| 疾病名称 |
别名 |
|
| Cornelia De Lange Syndrome 1 |
|
De Lange Syndrome
|
CDLS1
|
|
Cdl
|
Cdls
|
|
Typus Degenerativus Amstelodamensis
|
Brachmann-De Lange Syndrome
|
|
Bdls
|
Amstelodamensis Typus Degenerativus
|
|
Cornelia De Lange Syndrome, Type 1
|
|
|
| Cornelia De Lange Syndrome |
|
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
|
Brachmann-De Lange Syndrome
|
Cdls
|
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| 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]
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Chromosome 5p13 Duplication Syndrome |
|
5p13 Microduplication Syndrome
|
Trisomy 5p13
|
|
Dup(5)(P13)
|
|
|
| Plagiocephaly |
|
Asymmetric Head
|
Lateral Curvatures Of Skull Unequal
|
|
Unicoronal Synostosis
|
|
|
| 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
|
|
|
| Vesicoureteral Reflux |
|
|
| 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
|
|
|
| Brachydactyly |
|
|
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
GDACCF
|
Developmental Disabilities
|
|
|
| Familial Isolated Trichomegaly |
|
|
| Cornelia De Lange Syndrome 2 |
|
CDLS2
|
Cornelia De Lange Syndrome, X-Linked
|
|
Cdls, X-Linked
|
Cornelia De Lange Syndrome X-Linked
|
|
Cornelia De Lange Syndrome, Type 2
|
Congenital Muscular Hypertrophy-Cerebral Syndrome
|
|
|
| Roberts-Sc Phocomelia Syndrome |
|
Roberts Syndrome
|
Sc Phocomelia Syndrome
|
|
RBS
|
Long Bone Deficiencies Associated With Cleft Lip-Palate
|
|
Sc Pseudothalidomide Syndrome
|
Appelt-Gerken-Lenz Syndrome
|
|
Pseudothalidomide Syndrome
|
Tetraphocomelia-Cleft Palate Syndrome
|
|
Hypomelia Hypotrichosis Facial Hemangioma Syndrome
|
Roberts Syndrome/Sc Phocomelia
|
|
Roberts Tetraphocomelia Syndrome
|
Sc Syndrome
|
|
Sc Phocomelia
|
Sc Disease
|
|
Sc
|
Hemoglobin Sc Disease
|
|
|
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Cornelia De Lange Syndrome 3
|
CDLS3
|
|
Cornelia De Lange Syndrome, Type 3
|
|
|
| Spinocerebellar Ataxia 44 |
|
|
| Partial Trisomy Distal 4q |
|
Distal Trisomy 4q
|
Chromosome 4, Partial Trisomy 4q
|
|
Distal 4q Trisomy
|
Dup Syndrome, Partial
|
|
Duplication 4q Syndrome, Partial
|
Partial Trisomy 4q Syndrome
|
|
Distal Duplication 4q
|
Telomeric Duplication 4q
|
|
Trisomy 4qter
|
|
|
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cornelia De Lange Syndrome 4
|
CDLS4
|
|
Cornelia De Lange Syndrome, Type 4
|
|
|
| Chronic Atrial And Intestinal Dysrhythmia |
|
CAID
|
Caid Syndrome
|
|
Cohesinopathy Affecting Heart And Gut Rhythm
|
Chronic Atrial Intestinal Dysrhythmia Syndrome
|
|
Chronic Atrial And Intestinal Dysrhythmia Syndrome
|
Chronic Atrial Dysrhythmia-Intestinal Motility Disorder
|
|
Dysrhythmia, Atrial And Intestinal, Chronic
|
|
|
| Severe Congenital Neutropenia 2 |
|
|
| Eyelid Disease |
|
Eyelid Diseases
|
Eyelid Disorders
|
|
|
| Kbg Syndrome |
|
KBGS
|
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
|
|
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
|
|
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome
|
Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
|
|
|
| Warsaw Breakage Syndrome |
|
|
| Non-Syndromic X-Linked Intellectual Disability 107 |
|
Mrx107
|
X-Linked Mental Retardation 107
|
|
|
| Diaphragm Disease |
|
Abnormality Of The Diaphragm
|
Disease Of Diaphragm
|
|
Diaphragmatic Disorder
|
Disorder Of Diaphragm
|
|
|
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Midas Syndrome
|
Mcops7
|
|
Mls Syndrome
|
Microphthalmia, Syndromic 7
|
|
Microphthalmia With Linear Skin Defects Syndrome
|
Microphthalmia With Linear Skin Defects
|
|
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome
|
Syndromic Microphthalmia Type 7
|
|
LSDMCA1
|
Mls
|
|
Microphthalmia, Dermal Aplasia, And Sclerocornea
|
Microphthalmia With Linear Skin Defect Syndrome
|
|
Syndromic Microphthalmia 7
|
Linear Skin Defects With Multiple Congenital Anomalies
|
|
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome
|
Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
|
|
Micropthalmia Syndromic 7
|
Microphthalmia Syndromic 7
|
|
Microphthalmia With Linear Skin Lesions Syndrome
|
Syndromic Microphthalmia-7
|
|
Microphthalmia, Dermal Aplasia And Sclerocornea
|
Microphthalmia, Syndromic, 7
|
|
Midas
|
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
Rubinstein-Taybi Syndrome
|
Broad Thumb-Hallux Syndrome
|
|
Chromosome 16p13.3 Deletion Syndrome
|
Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
|
|
Rubinstein Syndrome
|
Broad Thumbs-Halluces Syndrome
|
|
Rsts
|
Rubinstein-Taybi Deletion Syndrome
|
|
Rsts Deletion Syndrome
|
Proximal Chromosome 16p13.3 Deletion Syndrome
|
|
16p13.3 Deletion Syndrome
|
Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
|
|
Rts
|
|
|
| Glass Syndrome |
|
Chromosome 2q32-Q33 Deletion Syndrome
|
Satb2-Associated Syndrome
|
|
2q33.1 Microdeletion Syndrome
|
Sas
|
|
2q32-Q33 Microdeletion Syndrome
|
2q32q33 Microdeletion Syndrome
|
|
Monosomy 2q32
|
Monosomy 2q32-Q33
|
|
Monosomy 2q32q33
|
2q32 Deletion Syndrome
|
|
Del(2)(Q32)
|
Del(2)(Q32q33)
|
|
GLASS
|
2q32q33 Microdeletion Syndromes
|
|
Satb2 Syndrome
|
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
|
|
Del(2)(Q33.1)
|
Monosomy 2q33.1
|
|
Satb2-Associated Syndrome Due To A Pathogenic Variant
|
Satb2-Associated Syndrome Due To A Point Mutation
|
|
Satb2 Associated Disorder
|
|
|
| Autosomal Dominant Intellectual Developmental Disorder 31 |
|
Autosomal Dominant Non-Syndromic Intellectual Disability 31
|
Autosomal Dominant Mental Retardation 31
|
|
Mrd31
|
|
|
| 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
|
|
|
| Bjornstad Syndrome |
|
BJS
|
Pili Torti And Nerve Deafness
|
|
Ptd
|
Pili Torti-Deafness Syndrome
|
|
Deafness-Pili Torti-Hypogonadism Syndrome
|
Deafness And Pili Torti, Bjornstad Type
|
|
Pili Torti-Sensorineural Hearing Loss
|
Björnstad Syndrome
|
|
Ptnd
|
Hearing Loss-Pili Torti-Hypogonadism Syndrome
|
|
Bjoernstad Syndrome
|
|
|
| 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
|
|
|
| Diaphragmatic Eventration |
|
|
| Autosomal Dominant Intellectual Developmental Disorder |
|
Autosomal Dominant Mental Retardation
|
Autosomal Dominant Non-Syndromic Mental Retardation
|
|
Autosomal Dominant Non-Syndromic Intellectual Disability
|
Mental Retardation, Autosomal Dominant
|
|
|
| Hypertrichosis |
|
|
| 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
|
|
|
| Orofacial Cleft |
|
|
| 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
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
