| 疾病名称 |
别名 |
|
| Robinow Syndrome, Autosomal Dominant 2 |
|
Autosomal Dominant Robinow Syndrome 2
|
DRS2
|
|
Robinow, Autosomal Dominant Syndrome, Type 2
|
|
|
| Robinow Syndrome, Autosomal Dominant 1 |
|
Autosomal Dominant Robinow Syndrome 1
|
DRS1
|
|
Robinow Dwarfism
|
Fetal Face Syndrome
|
|
Acral Dysostosis With Facial And Genital Abnormalities
|
Robinow, Autosomal Dominant Syndrome, Type 1
|
|
|
| Robinow Syndrome |
|
Acral Dysostosis With Facial And Genital Abnormalities
|
Fetal Face Syndrome
|
|
Robinow Dwarfism
|
Mesomelic Dwarfism-Small Genitalia Syndrome
|
|
Robinow-Silverman-Smith Syndrome
|
Costovertebral Segmentation Defect With Mesomelia
|
|
Covesdem Syndrome
|
Robinow'S Syndrome
|
|
Robinow-Silverman Syndrome
|
|
|
| Autosomal Dominant Robinow Syndrome |
|
Fetal Face Syndrome
|
Robinow Syndrome, Autosomal Dominant
|
|
|
| Robinow Syndrome, Autosomal Recessive 1 |
|
Robinow Syndrome, Autosomal Recessive
|
Autosomal Recessive Robinow Syndrome
|
|
Covesdem Syndrome
|
RRS1
|
|
Costovertebral Segmentation Defect-Mesomelia Syndrome
|
Rrs
|
|
Costovertebral Segmentation Defect With Mesomelia, Formerly
|
Covesdem Syndrome, Formerly
|
|
Costovertebral Segmentation Defect With Mesomelia
|
Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
|
|
Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly
|
Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
|
|
Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly
|
Robinow, Autosomal Recessive Syndrome, Type 1
|
|
|
| Charcot-Marie-Tooth Disease Type 2a |
|
Charcot-Marie-Tooth Disease, Type 2a
|
Cmt 2a
|
|
Charcot Marie Tooth Disease Type 2a
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a
|
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2a
|
Hmsn Iia
|
|
Hereditary Motor And Sensory Neuropathy 2 A
|
|
|
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies
|
SSFSC2
|
|
Ssfsc
|
Doid:0112358
|
|
|
| Neural Tube Defects |
|
Spina Bifida
|
Neural Tube Defect
|
|
NTD
|
Neural Tube Defects, Susceptibility To
|
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Spinal Dysraphism
|
Spina Bifida, Susceptibility To
|
|
Rachischisis
|
Cleft Spine
|
|
Open Spine
|
Hydrocele Spinalis
|
|
Neural Tube Defect Nos
|
Sb - [Spina Bifida]
|
|
Spinal Hernia Nos
|
Spinal Fissure Nos
|
|
|
| Familial Adenomatous Polyposis |
|
Adenomatous Polyposis Coli
|
Fap
|
|
Familial Polyposis Coli
|
Familial Multiple Polyposis Syndrome
|
|
Adenomatous Polyposis Of The Colon
|
Familial Intestinal Polyposis
|
|
Fpc
|
Familial Adenomatous Polyposis Of The Colon
|
|
Familial Multiple Polyposis
|
Familial Polyposis Of The Colon
|
|
Hereditary Polyposis Coli
|
Polyposis, Adenomatous Intestinal
|
|
Adenomatous Familial Polyposis
|
Adenomatous Familial Polyposis Syndrome
|
|
Myh-Associated Polyposis
|
Colorectal Adenomatous Polyposis
|
|
Adenomatous Polyposis, Familial
|
Mutyh-Associate Polyposis
|
|
|
| Digeorge Syndrome |
|
Chromosome 22q11.2 Deletion Syndrome
|
DGS
|
|
Hypoplasia Of Thymus And Parathyroids
|
Third And Fourth Pharyngeal Pouch Syndrome
|
|
22q11.2 Deletion Syndrome
|
Digeorge Sequence
|
|
Digeorge'S Syndrome
|
Pharyngeal Pouch Syndrome
|
|
Di-George Syndrome
|
Shprintzen Syndrome
|
|
|
| Brachydactyly, Type B1 |
|
Brachydactyly Type B1
|
Brachydactyly Type B
|
|
BDB1
|
Brachydactyly, Type B
|
|
Bdb
|
Brachydactyly B1
|
|
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| Omodysplasia |
|
Omodysplasia Type 1
|
Omodysplasia 2
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| Colorectal Cancer |
|
Colon Cancer
|
Colorectal Carcinoma
|
|
Colon Carcinoma
|
Colorectal Cancer, Susceptibility To
|
|
Carcinoma Of Colon
|
CRC
|
|
Colorectal Cancer With Chromosomal Instability, Somatic
|
Colon Cancer, Somatic
|
|
Colon Cancer, Susceptibility To
|
Colonic Neoplasms
|
|
Colorectal Neoplasms
|
Colorectal Cancer, Somatic
|
|
Colon Cancer, Advanced, Somatic
|
Colonic Carcinoma
|
|
Colorectal Carcinomas
|
Colon Cancers
|
|
Colorectal Cancers
|
Cancer, Colorectal, Somatic
|
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Cancer, Colon
|
Cancer, Colorectal, Susceptibility To
|
|
Colorectal Neoplasm
|
Colonic Neoplasm
|
|
Malignant Tumor Of Colon
|
|
|
| Dentatorubral-Pallidoluysian Atrophy |
|
DRPLA
|
Naito-Oyanagi Disease
|
|
Haw River Syndrome
|
Myoclonic Epilepsy With Choreoathetosis
|
|
Nod
|
Ataxia, Chorea, Seizures, And Dementia
|
|
Dentatorubropallidoluysian Atrophy
|
Hrs
|
|
Naito Oyanagi Disease
|
Dentatorubral Pallidoluysian Atrophy
|
|
Dentatorubro-Pallidoluysian Atrophy
|
Myoclonic Epilepsies, Progressive
|
|
Atrophy, Pallidoluysian, Dentatorubral
|
|
|
| Tethered Spinal Cord Syndrome |
|
Spinal Dysraphism
|
Tethered Cord Syndrome
|
|
Occult Spinal Dysraphism
|
Occult Spinal Dysraphism Sequence
|
|
Segmental Vertebral Anomalies
|
Tethered Spinal Cord Disease
|
|
Tethered Cord
|
Spina Bifida Occulta
|
|
Cryptomerorachischisis
|
Spina Bifida Occulta With Tethered Spinal Cord
|
|
Sbo - [Spina Bifida Occulta]
|
|
|
| Hepatocellular Carcinoma |
|
Liver Cancer
|
Primary Liver Cancer
|
|
HCC
|
Hepatoma
|
|
Malignant Neoplasm Of Liver
|
Liver Neoplasms
|
|
Cancer, Hepatocellular
|
Liver Cell Carcinoma
|
|
Lcc
|
Hepatoblastoma, Somatic
|
|
Hepatic Cancer
|
Primary Malignant Neoplasm Of Liver
|
|
Rare Tumor Of Liver And Intrahepatic Biliary Tract
|
Hepatocellular Carcinoma, Somatic
|
|
Hepatocellular Carcinoma, Childhood Type, Somatic
|
Hepatocellular Cancer, Somatic
|
|
Ca Liver - Primary
|
Hepatic Neoplasm
|
|
Malignant Hepato-Biliary Neoplasm
|
Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
|
|
Malignant Neoplasm Of Liver, Primary
|
Malignant Tumor Of Liver
|
|
Neoplasm Of Liver
|
Non-Resectable Primary Hepatic Malignant Neoplasm
|
|
Resectable Malignant Neoplasm Of Liver
|
Resectable Malignant Neoplasm Of The Liver
|
|
Primary Liver Carcinoma
|
Primary Malignant Liver Neoplasm
|
|
Primary Cancer Of Liver
|
Primary Tumor Of The Liver
|
|
Rare Tumor Of Liver And Ibt
|
Hepatocellular Cancer
|
|
Neoplasm Of The Liver
|
Carcinoma, Hepatocellular
|
|
Hepatomas
|
Liver Neoplasm
|
|
Liver Carcinoma
|
Liver And Intrahepatic Biliary Tract Carcinoma
|
|
Malignant Hepatobiliary Neoplasm
|
Adult Primary Hepatocellular Carcinoma
|
|
Hepatoblastoma
|
Carcinoma Of Liver
|
|
Malignant Liver Tumour
|
Malignant Hepatic Tumour
|
|
|
| Breast Cancer |
|
Breast Carcinoma
|
Male Breast Cancer
|
|
Breast Cancer, Familial
|
Malignant Neoplasm Of Breast
|
|
Breast Cancer, Susceptibility To
|
Breast Cancer, Early-Onset
|
|
Malignant Tumor Of Breast
|
Carcinoma Of Male Breast
|
|
Breast Cancer, Invasive Ductal
|
Breast Cancer, Protection Against
|
|
Breast Cancer, Somatic
|
Breast Cancer, Male
|
|
Breast Cancer, Lobular, Somatic
|
Breast Tumor
|
|
Mammary Cancer
|
Mammary Tumor
|
|
Malignant Neoplasm Of Male Breast
|
Mammary Carcinoma
|
|
Male Breast Carcinoma
|
Familial Cancer Of Breast
|
|
Invasive Ductal Breast Carcinoma
|
Breast Cancer Susceptibility
|
|
Breast Cancer, Male, Susceptibility To
|
Breast Cancer, Early-Onset, Susceptibility To
|
|
Malignant Tumor Of The Breast
|
Mammary Neoplasm
|
|
Primary Breast Cancer
|
Neoplasm Of Male Breast
|
|
Carcinoma Of Breast
|
Breast Cancer In Men
|
|
Familial Breast Cancer
|
Cancer Of Breast
|
|
BC
|
Breast Cancer Familial
|
|
Breast Cancer Familial Male
|
Breast Cancer, Familial Male
|
|
Breast Male Carcinoma
|
Breast Neoplasms
|
|
Breast Neoplasms, Male
|
Mammary Tumors
|
|
Mammary Carcinomas
|
Cancer, Breast
|
|
Cancer, Breast, Susceptibility
|
Invasive Breast Ductal Carcinoma
|
|
Breast Neoplasm
|
Susceptibility To Breast Cancer
|
|
Mammary Neoplasms
|
Animal Mammary Neoplasms
|
|
Primary Malignant Neoplasm Of Breast
|
Infiltrating Ductal Carcinoma Of Breast
|
|
Infiltrating Duct Carcinoma Of Unspecified Site
|
Infiltrating Ductular Carcinoma Of Unspecified Site
|
|
Invasive Breast Carcinoma Of No Special Type
|
Microinvasive Carcinoma Of Breast
|
|
Carcinoma With Apocrine Differentiation
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| 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
|
|
|
| Salivary Gland Adenoid Cystic Carcinoma |
|
|
| 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
|
|
|
| Exudative Vitreoretinopathy |
|
Familial Exudative Vitreoretinopathy
|
Fevr
|
|
Criswick-Schepens Syndrome
|
Exudative Vitreoretinopathy, Familial
|
|
Vitreoretinopathy, Exudative )
|
Exudative Vitreoretinopathy 1
|
|
|
| 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
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
