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    试剂盒信息

    英文名称

    试剂盒编号

     

     

    0-9

     

     

    1p36缺失综合症

    1p36 deletion syndrome

    P147 1p36

     

     

    20q

    20q

    P157 20q

     

     

    22q11

    22q11

    P324 22q11

     

     

    22q13.3端粒单体 22q13.3

    Phelan-Mcdermid syndrome, Telomeric

    P188 22q13

     

     

    monosomy 22q13.3

     

     

    3-甲基巴豆醯辅酵素羧化酵素缺乏症

    3-methylcrotonylglycinuria I and II

    P194 MCCC

     

     

    9q端粒缺失综合征

    9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome.

    P340 EHMT1

     

     

    A

     

     

    Aarskog-Scott综合征,面生殖发育异常

    Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome

    P232 FGD1

     

     

    Aicardi-Goutieres综合症

    Aicardi-Goutieres Syndrome

    P388 AGS

     

     

    Alagille综合征(AGS

    Alagille Syndrome (AGS)

    P184 JAG1

     

     

    Alport综合征,遗传性肾炎

    Alport syndrome, Hereditary Nephritis

    P191 COL4A5 mix1

     

     

    Alport综合征,遗传性肾炎

    Alport syndrome, Hereditary Nephritis

    P192 COL4A5 mix2

     

     

    Aortic aneurysm综合征

    Aortic aneurysm syndrome

    P148 TGFBR

     

     

    α地中海贫血

    Thalassemisas, Alpha

    P140 HBA

     

     

    α地中海贫血/智力低下

    Alpha-Thalassemia/Mental Retardation

    P013 ATRX

     

     

    阿尔茨海默病/老年痴呆症

    Alzheimer's disease (AD)

    P254 PSEN1

     

     

    阿尔茨海默氏症,额颞叶痴呆症,皮层基底节变性,进行性核上性麻痹,匹克氏病

    Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy

    P275 MAPT-GRN

     

     

    癌症

    Cancer

    P225 PTEN

     

     

    安琪儿、天使人综合症

    Angelman

    P336 UBE3A

     

     

    澳氏遗传性骨营养不良症,假性甲状旁腺机能减退

    Albright hereditary osteodystrophy (AHO),

    Pseudohypoparathyroidism (PHP)

    ME031 GNAS

     

     

    B

     

     

    β-0地中海贫血

    Thalassemia, beta-zero

    P102 HBB

     

     

    Bartter综合征

    Bartter syndrome

    P266 CLCNKB

     

     

    Beckwith-wiedemann综合征(BWS),侏儒综合征(RSS

    Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS)

    ME030 BWS/RSS

     

     

    Birt-Hogg-Dube综合征,BHD综合征

    Birt-Hogg-Dube syndrome

    P256 FLCN

     

     

    Brugada综合症 /QT

    Brugada / long QT

    P108 SCN5A

     

     

    Branchio-oto-renal dysplasia 综合征

    Branchio-oto-renal dysplasia syndrome (BOR)

    P153 EYA1

     

     

    半乳糖血症

    Classic galactosemia

    P156 GALT

     

     

    伴随脑铁积累的神经退化(NBIA

    Neurodegeneration with brain iron accumulation (NBIA)

    P120 PANK2/PLA2G6

     

     

    鼻咽毛囊综合征

    Trichorhinophalangeal syndrome type I (TRPS1), Langer- Giedion syndrome (LGS)

    P228 TRPS1-EXT1

     

     

    丙酸血症

    Propionic acidemia

    P278 PCCA

     

     

    卟啉症;紫质症

    Porphyrias

    P411 Porphyria mix1

     

     

    卟啉症;紫质症

    Porphyrias

    P412 Porphyria mix2

     

    C

    Cohen综合征、科恩综合征

    Cohen syndrome

    P321 VPS13B mix 1

    Cohen综合征、科恩综合征

    Cohen syndrome

    P322 VPS13B mix 2

    脆性X染色体

    Fragile X

    ME029 FMR1/AFF2

    参照探针及质控片段

    Synthetic 'home-made' probes

    P200 Human DNA reference-1

    参照探针及质控片段(人)

    Synthetic 'home-made' probes

    P300 Human DNA reference-2

    参照探针及质控片段(鼠)

    Synthetic 'home-made' probes

    PM200 Mouse reference

    产前微缺失筛查

    Prenatal microdeletion screening

    P290 Prenatal Microdeletions

    成骨不全症(OI

    Osteogenesis imperfecta (OI)

    P271 COL1A1

    成骨不全症(OI

    Osteogenesis imperfecta (OI)

    P272 COL1A2

    成视网膜细胞瘤(RB

    Retinoblastoma (RB)

    P047 RB1

    唇裂与腭裂综合征、Van der Woude综合征

    Van der Woude syndrome (VWS)

    P304 IRF6

    错配修复基因

    Mismatch repair genes (MMR)

    ME011 Mismatch Repair genes

    D

    大拇指综合征、Rubinstein–Taybi综合征

    Rubinstein–Taybi syndrome (RSTS)

    P313 CREBBP

    大拇指综合征、Rubinstein–Taybi综合征

    Rubinstein–Taybi syndrome (RSTS)

    P333 EP300

    弹力纤维性假黄瘤

    Pseudoxanthoma elasticum

    P092 ABCC6

    蛋白C缺乏症(PROC

    Protein C deficiency (PROC)

    P265 PROC

    邓肯病、X连锁的淋巴细胞增生综合征

    Lymphoproliferative syndrome, x-linked (XLP). Duncan disease

    P205 XLP

    低磷酸盐血症(X连锁)

    Hypophosphatemia, x-linked

    P223 PHEX

    低尿钙高血钙症

    Hypocalciuric Hypercalcemia, familial

    P177 CASR

    迪乔治综合症(DGS,CES等)

    DiGeorge syndrome

    P250 DiGeorge

    地中海热(MEFV

    Mediterranean fever, familial (MEFV)

    P094 MEFV

    癫痫

    Autosomal Dominant Lateral Temporal Lobe Epilepsy, ADLTE

    P408 ADLTE-LGI1

    癫痫

    Epilepsy

    P137 SCN1A

    癫痫(EFMR

    Epilepsy (EFMR)

    P330 PCDH19

    癫痫良性新生儿(EBN2)、新生儿惊厥(家族性II型)

    Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)

    P197 KCNQ3

    凋亡mRNA

    Apoptosis mRNA

    R011 Apoptosis

    动脉粥样硬化性心血管疾病

    Atherosclerotic cardiovascular disease (risk of)

    P273 PCSK5

    杜氏肌营养不良症(DMD

    Duchenne Muscular Dystrophy (DMD)

    P034 DMD mix 1

    杜氏肌营养不良症(DMD

    Duchenne Muscular Dystrophy (DMD)

    P035 DMD mix 2

    多发性内分泌肿瘤

    Multiple endocrine neoplasia (MEN)

    P244 AIP-MEN1

    多发性内分泌肿瘤

    Multiple endocrine neoplasia

    P017 MEN1

    多发性内分泌肿瘤

    Multiple endocrine neoplasia

    P107 Neurometabolic

    多骨软骨瘤

    Multiple Osteochondromas

    P215 EXT

    多囊肾病

    Polycystic kidney disease, autosomal recessive (ARPKD)

    P342 PKHD1 mix 2

    多囊肾病

    Adult polycystic kidney disease

    P351 PKD1

    多囊肾病

    Adult Polycystic Kidney Disease

    P352 PKD1-PKD2

    E

    恶性高热(MH

    Malignant Hyperthermia (MH)

    P281 RYR1 mix 1

    恶性高热(MH

    Malignant Hyperthermia (MH)

    P282 RYR1 mix 2

    恶性脑胶质瘤

    Glioma, malignant

    P105 Glioma-2

    Ehlers-Danlos综合征,松皮症

    Ehlers-Danlos Syndrome

    P331 COL5A1

    Ehlers-Danlos综合征,松皮症

    Ehlers-Danlos Syndrome

    P332 COL5A1

    Ehlers-Danlos综合征(型)

    The Ehlers-Danlos syndrome type III (EDS III)

    P155 EDS

    Ehlers-Danlos综合征(IV型)

    Ehlers Danlos syndrome type VI

    P359 PLOD1

    耳聋

    Hearing loss

    P163 GJB-WFS1

    二氢嘧啶脱氢酶缺陷症

    Dihydropyrimidine dehydrogenase (DPYD) deficiency

    P103 DPYD

    F

    FCGR基因1q23.3

    FCGR genes 1q23.3

    P110 FCGR mix 1

    FCGR基因1q23.3

    FCGR genes 1q23.3

    P111 FCGR mix 2

    范科尼氏贪血症

    Fanconi Anemia

    P260 PALB2-RAD50-RAD51C

    范科尼氏贪血症(FA

    Fanconi Anemia (FA)

    P031 FANCA mix 1

    范科尼氏贪血症(FA

    Fanconi Anemia (FA)

    P032 FANCA mix 2

    范科尼氏贪血症互补(B组)

    Fanconi anemia complementation group B

    P113 FANCB

    防御素

    Defensin

    P139 Defensin

    非息肉性结肠癌

    Hereditary nonpolyposis colon cancer (HNPCC)

    P003 MLH1/MSH2

    非息肉性结肠癌

    Hereditary nonpolyposis colon cancer (HNPCC)

    P008 PMS2

    非息肉性结肠癌

    Hereditary nonpolyposis colon cancer (HNPCC)

    P072 MSH6

    肥厚型心肌病

    Hypertrophic cardiomyopathy

    P418 MYH7 probemix

    肥厚型心肌病(家族性)

    Hypertrophic cardiomyopathy, familial

    P100 MYBPC3

    肥厚型心肌病、扩张型心肌病

    Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy

    P196 TNNT2-BAG3

    肥厚型心肌病、扩张型心肌病

    Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy

    P196 TNNT2-BAG3

    肥胖

    Obesity

    P220 Obesity

    肥胖,II型糖尿病,III型家族性局部脂肪代谢障碍,结肠癌

    Obesity, Diabetes mellitis type II, Familial partial lipodystrophy III, Colon cancer

    P224 PPARG

    腓骨肌萎缩症

    Charcot-Marie-Tooth disease (CMT2A/1B)

    P143 MFN2-MPZ

    腓骨肌萎缩症

    Charcot Marie Tooth disease, x-linked

    P129 GJB1

    副神经节瘤

    Paragangliomas (PGL)

    P226 SDH

    G

    Gitelman综合征

    Gitelman syndrome

    P136 Gitelman syndrome

    高草酸尿症,1型(PH1)与2型(PH2

    Primary hyperoxaluria, type 1 (PH1) & type 2 (PH2)

    P305 AGXT

    高林综合征(面耳脊柱病)

    Gorlin syndrome

    P067 PTCH

    高胰岛素低血糖症(HHF1

    Hyperinsulinemic hypoglycemia, familial (HHF1)

    P117 ABCC8

    共济失调

    Recessive Ataxias

    P316 Recessive Ataxias

    共济失调2,家族性偏瘫性偏头痛

    Episodic ataxia 2, Familial hemiplegic migraine

    P279 CACNA1A

    共济失调毛细血管扩张症(AT

    Ataxia-Telangiectasia (AT)

    P041 ATM-1

    共济失调毛细血管扩张症(AT

    Ataxia-Telangiectasia (AT)

    P042 ATM-2

    共济失调毛细血管扩张症(AT

    Ataxia-Telangiectasia (AT)

    P041 ATM-1

    共济失调毛细血管扩张症(AT

    Ataxia-Telangiectasia (AT)

    P042 ATM-2

    骨骼疾病,软骨成长不全 ,软骨发育异常,早发家族性关节炎,先天性SED,Langer-Saldino软骨成长不全,Kniest发育不良,斯蒂克勒综合征,脊椎干骺端发育不良

    Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal

    P214 COL2A1

    骨髓增生异常综合征

    Myelodysplastic syndrome (MDS)

    P144 MDS mix 1

    骨髓增生异常综合征

    Myelodysplastic syndrome (MDS)

    P145 MDS mix 2

    骨质疏松症-假神经胶质瘤综合征

    Osteopoprosis-pseudoglioma syndrome (OPPS)

    P285 LRP5

    广泛的端粒筛查

    Broad subtelomeric screening

    P036 Human Telomere-3

    广泛的端粒筛查

    Broad subtelomeric screening

    P070 Human Telomere-5

    广泛的端粒筛查

    Broad subtelomeric screening

    P069 Human Telomere-4

    果糖不耐症

    Fructose intolerance

    P255 ALDOB

    H

    HIES、高免疫球蛋白E复发感染综合症

    HIES

    P385 DOCK8

    HIES、高免疫球蛋白E复发感染综合症

    HIES

    P386 DOCK8-STAT3

    海绵状脑白质营养不良症

    Canavan disease

    P025 Canavan disease

    黑色素细胞肿瘤,间皮瘤

    Melanocytic tumours, mesothelioma

    P417 BAP1

    黑素瘤(家族性)

    Familial melanoma

    P419 CDKN2A/2B-CDK4 probemix

    亨特综合征,粘多糖贮积症

    Mucopolysaccharidosis type II, or Hunter syndrome

    P164 IDS

    横纹肌样瘤

    Rhabdoid tumors

    P258 SMARCB1

    黄斑营养不良

    Macular dystrophy

    P229 OPA1

    I

    IGF1R、类胰岛素生长因子1受体

    Insulin-like growth factor 1 receptor (IGF1R)

    P217 IGF1R

    J

    肌酸转运蛋白,X-连锁

    Creatine transporter, x-linked

    P049 SLC6A8 - ABCD1

    肌小管性肌病,X-连锁的肌小管性肌病

    Myotubular myopathy, x-linked (XLMTM)

    P309 MTM1

    肌张力障碍

    Dystonia

    P059 Dystonia

    肌张力障碍、濑川氏病、肌阵挛 -肌张力障碍综合征

    Dopa-responsive dystonia, Segawa disease; Myoclonus- dystonia syndrome

    P099 GCH1-TH-SGCE

    急性淋巴细胞白血病(ALL

    ALL

    P329CRLF2-CSF2RA-IL3RA region

    急性淋巴细胞白血病(ALL

    ALL

    P335 ALL-IKZF1

    急性淋巴细胞白血病(ALL),iAMP21

    ALL, iAMP21

    P327 iAMP21 - ALL

    急性淋巴细胞白血病(ALL),慢性髓细胞性白血病

    Acute lymphoplastic leukemia (ALL), CML

    P202 IKZF1 (IKAROS)

    脊髓性肌肉萎缩症(SMA

    Spinal Muscular Atrophy (SMA)

    P021 SMA

    脊髓性肌肉萎缩症(SMA

    Spinal Muscular Atrophy (SMA)

    P060 SMA

    家族性青少年肾消耗病

    Familial juvenile nephronophthisis

    P387 NPHP1

    假性甲状旁腺机能减退(PHP)、澳氏遗传性骨营养不良症(AHO

    Albright hereditary osteodystrophy (AHO), Pseudohypoparathyroidism (PHP)

    ME031 GNAS

    结肠癌,遗传性胃癌

    Colon cancer, stomach cancer (hereditary)

    P378 MUTYH

    结肠腺瘤;大肠腺瘤;结直肠腺瘤

    Colorectal adenoma/carcinoma

    P413 CRC LOSS

    结节性硬化症

    Tuberous Sclerosis

    P046 TSC2

    结节性硬化症

    Tuberous Sclerosis

    P124 TSC1

    结节性硬化症

    Tuberous sclerosis

    P337 TSC2

    结晶角膜视网膜

    Crystalline Corneoretinal

    P149 CYP4V2

    惊跳病,过度惊骇

    Startle disease, Hyperekplexia

    P274 Startle disease

    痉挛性截瘫(HSP

    Spastic paraplegia, hereditary (HSP)

    P165 HSP

    痉挛性截瘫(HSPs

    Hereditary spastic paraplegias (HSPs)

    P213 HSP-2

    痉挛性截瘫(HSPs)区域

    Hereditary Spastic Paraplegias (HSPs) region

    P211 HSP region

    痉挛性截瘫(HSPSPG

    Hereditary spastic paraplegia (HSP or SPG)

    P306 SPG11

    K

    Kallmann综合征

    Kallmann syndrome

    P133 Kallmann-2

    Kallmann综合征,X-连锁

    Kallmann syndrome, x-linked

    P132 Kallmann-1

    kleefstra综合征

    9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome.

    P340 EHMT1

    抗凝血酶III缺乏症

    Antithrombin (III) deficiency

    P227 SerpinC1

    科恩综合征

    Cohen syndrome

    P321 VPS13B mix 1

    科恩综合征

    Cohen syndrome

    P322 VPS13B mix 2

    L

    Lacrimoauriculodentodigital综合征(LADD

    Autosomal dominant lacrimoauriculodentodigital (LADD)

    P231 FGF10-FGFR2

    Langer-Giedion综合征

    Trichorhinophalangeal syndrome type I (TRPS1), Langer- Giedion syndrome (LGS)

    P228 TRPS1-EXT1

    Leigh氏脑病、亚急性坏死性脑病

    Leigh Syndrome

    P427 PDHA1

    老年痴呆症/阿尔茨海默病,早发型

    Alzheimer disease, early-onset

    P170 APP

    老年痴呆症/阿尔茨海默病

    Alzheimer's disease (AD)

    P254 PSEN1

    勒伯尔氏先天性黑蒙

    Leber congenital amaurosis (LCA)

    P221 LCA mix-1

    勒伯尔先天性黑蒙(LCA

    Leber congenital amaurosis (LCA)

    P222 LCA mix-2

    雷特氏综合征

    RETT syndrome

    P015 MECP2

    雷特氏综合征

    Rett syndrome, atypical

    P189 CDKL5

    Pitt-Hopkins综合征2

    Pitt-Hopkins-like syndrome 2

    P379 NRXN1

    类固醇硫酸酯酶基因(STS

    Steroid Sulfatase gene (STS)

    P160 STS

    类胰岛素生长因子1受体(IGF1R

    Insulin-like growth factor 1 receptor (IGF1R)

    P217 IGF1R

    李佛美尼综合症(LFS

    Li-Fraumeni syndrome (LFS)

    P056 TP53

    李佛美尼综合症(LFS

    Li-Fraumeni syndrome (LFS)

    P056 TP53

    良性家族性新生儿惊厥(BFNC

    Benign familial neonatal convulsion (BFNC)

    P166 KCNQ2

    林岛综合征,视网膜和中枢神经血管母细胞瘤病

    Von Hippel-Lindau Syndrome

    P016 VHL

    淋巴细胞增生综合征,邓肯病

    Lymphoproliferative syndrome, x-linked (XLP). Duncan disease

    P205 XLP

    淋巴组织细胞增生症(家族性)

    Familial lymphohistiocytosis (HLH)

    P028 FHL

    硫嘌呤甲基转移酶

    Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase)

    P283 TPMT

    颅面疾病

    Craniofacial disorders

    P080 Craniofacial

    卵黄状黄斑营养不良

    Macular Dystrophy, Vitelliform

    P367 BEST1-PRPH2

    M

    MICPCHX-连锁的智力低下

    X-linked mental retardation and MICPCH

    P398 CASK

    马凡氏综合征

    Marfan syndrome

    P065 Marfan syndrome-1

    马凡氏综合征

    Marfan syndrome

    P066 Marfan syndrome-2

    马歇尔,II型斯蒂克勒综合征

    Marshall, type II Stickler syndromes

    P381 COL11A1 mix 1

    马歇尔,II型斯蒂克勒综合征

    Marshall, type II Stickler syndromes

    P382 COL11A1 mix 2

    慢性淋巴细胞白血病(CLL

    Chronic Lymphocytic Leukemia (CLL)

    P037 CLL-1

    慢性淋巴细胞白血病(CLL

    Chronic Lymphocytic Leukemia (CLL)

    P038 CLL-2

    慢性淋巴细胞白血病(CLL

    Chronic Lymphocytic Leukemia (CLL)

    P040 CLL

    毛细血管畸形,帕-韦二氏综合征,血管-骨肥大综合征

    capillary malformations, Parkes Weber syndrome

    P409 RASA1

    毛细血管扩张症(HHT),原发性肺动脉高压(PPH1

    Hemorrhagic telangiectasia, hereditary (HHT), Primary pulmonary hypertension (PPH1)

    P093 HHT/PPH1

    缅克斯病

    Menkes disease

    P104 Menkes disease

    面耳脊柱病(高林综合征)

    Gorlin syndrome

    P067 PTCH

    面生殖发育异常(FGDY),Aarskog-Scott综合征,阿斯综合征

    Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome

    P232 FGD1

    N

    NBIA(伴随脑铁积累的神经退化)

    Neurodegeneration with brain iron accumulation (NBIA)

    P120 PANK2/PLA2G6

    难语症、阅读障碍

    Dyslexia

    P150 Dyslexia

    脑白质营养不良

    Leukodystrophy

    P071 LMNB1, PLP1, NOTCH3

    脑海绵状血管瘤(CCM

    Cerebral Cavernous Malformations (CCM)

    P130 CCM mix-A

    脑海绵状血管瘤(CCM

    Cerebral Cavernous Malformations (CCM)

    P131 CCM mix-B

    内分泌肿瘤

    Multiple endocrine neoplasia (MEN)

    P244 AIP-MEN1

    内分泌肿瘤

    Multiple endocrine neoplasia

    P017 MEN1

    内分泌肿瘤

    Multiple endocrine neoplasia

    P107 Neurometabolic

    年龄相关性黄斑变性(ARMD

    Age-related macular degeneration (ARMD)

    P236 ARMD mix-1

    鸟氨酸氨基甲酰转移酶(OTC

    Ornithine cabamoyltransferase (OTC)

    P079 OTC

    凝血因子IX缺乏,圣诞疾病(B型血友病)、血友病

    Factor IX deficiency, Christmas disease

    P207 F9

    粘多糖贮积症,亨特综合征

    Mucopolysaccharidosis type II, or Hunter syndrome

    P164 IDS

    P

    Pelizaeus-Merzbacher病、佩梅病

    Pelizaeus-Merzbacher disease (PMD)

    P022 PLP1

    Pendred综合征

    Pendred syndrome

    P280 SLC26A4

    Phelan-Mcdermid综合征,端粒单体 22q13.3

    Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3

    P188 22q13

    PROS1不足

    PROS1 deficiency

    P112 PROS1

    帕金森病

    Parkinson disease, familial

    P051 Parkinson mix 1

    帕金森病

    Parkinson disease, familial

    P052 Parkinson mix 2

    匹克氏病,阿尔茨海默氏症,额颞叶痴呆症,皮层基底节变性,进行性核上性麻痹

    Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy

    P275 MAPT-GRN

    偏瘫性偏头痛

    Episodic ataxia 2, Familial hemiplegic migraine

    P279 CACNA1A

    贫血

    Diamond-Blackfan anemia (DBA)

    P212 DBA

    葡萄膜黑色素瘤

    Uveal Melanoma

    P027 Uveal Melanoma

    葡萄糖转运酶1缺乏综合症

    Glut1 deficiency syndrome

    P138 SLC2A1

    普瑞德威利症候群 PWS),安琪儿综合征, 天使人综合症 AS

    Prader Willi syndrome (PWS), Angelman syndrome (AS)

    ME028 Prader Willi/Angelman

    Q

    前脑无裂畸形(HPE

    Holoprosencephaly (HPE)

    P187 Holoprosencephaly (HPE)

    青春晚期糖尿病(MODY

    Maturity-Onset Diabetes of the Young (MODY)

    P241 MODY mix-1

    青春晚期糖尿病(MODY

    Maturity-Onset Diabetes of the Young (MODY)

    P357 MODY mix-2

    青少年肾消耗病

    Familial juvenile nephronophthisis

    P387 NPHP1

    趋化因子

    Chemokines

    P247 Chemokine-2

    R

    RETT 综合征、雷特氏综合征

    RETT syndrome

    P015 MECP2

    RETT 综合征、非典型雷特氏综合征

    Rett syndrome, atypical

    P189 CDKL5

    染色体非整倍性(唐氏综合症,爱德华综合症,帕韬氏综合症)

    Down syndrome, Edwards syndrome, Patau syndrome

    P095 Aneuploidy

    Rubinstein–Taybi综合征(RSTS)、大拇指综合征

    Rubinstein–Taybi syndrome (RSTS)

    P313 CREBBP

    Rubinstein–Taybi综合征(RSTS)、大拇指综合征

    Rubinstein–Taybi syndrome (RSTS)

    P333 EP300

    溶血性尿毒症综合征

    Hemolytic uremic syndrome, typical (aHUS)

    P296 aHUS

    溶血性贫血

    Haemolytic Anaemia, hereditary non-spherocytic

    P203 PKLR

    肉瘤和其他类型的肿瘤

    Sarcoma and other tumour types

    P323 CDK4-HMGA2-MDM2

    乳腺癌

    Breast cancer

    P239 BRCA1 region

    乳腺癌

    Breast tumour

    P078 Breast tumour

    乳腺癌普

    BRCA1-like breast cancer profile

    P376 BRCA1ness

    乳腺癌易感性

    Breast cancer susceptibility

    P190 CHEK2

    S

    Simpson-Golab-iBehmel综合征

    Simpson-Golabi-Behmel syndrome (SGBS)

    P154 GPC3-GPC4

    SPRED1

    SPRED1

    P295 SPRED1

    Sotos综合征(脑性巨大发育综合征)

    Sotos syndrome

    P026 Sotos syndrome

    鳃耳肾发育不良综合征((BOR

    Branchio-oto-renal dysplasia syndrome (BOR)

    P153 EYA1

    三甲基巴豆醯基甘胺酸尿症

    3-methylcrotonylglycinuria I and II

    P194 MCCC

    色素性视网膜炎

    Retinitis Pigmentosa

    P235 Retinitis

    色素性视网膜炎(RP

    Retinitis pigmentosa (RP)

    P366 CHM-RP2-RPGR

    上皮-钙粘连素/CDH1基因

    CDH1 or E-cadherin

    P083 CDH1

    少突神经胶质瘤

    Oligodendroglioma

    P088 Oligodendroglioma

    身高

    Human Height

    P384 Human Height

    神经胶质瘤

    Gliomas

    P370 BRAF-IDH1-IDH2

    神经母细胞瘤

    Neuroblastoma

    P252 NB mix 2

    神经母细胞瘤

    Neuroblastoma

    P251 NB mix 1

    神经母细胞瘤

    Neuroblastoma

    P252 NB mix 2

    神经母细胞瘤

    Neuroblastoma

    P253 NB mix 3

    神经退行性疾病

    Neurodegenerative diseases

    P299 NOS

    神经纤维瘤病

    Neurofibromatosis

    P081 NF1 mix 1

    神经纤维瘤病

    Neurofibromatosis

    P082 NF1 mix 2

    神经纤维瘤病

    Neurofibromatosis

    P122 NF1-area

    神经纤维瘤病(NF2

    Neurofibromatosis type 2 (NF2)

    P044 NF2

    生长激素不敏感

    Growth Hormone Insensitivity (GHI)

    P262 GHI

    生长激素缺乏症(GHD

    Growth Hormone Deficiency (GHD)

    P216 Growth Hormone Deficiency mix -1

    圣诞疾病(B型血友病)、血友病、凝血因子IX缺乏

    Factor IX deficiency, Christmas disease

    P207 F9

    实体瘤

    Tumours, solid

    P315 EGFR

    史密斯 - 马盖尼斯综合征

    Smith-Magenis syndrome

    P369 Smith-Magenis

    视网膜和中枢神经血管母细胞瘤病,VHL综合征、林岛综合征

    Von Hippel-Lindau Syndrome

    P016 VHL

    嗜铬细胞瘤

    Paragangliomas (PGL)

    P226 SDH

    鼠炎症RNA

    Mouse Inflammation RNA

    RM001 Mouse Inflammation

    斯特格病变,黄斑营养不良,视网膜色素变性,年龄相关性黄斑变性

    Stargardt, Macular dystrophy, Retinitis pigmentosa, age- related macular degeneration

    P151 ABCA4 mix-1

    斯特格病变,黄斑营养不良,视网膜色素变性,年龄相关性黄斑变性

    Stargardt, Macular dystrophy, Retinitis pigmentosa, age- related macular degeneration

    P152 ABCA4 mix-2

    松皮症、埃勒斯-当洛综合征

    Ehlers-Danlos Syndrome

    P331 COL5A1 MIX-1

    髓母细胞瘤

    Medulloblastoma

    P301 Medulloblastoma mix 1

    髓母细胞瘤

    Medulloblastoma

    P302 Medulloblastoma mix 2

    髓母细胞瘤

    Medulloblastoma

    P303 Medulloblastoma mix 3

    T

    泰萨二氏病、家族黑蒙性白痴

    Tay-Sachs Disease

    P199 HEXA

    唐氏综合症,爱德华综合症,帕韬氏综合症

    Down syndrome, Edwards syndrome, Patau syndrome

    P095 Aneuploidy

    糖尿病(II型)

    Obesity, Diabetes mellitis type II, Familial partial lipodystrophy III, Colon cancer

    P224 PPARG

    特发性发育迟缓

    Idiopathic growth retardation

    P018 SHOX

    天使人综合症、安琪儿

    Angelman

    P336 UBE3A

    V

    Van der Woude综合征(VWS)唇裂与腭裂综合征、

    Van der Woude syndrome (VWS)

    P304 IRF6

    Von Hippel-Lindau综合征,视网膜和中枢神经血管母细胞瘤病

    Von Hippel-Lindau Syndrome

    P016 VHL

    W

    瓦登伯革氏综合征(II型)、1型,3

    Waardenburg syndrome (WS) type II, WS1, WS3

    P186 PAX3-MITF-SOX10

    外胚层发育不良,X-连锁(XLHED

    Ectodermal dysplasia, x-linked (XLHED)

    P183 EDA-EDAR-EDARADD

    微缺失追踪

    Microdeletion follow-up

    P374 Microdeletion syndromes 8

    微缺失追踪

    Microdeletion follow-up

    P371 Microdeletion syndromes 5

    微缺失追踪

    Microdeletion follow-up

    P372 Microdeletion syndromes 6

    微缺失追踪

    Microdeletion follow-up

    P373 Microdeletion syndromes 7

    微缺失追踪

    Microdeletion follow-up

    P374 Microdeletion syndromes 8

    微缺失综合征

    Microdeletion syndromes

    P245 Microdeletion Syndromes-1

    微缺失综合征

    Microdeletion syndromes

    P297 Microdeletion Syndromes-2

    微绒毛包涵体病(MVID

    Microvillus Inclusion Disease (MVID)

    P394 MYO5B

    无丙种球蛋白血症

    Agammaglobulinemia

    P210 BTK

    无脑回畸形

    Lissencephaly

    P061 Lissencephaly

    X

    息肉性结肠癌

    Hereditary Polyposis Colon Cancer

    P043 APC

    细胞色素P-450

    Cytochrome P-450

    P128 Cytochrome P-450

    先天性肌强直,汤姆生氏病,贝克氏病, Andersen-Tawil综合症

    Myotonia congenita, Thomsen’s disease, Becker’s disease, Andersen-Tawil syndrome

    P350 CLCN1-KCNJ2

    先天性肌营养不良,分区蛋白缺陷

    CMD, Merosin-deficient

    P391 LAMA2 mix1

    先天性肌营养不良,分区蛋白缺陷

    CMD, Merosin-deficient

    P392 LAMA2 mix2

    先天性角化不良(DC

    Dyskeratosis congenita (DC)

    P257 TERT-DKC1

    先天性巨结肠症

    Hirschsprung disease

    P318 Hirschsprung-2

    先天性巨结肠症,先天无神经节性巨结肠胚

    Hirschsprung disease, or Aganglionic Megacolon

    P169 Hirschsprung

    先天性氯化物腹泻

    Congenital Chloride Diarrhoea

    P393 SLC26A3

    先天性肾上腺皮质增生症

    Congenital adrenal hyperplasia (CAH)

    P312 POR

    先天性肾上腺增生症

    Congenital Adrenal Hyperplasia

    P050 CAH

    先天性心脏病(冠心病)

    Congenital Heart Disease (CHD)

    P311 Congenital Heart Disease

    先天性眼震

    Congenital nystagmus

    P269 FRMD7

    先天性长QT综合征(LQT

    Congenital long QT syndrome (LQT)

    P114 Long-QT

    纤毛运动障碍(PCD

    Primary ciliary dyskinesia (PCD)

    P237 DNAI1

    纤毛运动障碍(PCD

    Primary ciliary dyskinesia (PCD)

    P238 DNAH5

    线粒体3-羟基-3-甲基辅酶A合酶(mHMGS

    Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase(mHMGS)

    P068 HMGCS2

    线粒体DNAmtDNA

    Mitochondrial DNA (mtDNA)

    P125 Mitochondria

    线粒体DNA耗竭综合征

    mtDNA depletion syndrome

    P089 TK2

    线粒体维护

    Mitochondrial maintenance

    P010 POLG

    小髌骨综合征

    Small Patella Syndrome

    P390 TBX4 -17q23

    小鼠细胞凋亡mRNA

    Mouse apoptosis mRNA

    RM002 Apoptosis probemix

    小头畸形

    Primary Microcephaly

    P355 Primary Microcephaly

    心律失常性右心室发育不良/心肌病(ARVD / C

    Arrhythmogenic Right Ventricular
    Dysplasia/Cardiomyopathy (ARVD/C)

    P168 ARVC-PKP2

    心脏室间隔缺损

    Cardiac septal defects

    P234 GATA4

    新生儿惊厥(家族性II型)、癫痫良性新生儿(EBN2

    Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)

    P197 KCNQ3

    性别决定

    Sex determination

    P185 Intersex

    性腺发育障碍

    Gonadal Development Disorder

    P334 Gonadal

    雄激素不敏感综合征(AIS

    Androgen insensitivity syndrome (AIS)

    P074 Androgen receptor (AR)

    修复基因

    Repair genes

    ME046 Repair genes

    血管水肿(HAE

    Hereditary angioedema (HAE)

    P243 SERPING1

    血管性血友病/Von Willebrand病(VWD

    Von Willebrand Disease (vWD)

    P011 VWF mix 1

    血管性血友病/Von Willebrand病(VWD

    Von Willebrand Disease (vWD)

    P012 VWF mix 2

    血色病(HH

    Hereditary hemochromatosis (HH)

    P347 Hemochromatosis

    血液恶性肿瘤

    Hematological malignancies, various

    P377 Hematologic Malignancies

    血友病、凝血因子IX缺乏,圣诞疾病(B型血友病)

    Factor IX deficiency, Christmas disease

    P207 F9

    血友病/Von Willebrand病(VWD

    Von Willebrand Disease (vWD)

    P011 VWF mix 1

    血友病/Von Willebrand病(VWD

    Von Willebrand Disease (vWD)

    P012 VWF mix 2

    血友病AX-连锁

    Haemophilia A, x-linked

    P178 F8

    Y

    亚端粒筛选

    Subtelomeric screening

    P208 Human Telomere-6

    亚端粒筛选

    Subtelomeric screening

    P230 Human Telomere-7

    亚端粒筛选

    Subtelomeric screening

    P249 Human Telomere-8

    亚端粒筛选

    Subtelomeric screening

    P264 Human Telomere-9

    亚端粒筛选

    Subtelomeric screening

    P277 Human Telomere-10

    亚端粒筛选

    Subtelomeric screening

    P286 Human Telomere-11

    亚端粒筛选

    Subtelomeric screening

    P291 Human Telomere-12

    亚端粒筛选

    Subtelomeric screening

    P320 Human Telomere-13

    亚端粒筛选

    Subtelomeric screening

    P365 Human Telomere-14

    亚端粒筛选

    Subtelomeric screening

    P356 Chromosome 22q

    亚端粒筛选

    Subtelomeric screening

    P358 Human Telomere-15

    延胡索酸酶缺乏症(FH

    Fumarase deficiency (FH)

    P198 Fumarase deficiency (FH)

    严重联合免疫缺陷和欧门氏综合征

    SCID and Omenn syndrome

    P368 DCLRE1C

    眼部畸形

    Ocular malformations, hereditary

    P219 PAX6

    眼科遗传性异常

    Ophthalmogenetic anomalies

    P054 FOXL2-TWIST1

    眼皮肤白化病

    oculocutaneous albinism

    P325 OCA2

    药物转运泵

    Drug-transport pump

    P109 ABCB4

    胰腺炎(HP

    Hereditary Pancreatitis (HP)

    P242 Pancreatitis

    遗传型非息肉瘤结肠癌(HNPCC)

    Colon cancer, hereditary non-polyposis (HNPCC)

    P248 MLH1-MSH2

    遗传性乳腺癌

    Breast cancer, hereditary

    P002 BRCA1

    遗传性乳腺癌

    Breast cancer, hereditary

    P087 BRCA1

    遗传性乳腺癌

    Breast cancer, hereditary

    P045 BRCA2/CHEK2

    遗传性乳腺癌

    Breast cancer, hereditary

    P090 BRCA2

    遗传性乳腺癌

    Breast cancer, hereditary

    P077 BRCA2

    遗传性神经痛肌肉萎缩(HNA

    Hereditary neuralgic amyotrophy (HNA)

    P307 SEPT9

    遗传性肾炎,Alport综合征

    Alport syndrome, Hereditary Nephritis

    P191 COL4A5 mix-1

    遗传性肾炎,Alport综合征

    Alport syndrome, Hereditary Nephritis

    P192 COL4A5 mix-2

    尤塞氏综合症

    Usher syndrome

    P292 PCDH15

    尤塞氏综合症

    Usher syndrome

    P361 USH2A mix 1

    尤塞氏综合症

    Usher syndrome

    P362 USH2A mix 2

    幼年性息肉病综合征(JPS

    Juvenile polyposis syndrome (JPS)

    P158 Juvenile polyposis syndrome (JPS)

    原发性肉碱/VLCAD

    VLCAD/Primary Carnitine

    P076 ACADVL-SLC22A5

    远端脊肌萎缩症1型(DSMA1),SMARD1dHMN6

    Distal spinal muscular atrophy 1 (DSMA1), SMARD1, dHMN6

    P058 IGHMBP2

    阅读障碍、难语症

    Dyslexia

    P150 Dyslexia

    Z

    着色斑性息肉消化道综合征(PJS

    Peutz-jeghers syndrome (PJS)

    P101 STK11

    着丝粒筛选

    Centromeric screening

    P181 Centromere-1

    着丝粒筛选

    Centromeric screening

    P182 Centromere-2

    肢带肌营养不良症(LGMD

    Limb girdle muscular dystrophies (LGMD)

    P268 DYSF

    肢带型肌营养不良(LGMD

    Limb-girdle muscular dystrophy (LGMD)

    P116 SGC

    肢带型肌营养不良,肌原纤维肌病

    Laminopathies, Limb-girdle muscular dystrophy, Myofibrillar myopathies

    P048 LMNA/MYOT/ZMPSTE24

    肢带型肌营养不良2ALGMD2A

    Limb girdle muscular dystrophy 2A (LGMD2A)

    P176 CAPN3

    肢体畸形

    Limb malformations

    P179 Limb malformations-1

    肢体畸形(心脏)

    Limb malformations, heart

    P180 Limb malformations-2

    脂肪代谢障碍

    Obesity, Diabetes mellitis type II, Familial partial lipodystrophy III, Colon cancer

    P224 PPARG

    脂酶缺乏症

    LPL deficiency

    P218 LPL

    指甲髌骨综合征(NPS

    Nail patella syndrome (NPS)

    P289 LMX1B

    智力低下

    Mental retardation, Wolf-Hirschlorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki

    P096 Mental retardation-2

    智力低下

    mental retardation

    P395 MEF2C-FOXG1

    智力低下(X-连锁)和MICPCH

    X-linked mental retardation and MICPCH

    P398 CASK

    智力低下, 1P-缺失,Williams, Smith- Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos

    Mental Retardation; 1p-deletion, Williams, Smith- Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos

    P064 Mental Retardation-1

    肿瘤

    Tumours

    P173 Gain-3

    肿瘤,皮肤黑色素瘤

    Tumours, Cutaneous melanoma

    ME024 9p21 CDKN2A/2B region

    肿瘤,缺失

    Tumour-Loss

    P294 Tumour-Loss

    肿瘤,增加

    Tumour-gain

    P175 Tumour-Gain

    肿瘤分析

    Tumour analysis

    P284 RBM14-11q13

    肿瘤研究

    Tumour research

    P014 Chromosome 8

    肿瘤抑制基因

    Tumour suppressor genes

    ME001 Tumour Sup.-1

    肿瘤抑制基因

    Tumour suppressor genes

    ME002 Tumour Sup.-2

    肿瘤抑制基因

    Tumour suppressor genes

    ME003 Tumour Sup.-3

    肿瘤抑制基因

    Tumour suppressor genes

    ME004 Tumour Sup.-4

    侏儒症(CDLS

    Cornelia de Lange syndrome (CDLS)

    P141 NIPBL-1

    侏儒症(CDLS

    Cornelia de Lange syndrome (CDLS)

    P142 NIPBL-2

    侏儒综合征(RSS),Beckwith-wiedemann综合征(BWS

    Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS)

    ME030 BWS/RSS

    主动脉瘤综合征

    Aortic aneurysm syndrome

    P148 TGFBR

    紫质症,卟啉症

    Porphyrias

    P411 Porphyria probemix 1

    紫质症,卟啉症

    Porphyrias

    P412 Porphyria probemix 2

    自闭症

    Autism

    P343 Autism-1

    自闭症谱系障碍

    Autism Spectrum Disorder

    P339 SHANK3

    自闭症谱系障碍

    Autism-spectrum disorder

    P396 SHANK2