| 疾病名称 |
别名 |
|
| Bloom Syndrome |
|
BLM
|
Bs
|
|
Bls
|
Bloom-Torre-Machacek Syndrome
|
|
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1
|
Mgrisce1
|
|
Congenital Telangiectatic Erythema
|
Congenital Telangiectatic Erythema Syndrome
|
|
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability
|
Bloom'S Syndrome
|
|
Bsyn
|
|
|
| Bap1 Tumor Predisposition Syndrome |
|
Bap1-Related Tumor Predisposition Syndrome
|
Common Syndrome
|
|
Bap1 Cancer Syndrome
|
Bap1-Tpds
|
|
Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms
|
Tumor Predisposition Syndrome
|
|
Tumor Susceptibility Linked To Germline Bap1 Mutations
|
Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
|
|
Tumor Predisposition
|
|
|
| Inherited Cancer-Predisposing Syndrome |
|
Hereditary Cancer-Predisposing 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
|
|
|
| Werner Syndrome |
|
Werner'S Syndrome
|
WRN
|
|
Adult Progeria
|
Ws
|
|
Adult Premature Ageing Syndrome
|
Adult Premature Aging Syndrome
|
|
Werners Syndrome
|
|
|
| Rothmund-Thomson Syndrome, Type 2 |
|
Rothmund-Thomson Syndrome
|
Rts
|
|
RTS2
|
Poikiloderma Of Rothmund-Thomson
|
|
Rothmund-Thomson Syndrome Type 2
|
Congenital Poikiloderma
|
|
Poikiloderma Congenitale
|
Poikiloderma Atrophicans And Cataract
|
|
Poikiloderma Congenitale Of Rothmund-Thomson
|
Poikiloderma Of Rothmund-Thomson Type 2
|
|
Rothmund-Thomson Syndrome 2
|
Erythrokeratodermia Variabilis
|
|
|
| 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
|
|
|
| Ataxia-Telangiectasia |
|
Ataxia Telangiectasia
|
Louis-Bar Syndrome
|
|
AT
|
At1
|
|
Ataxia-Telangiectasia Syndrome
|
Ataxia - Telangiectasia Variant
|
|
Boder-Sedgwick Syndrome
|
Louis Bar Syndrome
|
|
Cerebello-Oculocutaneous Telangiectasia
|
Immunodeficiency With Ataxia Telangiectasia
|
|
A-T
|
Ataxia Telangiectasia Syndrome
|
|
Atm
|
Telangiectasia, Cerebello-Oculocutaneous
|
|
Ataxia-Telangiectasia Variant
|
|
|
| Adermatoglyphia |
|
ADERM
|
Immigration Delay Disease
|
|
Absence Of Fingerprints
|
Adg
|
|
Congenital Absence Of Fingerprints
|
Isolated Congenital Adermatoglyphia
|
|
Fingerprints, Absence Of
|
Skin Abnormalities
|
|
|
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Dyskeratosis Congenita, Autosomal Dominant, 4
|
DKCB5
|
|
Autosomal Dominant Dyskeratosis Congenita 4
|
DKCA4
|
|
Autosomal Recessive Dyskeratosis Congenita 5
|
Dyskeratosis Congenita, Autosomal Recessive, 5
|
|
Dyskeratosis Congenita, Autosomal Dominant 4
|
Dyskeratosis Congenita, Autosomal Recessive, Type 5
|
|
|
| Rapadilino Syndrome |
|
Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate
|
Radial And Patellar Aplasia
|
|
Radial And Patellar Hypoplasia
|
RAPADILINOS
|
|
|
| Baller-Gerold Syndrome |
|
BGS
|
Craniosynostosis With Radial Defects
|
|
Craniosynostosis-Radial Aplasia Syndrome
|
Craniosynostosis Radial Aplasia Syndrome
|
|
|
| Nijmegen Breakage Syndrome |
|
Berlin Breakage Syndrome
|
NBS
|
|
Microcephaly, Normal Intelligence And Immunodeficiency
|
Ataxia-Telangiectasia Variant
|
|
Ataxia-Telangiectasia Variant V1
|
Seemanova Syndrome Ii
|
|
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome
|
Seemanova Syndrome Type 2
|
|
At-V1
|
Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies
|
|
Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence
|
Immunodeficiency, Microcephaly, And Chromosomal Instability
|
|
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome
|
Microcephaly Immunodeficiency Lymphoreticuloma
|
|
Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies
|
Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence
|
|
Seemanova Syndrome 2
|
Ataxia-Telangiectasia Variant 1
|
|
Seemanova Syndrome
|
At V1
|
|
Ataxia-Telangiectasia, Variant 1
|
Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome
|
|
V-At
|
Ataxia Telangiectasia Variant V1
|
|
|
| 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
|
|
|
| Familial Retinoblastoma |
|
Hereditary Retinoblastoma
|
Retinoblastoma
|
|
|
| Fanconi Anemia, Complementation Group J |
|
Fanconi Anemia Complementation Group J
|
FANCJ
|
|
|
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Malouf Syndrome
|
Najjar Syndrome
|
|
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
|
Cardiogenital Syndrome
|
|
Genital Anomaly With Cardiomyopathy
|
Cardiomyopathy With Primary Testicular Failure
|
|
Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism
|
Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism
|
|
Cardiomyopathy, Dilated, With Premature Ovarian Failure
|
Cardiomyopathy Eith Primary Testicular Failure
|
|
Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism
|
Dilated Cardiomyopathy With Premature Ovarian Failure
|
|
CMDHH
|
Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism
|
|
Cardiomyopathy Dilated With Premature Ovarian Failure
|
|
|
| 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
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Aplastic Anemia |
|
Aplastic Anemia, Susceptibility To
|
Anemia Aplastic
|
|
Idiopathic Aplastic Anemia
|
Secondary Aplastic Anemia
|
|
Idiopathic Bone Marrow Failure
|
Aplastic Anemia Idiopathic
|
|
AA
|
Anemia, Aplastic
|
|
Aplastic Anemia, Idiopathic
|
Erythroid Aplasia
|
|
Aa - [Aplastic Anaemia]
|
Haematopoietic Aplasia
|
|
Aleukia Haemorrhagica
|
Anaemia Due To Decreased Red Cell Production
|
|
Aplasia Bone Marrow
|
Aplastic Bone Marrow
|
|
Hypoplastic Anaemia Nos
|
Myeloid Bone Marrow Aplasia
|
|
Pancytopenia
|
Panhaematopenia
|
|
Hypoproliferative Anaemia
|
Medullary Hypoplasia
|
|
Red Blood Cells Hypoplastic Anaemia
|
Panmyelophthisis
|
|
Panhemocytopenia
|
Refractive Hypoproliferative Anaemia
|
|
Toxic Anaemia
|
Toxic Aplastic Anaemia
|
|
Aplastic Anaemia Due To Toxic Cause
|
Idiopathic Aplastic Anaemia Nos
|
|
|
