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