| 疾病名称 |
别名 |
|
| Werner Syndrome |
|
Werner'S Syndrome
|
WRN
|
|
Adult Progeria
|
Ws
|
|
Adult Premature Ageing Syndrome
|
Adult Premature Aging Syndrome
|
|
Werners Syndrome
|
|
|
| Xeroderma Pigmentosum, Variant Type |
|
Xeroderma Pigmentosum
|
XPV
|
|
Xeroderma Pigmentosum Variant Type
|
Xeroderma Pigmentosum With Normal Dna Repair Rates
|
|
Photosensitivity With Defective Dna Synthesis
|
Xp
|
|
De Sanctis-Cacchione Syndrome
|
Desanctis-Cacchione Syndrome
|
|
Xeroderma Pigmentosa
|
Xerodermic Idiocy
|
|
Xeroderma Pigmentosum Variant
|
Xp - [Xeroderma Pigmentosum]
|
|
Atrophoderma Pigmentosum
|
|
|
| Vitelliform Macular Dystrophy |
|
Best Disease
|
Juvenile-Onset Vitelliform Macular Dystrophy
|
|
Macular Dystrophy, Vitelliform
|
Best Macular Dystrophy
|
|
Vitelliform Dystrophy
|
|
|
| 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
|
|
|
| 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
|
|
|
| Xeroderma Pigmentosum, Complementation Group G |
|
Xeroderma Pigmentosum, Group G
|
Xeroderma Pigmentosum Vii
|
|
Xp7
|
XPG
|
|
Xeroderma Pigmentosum Group G
|
Xp Group G
|
|
Xp, Group G
|
Xpgc
|
|
Xeroderma Pigmentosum, Group G/Cockayne Syndrome
|
Xeroderma Pigmentosum, Type 7
|
|
Xeroderma Pigmentosum Complementation Group G
|
XP-G
|
|
Xp-G/Cs
|
Xeroderma Pigmentosum Group G/Cockayne Syndrome
|
|
|
| Cockayne Syndrome |
|
Cockayne'S Syndrome
|
Dwarfism-Retinal Atrophy-Deafness Syndrome
|
|
Neill-Dingwall Syndrome
|
Progeria-Like Syndrome
|
|
Progeroid Nanism
|
Cs
|
|
|
| Huntington Disease |
|
Huntington'S Disease
|
Huntington Chorea
|
|
Huntington'S Chorea
|
HD
|
|
Huntington Chronic Progressive Hereditary Chorea
|
Juvenile Huntington Disease
|
|
Chronic Progressive Chorea
|
Chronic Progressive Hereditary Chorea
|
|
Hc - [Huntington Chorea]
|
Hereditary Chorea
|
|
Progressive Hereditary Chorea
|
|
|
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Aoa1
|
Ataxia-Telangiectasia-Like Disorder
|
|
EAOH
|
Eoca-Ha
|
|
Ataxia With Oculomotor Apraxia Type 1
|
Ataxia-Oculomotor Apraxia 1
|
|
Ataxia-Oculomotor Apraxia Syndrome
|
AOA
|
|
Ataxia-Telangiectasia-Like Syndrome
|
Ataxia-Oculomotor Apraxia Type 1
|
|
Ataxia With Oculomotor Apraxia
|
Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
|
|
Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia
|
Early-Onset Cerebellar Ataxia With Hypoalbuminemia
|
|
Adult Onset Ataxia With Oculomotor Apraxia
|
Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia
|
|
Scan2
|
Scar1
|
|
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
|
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
|
|
Atld
|
Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia
|
|
Cerebellar Ataxia Early-Onset With Hypoalbuminemia
|
Ataxia-Oculomotor Apraxia
|
|
Spinocerebellar Ataxia, Autosomal Recessive 1
|
|
|
| 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
|
|
|
| Spinocerebellar Ataxia Type 1 With Axonal Neuropathy |
|
Scan1
|
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
|
|
Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy
|
Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy
|
|
Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy
|
Spinocerebellar Ataxia With Axonal Neuropathy
|
|
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy
|
Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy
|
|
|
| Baller-Gerold Syndrome |
|
BGS
|
Craniosynostosis With Radial Defects
|
|
Craniosynostosis-Radial Aplasia Syndrome
|
Craniosynostosis Radial Aplasia Syndrome
|
|
|
| Developmental And Epileptic Encephalopathy 75 |
|
DEE75
|
Epileptic Encephalopathy, Early Infantile, 75
|
|
Eiee75
|
Developmental And Epileptic Encephalopathy, 75
|
|
Early Infantile Epileptic Encephalopathy 75
|
|
|
| Cockayne Syndrome B |
|
Cockayne Syndrome Type 2
|
Cockayne Syndrome, Type B
|
|
Cockayne Syndrome Type Ii
|
CSB
|
|
Cockayne Syndrome 2
|
Cockayne Syndrome Type B
|
|
Ckn2
|
Cockayne Syndrome, Type Ii
|
|
|
| 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
|
|
|
| Trichothiodystrophy |
|
Ttd
|
Amish Brittle Hair Syndrome
|
|
Bids Syndrome
|
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
|
|
Ibids
|
Pibids
|
|
Trichothiodystrophy Syndromes
|
|
|
| Sezary'S Disease |
|
Sezary Syndrome
|
Sézary Syndrome
|
|
Sezary'S Lymphoma
|
Sezary Disease
|
|
Sezary Erythroderma
|
Sezary Lymphoma
|
|
|
| Fuchs' Endothelial Dystrophy |
|
Fuchs Endothelial Corneal Dystrophy
|
Fuchs Endothelial Dystrophy
|
|
Fuchs Dystrophy
|
Fced
|
|
Fuchs' Corneal Dystrophy
|
Fuchs' Endothelial Corneal Dystrophy
|
|
Fuchs Atrophy
|
Fuchs Corneal Dystrophy
|
|
Endoepithelial Corneal Dystrophy
|
Fecd
|
|
Late Hereditary Endothelial Dystrophy
|
Corneal Dystrophy, Fuchs Endothelial
|
|
Dystrophy, Corneal, Fuchs Endothelial
|
Corneal Dystrophy, Fuchs' Endothelial, 1
|
|
|
| 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
|
|
|
| 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
|
|
|
