| 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
|
|
|
| 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
|
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Bsyn
|
|
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| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
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Cataract Form
|
Lens Opacity
|
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Lens Opacities
|
|
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| Rapadilino Syndrome |
|
Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate
|
Radial And Patellar Aplasia
|
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Radial And Patellar Hypoplasia
|
RAPADILINOS
|
|
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| 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
|
|
|
| Aging |
|
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| Nijmegen Breakage Syndrome |
|
Berlin Breakage Syndrome
|
NBS
|
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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
|
|
|
| Hutchinson-Gilford Progeria Syndrome |
|
Progeria
|
HGPS
|
|
Hutchinson-Gilford Syndrome
|
Hutchinson-Gilford Progeria
|
|
Hutchinson Gilford Syndrome
|
Hutchinson Gilford Progeria Syndrome
|
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Hutchinson-Gilford Disease
|
Progeria Of Childhood
|
|
Hutchinson-Gilford-Progeria Syndrome
|
|
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| Type 2 Diabetes Mellitus |
|
Insulin Resistance
|
NIDDM
|
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Type 2 Diabetes
|
Diabetes Mellitus, Non-Insulin-Dependent
|
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T2D
|
Noninsulin-Dependent Diabetes Mellitus
|
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Diabetes Mellitus, Type Ii
|
Maturity-Onset Diabetes
|
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Insulin Resistance, Severe, Digenic
|
Diabetes Mellitus, Type 2
|
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Diabetes Mellitus, Noninsulin-Dependent
|
Diabetes Mellitus, Noninsulin-Dependent, Association With
|
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Diabetes Mellitus, Noninsulin-Dependent, Late Onset
|
Hypertension, Insulin Resistance-Related, Susceptibility To
|
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Insulin Resistance, Susceptibility To
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Non-Insulin-Dependent Diabetes Mellitus
|
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Type Ii Diabetes Mellitus
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Adult-Onset Diabetes Mellitus
|
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Maturity-Onset Diabetes Mellitus
|
Diabetes Mellitus Type 2
|
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Type Ii Diabetes
|
Type 2 Diabetes Mellitus, Susceptibility To
|
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Diabetes, Type 2
|
Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
|
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Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To
|
Diabetes Mellitus, Type 2, Susceptibility To
|
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Diabetes Mellitus, Noninsulin-Dependent, 2
|
Diabetes Mellitus, Type Ii, Susceptibility To
|
|
Hypertension, Insulin Resistance-Related
|
Adult-Onset Diabetes
|
|
Aodm
|
Diabetes Mellitus, Adult-Onset
|
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Diabetes Mellitus Type Ii
|
Diabetes Mellitus Type 2, Susceptibility To
|
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Diabetes, Type Ii, Susceptibility To
|
Diabetes Type 2
|
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Diabetes Mellitus
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Adult Onset Diabetes
|
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Maturity Onset Diabetes
|
Nonketotic Diabetes
|
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Non-Insulin Dependent Diabetes Mellitus
|
T2dm - [Type 2 Diabetes Mellitus]
|
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Niddm - [Non Insulin Dependent Diabetes Mellitus]
|
Dm2
|
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Dm Type Ii
|
Diabetic Type 2
|
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Insulin Requiring Type 2 Diabetes
|
Noninsulin Dependent Diabetes
|
|
Non-Insulin-Dependent Diabetes Mellitus Without Complications
|
Diabetes Due To Insulin Secretory Defect
|
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Diabetes Mellitus Due To Insulin Secretory Defect
|
Non-Insulin-Dependent Diabetes Of The Young
|
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Senile Diabetes
|
Nonketotic Hyperglycaemia
|
|
Stable Diabetes
|
|
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| Medulloblastoma |
|
MDB
|
Cpnet
|
|
Localized Primitive Neuroectodermal Tumor
|
Classic Medulloblastoma
|
|
Medulloblastoma Predisposition Syndrome
|
Medulloblastoma, Somatic
|
|
Brain Medulloblastoma
|
Cns Pnet
|
|
Infratentorial Primitive Neuroectodermal Tumor
|
Neuroectodermal Tumors, Primitive
|
|
Medulloblastomas
|
Desmoplastic Medulloblastoma
|
|
Medulloblastoma, With Extensive Nodularity
|
Medulloblastoma Of Unspecified Site
|
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Medullomyoblastoma Of Unspecified Site
|
|
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| Osteoporosis |
|
Postmenopausal Osteoporosis
|
Osteoporosis, Postmenopausal
|
|
Bone Mineral Density Quantitative Trait Locus
|
Bmnd
|
|
Osteoporosis, Involutional
|
Osteoporosis, Susceptibility To
|
|
Osteoporosis, Postmenopausal, Susceptibility
|
Bone Mineral Density Variation Qtl, Osteoporosis
|
|
OSTEOP
|
Involutional Osteoporosis
|
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Senile Osteoporosis
|
Osteoporosis Postmenopausal
|
|
Bone Mineral Density, Quantitative Trait Locus
|
Osteoporosis, Senile
|
|
Idiopathic Osteoporosis
|
Bone Rarefaction Nos
|
|
Type 1 Osteoporosis
|
|
|
| Adermatoglyphia |
|
ADERM
|
Immigration Delay Disease
|
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Absence Of Fingerprints
|
Adg
|
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Congenital Absence Of Fingerprints
|
Isolated Congenital Adermatoglyphia
|
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Fingerprints, Absence Of
|
Skin Abnormalities
|
|
|
| Baller-Gerold Syndrome |
|
BGS
|
Craniosynostosis With Radial Defects
|
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Craniosynostosis-Radial Aplasia Syndrome
|
Craniosynostosis Radial Aplasia Syndrome
|
|
|
| Acute Generalized Exanthematous Pustulosis |
|
Agep
|
Pustular Drug Eruption
|
|
Toxic Pustuloderma
|
|
|
| Skin Atrophy |
|
Atrophic Condition Of Skin
|
Atrophoderma
|
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Atrophy - Skin
|
|
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| Myocardial Infarction |
|
Heart Attack
|
Myocardial Infarction, Susceptibility To
|
|
Myocardial Infarction 1
|
Myocardial Infarction, Protection Against
|
|
Myocardial Infarction, Decreased Susceptibility To
|
Myocardial Infarction, Decreased
|
|
Myocardial Infarct
|
MCI1
|
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Premature Myocardial Infarction
|
Myocardial Infarction, Susceptibility To, Type 1
|
|
|
| Progeroid Syndrome |
|
|
| Fanconi Anemia, Complementation Group J |
|
Fanconi Anemia Complementation Group J
|
FANCJ
|
|
|
| Familial Retinoblastoma |
|
Hereditary Retinoblastoma
|
Retinoblastoma
|
|
|
| Xfe Progeroid Syndrome |
|
Xpf-Ercc1 Progeroid Syndrome
|
XFEPS
|
|
|
| Diabetes Mellitus |
|
|
| Schimke Immunoosseous Dysplasia |
|
Schimke Immuno-Osseous Dysplasia
|
SIOD
|
|
Immunoosseous Dysplasia, Schimke Type
|
Schimke Syndrome
|
|
Immunoosseous Dysplasia Schimke Type
|
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome
|
|
Spondyloepiphyseal Dysplasia Nephrotic Syndrome
|
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
|
|
|
| Lens Disease |
|
|
| 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
|
|
|
| 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
|
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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
|
|
|
| Fragile X Syndrome |
|
FXS
|
Martin-Bell Syndrome
|
|
Fraxa Syndrome
|
Marker X Syndrome
|
|
X-Linked Mental Retardation And Macroorchidism
|
Fragile X Mental Retardation Syndrome
|
|
Fra Syndrome
|
Mental Retardation, X-Linked, Associated With Marxq28
|
|
X-Linked Intellectual Disability And Macroorchidism
|
Frax Syndrome
|
|
Symptomatic Form Of Fragile X Syndrome In Female Carriers
|
Fragile-X Syndrome
|
|
Fraxe Syndrome
|
|
|
| Meningioma, Familial |
|
Meningioma
|
Familial Meningioma
|
|
Meningioma, Familial, Susceptibility To
|
Meningeal Neoplasm
|
|
Meningeal Neoplasms
|
Meningiomas
|
|
Meningioma, Nf2-Related, Somatic
|
Meningioma, Sis-Related
|
|
Meningothelial Cell Tumor
|
Neoplasm Of The Meninges
|
|
Primary Meningeal Tumor
|
Familial Multiple Meningioma
|
|
MNGMA
|
Meningioma, Benign, No Icd-O Subtype
|
|
Intracranial Meningioma
|
Meningothelial Cell Neoplasm
|
|
Supratentorial Meningioma
|
Primary Neoplasm Of Spinal Meninges
|
|
Benign Intracranial Meningioma
|
Benign Meningioma
|
|
Meningeal Tumours
|
Meningeal Sarcoma Of Unspecified Site
|
|
Meningothelial Sarcoma Of Unspecified Site
|
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Trichothiodystrophy |
|
Ttd
|
Amish Brittle Hair Syndrome
|
|
Bids Syndrome
|
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
|
|
Ibids
|
Pibids
|
|
Trichothiodystrophy Syndromes
|
|
|
| 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
|
|
|
| Seckel Syndrome |
|
Microcephalic Primordial Dwarfism
|
Bird-Headed Dwarfism
|
|
Harper'S Syndrome
|
Virchow-Seckel Dwarfism
|
|
Nanocephalic Dwarfism
|
Sckl
|
|
Seckel-Type Dwarfism
|
|
|
| Dyskeratosis Congenita |
|
Dyskeratosis Congenita Autosomal Dominant
|
Dc
|
|
Dkc
|
Zinsser-Engman-Cole Syndrome
|
|
Dyskeratosis Congenita, Autosomal Dominant
|
Autosomal Dominant Dyskeratosis Congenita
|
|
Dkca
|
Dyskeratosis Congenita Scoggins Type
|
|
Zinsser-Cole-Engman Syndrome
|
X-Linked Dyskeratosis Congenita
|
|
Hoyeraal-Hreidarsson Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
