| Diseases |
Alias |
|
| Atrioventricular Septal Defect 2 |
|
Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome
|
Atrioventricular Septal Defect, Susceptibility To, 2
|
|
AVSD2
|
Septal Defect, Atrioventricular, Type 2
|
|
|
| Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia |
|
Balanced Partial Atrioventricular Canal
|
Pavc Without Ventricular Hypoplasia
|
|
Partial Avsd Without Ventricular Hypoplasia
|
Partial Atrioventricular Canal Defect Without Ventricular Hypoplasia
|
|
Partial Atrioventricular Septal Defect With Balanced Ventricles
|
|
|
| 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
|
|
|
| Congenital Heart Defects, Multiple Types, 4 |
|
CHTD4
|
Complete Atrioventricular Septal Defect-Tetralogy Of Fallot
|
|
Cavc-Tetralogy Of Fallot
|
Complete Avsd-Tetralogy Of Fallot
|
|
Complete Atrioventricular Canal Defect-Tetralogy Of Fallot
|
Complete Atrioventricular Septal Defect With Ventricular Hypoplasia
|
|
Cavc With Ventricular Hypoplasia
|
Complete Avsd With Ventricular Hypoplasia
|
|
Complete Atrioventricular Canal Defect With Ventricular Hypoplasia
|
Complete Atrioventricular Septal Defect With Ventricular Imbalance
|
|
Unbalanced Complete Atrioventricular Canal
|
Heart Defects, Congenital, Multiple Types, Type 4
|
|
|
| Atrial Septal Defect 8 |
|
ASD8
|
Atrial Heart Septal Defect 8
|
|
Septal Defect, Atrial, Type 8
|
|
|
| Joubert Syndrome 18 |
|
JBTS18
|
Joubert Syndrome, Type 18
|
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
MRD23
|
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
|
|
Mental Retardation, Autosomal Dominant 23
|
Autosomal Dominant Non-Syndromic Intellectual Disability 23
|
|
Autosomal Dominant Intellectual Developmental Disorder 23
|
Autosomal Dominant Mental Retardation 23
|
|
Mental Retardation, Autosomal Dominant, Type 23
|
|
|
| Heart Septal Defect |
|
Septal Defect
|
Heart Septal Defects
|
|
Cardiac Septal Defects
|
Congenital Septal Defect Of Heart
|
|
|
| Chromosome 3pter-P25 Deletion Syndrome |
|
3p- Syndrome
|
3p Deletion Syndrome
|
|
Distal Monosomy 3p
|
Chromosome 3, Monosomy 3p
|
|
3p Partial Monosomy Syndrome
|
Chromosome 3, Deletion 3p
|
|
Chromosome 3p Deletion Syndrome
|
Del Syndrome
|
|
Deletion 3p
|
Monosomy 3p
|
|
Partial Monosomy 3p
|
Distal 3p Deletion
|
|
Monosomy 3pter
|
Telomeric Monosomy 3p
|
|
Chromosome Deletion Syndrome 3pter-P25
|
|
|
| Char Syndrome |
|
Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits
|
CHAR
|
|
|
| Heart Disease |
|
Heart Failure
|
Congenital Heart Disease
|
|
Heart Diseases
|
Congenital Heart Defects
|
|
Congenital Heart Defect
|
Heart Malformation
|
|
Congenital Anomaly Of Heart
|
Heart Defect
|
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
|
Heart Defects
|
Heart Disease, Congenital
|
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
| Down Syndrome |
|
Trisomy 21
|
Complete Trisomy 21 Syndrome
|
|
Down'S Syndrome
|
Trisomy 21 Syndrome
|
|
Down'S Syndrome - Trisomy 21
|
Downs Syndrome
|
|
G Trisomy
|
47,Xx,+21
|
|
47,Xy,+21
|
Trisomy G
|
|
Down Syndrome, Susceptibility To
|
Chromosome 21 Trisomy
|
|
Trisomy 21 Nos
|
Abnormal Autosomes 21
|
|
|
| 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
|
|
|
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition Of The Great Arteries
|
DTGA1
|
|
Dextro-Looped Transposition Of The Great Arteries
|
DTGA
|
|
Congenitally Uncorrected Transposition Of The Great Arteries
|
Congenitally Uncorrected Transposition Of The Great Vessels
|
|
D-Tga
|
Isolated Ventriculoarterial Discordance
|
|
Ventriculoarterial Discordance With Atrioventricular Concordance
|
Dextro-Transposition Of The Great Arteries
|
|
Transposition Of The Great Vessels
|
Great Vessels Transposition
|
|
Transposition Of The Great Arteries, Dextro-Looped 1
|
Arteries, Great, Transposition, Dextro-Looped
|
|
Ventriculoarterial Discordance, Isolated
|
D-Transposition Of The Great Arteries
|
|
Complete Transposition
|
Tga
|
|
Tgv
|
Transposition Of Great Vessels
|
|
Transposition Of The Great Arteries Dextro-Looped 1
|
Dextro-Looped Transposition Of The Great Arteries 1
|
|
Discordant Ventriculoarterial Connection
|
Complete Transposition Of Great Vessels
|
|
Great Vessels Complete Transposition
|
Total Great Vessel Transposition
|
|
Transposition Of Great Arteries
|
Complete Tga - [Transposition Of The Great Arteries]
|
|
Tga - [Transposition Of Great Arteries]
|
Tgv - [Transposition Of Great Vessels]
|
|
Transposition Of Great Vessels Nos
|
Transposed Vessels Nos
|
|
|
| Total Anomalous Pulmonary Venous Return 1 |
|
Scimitar Syndrome
|
Total Anomalous Pulmonary Venous Return
|
|
Anomalous Pulmonary Venous Return
|
Scimitar Anomaly
|
|
TAPVR1
|
Apvr
|
|
Halasz Syndrome
|
Hypogenetic Lung Syndrome
|
|
Pulmonary Venolobar Syndrome
|
TAPVR
|
|
Congenital Total Pulmonary Venous Return Anomaly
|
Congenital Venolobar Syndrome
|
|
Mirror-Image Lung Syndrome
|
Vena Cava Bronchovascular Syndrome
|
|
Pulmonary Venous Return Anomaly
|
Congenital Pulmonary Venolobar Syndrome
|
|
Epibronchial Right Pulmonary Vein Syndrome
|
|
|
| Renpenning Syndrome 1 |
|
Renpenning Syndrome
|
Golabi-Ito-Hall Syndrome
|
|
Mrxs3
|
Mrxs8
|
|
X-Linked Intellectual Disability Due To Pqbp1 Mutations
|
RENS1
|
|
Sutherland-Haan X-Linked Mental Retardation Syndrome
|
Shs
|
|
Mrx55
|
X-Linked Intellectual Disability, Renpenning Type
|
|
Sutherland-Haan Syndrome
|
Mental Retardation, X-Linked, Renpenning Type
|
|
Mental Retardation, X-Linked, With Spastic Diplegia
|
Mental Retardation, X-Linked, Syndromic 3
|
|
Mental Retardation, X-Linked, Syndromic 8
|
Mental Retardation, X-Linked 55
|
|
Syndromic X-Linked Mental Retardation 8
|
X-Linked Mental Retardation Renpenning Type
|
|
X-Linked Mental Retardation With Spastic Diplegia
|
Sutherland-Haan X-Linked Intellectual Disability Syndrome
|
|
X-Linked Intellectual Disability With Spastic Diplegia
|
Hamel Cerebropalatocardiac Syndrome
|
|
Porteous Syndrome
|
X-Linked Intellectual Deficit Due To Pqbp1 Mutations
|
|
X-Linked Intellectual Deficit, Renpenning Type
|
X-Linked Intellectual Disability, Sutherland-Haan Type
|
|
Hamel Cerebro-Palato-Cardiac Syndrome
|
Renpenning Syndrome, Type 1
|
|
|
| Atrial Septal Defect 5 |
|
ASD5
|
Atrial Heart Septal Defect 5
|
|
Septal Defect, Atrial, Type 5
|
|
|
| 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
|
|
|
| Chromosomal Duplication Syndrome |
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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]
|
|
|
| Chromosome 1p36 Deletion Syndrome |
|
1p36 Deletion Syndrome
|
Deletion 1p36
|
|
Monosomy 1p36
|
Subtelomeric 1p36 Deletion
|
|
Monosomy 1p36 Syndrome
|
Distal Monosomy 1p36
|
|
Del(1)(P36)
|
Deletion 1pter
|
|
Monosomy 1pter
|
|
|
| Left Ventricular Noncompaction |
|
Noncompaction Cardiomyopathy
|
Left Ventricular Hypertrabeculation
|
|
Lvnc
|
Spongy Myocardium
|
|
Isolated Noncompaction Of The Ventricular Myocardium
|
Left Ventricular Myocardial Noncompaction Cardiomyopathy
|
|
Fetal Myocardium
|
Honeycomb Myocardium
|
|
Hypertrabeculation Syndrome
|
Left Ventricular Non-Compaction
|
|
Lvht
|
Non-Compaction Of The Left Ventricular Myocardium
|
|
Ventricular Noncompaction, Left
|
Non-Compaction Cardiomyopathy
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
|
Autosomal Dominant Opitz G/Bbb Syndrome
|
|
Catch22
|
Cayler Cardiofacial Syndrome
|
|
Conotruncal Anomaly Face Syndrome
|
Digeorge Syndrome
|
|
Sedlackova Syndrome
|
Shprintzen Syndrome
|
|
Velocardiofacial Syndrome
|
22q11.2 Distal Deletion Syndrome
|
|
Distal 22q11.2 Microdeletion Syndrome
|
22q11.2ds
|
|
Vcfs
|
Velo-Cardio-Facial Syndrome
|
|
Distal Chromosome 22q11.2 Deletion Syndrome
|
Chromosome 22q11.2 Deletion Syndrome Distal
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Deletion 22q11.2 Syndrome
|
|
22q11ds
|
Catch 22
|
|
Digeorge Sequence
|
Microdeletion 22q11.2
|
|
Monosomy 22q11
|
Takao Syndrome
|
|
Distal Del(22)(Q11.2)
|
Distal Monosomy 22q11.2
|
|
Catch 22 Syndrome
|
Chromosome Deletion Syndrome 22q11.2, Distal
|
|
|
| Williams-Beuren Syndrome |
|
Williams Syndrome
|
WBS
|
|
Wms
|
Deletion 7q11.23
|
|
Monosomy 7q11.23
|
Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
|
Fanconi Schlesinger Syndrome
|
Beuren Syndrome
|
|
Elfin Facies Syndrome
|
Elfin Facies With Hypercalcemia
|
|
Hypercalcemia-Supravalvar Aortic Stenosis
|
Ws
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| Primary Ciliary Dyskinesia |
|
Immotile Cilia Syndrome
|
Kartagener Syndrome
|
|
Dextrocardia Bronchiectasis And Sinusitis
|
Pcd
|
|
Ciliary Motility Disorders
|
Ciliary Motility Disorder
|
|
Immotile Ciliary Syndrome
|
Ciliary Dyskinesia Primary
|
|
Ics
|
Polynesian Bronchiectasis
|
|
Dextrocardia-Bronchiectasis-Sinusitis Syndrome
|
Immotile Cilia Syndrome, Kartagener Type
|
|
Primary Ciliary Dyskinesia And Situs Inversus
|
Primary Ciliary Dyskinesia, Kartagener Type
|
|
Siewert Syndrome
|
Dyskinesia, Ciliary, Primary
|
|
|
