| 疾病名称 |
别名 |
|
| Coffin-Siris Syndrome 2 |
|
CSS2
|
Mrd14
|
|
Mental Retardation, Autosomal Dominant 14
|
Autosomal Dominant Mental Retardation 14
|
|
Coffin-Siris Syndrome, Type 2
|
|
|
| Coffin-Siris Syndrome 1 |
|
Coffin-Siris Syndrome
|
Fifth Digit Syndrome
|
|
Css
|
CSS1
|
|
Mrd12
|
Mental Retardation, Autosomal Dominant 12
|
|
Hhid
|
Dwarfism-Onychodysplasia
|
|
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
|
Autosomal Dominant Mental Retardation 12
|
|
Short Stature-Onychodysplasia.
|
Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
|
|
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails
|
Short Stature-Onychodysplasia
|
|
Coffin-Siris Syndrome, Type 1
|
Mental Retardation, Autosomal Dominant, Type 12
|
|
|
| Hydrops Fetalis, Nonimmune |
|
Hydrops Fetalis
|
Non-Immune Hydrops Fetalis
|
|
NIHF
|
Familial Non-Immune Hydrops Fetalis
|
|
Hydrops Fetalis Nonimmune
|
Idiopathic Hydrops Fetalis
|
|
Hb Bart'S Hydrops Fetalis
|
Alpha-Thalassemia Hydrops Fetalis
|
|
Alpha-Thalassemia Major
|
Hemoglobin Bart'S Hydrops Fetalis
|
|
Homozygous Alpha0-Thalassemia
|
Fetal Anasarca
|
|
Fetal Hydrops
|
Generalized Fetal Edema
|
|
Hf
|
Non-Immune Hf
|
|
Non-Immune Fetal Edema
|
Non-Immune Fetal Hydrops
|
|
Hydrops Fetalis, Non-Immune
|
Hemoglobin Bart'S Hydrops Syndrome
|
|
|
| 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
|
|
Cancer, Colon
|
Cancer, Colorectal, Susceptibility To
|
|
Colorectal Neoplasm
|
Colonic Neoplasm
|
|
Malignant Tumor Of Colon
|
|
|
| Periventricular Leukomalacia |
|
Leukomalacia, Periventricular
|
Pvl
|
|
Leukomalacia Periventricular
|
|
|
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
|
| Endometrioid Ovary Carcinoma |
|
Endometrioid Carcinoma Of Ovary
|
Endometrioid Carcinoma Ovary
|
|
Ovarian Endometrioid Carcinoma
|
Malignant Ovarian Endometrioid Tumor
|
|
Ovarian Endometrioid Tumor
|
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| Endocervical Adenocarcinoma |
|
|
| Clear Cell Adenofibroma |
|
|
| Ovarian Clear Cell Carcinoma |
|
Clear-Cell Ovarian Carcinoma
|
|
|
| Female Reproductive Endometrioid Cancer |
|
Endometrioid Tumor
|
Endometrioid Neoplasm
|
|
Female Reproductive Endometrioid Neoplasm
|
|
|
| Endometrial Hyperplasia |
|
|
| Ovarian Small Cell Carcinoma |
|
Small Cell Carcinoma Of The Ovary
|
Scco
|
|
Small Cell Ovarian Carcinoma
|
|
|
| Endometriosis Of Ovary |
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Eec Syndrome
|
Rudiger Syndrome 1
|
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1
|
EEC1
|
|
Eec Syndrome 1
|
Eec Syndrome-1
|
|
Walker-Clodius Syndrome
|
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
|
|
Eec
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome
|
|
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
|
Ectrodactyly-Cleft Lip/Palate Syndrome
|
|
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate
|
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
|
|
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
|
Ectrodactyly-Cleft Lip-Palate Syndrome
|
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
|
|
|
| Ovarian Clear Cell Adenocarcinoma |
|
|
| Mixed Cell Type Cancer |
|
Malignant Mixed Neoplasm
|
Malignant Mixed Tumor
|
|
Mixed Neoplasm
|
Mixed Tumor, Malignant
|
|
Malignant Mixed Cancer
|
Mixed Tumor
|
|
Malignant Mixed Tumor, Not Otherwise Specified
|
Mixed Salivary Gland Tumor
|
|
Mixed Tumor, Not Otherwise Specified
|
|
|
| Hypertrichosis |
|
|
| Bile Duct Cancer |
|
Bile Duct Carcinoma
|
Extrahepatic Bile Duct Carcinoma
|
|
Carcinoma Of Extrahepatic Bile Duct
|
Extrahepatic Bile Duct Cancer
|
|
Bile Duct Neoplasms
|
Bile Duct Tumor
|
|
Ca Extrahepatic Bile Ducts
|
Malignant Neoplasm Of The Extrahepatic Bile Duct
|
|
Bile Duct Extrahepatic Carcinoma
|
Malignant Tumor Of Extrahepatic Bile Duct
|
|
|
| Cervical Squamous Cell Carcinoma |
|
Squamous Cell Carcinoma Of The Cervix Uteri
|
Squamous Cell Carcinoma Of Cervix
|
|
|
| Serous Cystadenocarcinoma |
|
Serous Adenocarcinoma
|
Cystadenocarcinoma, Serous
|
|
Serous Carcinoma
|
Cystadenocarcinoma Serous
|
|
|
| Adenofibroma |
|
|
| Small Intestine Cancer |
|
Small Intestine Carcinoma
|
Cancer Of The Small Bowel
|
|
Small Bowel Cancer
|
Small Intestinal Carcinoma
|
|
Malignant Neoplasms Of The Small Intestine
|
Small Bowel Tumors
|
|
Malignant Tumor Of Small Intestine
|
Neoplasm Of Small Intestine
|
|
|
| Bladder Urothelial Carcinoma |
|
Bladder Transitional Cell Carcinoma
|
Transitional Cell Carcinoma Of Bladder
|
|
Transitional Cell Carcinoma Of The Bladder
|
Urinary Bladder Urothelial Carcinoma
|
|
Urothelial Bladder Carcinoma
|
Carcinoma Transitional Cell Bladder
|
|
Tcc - [Transitional Cell Carcinoma] Of Bladder
|
|
|
| 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
|
|
|
| Ovary Adenocarcinoma |
|
Ovarian Adenocarcinoma
|
Adenocarcinoma Of The Ovary
|
|
Ovarian Adenoacanthoma
|
Adenocarcinoma Of Ovary
|
|
|
| Ovarian Carcinosarcoma |
|
Ovarian Malignant Mixed Mullerian Tumor
|
Mmmt Of The Ovary
|
|
Malignant Mixed Mullerian Tumor Of The Ovary
|
Ovarian Malignant Mixed Epithelial Mesenchymal Tumor
|
|
Ovarian Malignant Mesodermal Mixed Tumor
|
Ovarian Mmmt
|
|
Malignant Mixed Müllerian Tumor Of The Ovary
|
Ovarian Malignant Mixed Müllerian Tumor
|
|
Carcinosarcoma Of Ovary
|
|
|
| Uterine Body Mixed Cancer |
|
Malignant Mixed Tumor Of Corpus Uteri
|
Malignant Mixed Tumor, Not Otherwise Specified
|
|
|
| Uterine Corpus Cancer |
|
Corpus Uteri Cancer
|
Malignant Uterine Corpus Neoplasm
|
|
|
| Clark-Baraitser Syndrome |
|
CLABARS
|
Baraitser Syndrome
|
|
Autosomal Dominant Intellectual Disability 49
|
Mental Retardation, Autosomal Dominant 49, Formerly
|
|
Mrd49, Formerly
|
Intellectual Developmental Disorder, Autosomal Dominant 49
|
|
Autosomal Dominant Mental Retardation 49
|
Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features
|
|
Mrd49
|
Progeria Short Stature Pigmented Nevi
|
|
|
| Medullary Colon Carcinoma |
|
|
| Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type |
|
Hypercalcemic Type Ovarian Small Cell Carcinoma
|
Small Cell Carcinoma Of The Ovary, Hypercalcemic Type
|
|
Ovarian Small Cell Carcinoma, Hypercalcemic Type
|
|
|
| Adenoid Cystic Carcinoma |
|
Adenocystic Carcinoma
|
Cribriform Carcinoma
|
|
Cylindroma
|
Carcinoma Adenoid Cystic
|
|
Carcinoma, Adenoid Cystic
|
Adenoid Cystic Carcinoma Of Salivary Gland
|
|
Eccrine Dermal Cylindroma
|
Carcinoma, Cribriform
|
|
|
| Rhabdoid Cancer |
|
Rhabdoid Tumor
|
Malignant Rhabdoid Tumor
|
|
Malignant Rhabdoid Tumour
|
Rhabdoid Sarcoma
|
|
Rhabdoid Tumor Predisposition Syndrome 1
|
Rhabdoid Tumor Predisposition Syndrome 2
|
|
Atypical Teratoid Rhabdoid Tumor
|
Brain Tumor, Posterior Fossa, Of Infancy, Familial
|
|
Atypical Teratoid/Rhabdoid Tumor
|
|
|
| Endometrial Serous Adenocarcinoma |
|
Uterine Serous Carcinoma
|
Uterine Corpus Serous Adenocarcinoma
|
|
Uterine Papillary Serous Carcinoma
|
|
|
| Malignant Ovarian Surface Epithelial-Stromal Neoplasm |
|
Malignant Ovarian Surface Epithelial-Stromal Tumor
|
|
|
| Clear Cell Adenocarcinoma |
|
Mesonephroma
|
Water-Clear Cell Adenocarcinoma
|
|
Adenocarcinoma, Clear Cell
|
Malignant Mesonephroma
|
|
Mesonephroid Clear Cell Carcinoma
|
Mesonephroma, Malignant
|
|
Water-Clear Cell Carcinoma
|
Wolffian Duct Neoplasm
|
|
Adenocarcinoma Clear Cell
|
Mesonephric Tumor
|
|
|
| Neurilemmomatosis |
|
Schwannomatosis
|
Neurofibromatosis Type 3
|
|
Nf3
|
Neurilemmomatosis Congenital Cutaneous
|
|
Neurinomatosis
|
Congenital Cutaneous Neurilemmomatosis
|
|
Multiple Neurilemmomas
|
Multiple Schwannomas
|
|
Neurilemmomatosis, Congenital Cutaneous
|
Schwannomatosis 1
|
|
Neurofibromatosis 3
|
Mixed Central And Peripheral Neurofibromatosis
|
|
Nf3 - [Neurofibromatosis Type 3]
|
|
|
| Mismatch Repair Cancer Syndrome |
|
Turcot Syndrome
|
Brain Tumor-Polyposis Syndrome 1
|
|
Btp1 Syndrome
|
Btps1
|
|
Childhood Cancer Syndrome
|
Cmmr-D Syndrome
|
|
Cmmrds
|
Constitutional Mismatch Repair Deficiency Syndrome
|
|
Mmr Deficiency
|
Cancer Syndrome, Mismatch Repair
|
|
Malignant Childhood Neoplasm
|
|
|
| Spinal Meningioma |
|
Spinal Cord Meningioma
|
Meningioma, Spine
|
|
Meningioma
|
Meningioma, Benign, No Icd-O Subtype
|
|
|
| Spinal Canal And Spinal Cord Meningioma |
|
|
| Intrahepatic Cholangiocarcinoma |
|
Cholangiocarcinoma
|
Intrahepatic Bile Duct Carcinoma
|
|
Peripheral Cholangiocarcinoma
|
Peripheral Intrahepatic Cholangiocarcinoma
|
|
Adenocarcinoma Of Intra-Hepatic Bile Ducts
|
Cholangiocarcinoma, Unspecified Site
|
|
Cholangiocarcinoma Of Liver
|
|
|
| Bartholin'S Gland Adenoid Cystic Carcinoma |
|
Bartholin Gland Adenoid Cystic Carcinoma
|
|
|
| Colon Adenocarcinoma |
|
Adenocarcinoma Of Colon
|
Adenocarcinoma Of The Colon
|
|
Colonic Adenocarcinoma
|
|
|
| Uterine Carcinosarcoma |
|
Carcinosarcoma Of The Corpus Uteri
|
Mixed Mullerian Sarcoma Of Uterus
|
|
Malignant Mixed Müllerian Tumor Of The Corpus Uteri
|
Malignant Mixed Müllerian Tumor Of Corpus Uteri
|
|
Mixed Müllerian Cancer Of Corpus Uteri
|
Malignant Mixed Mullerian Tumor Of The Corpus Uteri
|
|
Mixed Mullerian Cancer Of Corpus Uteri
|
Uterine Corpus Carcinosarcoma
|
|
|
| Cystadenocarcinoma |
|
|
| Gallbladder Cancer |
|
Gallbladder Carcinoma
|
Gallbladder Neoplasm
|
|
Malignant Neoplasm Of Gallbladder
|
Malignant Tumour Of Gallbladder
|
|
Gallbladder Ca
|
Localized Malignant Gallbladder Neoplasm
|
|
Malignant Tumor Of The Gallbladder
|
Tumor Of The Gallbladder
|
|
Cancer Of The Gallbladder
|
Carcinoma Gallbladder
|
|
Carcinoma Of Gallbladder
|
Gallbladder Neoplasms
|
|
Malignant Neoplasm Of Gallbladder Localized
|
Cancer Of Gallbladder
|
|
Primary Malignant Neoplasm Of Gallbladder
|
|
|
| Uterine Benign Neoplasm |
|
|
| Reproductive Organ Benign Neoplasm |
|
|
| Ovary Epithelial Cancer |
|
Ovarian Surface Epithelial-Stromal Tumor
|
Epithelial Tumor Of Ovary
|
|
|
| Fanconi Anemia, Complementation Group A |
|
Fanconi Anemia
|
Fanconi Pancytopenia
|
|
Fanconi Anemia Complementation Group A
|
FANCA
|
|
Fa
|
Fanconi Panmyelopathy
|
|
Fanconi'S Anemia
|
Fanconi Anaemia
|
|
Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
|
Estren-Dameshek Variant Of Fanconi Anemia
|
Estren-Dameshek Variant Of Fanconi Pancytopenia
|
|
Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
|
|
| Endocervical Carcinoma |
|
Carcinoma Of Endocervix
|
Carcinoma Of The Endocervix
|
|
|
| Lynch Syndrome |
|
Hereditary Nonpolyposis Colon Cancer
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
Hereditary Nonpolyposis Colorectal Carcinoma
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
Familial Nonpolyposis Colon Cancer
|
Hnpcc
|
|
Coca 1
|
Hereditary Defective Mismatch Repair Syndrome
|
|
Hereditary Non-Polyposis Colon Cancer
|
Hereditary Non-Polyposis Colon Cancer Syndrome
|
|
Hereditary Non-Polyposis Colorectal Cancer
|
Hereditary Non-Polyposis Colorectal Cancer Syndrome
|
|
Hereditary Nonpolyposis Colon Cancer Syndrome
|
Hereditary Nonpolyposis Colorectal Cancer Syndrome
|
|
Hereditary Nonpolyposis Colorectal Neoplasm
|
Hnpcc - Hereditary Nonpolyposis Colon Cancer
|
|
Cancer Family Syndrome
|
Familial Nonpolyposis Colorectal Cancer
|
|
Colon Cancer, Familial Nonpolyposis
|
Colorectal Neoplasms, Hereditary Nonpolyposis
|
|
Cancer, Colorectal, Nonpolyposis, Hereditary
|
Colorectal Cancer, Hereditary Nonpolyposis, Type 1
|
|
|
| Ovarian Seromucinous Carcinoma |
|
Mixed Epithelial Carcinoma Of Ovary
|
Ovary Mixed Epithelial Carcinoma
|
|
|
| Ovarian Cystadenocarcinoma |
|
Cystadenocarcinoma Of Ovary
|
Cystadenocarcinoma Of The Ovary
|
|
|
| Neural Tube Defects |
|
Spina Bifida
|
Neural Tube Defect
|
|
NTD
|
Neural Tube Defects, Susceptibility To
|
|
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
|
|
|
| Breast Juvenile Papillomatosis |
|
Juvenile Papillomatosis Of The Breast
|
|
|
| Papillary Adenofibroma |
|
|
| Fallopian Tube Endometrioid Adenocarcinoma |
|
Endometrioid Carcinoma Of The Fallopian Tube
|
Fallopian Tube Endometrioid Cancer
|
|
Fallopian Tube Endometrioid Neoplasm
|
Fallopian Tube Endometrioid Tumor
|
|
|
| Salpingitis Isthmica Nodosa |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
Renal Cell Carcinoma
|
RCC
|
|
Nonpapillary Renal Cell Carcinoma
|
Clear Cell Renal Cell Carcinoma
|
|
Hypernephroma
|
Adenocarcinoma Of Kidney
|
|
Renal Carcinoma, Chromophobe, Somatic
|
Clear Cell Carcinoma Of Kidney
|
|
Clear-Cell Metastatic Renal Cell Carcinoma
|
Clear Cell Renal Carcinoma
|
|
Renal Cell Carcinoma, Somatic
|
Conventional Renal Cell Carcinoma
|
|
Conventional Renal Cell Carcinoma
|
Renal Clear Cell Carcinoma
|
|
Ccrcc
|
Hereditary Clear Cell Renal Cell Carcinoma
|
|
Carcinoma, Renal Cell
|
Renal Cell Carcinoma, Clear Cell, Somatic
|
|
Renal Cell Carcinoma, Clear Cell
|
Clear Cell Kidney Carcinoma
|
|
Clear Cell Rcc
|
Cystic-Multilocular Variant
|
|
Clear Cell Renal Cell Adenocarcinoma
|
Hereditary Clear Cell Renal Cell Adenocarcinoma
|
|
Common Renal Cell Carcinoma
|
Crcc
|
|
Renal Cell Carcinoma Non-Papillary
|
Carcinoma Renal Cell
|
|
Renal Cell Cancer
|
Carcinoma, Renal Cell, Nonpapillary
|
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
Hereditary Breast And Ovarian Cancer Syndrome
|
Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
|
|
Breast And/Or Ovarian Cancer
|
Breast And Ovarian Cancer Syndrome
|
|
Hboc Syndrome
|
Hereditary Breast And Ovarian Cancer
|
|
Brca1- Brca2-Associated Hboc
|
|
|
