary arterial hypertension, Abnormal pulmonary interstitial mor... OMIM:181000
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Dextrocardia, Congenital me... ORPHA:2437
Charge Syndrome
Interrupted aortic arch, Umbilical hernia, Tetralogy of Fallot, Aortic arch aneurysm, Abnormal ao... ORPHA:138
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Thoracic scoliosis, Ventricular septal defect, Atrial septal defect, Va... OMIM:603387
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Pulmonary arterial hypertension, Neonatal death OMIM:616482
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pectoralis hypoplasia, Crossed fused renal ec... OMIM:607323
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Portal hypertension ORPHA:77259
ERI1-related disease
Tricuspid regurgitation, Pulmonary arterial hypertension OMIM:608739
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Mildly reduced left ventricular eje... ORPHA:99094
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Sinus tachycardia, Cardiomyopathy, Tricu... OMIM:253200
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Pulmonary arterial hypertension, Tr... OMIM:614185
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Umbilical hernia, Short ... ORPHA:93298
Mosaic Trisomy 9
Renal dysplasia, Camptodactyly of finger, Abnormal heart valve morphology, Horseshoe kidney, Endo... ORPHA:99776
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Congenital diaphragmati... ORPHA:887
Poems Syndrome
Pulmonary arterial hypertension, Pleural effusion ORPHA:2905
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication, Patent ductus arteriosus, Mitral valve prolapse OMIM:104350
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Respiratory tract infection ORPHA:567548
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral renal hypoplasia, Abnormal heart morphology, Atrioventricula... ORPHA:508488
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... OMIM:612474
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Pulmonary arterial ... ORPHA:77261
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, V... ORPHA:49
17Q23.1Q23.2 Microdeletion Syndrome
Pulmonary arterial hypertension ORPHA:261279
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral refl... OMIM:235510
Fg Syndrome Type 1
Coarctation of aorta, Pulmonary arterial hypertension ORPHA:93932
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension ORPHA:2282
Holt-Oram Syndrome
Hypoplasia of deltoid muscle, Mitral valve prolapse, Ventricular septal defect, Atrial septal def... OMIM:142900
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Renal hypoplasia, Tetralogy of Fallot, Retinal arteriolar tortuo... ORPHA:567
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Valvular pulmonary stenosis, Hyd... OMIM:300707
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Shoulder flexion contracture, Tetralogy of Fallot, Muscular ventricular septal ... OMIM:210710
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Abnormal cardiac septum morphology ORPHA:3079
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Atherosclerosis, Mitral regurgitation, Right bundle branch block, Pulmonary ar... OMIM:614008
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Emphysema, Tricuspi... OMIM:614437
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage ORPHA:624
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus OMIM:609757
Johanson-Blizzard Syndrome
Hydronephrosis, Abnormal cardiac septum morphology, Dextrocardia, Hypoplasia of penis, Hypospadias ORPHA:2315
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Ventricular septal defect, Hypoplastic aortic arch, Hypoplastic left heart, Mitr... OMIM:619503
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Scleromyxedema
Raynaud phenomenon, Abnormal pulmonary artery morphology, Transient ischemic attack, Abnormal lun... ORPHA:167635
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitat... ORPHA:505248
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Recurrent respirato... ORPHA:99125
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Renal agenesis, Camptodactyly of finger, Truncus art... OMIM:134780
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Recurrent lower respiratory tract infections, Pulmonary embolism OMIM:226300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Portal hypertension OMIM:620365
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Pulmonary arterial hypertension, Mitral stenosis, Recurrent... ORPHA:163956
Glycogen Storage Disease Ic
Hypertension, Recurrent upper respiratory tract infections, Pulmonary arterial hypertension, Spid... OMIM:232240
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Abnormality of the urinary system, Contractures of the large joints, A... ORPHA:96092
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Renal insufficiency, Increased muscle lipid co... OMIM:608836
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Alg3-Cdg
Osteopenia, Cardiomyopathy, Coarctation of the descending aortic arch, Arthrogryposis multiplex c... ORPHA:79321
Fryns Syndrome
Abnormal aortic arch morphology, Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicouretera... ORPHA:2059
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Pulmonary arterial hypertension ORPHA:464738
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Mitral regurgitation, Pulmonary arterial hypertensi... OMIM:612541
Hallermann-Streiff Syndrome
Recurrent pneumonia, Telangiectasia, Pulmonary arterial hypertension, Recurrent respiratory infec... OMIM:234100
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Koolen-De Vries Syndrome
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Bicuspid aortic valve, Abnormal cardiac... ORPHA:96169
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, High-output congestive heart failure ORPHA:231222
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Renal hypoplasia, Ureteral stenosis, Atrioventricular ca... OMIM:270100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Abnormal heart morphology, Renal insufficiency, Vesicoureteral reflux,... ORPHA:2237
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Ventricular septal defect, Thyroid lymphangiectasia, Hydronephrosis,... OMIM:235255
Koolen-De Vries Syndrome
Aortic root aneurysm, Recurrent urinary tract infections, Vesicoureteral reflux, Ventricular sept... OMIM:610443
Frontometaphyseal Dysplasia 1
Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Skeletal muscle atrophy,... OMIM:305620
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Medial calcification of large arteries, Congestive ... ORPHA:391487
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Patent foramen ovale OMIM:619179
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Congenital diaphragmatic hernia, Apical muscular ventricular septal defec... OMIM:301022
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux, Abnormal cardiac septum morphology ORPHA:2484
Genitopatellar Syndrome
Multicystic kidney dysplasia, Knee flexion contracture, Hip contracture, Hydronephrosis, Atrial s... ORPHA:85201
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect ORPHA:912
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormal aortic morphology, Abnormality of the pulmonary artery, Arr... ORPHA:991
Thoracic Outlet Syndrome
Varicose veins, Abnormal rib morphology ORPHA:97330
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Pulmonary arterial hypertension OMIM:620663
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension ORPHA:65286
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... ORPHA:402075
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydronephrosis, Bladder ... OMIM:614080
Digeorge Syndrome
Interrupted aortic arch, Unilateral renal agenesis, Right aortic arch with mirror image branching... OMIM:188400
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Abnormality of the pulmonary artery, Arrhythmia... ORPHA:500
Tarp Syndrome