| 疾病名称 |
别名 |
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| 46,Xy Sex Reversal 9 |
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SRXY9
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46,Xy Sex Reversal, Zfpm2-Related
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46xy Sex Reversal 9
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| Diaphragmatic Hernia 3 |
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DIH3
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Hernia, Diaphragmatic, Type 3
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| Tetralogy Of Fallot |
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TOF
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Fallot Tetralogy
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Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
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Tetrad Of Fallot
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Fallot Tetrad
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Fallot Disease
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Fallot Complex
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Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
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Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
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Interventricular Septal Defect, In Tetralogy Of Fallot
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Ventricular Septal Defect With Obstructed Right Ventricular Outflow
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Tof - [Tetralogy Of Fallot]
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Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
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Pulmonary Atresia, Ventricular Septal Defect And Mapcas
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Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
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| Double Outlet Right Ventricle |
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Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
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Taussig-Bing Syndrome
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Dextrotransposition Of Aorta
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Taussig-Bing Syndrome Or Defect
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Dorv
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Dorv With Subpulmonary Vsd
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Dorv-Tga
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Double Outlet Right Ventricle With Transposition Of The Great Arteries
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Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type
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Taussig-Bing Heart
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Taussig-Bing Malformation
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Taussig-Bing Complex
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Taussig-Bing Defect
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Taussig-Bing
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Double Outlet Right Ventricle With Remote Ventricular Septal Defect
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Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
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Double Outlet Right Ventricle With Non-Committed Interventricular Communication
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Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
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Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
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| 46,Xy Partial Gonadal Dysgenesis |
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46,Xy Pgd
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46,Xy Partial Testicular Dysgenesis
|
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| Conotruncal Heart Malformations |
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Persistent Truncus Arteriosus
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Conotruncal Anomaly Face Syndrome
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Truncus Arteriosus
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Common Arterial Trunk
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CTHM
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Conotruncal Heart Malformations, Variable
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Tac
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Truncus Arteriosus Communis
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Conotruncal Cardiac Defects
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Common Aorticopulmonary Trunk
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Cafs
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Conotruncal Heart Defects
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Cthd
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Dorv
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Double-Outlet Right Ventricle
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Pta
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Heart Malformations, Conotruncal
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Common Truncus
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Common Truncus Arteriosus
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Persistent Truncus Arteriosus Or Communis
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Truncus Communis
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Common Aortico-Pulmonary Trunk
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Truncus Arteriosus With Aortic Dominance
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Truncus Arteriosus With No Aortic Obstruction
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Truncus Arteriosus With Pulmonary Dominance And Interrupted Aortic Arch
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Truncus Arteriosus With Interrupted Aortic Arch
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Common Arterial Trunk With Interrupted Aortic Arch
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Van Praagh Truncus Arteriosus Type A4
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| Diaphragmatic Hernia, Congenital |
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Congenital Diaphragmatic Hernia
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Diaphragmatic Hernia
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Cdh
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Congenital Diaphragmatic Defect
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Hernia, Diaphragmatic
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Dih
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Hernia, Congenital Diaphragmatic
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Hcd
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Diaphragmatic Defect, Congenital
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Diaphragm, Unilateral Agenesis Of
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Hemidiaphragm, Agenesis Of
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Diaphragmatic Hernia 1
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Agenesis Of Hemidiaphragm
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Unilateral Agenesis Of Diaphragm
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Hernia Diaphragmatic
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Hernia Diaphragmatic Congenital
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Hernia, Diaphragmatic, Type 1
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Hiatus Hernia
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Oesophageal Hiatus Hernia
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Paraoesophageal Hernia
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Sliding Hiatus Hernia
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Congenital Diaphragm Hernia
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Congenital Diaphragm Defect With Hernia
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Gross Congenital Diaphragm Defect
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| Tricuspid Atresia |
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Congenital Agenesis Of The Tricuspid Valve
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| 46,Xy Sex Reversal |
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Swyer Syndrome
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Pure Gonadal Dysgenesis 46,Xy
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Gonadal Dysgenesis, Xy Female Type
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Gonadal Dysgenesis, 46,Xy
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46,Xy Cgd
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46,Xy Complete Gonadal Dysgenesis
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46,Xy Pure Gonadal Dysgenesis
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46 Xy Gonadal Dysgenesis
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46, Xy Cgd
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46, Xy Complete Gonadal Dysgenesis
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46, Xy Pure Gonadal Dysgenesis
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Xy Pure Gonadal Dysgenesis
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Female With 46,Xy Karyotype
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Xy Females
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| Ventricular Septal Defect |
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Ventricular Septal Defects
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Interventricular Septal Defect
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Heart Septal Defects, Ventricular
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Ventricular Septal Abnormality
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Interventricular Septum Defect
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Ventricular Septum Defect
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Vsd - [Ventricular Septum Defect]
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Congenital Ventricular Septal Defect
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Single Ventricular Septal Defect
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| Testicular Thecoma |
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| Diaphragm Disease |
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Abnormality Of The Diaphragm
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Disease Of Diaphragm
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Diaphragmatic Disorder
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Disorder Of Diaphragm
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| Gonadal Dysgenesis |
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Gonadal Dysgenesis Syndrome
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Turner Syndrome
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| Disorder Of Sexual Development |
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Disorder Of Sex Development
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Disorders Of Sex Development
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Sex Development Disorder
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Sex Differentiation Disease
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Dsd
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Sex Differentiation Disorders
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| Femoral Vein Thrombophlebitis |
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Phlebitis And Thrombophlebitis Of Femoral Vein
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Thrombophlebitis Of The Femoral Vein
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Thrombophlebitis Of Deep Femoral Vein
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| Diaphragmatic Eventration |
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| 45,X/46,Xy Mixed Gonadal Dysgenesis |
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45,X/46,Xy Mgd
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45,X0/46,Xy Mgd
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45,X0/46,Xy Mixed Gonadal Dysgenesis
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| Hermaphroditism |
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| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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X-Linked Dyserythropoietic Anemia
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X-Linked Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia
|
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XLANP
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Anemia, X-Linked, With/Without Neutropenia And/Or Platelet Abnormalities
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X-Linked Anemia With/Without Neutropenia And/Or Platelet Abnormalities
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Anemia Without Thrombocytopenia, X-Linked
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XLAWT
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Anemia X-Linked With Variable Neutropenia
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| Hypoparathyroidism-Deafness-Renal Disease Syndrome |
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Barakat Syndrome
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Hypoparathyroidism, Deafness, Renal Disease Syndrome
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Hdr Syndrome
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Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
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| Donnai-Barrow Syndrome |
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Faciooculoacousticorenal Syndrome
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Dbs/Foar Syndrome
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Foar Syndrome
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Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome
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Facio-Oculo-Acoustico-Renal Syndrome
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Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
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Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome
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Holmes-Schepens Syndrome
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Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness
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DBS
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Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria
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Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis
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Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome
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Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss
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Donnai Barrow Syndrome
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| Heart Septal Defect |
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Septal Defect
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Heart Septal Defects
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Cardiac Septal Defects
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Congenital Septal Defect Of Heart
|
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| Atrioventricular Septal Defect |
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AVSD
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Atrioventricular Canal Defect
|
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Avcd
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Endocardial Cushion Defect
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Ecd
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Avc Defect
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Atrioventricular Septal Defect, Susceptibility To, 1
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Atrioventricular Septal Defect 1
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Endocardial Cushion Defects
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Septal Defect, Atrioventricular
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Atrioventricular Defect With Atrial Shunting Only
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Incomplete Atrioventricular Septal Defect With Isolated Atrial Component
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Incomplete Atrioventricular Canal Defect With Isolated Atrial Component
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Primum Atrial Septal Defect
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Partial Atrioventricular Canal Defect With Isolated Atrial Component
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Partial Atrioventricular Septal Defect, Ostium Primum Type
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Ostium Primum Atrial Septal Defect
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Partial Atrioventricular Canal Defect
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Partial Atrioventricular Septal Defect
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Atrial Septum Primum Defect
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Atrioventricular Canal Defect With Isolated Ventricular Component
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Atrioventricular Canal Defect With Isolated Ventricular Communication
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Atrioventricular Septal Defect With Isolated Ventricular Component
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Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting
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Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve
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Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves
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Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect
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Intermediate Atrioventricular Canal Defect
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Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices
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Intermediate Atrioventricular Septal Defect
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Transitional Atrioventricular Canal Defect
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Transitional Atrioventricular Septal Defect
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Complete Atrioventricular Canal With Atrial And Ventricular Components
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Complete Atrioventricular Canal Defect
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Complete Atrioventricular Septal Defect
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| Craniofacial-Deafness-Hand Syndrome |
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CDHS
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Craniofacial Deafness Hand Syndrome
|
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Sommer-Young-Wee-Frye Syndrome
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Features Of Flat Facial Profile, Hypertelorism, Hypoplastic Nose With Slitlike Nares, And A Sensorineural Hearing Loss
|
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Craniofacial-Hearing Loss-Hand Syndrome
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| Ebstein Anomaly |
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Ebstein'S Anomaly
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Ebstein'S Anomaly Of Common Atrioventricular Valve
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Ebstein'S Anomaly Of Right Atrioventricular Valve
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Ebstein'S Anomaly Of Tricuspid Valve
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Ebstein'S Malformation
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Ebstein Malformation Of The Tricuspid Valve
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Ebstein Anomaly Of The Tricuspid Valve
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Ebstein Disease
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Accessory Tricuspid Valve Tissue
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Congenital Ebstein Deformity Of Tricuspid Valve
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Ebstein Syndrome
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Ebstein Cardiopathy
|
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Ebstein Anomaly Of Tricuspid Valve
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| Atrial Heart Septal Defect |
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Atrial Septal Defect
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Atrial Septal Defects
|
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Atrioseptal Defect
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Auricular Septal Defect
|
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Congenital Atrial Septal Defect
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Interatrial Septal Defect
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Interauricular Septal Defect
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Heart Septal Defects, Atrial
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Septal Defect, Atrial
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| Trichorhinophalangeal Syndrome, Type Ii |
|
Langer-Giedion Syndrome
|
Lgs
|
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Trichorhinophalangeal Syndrome Type Ii
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Trichorhinophalangeal Syndrome Type 2
|
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TRPS2
|
Monosomy 8q24.1
|
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Chromosome 8q24.1 Deletion Syndrome
|
Deletion 8q24.1
|
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Giedion-Langer Syndrome
|
Trichorhinophalangeal Dysplasia Type Ii
|
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Langer Giedion Syndrome
|
Trps 2
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Tricho-Rhino-Phalangeal Syndrome Type Ii
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Trichorhinophalangeal Syndrome With Exostosis
|
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Trps Ii
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Tricho-Rhino-Phalangeal Syndrome 2
|
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8q24.1 Microdeletion Syndrome
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8q24.1 Deletion Syndrome
|
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| Persistent Mullerian Duct Syndrome |
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Persistent Müllerian Duct Syndrome
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Pmds
|
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Persistent Oviduct Syndrome
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Persistent Muellerian Duct Syndrome
|
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Female Genital Ducts In Otherwise Normal Male
|
Hernia Uteri Inguinale
|
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Persistent Mullerian Duct Syndrome, Types 1 And 2
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Persistent Mullerian Derivatives
|
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| Wolf-Hirschhorn Syndrome |
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Pitt-Rogers-Danks Syndrome
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WHS
|
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Chromosome 4p16.3 Deletion Syndrome
|
Wittwer Syndrome
|
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4p- Syndrome
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Pitt Syndrome
|
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4p Deletion Syndrome
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Distal Deletion 4p
|
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Distal Monosomy 4p
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Telomeric Deletion 4p
|
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Prds
|
4p Syndrome
|
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Chromosome 4p Syndrome
|
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
|
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Wolf Syndrome
|
Chromosome 4p Deletion Syndrome
|
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Chromosome 4p Monosomy
|
Del Syndrome
|
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Monosomy 4p
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Partial Monosomy 4p
|
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Chromosome 4 Short Arm Deletion
|
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| Hypoplastic Left Heart Syndrome |
|
Hlhs
|
Heart, Hypoplastic Left, Syndrome
|
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Hypoplasia Of The Left Heart
|
Left Heart Hypoplasia Syndrome
|
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Hlhs - [Hypoplastic Left Heart Syndrome]
|
Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
|
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Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome
|
Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle
|
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Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia
|
Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
|
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Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
|
|
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| Patent Ductus Arteriosus 1 |
|
Patent Ductus Arteriosus
|
PDA1
|
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Pda
|
Ductus Arteriosus, Patent
|
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Patent Ductus Arteriosus, Susceptibility To
|
Patent Ductus Botalli
|
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Patency Of The Ductus Arteriosus
|
Patent Ductus Arteriosus Familial
|
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Ductus Arteriosus Patent
|
Patent Ductus Arteriosus - Persisting Type
|
|
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| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism
|
Undescended Testicle
|
|
Undescended Testis
|
Cryptorchism
|
|
Undescended Testicles
|
CRYPTO
|
|
Impaired Testicular Descent
|
Cryptosporidiosis
|
|
Retained Testis
|
Unilateral Cryptorchidism
|
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Unilateral Undescended Testis
|
Nondescent Unilateral Testicle
|
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Unilateral Cryptorchism
|
Ectopic Testis, Unilateral
|
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Bilateral Cryptorchidism
|
Bilateral Cryptorchism
|
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Bilateral Nondescent Testicle
|
Bilateral Undescended Testes
|
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Bilateral Ectopic Testes
|
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