| 疾病名称 |
别名 |
|
| Juvenile Polyposis Syndrome |
|
JPS
|
Juvenile Intestinal Polyposis
|
|
Jip
|
Pji
|
|
Juvenile Gastrointestinal Polyposis
|
Juvenile Polyposis
|
|
Polyposis, Juvenile Intestinal
|
Polyposis, Familial, Of Entire Gastrointestinal Tract
|
|
Polyposis Familial Of Entire Gastrointestinal Tract
|
Polyposis Juvenile Intestinal
|
|
Polyposis Syndrome, Juvenile
|
|
|
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
Rendu-Osler-Weber Disease
|
Hht
|
|
Osler-Weber-Rendu Disease
|
Telangiectasia, Hereditary Hemorrhagic
|
|
Osler Hemorrhagic Telangiectasia Syndrome
|
Orw Disease
|
|
Osler Weber Rendu Syndrome
|
Osler-Rendu-Weber Disease
|
|
Osler-Weber-Rendu Syndrome
|
Rendu-Osler Disease
|
|
Telangiectasia Hereditary Hemorrhagic
|
Telangiectasia Hemorrhagic, Hereditary
|
|
Hht - [Hereditary Haemorrhagic Telangiectasia]
|
Osler Haemorrhagic Telangiectasia Syndrome
|
|
|
| Tumor Predisposition Syndrome |
|
TPDS
|
Tumor Predisposition
|
|
|
| Lipoma Of Colon |
|
Colonic Lipoma
|
Colon Lipoma
|
|
|
| Persistent Mullerian Duct Syndrome |
|
Persistent Müllerian Duct Syndrome
|
Pmds
|
|
Persistent Oviduct Syndrome
|
Persistent Muellerian Duct Syndrome
|
|
Female Genital Ducts In Otherwise Normal Male
|
Hernia Uteri Inguinale
|
|
Persistent Mullerian Duct Syndrome, Types 1 And 2
|
Persistent Mullerian Derivatives
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Brachydactyly, Type A2 |
|
Brachydactyly Type A2
|
BDA2
|
|
Mohr-Wriedt Type Brachydactyly
|
Brachymesophalangy Ii
|
|
Brachymesophalangy Type 2
|
Brachymesophalangy 2
|
|
Brachydactyly, Mohr-Wriedt Type
|
Brachydactyly A2
|
|
|
| Brachydactyly |
|
|
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cronkhite-Canada Syndrome
|
Gastric Cronkhite Canada Polyposis
|
|
Cronkhite-Canada Disease
|
Polyposis Skin Pigmentation Alopecia Fingernail Changes
|
|
Gastrointestinal Polyposis-Ectodermal Changes Syndrome
|
Gastrointestinal Polyposis-Skin Pigmentation-Alopecia-Fingernail Changes Syndrome
|
|
Polyposis, Gastrointestinal, With Ectodermal Changes
|
|
|
| Desmoid Tumor |
|
Aggressive Fibromatosis
|
Desmoid Type Fibromatosis
|
|
Familial Infiltrative Fibromatosis
|
Desmoid Disorder, Hereditary
|
|
Fif
|
Fibromatosis, Familial Infiltrative
|
|
Deep Fibromatosis
|
Desmoid Fibromatosis
|
|
Hereditary Desmoid Disease
|
Musculoaponeurotic Fibromatosis
|
|
Desmoid-Type Fibromatosis
|
Fibromatosis, Aggressive
|
|
Desmoid Disease, Hereditary
|
Musculo-Aponeurotic Fibromatosis
|
|
|
| Cowden Syndrome |
|
Cowden Disease
|
Multiple Hamartoma Syndrome
|
|
Cowden'S Disease
|
Lhermitte-Duclos Disease
|
|
Cd
|
Cs
|
|
Mham
|
Dysplastic Gangliocytoma Of Cerebellum
|
|
Cowden'S Syndrome
|
Hamartoma Syndrome, Multiple
|
|
|
| Diffuse Gastric Cancer |
|
Hereditary Diffuse Gastric Adenocarcinoma
|
Hereditary Diffuse Gastric Cancer
|
|
Signet Cell Adenocarcinoma
|
Signet Ring Cell Carcinoma
|
|
Signet Ring Cell Gastric Carcinoma
|
Signet Ring Gastric Carcinoma
|
|
Fdgc
|
Familial Diffuse Cancer Of Stomach
|
|
Familial Diffuse Gastric Cancer
|
Gastric Cancer, Familial Diffuse
|
|
Gastric Cancer, Hereditary Diffuse
|
Hdgc
|
|
Hereditary Diffuse Cancer Of Stomach
|
Diffuse Gastric Cancer Syndrome
|
|
Cancer, Gastric, Diffuse
|
Carcinoma, Signet Ring Cell
|
|
Gastric Signet Ring Carcinoma
|
|
|
| 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
|
|
|
| Pseudohermaphroditism |
|
Indeterminate Sex And Pseudohermaphroditism
|
|
|
| Arteriovenous Malformation |
|
Arteriovenous Malformations
|
Arteriovenous Hemangioma
|
|
Cirsoid Aneurysm
|
Racemose Aneurysm
|
|
Racemose Angioma
|
Racemose Hemangioma
|
|
Congenital Arteriovenous Malformation
|
|
|
| Hemochromatosis Type 2 |
|
Juvenile Hemochromatosis
|
Juvenile Hereditary Hemochromatosis
|
|
Hfe2
|
Jhh
|
|
Hemochromatosis Juvenile
|
Iron Overload Disease Juvenile
|
|
Hemochromatosis, Juvenile
|
Hemochromatosis, Type 2
|
|
Hemochromatosis
|
Hemochromatosis, Type 1
|
|
|
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Hereditary Diffuse Gastric Cancer
|
HDGC
|
|
LBC
|
Familial Diffuse Gastric Cancer
|
|
Fdgc
|
Hereditary Diffuse Gastric Adenocarcinoma
|
|
Breast Cancer, Lobular
|
Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate
|
|
DGLBC
|
Gastric Cancer, Hereditary Diffuse
|
|
Gastric Cancer, Familial Diffuse Breast Cancer, Lobular
|
Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate
|
|
E-Cadherin-Associated Hereditary Gastric Cancer
|
Familial Diffuse Cancer Of Stomach
|
|
Hereditary Diffuse Cancer Of Stomach
|
Gastric Cancer Familial Diffuse
|
|
Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate
|
Cancer, Gastric, Hereditary Diffuse
|
|
|
| Large Intestine Lipoma |
|
Lipoma Of Large Intestine
|
Colorectal Lipoma
|
|
|
| Intussusception |
|
Intussusception Of Intestine
|
Invagination Of Intestine Or Colon
|
|
|
| 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
|
|
|
| Proximal Symphalangism |
|
Cushing'S Symphalangism
|
Symphalangism, Proximal
|
|
Hereditary Absence Of Proximal Interphalangeal Joints
|
Strasburger-Hawkins-Eldridge Syndrome
|
|
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome
|
Symphalangism, Proximal, 1a
|
|
Symphalangism, Proximal, 1b
|
Vessel'S Syndrome
|
|
Symphalangism, Cushing Type
|
|
|
| Hereditary Mixed Polyposis Syndrome |
|
|
| Cowden Syndrome 1 |
|
Pten Hamartoma Tumor Syndrome
|
Bannayan-Riley-Ruvalcaba Syndrome
|
|
Lhermitte-Duclos Disease
|
Bannayan-Zonana Syndrome
|
|
Phts
|
Riley-Smith Syndrome
|
|
Bzs
|
Ruvalcaba-Myhre-Smith Syndrome
|
|
Multiple Hamartoma Syndrome
|
Rmss
|
|
Brrs
|
Dysplastic Gangliocytoma Of The Cerebellum
|
|
CWS1
|
Cs
|
|
Cd
|
Mham
|
|
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
Macrocephaly Multiple Lipomas And Hemangiomata
|
|
Bannayan-Ruvalcaba-Riley Syndrome
|
Myhre-Riley-Smith Syndrome
|
|
LDD
|
Cerebelloparenchymal Disorder Vi
|
|
Hamartoma Syndrome, Multiple
|
Bbrs
|
|
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata
|
Macrocephaly, Multiple Lipomas, And Hemangiomata
|
|
Macrocephaly Pseudopapilledema And Multiple Hemangiomas
|
Ruvalcaba -Myhre-Smith Syndrome
|
|
Ruvalcaba-Myhre Syndrome
|
Cowden Disease
|
|
Macrocephaly Pseudopapilledema And Multiple Hemangiomata
|
Cerebellar Granule Cell Hypertrophy And Megalencephaly
|
|
Cpd6
|
Lhermitte-Duclos Syndrome
|
|
Pten Hamartoma Tumor Syndromes
|
Cowden Syndrome, Type 1
|
|
|
| Familial Adenomatous Polyposis |
|
Adenomatous Polyposis Coli
|
Fap
|
|
Familial Multiple Polyposis Syndrome
|
Adenomatous Polyposis Of The Colon
|
|
Familial Intestinal Polyposis
|
Familial Polyposis Coli
|
|
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
|
|
|
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome
|
JPHT
|
|
Jp/Hht Syndrome
|
Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia
|
|
Jps/Hht
|
Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli
|
|
Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation
|
Jp-Hht
|
|
JP/HHT
|
Polyposis, Juvenile/Hereditary Hemorrhagic Telangiectasia Syndrome
|
|
|
| Chromosome 10q23 Deletion Syndrome |
|
|
| Telangiectasis |
|
|
| Fibrodysplasia Ossificans Progressiva |
|
Myositis Ossificans Progressiva
|
Progressive Myositis Ossificans
|
|
FOP
|
Progressive Ossifying Myositis
|
|
Myositis Ossificans
|
Stone Man Syndrome
|
|
Man Of Stone
|
Myositis Ossificans Progressive
|
|
Diffuse Progressive Ossifying Polymyositis
|
Fibrodysplasia Ossificans Congenita
|
|
Myositis Ossificans Progressiva, Site Unspecified
|
Münchmeyer Disease
|
|
Fop - [Fibrodysplasia Ossificans Progressiva]
|
Progressive Myositis Ossificans Calcification
|
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| Leber Congenital Amaurosis 17 |
|
LCA17
|
Leber Congenital Amaurosis, Type 17
|
|
|
| Li-Fraumeni Syndrome |
|
Sarcoma Family Syndrome Of Li And Fraumeni
|
Sbla Syndrome
|
|
LFS
|
Li-Fraumeni Familiar Cancer Susceptibility Syndrome
|
|
Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome
|
Lfs1
|
|
Li Fraumeni Syndrome
|
Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome
|
|
Lfl
|
Sbla Syndrome Li-Fraumeni-Like Syndrome
|
|
Li-Fraumeni Syndrome 1
|
|
|
| Juvenile Polyposis Of Infancy |
|
Infantile Juvenile Polyposis Syndrome
|
|
|
| Lung Combined Large Cell Neuroendocrine Carcinoma |
|
Combined Large Cell Neuroendocrine Carcinoma Of Lung
|
Pulmonary Combined Large Cell Neuroendocrine Carcinoma
|
|
Combined Large Cell Lung Neuroendocrine Carcinoma
|
|
|
| Inherited Cancer-Predisposing Syndrome |
|
Hereditary Cancer-Predisposing Syndrome
|
|
|
| Breast Cancer |
|
Breast Carcinoma
|
Breast Cancer, Familial
|
|
Malignant Neoplasm Of Breast
|
Male Breast Cancer
|
|
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
|
|
|
| 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
|
|
|
| Familial Adenomatous Polyposis 2 |
|
Mutyh-Related Attenuated Familial Adenomatous Polyposis
|
FAP2
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Adenomas, Multiple Colorectal
|
|
Mutyh-Associated Polyposis
|
Mutyh-Related Attenuated Familial Polyposis Coli
|
|
Mutyh-Related Attenuated Fap
|
Adenomas, Multiple Colorectal, Autosomal Recessive
|
|
Mutyh-Related Afap
|
Adenomas Multiple Colorectal Autosomal Recessive
|
|
Colorectal Adenomatous Polyposis Autosomal Recessive
|
Adenomatous Polyposis, Familial, Type 2
|
|
|
| Protein-Losing Enteropathy |
|
Protein-Losing Enteropathies
|
Enteropathy, Exudative
|
|
Exudative Enteropathy
|
Ple - [Protein-Losing Enteropathy]
|
|
|
| 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
|
|
|
| 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
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Pulmonary Hypertension |
|
Primary Pulmonary Hypertension
|
Hypertension Pulmonary
|
|
Hypertension, Pulmonary
|
Idiopathic Pulmonary Hypertension
|
|
Idiopathic Pulmonary Arterial Hypertension
|
Pulmonary Htn - [Hypertension]
|
|
|
| Orofacial Cleft |
|
|
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
HMPS2
|
Hereditary Mixed Polyposis Syndrome 2
|
|
Polyposis Syndrome, Mixed Hereditary 2
|
Polyposis Syndrome, Hereditary Mixed, Type 2
|
|
|
| Split-Hand/Foot Malformation 2 |
|
SHFM2
|
Shfd2
|
|
Shsf2
|
Split Hand/Foot Malformation 2
|
|
Split Hand-Foot Malformation 2
|
Split-Hand/Split-Foot Anomaly, X-Linked
|
|
Split-Hand/Foot Deformity 2
|
Split Hand/Foot Malformation X-Linked
|
|
Split Hand Foot Anomaly - X-Linked
|
Split Hand Foot Deformity 2
|
|
|
| Craniosynostosis |
|
Premature Closure Of Cranial Sutures
|
Craniostenosis
|
|
Craniosynostosis Syndrome
|
Cso
|
|
Craniosynostoses
|
Congenital Ossification Of Cranial Sutures
|
|
Congenital Ossification Of Sutures Of Skull
|
Craniostosis
|
|
Imperfect Fusion Of Skull
|
Congenital Imperfect Closure Skull
|
|
Imperfect Closure Skull
|
Premature Closure Cranium Sutures
|
|
Deficiency Of Craniofacial Axis
|
|
|
| Familial Colorectal Cancer Type X |
|
|
