疾病名称 |
别名 |
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Atrioventricular Septal Defect 2 |
Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome
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Atrioventricular Septal Defect, Susceptibility To, 2
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AVSD2
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Septal Defect, Atrioventricular, Type 2
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Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia |
Balanced Partial Atrioventricular Canal
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Pavc Without Ventricular Hypoplasia
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Partial Avsd Without Ventricular Hypoplasia
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Partial Atrioventricular Canal Defect Without Ventricular Hypoplasia
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Partial Atrioventricular Septal Defect With Balanced Ventricles
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Atrioventricular Septal Defect |
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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Congenital Heart Defects, Multiple Types, 4 |
CHTD4
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Complete Atrioventricular Septal Defect-Tetralogy Of Fallot
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Cavc-Tetralogy Of Fallot
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Complete Avsd-Tetralogy Of Fallot
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Complete Atrioventricular Canal Defect-Tetralogy Of Fallot
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Complete Atrioventricular Septal Defect With Ventricular Hypoplasia
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Cavc With Ventricular Hypoplasia
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Complete Avsd With Ventricular Hypoplasia
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Complete Atrioventricular Canal Defect With Ventricular Hypoplasia
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Complete Atrioventricular Septal Defect With Ventricular Imbalance
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Unbalanced Complete Atrioventricular Canal
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Heart Defects, Congenital, Multiple Types, Type 4
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Atrial Septal Defect 8 |
ASD8
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Atrial Heart Septal Defect 8
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Septal Defect, Atrial, Type 8
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Joubert Syndrome 18 |
JBTS18
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Joubert Syndrome, Type 18
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Intellectual Developmental Disorder, Autosomal Dominant 23 |
MRD23
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Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
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Mental Retardation, Autosomal Dominant 23
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Autosomal Dominant Non-Syndromic Intellectual Disability 23
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Autosomal Dominant Intellectual Developmental Disorder 23
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Autosomal Dominant Mental Retardation 23
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Mental Retardation, Autosomal Dominant, Type 23
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Heart Septal Defect |
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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Chromosome 3pter-P25 Deletion Syndrome |
3p- Syndrome
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3p Deletion Syndrome
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Distal Monosomy 3p
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Chromosome 3, Monosomy 3p
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3p Partial Monosomy Syndrome
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Chromosome 3, Deletion 3p
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Chromosome 3p Deletion Syndrome
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Del Syndrome
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Deletion 3p
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Monosomy 3p
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Partial Monosomy 3p
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Distal 3p Deletion
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Monosomy 3pter
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Telomeric Monosomy 3p
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Chromosome Deletion Syndrome 3pter-P25
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Char Syndrome |
Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits
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CHAR
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Heart Disease |
Heart Failure
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Congenital Heart Disease
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Heart Diseases
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Congenital Heart Defects
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Congenital Heart Defect
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Heart Malformation
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Congenital Anomaly Of Heart
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Heart Defect
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Heart-Congenital Defect
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Congenital Heart Disorder
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Heart Defects Congenital
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Heart Defects, Congenital
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Heart Defects
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Heart Disease, Congenital
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Disease, Heart, Congenital
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Congestive Heart Failure
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Down Syndrome |
Trisomy 21
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Complete Trisomy 21 Syndrome
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Down'S Syndrome
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Trisomy 21 Syndrome
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Down'S Syndrome - Trisomy 21
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Downs Syndrome
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G Trisomy
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47,Xx,+21
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47,Xy,+21
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Trisomy G
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Down Syndrome, Susceptibility To
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Chromosome 21 Trisomy
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Trisomy 21 Nos
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Abnormal Autosomes 21
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Patent Ductus Arteriosus 1 |
Patent Ductus Arteriosus
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PDA1
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Pda
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Ductus Arteriosus, Patent
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Patent Ductus Arteriosus, Susceptibility To
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Patent Ductus Botalli
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Patency Of The Ductus Arteriosus
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Patent Ductus Arteriosus Familial
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Ductus Arteriosus Patent
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Patent Ductus Arteriosus - Persisting Type
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Transposition Of The Great Arteries, Dextro-Looped |
Transposition Of The Great Arteries
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DTGA1
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Dextro-Looped Transposition Of The Great Arteries
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DTGA
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Congenitally Uncorrected Transposition Of The Great Arteries
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Congenitally Uncorrected Transposition Of The Great Vessels
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D-Tga
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Isolated Ventriculoarterial Discordance
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Ventriculoarterial Discordance With Atrioventricular Concordance
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Dextro-Transposition Of The Great Arteries
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Transposition Of The Great Vessels
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Great Vessels Transposition
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Transposition Of The Great Arteries, Dextro-Looped 1
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Arteries, Great, Transposition, Dextro-Looped
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Ventriculoarterial Discordance, Isolated
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D-Transposition Of The Great Arteries
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Complete Transposition
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Tga
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Tgv
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Transposition Of Great Vessels
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Transposition Of The Great Arteries Dextro-Looped 1
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Dextro-Looped Transposition Of The Great Arteries 1
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Discordant Ventriculoarterial Connection
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Complete Transposition Of Great Vessels
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Great Vessels Complete Transposition
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Total Great Vessel Transposition
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Transposition Of Great Arteries
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Complete Tga - [Transposition Of The Great Arteries]
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Tga - [Transposition Of Great Arteries]
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Tgv - [Transposition Of Great Vessels]
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Transposition Of Great Vessels Nos
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Transposed Vessels Nos
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Total Anomalous Pulmonary Venous Return 1 |
Scimitar Syndrome
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Total Anomalous Pulmonary Venous Return
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Anomalous Pulmonary Venous Return
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Scimitar Anomaly
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TAPVR1
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Apvr
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Halasz Syndrome
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Hypogenetic Lung Syndrome
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Pulmonary Venolobar Syndrome
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TAPVR
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Congenital Total Pulmonary Venous Return Anomaly
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Congenital Venolobar Syndrome
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Mirror-Image Lung Syndrome
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Vena Cava Bronchovascular Syndrome
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Pulmonary Venous Return Anomaly
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Congenital Pulmonary Venolobar Syndrome
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Epibronchial Right Pulmonary Vein Syndrome
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Renpenning Syndrome 1 |
Renpenning Syndrome
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Golabi-Ito-Hall Syndrome
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Mrxs3
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Mrxs8
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X-Linked Intellectual Disability Due To Pqbp1 Mutations
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RENS1
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Sutherland-Haan X-Linked Mental Retardation Syndrome
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Shs
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Mrx55
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X-Linked Intellectual Disability, Renpenning Type
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Sutherland-Haan Syndrome
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Mental Retardation, X-Linked, Renpenning Type
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Mental Retardation, X-Linked, With Spastic Diplegia
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Mental Retardation, X-Linked, Syndromic 3
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Mental Retardation, X-Linked, Syndromic 8
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Mental Retardation, X-Linked 55
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Syndromic X-Linked Mental Retardation 8
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X-Linked Mental Retardation Renpenning Type
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X-Linked Mental Retardation With Spastic Diplegia
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Sutherland-Haan X-Linked Intellectual Disability Syndrome
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X-Linked Intellectual Disability With Spastic Diplegia
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Hamel Cerebropalatocardiac Syndrome
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Porteous Syndrome
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X-Linked Intellectual Deficit Due To Pqbp1 Mutations
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X-Linked Intellectual Deficit, Renpenning Type
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X-Linked Intellectual Disability, Sutherland-Haan Type
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Hamel Cerebro-Palato-Cardiac Syndrome
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Renpenning Syndrome, Type 1
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Atrial Septal Defect 5 |
ASD5
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Atrial Heart Septal Defect 5
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Septal Defect, Atrial, Type 5
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Atrial Heart Septal Defect |
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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Chromosomal Duplication Syndrome |
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Ventricular Septal Defect |
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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Double Outlet Right Ventricle |
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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Hypoplastic Left Heart Syndrome |
Hlhs
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Heart, Hypoplastic Left, Syndrome
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Hypoplasia Of The Left Heart
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Left Heart Hypoplasia Syndrome
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Hlhs - [Hypoplastic Left Heart Syndrome]
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Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
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Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome
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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
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Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
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Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
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Tetralogy Of Fallot |
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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Chromosome 1p36 Deletion Syndrome |
1p36 Deletion Syndrome
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Deletion 1p36
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Monosomy 1p36
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Subtelomeric 1p36 Deletion
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Monosomy 1p36 Syndrome
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Distal Monosomy 1p36
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Del(1)(P36)
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Deletion 1pter
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Monosomy 1pter
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Left Ventricular Noncompaction |
Noncompaction Cardiomyopathy
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Left Ventricular Hypertrabeculation
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Lvnc
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Spongy Myocardium
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Isolated Noncompaction Of The Ventricular Myocardium
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Left Ventricular Myocardial Noncompaction Cardiomyopathy
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Fetal Myocardium
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Honeycomb Myocardium
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Hypertrabeculation Syndrome
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Left Ventricular Non-Compaction
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Lvht
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Non-Compaction Of The Left Ventricular Myocardium
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Ventricular Noncompaction, Left
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Non-Compaction Cardiomyopathy
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Rasopathy |
Ras/Mitogen-Activated Protein Kinase Syndrome
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Chromosome 22q11.2 Deletion Syndrome, Distal |
22q11.2 Deletion Syndrome
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Autosomal Dominant Opitz G/Bbb Syndrome
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Catch22
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Cayler Cardiofacial Syndrome
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Conotruncal Anomaly Face Syndrome
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Digeorge Syndrome
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Sedlackova Syndrome
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Shprintzen Syndrome
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Velocardiofacial Syndrome
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22q11.2 Distal Deletion Syndrome
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Distal 22q11.2 Microdeletion Syndrome
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22q11.2ds
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Vcfs
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Velo-Cardio-Facial Syndrome
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Distal Chromosome 22q11.2 Deletion Syndrome
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Chromosome 22q11.2 Deletion Syndrome Distal
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Chromosome 22q11.2 Deletion Syndrome
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Deletion 22q11.2 Syndrome
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22q11ds
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Catch 22
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Digeorge Sequence
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Microdeletion 22q11.2
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Monosomy 22q11
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Takao Syndrome
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Distal Del(22)(Q11.2)
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Distal Monosomy 22q11.2
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Catch 22 Syndrome
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Chromosome Deletion Syndrome 22q11.2, Distal
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Williams-Beuren Syndrome |
Williams Syndrome
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WBS
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Wms
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Deletion 7q11.23
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Monosomy 7q11.23
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Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
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Fanconi Schlesinger Syndrome
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Beuren Syndrome
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Elfin Facies Syndrome
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Elfin Facies With Hypercalcemia
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Hypercalcemia-Supravalvar Aortic Stenosis
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Ws
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Noonan Syndrome 1 |
Noonan Syndrome
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NS1
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Male Turner Syndrome
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Female Pseudo-Turner Syndrome
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Turner Phenotype With Normal Karyotype
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Noonan Syndrome With Pigmented Villonodular Synovitis
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Turner'S Phenotype, Karyotype Normal
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Familial Turner Syndrome
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Noonan'S Syndrome
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Noonan-Ehmke Syndrome
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Ns
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Pseudo-Ullrich-Turner Syndrome
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Turner Syndrome In Female With X Chromosome
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Turner-Like Syndrome
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Ullrich-Noonan Syndrome
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Noonan-Like/Multiple Giant Cell Lesion Syndrome
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Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
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Pterygium Colli Syndrome
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Noonan Syndrome, Type 1
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Turner Syndrome, Male
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Primary Ciliary Dyskinesia |
Immotile Cilia Syndrome
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Kartagener Syndrome
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Dextrocardia Bronchiectasis And Sinusitis
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Pcd
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Ciliary Motility Disorders
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Ciliary Motility Disorder
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Immotile Ciliary Syndrome
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Ciliary Dyskinesia Primary
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Ics
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Polynesian Bronchiectasis
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Dextrocardia-Bronchiectasis-Sinusitis Syndrome
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Immotile Cilia Syndrome, Kartagener Type
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Primary Ciliary Dyskinesia And Situs Inversus
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Primary Ciliary Dyskinesia, Kartagener Type
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Siewert Syndrome
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Dyskinesia, Ciliary, Primary
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