| 疾病名称 |
别名 |
|
| Ellis-Van Creveld Syndrome |
|
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
|
EVC
|
Ellis Van Creveld Syndrome
|
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
| Weyers Acrofacial Dysostosis |
|
Curry-Hall Syndrome
|
Weyers Acrodental Dysostosis
|
|
WAD
|
Acrodental Dysostosis Of Weyers
|
|
Acrofacial Dysostosis, Weyers Type
|
Acrofacial Dysostosis Of Weyers
|
|
Curry Hall Syndrome
|
|
|
| Short-Rib Thoracic Dysplasia 12 |
|
Beemer-Langer Syndrome
|
Type Iv Short Rib Polydactyly Syndrome
|
|
Short Rib-Polydactyly Syndrome Type 4
|
Short Rib-Polydactyly Syndrome, Beemer Type
|
|
SRTD12
|
Short Rib-Polydactyly Syndrome, Type Iv
|
|
Srps4
|
Srps Iv
|
|
Short Rib Syndrome, Beemer Type
|
Beemer Langer Syndrome
|
|
Srps Type 4
|
Short Rib Polydactyly Syndrome Beemer-Langer Type
|
|
Short Rib-Polydactyly Syndrome Beemer Type
|
Short Rib-Polydactyly Syndrome Type Iv
|
|
Short Rib-Polydactyly Syndrome, Beemer-Langer Type
|
|
|
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Majewski Syndrome
|
SRTD6
|
|
Srps2a
|
Short Rib-Polydactyly Syndrome, Majewski Type
|
|
Polydactyly With Neonatal Chondrodystrophy, Type Ii
|
Short Rib-Polydactyly Syndrome Type Iia
|
|
Short Rib-Polydactyly Syndrome Type 2
|
Short Rib-Polydactyly Syndrome Type Ii
|
|
Short Rib-Polydactyly Syndrome, Type Ii
|
Srps, Type Ii
|
|
Short Rib-Polydactyly Syndrome, Type Iia
|
Polydactyly With Neonatal Chondrodystrophy Type 2
|
|
Srps Type 2
|
Short Rib-Polydactyly Syndrome Majewski Type
|
|
Polydactyly With Neonatal Chondrodystrophy Type Ii
|
Short Rib-Polydactyly Syndrome 2a
|
|
Srps Type Ii
|
|
|
| Asphyxiating Thoracic Dystrophy |
|
Jeune Thoracic Dystrophy
|
Jeune Syndrome
|
|
Asphyxiating Thoracic Dysplasia
|
Short-Rib Thoracic Dysplasia With Or Without Polydactyly
|
|
Thoracic Pelvic Phalangeal Dystrophy
|
Asphyxiating Thoracic Chondrodystrophy
|
|
Atd
|
Chondroectodermal Dysplasia-Like Syndrome
|
|
Infantile Thoracic Dystrophy
|
Jeune Thoracic Dysplasia
|
|
Thoracic Asphyxiant Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Short-Rib Thoracic Dysplasia Without Polydactyly
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
|
Asphyxiating Thorax Dystrophy
|
|
|
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 1
|
Jeune Syndrome
|
|
SRTD1
|
Atd1
|
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Atd
|
Asphyxiating Thoracic Dystrophy
|
|
Chondroectodermal Dysplasia-Like Syndrome
|
Infantile Thoracic Dystrophy
|
|
Jeune'S Syndrome
|
Thoracic Pelvic Phalangeal Dystrophy
|
|
Jeune Thoracic Dystrophy
|
|
|
| Acrofacial Dysostosis |
|
|
| Dysostosis |
|
|
| Meckel Syndrome, Type 1 |
|
Meckel-Gruber Syndrome
|
Meckel Syndrome
|
|
Dysencephalia Splanchnocystica
|
Meckel Syndrome 1
|
|
MKS1
|
Mks
|
|
Gruber Syndrome
|
Meckel-Gruber Syndrome, Type 1
|
|
Mes
|
Dysencephalia Splachnocystica
|
|
Meckel Gruber Syndrome
|
Meckel Syndrome Type 1
|
|
|
| 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
|
|
|
| Ectodermal Dysplasia |
|
Congenital Ectodermal Defect
|
Congenital Ectodermal Dysplasia
|
|
Ectodermal Dysplasia Syndrome
|
Dysplasia, Ectodermal
|
|
|
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 3
|
Saldino-Noonan Syndrome
|
|
SRTD3
|
Atd3
|
|
Srps1
|
Srps3
|
|
Verma-Naumoff Syndrome
|
Srps2b
|
|
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
|
Short Rib-Polydactyly Syndrome, Type I
|
|
Polydactyly With Neonatal Chondrodystrophy, Type I
|
Polydactyly With Neonatal Chondrodystrophy, Type Iii
|
|
Short Rib-Polydactyly Syndrome, Type Iib
|
Short Rib-Polydactyly Syndrome Type 3
|
|
Polydactyly With Neonatal Chondrodystrophy Type Iii
|
Short Rib-Polydactyly Syndrome Type Iii
|
|
Short Rib-Polydactyly Syndrome Type 1
|
Short Rib-Polydactyly Syndrome, Saldino-Noonan Type
|
|
Majewski Syndrome
|
Short Rib-Polydactyly Syndrome, Type Iii
|
|
Type I Short Rib Polydactyly Syndrome
|
Srps Type 3
|
|
Short Rib Polydactyly Syndrome Verma Naumoff Type
|
Verma Naumoff Syndrome
|
|
Polydactyly With Neonatal Chondrodystrophy Type 1
|
Srps Type 1
|
|
Short Rib-Polydactyly Syndrome Saldino-Noonan Type
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Jeune Syndrome 3
|
|
Polydactyly With Neonatal Chondrodystrophy Type I
|
Short Rib-Polydactyly Syndrome Type I
|
|
Short Rib-Polydactyly Syndrome Type Iib
|
Srps Type Iib
|
|
Srps Type Iii
|
|
|
| Boomerang Dysplasia |
|
BOOMD
|
Boomerang-Like Skeletal Dysplasia
|
|
Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies
|
Piepkorn Dysplasia
|
|
Dysplasia, Boomerang
|
|
|
| Acromesomelic Dysplasia 2c |
|
Acromesomelic Dysplasia, Hunter-Thompson Type
|
Acromesomelic Dysplasia 2c, Hunter-Thompson Type
|
|
AMD2C
|
Acromesomelic Dwarfism
|
|
Amdh Acromesomelic Dwarfism
|
Acromesomelic Dysplasia-2c
|
|
Acromesomelic Dysplasia Hunter Thompson Type
|
Acromesomelic Chondrodysplasia, Hunter-Thompson Type
|
|
Amdh
|
Dysplasia, Acromesomelic, Type 2c, Hunter-Thompson
|
|
Acromesomelic Dysplasia Hunter-Thompson Type
|
|
|
| Joubert Syndrome 32 |
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Anodontia |
|
Complete Absence Of Teeth
|
Developmental Absence Of Tooth
|
|
Total Anodontia Of Permanent And Deciduous Teeth
|
Absence Of Permanent Teeth
|
|
Anodontia Of Permanent Dentition
|
Agomphiasis
|
|
Agomphosis
|
Anodontism
|
|
Complete Developmental Absence Of Teeth
|
Congenital Absence Of Teeth
|
|
Congenital Complete Absence Of Teeth
|
Congenital Edentia
|
|
Absence Of Teeth
|
Absent Teeth
|
|
Congenital Partial Absence Of Teeth
|
Partial Absence Of Teeth
|
|
Partial Anodontia
|
|
|
| Oculoauricular Syndrome |
|
OCACS
|
Schorderet-Munier-Franceschetti Syndrome
|
|
Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear
|
Oculoauricular Syndrome, Schorderet Type
|
|
Oculo-Auricular Syndrome
|
|
|
| Clouston Syndrome |
|
Ectodermal Dysplasia 2, Clouston Type
|
Hidrotic Ectodermal Dysplasia
|
|
ECTD2
|
Clouston'S Hidrotic Ectodermal Dysplasia
|
|
Hidrotic Ectodermal Dysplasia Syndrome
|
Clouston Hidrotic Ectodermal Dysplasia
|
|
Clouston'S Syndrome
|
Ed2
|
|
Ectodermal Dysplasia, Hidrotic
|
Hed2
|
|
Ectodermal Dysplasia
|
Ectodermal Dysplasia, Hidrotic, Autosomal Dominant
|
|
Ectodermal Dysplasia, Hidrotic, 2, Formerly
|
Hed2, Formerly
|
|
Autosomal Dominant Hidrotic Ectodermal Dysplasia
|
Hed
|
|
Hidrotic Ectodermal Dysplasia, Autosomal Dominant
|
Hidrotic Ectodermal Dysplasia 2
|
|
Ectodermal Dysplasia 2 Hidrotic
|
Ectodermal Dysplasia Hidrotic Autosomal Dominant
|
|
Dysplasia, Ectodermal, Hidrotic
|
|
|
| Mckusick-Kaufman Syndrome |
|
MKKS
|
Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation
|
|
Hmcs
|
Kaufman-Mckusick Syndrome
|
|
Hydrometrocolpos Syndrome
|
Hydrometrocolpos-Postaxial Polydactyly Syndrome
|
|
Kaufman Mckusick Syndrome
|
Mckusick Kaufman Syndrome
|
|
Mks
|
|
|
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Conorenal Syndrome
|
Saldino-Mainzer Syndrome
|
|
SRTD9
|
Mainzer-Saldino Syndrome
|
|
Mzsds
|
Mainzer-Saldino Disease
|
|
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia
|
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia
|
|
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy
|
Mainzer Saldino Syndrome
|
|
Conorenal Dysplasia
|
Mainzer-Saldino Chondrodysplasia
|
|
Saldino-Mainzer Dysplasia
|
Short-Rib Thoracic Dysplasia 9
|
|
Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome
|
Mss
|
|
Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia
|
|
|
| Cranioectodermal Dysplasia |
|
Sensenbrenner Syndrome
|
Levin Syndrome 1
|
|
Ced
|
Levin Syndrome
|
|
Dysplasia, Cranioectodermal
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
|
Sdty1
|
Zygodactyly
|
|
Syndactyly, Type I
|
Sd1
|
|
Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
|
Non-Syndromic Syndactyly
|
Symphalangy
|
|
Webbing Of Digits
|
Syndactyly, Type 1
|
|
|
| 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
|
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| Bone Development Disease |
|
|
| Heart Septal Defect |
|
Septal Defect
|
Heart Septal Defects
|
|
Cardiac Septal Defects
|
Congenital Septal Defect Of Heart
|
|
|
| Larsen Syndrome |
|
LRS
|
Larsen Syndrome, Dominant Type
|
|
Dominant Larsen Syndrome
|
Autosomal Dominant Larsen Syndrome
|
|
Larsens Syndrome
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| 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
|
|
|
| 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
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| 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
|
|
|
| Orofacial Cleft |
|
|
| 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]
|
|
|
| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
|
Cpd4
|
Cors1
|
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
|
Joubert'S Syndrome
|
|
|
