PGD List

1 achondroplasia (ach) fgfr3 软骨发育不良（ACh）FGFR3
2 acyl-coa dehydrogenase, medium-chain, deficiency acadm 酰基辅酶A脱氢酶，中链，缺乏ACADM
3 acyl-coa dehydrogenase, very long-chain, deficiency acadvl 酰基辅酶A脱氢酶，长链，缺乏ACADVL
4 adenosine deaminase deficiency (ada) ada 腺苷脱氨酶缺乏症（ada）
5 adrenoleukodystrophy (ald) abcd1 肾上腺脑白质营养不良（ALD）
6 agammaglobulinemia, bruton; x-linked, type i btk 丙种球蛋白血症，布鲁顿；X，I型BTK
7 aicardi-goutieres sydnrome 1 (ags1) trex1 Aicardi综合征1（TREX1 goutieres AGS1）
8 albinism, ocular, type i oa1 白化病，眼，I型OA1
9 alopecia universalis congenita (alunc) hr 先天性普秃（alunc）hr
10 alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis  plgg 异常的脑灰质肝硬化弥漫性变性  POLG
12 alpha 1 antitrypsin deficiency (aat) serpina1 α1抗胰蛋白酶缺乏症（AAT）SERPINA
13 alport syndrome, x-linked (ats) ammecr1 X连锁Alport综合征，ammecr1（ATS）
14 alzheimer disease, early-onset familial app 阿尔茨海默病，早发性家族性 app
15 amyloidosis i, hereditary neuropathic ttr 淀粉样变的我，遗传性神经病的TTR
16 amyotrophic lateral sclerosis 1 (als1) sod1 肌萎缩侧索硬化1（白色）SOD1
17 androgen receptor (testicular feminization) ar 雄激素受体（AR睾丸女性化）
18 aneuploidies by str genotyping 通过STR分型检测
19 angioedema, hereditary (hae) serping1 遗传性血管性水肿（HAE），SERPING1
20 argininosuccinic aciduria asl 精氨基琥珀酸ASL
21 ataxia-telangiectasia (at) atm ATM共济失调毛细血管扩张症（AT）
22 basal cell nevus syndrome; bcns (gorlin) ptch 基底细胞痣综合征；基底细胞痣综合征（格林）PTCH
23 beta-hydroxyisobutyryl coa deacylase, deficiency of hibch β-羟异丁酰 CoA缺乏   hibch
24 blepharophimosis, ptosis, and epicanthus inversus (bpes) foxl2 睑裂，上睑下垂，逆向内眦赘皮（BPES）FOXL2
25 blood group--kell-cellano system kel 血型——凯尔-塞拉诺系统  kel
26 brachydactyly, type b1 (bdb1) ror2 短趾，B1型（BDB1）ROR2
27 brain tumor, posterior fossa of infancy, familial smarcb1 脑肿瘤，婴幼儿后颅窝，家族SMARCB1
28 breast-ovarian cancer, familial brca1 家族性乳腺癌-卵巢癌，BRCA1
29 breast-ovarian cancer, familial brca2 乳腺癌-卵巢癌，家族BRCA2
30 canavan disease aspa 卡纳万病协会
32 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 心脑肌病，致命的婴儿，由于细胞色素C 氧化酶缺乏
35 cardiomyopathy, familial hypertrophic, 4 (cmh4) mybpc3 家族性肥厚型心肌病，4，（cmh4）MYBPC3
36 ceroid lipofuscinosis, neuronal 2, late infantile; cln2 cln2 神经元蜡样质脂褐质，2，婴儿后期CLN2 CLN2；
37 charcot-marie-tooth disease, axonal, type 2e nefl 腓骨肌萎缩症，轴突，2E NEFL类型
38 charcot-marie-tooth disease, demyelinating, type 1a (cmt1a) pmp22 腓骨肌萎缩症，脱髓鞘，1A型（CMT1A）PMP22
39 charcot-marie-tooth disease, demyelinating, type 1b (cmt1b) mpz 腓骨肌萎缩症，脱髓鞘，1B型（CMT1B）MPZ
40 charcot-marie-tooth disease, x-linked, 1; cmtx1 gjb1 腓骨肌萎缩症CMTX1 GJB1，连锁，1；
41 cholestasis, progressive familial intrahepatic 2 abcb11 进行性家族性肝内胆汁淤积，2泵
42 chondrodysplasia punctata 1, x-linked recessive (cdpx1) arse 软骨发育异常1，X-连锁隐性遗传（CDPX1）arse
43 choroideremia (chm) chm 无脉络膜（CHM）CHM
44 citrullinemia, classic ass 瓜氨酸血症，经典的ass
45 cohen syndrome (coh1) vps13b 科恩综合征（coh1）vps13b
46 collagen, type iv, alpha-5 col4a5 胶原，IV型，alpha-5 COL4A5
47 congenital adrenal hyperplasia (cah) cyp21a2 先天性肾上腺皮质增生症（CAH）CYP21A2
48 corneal dystrophy, avellino type (cda) tgfb1 角膜营养不良，Avellino型（CDA）的TGF-β
49 craniofacial dysostosis, type i (cfd1) fgfr2 颅面骨发育障碍，I型（FGFR2 cfd1）
50 currarino syndrome hlxb9 hlxb9 Currarino综合征
51 cutis laxa, autosomal recessive, type i fbln4 皮肤松弛，常染色体隐性遗传，I型fbln4
52 cystic fibrosis (cf) cftr 囊性纤维化（CF）的CFTR
53 cystinosis, nephropathic (ctns) ctns 胱氨酸，肾病（箱）ctns
54 darier-white disease (dar) atp2a2 毛囊角化症（DAR）ATP2A2
55 deafness, neurosensory, autosomal recessive 1 (dfnb1) gjb2 聋，感音神经性，常染色体隐性遗传1（DFNB1）GJB2
56 diamond-blackfan anemia (dba) rps19 先天性再生障碍性贫血（DBA）RPS19
57 donohue syndrome insr 多诺霍综合征胰岛素受体
58 ectodermal dysplasia 1, anhidrotic ed1 外胚层发育不良1，止汗药ED1
59 ectodermal dysplasia, anhidrotic edar 外胚层发育不良，止汗药EDAR
60 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 (eec1)  P63 缺指畸形，外胚层发育不良，先天性唇腭裂综合征1 \ (eec1)  P63
63 ehlers-danlos syndrome, type vi plod1 Ehlers-Danlos综合征，VI型引起的PLOD1
64 emery-dreifuss muscular dystrophy, autosomal recessive; edmd3 lmna Emery-Dreifuss肌营养不良，常染色体隐性遗传；edmd3 LMNA
65 emery-dreifuss muscular dystrophy, x-linked (edmd) emd Emery-Dreifuss肌营养不良，连锁（EDMD）EMD
66 epidermolysis bullosa dystrophica, pasini type col7a1 萎缩性大疱性表皮松解型COL7A1，2004.
67 epidermolysis bullosa letalis lamb3 致死性大疱性表皮松解LAMB3
68 epidermolysis bullosa simplex with pyloric atresia plec1 大疱性表皮松解症与幽门闭锁plec1
69 epiphyseal dysplasia, multiple, 1 (edm1) comp 骨骺发育不良，多，1（EDMI）comp
70 exostoses, multiple, type i ext1 外生骨疣，多，I型EXT1
72 fabry disease gla Fabry病的GLA
73 facioscapulohumeral muscular dystrophy 1a (fshmd1a) frg1 面肩肱型肌营养不良症1A（FRG1 fshmd1a）
74 familial adenomatosis polyposis (fap) apc 家族性腺瘤性息肉（FAP）的APC
75 familial mediterranean fever gene mefv 家族性地中海热MEFV基因
76 fanconi anemia, complementation group a fanca 范可尼贫血FANCA，A组
77 fanconi anemia, complementation group c fancc 范可尼贫血互补，C组FANCC
78 fanconi anemia, complementation group e fance 范可尼贫血互补组E，fance
79 fanconi anemia, complementation group f fancf 范可尼贫血互补，F组FANCF
80 fanconi anemia, complementation group g fancg 范可尼贫血，互补群G FANCG
81 fanconi anemia, complementation group i fanci 范可尼贫血，互补组iFANCI
82 fanconi anemia, complementation group j brip1 范可尼贫血，互补组J BRIP1
83 fragile site mental retardation 1 fmr1 精神发育迟滞1 FMR1脆性位点
84 fragile site, folic acid type, rare, fra(x)(q28); (fraxe) fmr2 脆性位点，叶酸类型，罕见，FRA（x）（28）；（FMR2 FRAXE）
85 friedreich ataxia 1 (frda) frda Friedreich共济失调1 FRDA（FRDA）
86 galactosemia galt 半乳糖血症GALT
87 gangliosidosis, generalized gm1, type i glb1 神经节苷脂GM1，广义，I型GLB1
88 gaucher disease, type i gba I型戈谢病，GBA
89 geroderma osteodysplasticum (go) scyl1bp1 老年样皮肤osteodysplasticum（go）scyl1bp1
90 glaucoma 3, primary congenital, a (glc3a) cyp1b1 原发性先天性青光眼，3，一个（GLC3A）CYP1B1
91 glucose transport defect; blood-brain barrier slc2a1 葡萄糖转运缺陷；血脑屏障SLC2A1
92 glucose-6-phosphate dehydrogenase g9pd 葡萄糖-6-磷酸脱氢酶g9pd
93 glutaric acidemia 1 gcdh 戊二酸血症1 GCDH
94 glycine encephalopathy (gce) gldc 甘氨酸脑病（GCE）GLDC
95 glycogen storage disease i g6pc 糖原贮积病我G6PC
96 glycogen storage disease ii gaa 糖原贮积症II GAA
97 glycogen storage disease type vi pygl 型糖原累积病VI PYGL
98 granulomatous disease, chronic, x-linked (cgd) cybb 肉芽肿性疾病，慢性，连锁（CGD）CYBB
99 hemoglobin--alpha locus 1 hba1 血红蛋白——阿尔法轨迹1糖化血红蛋白
100 hemoglobin--alpha locus 2 hba2 血红蛋白——阿尔法轨迹2血红蛋白
101 hemoglobin--beta locus hbb 血红蛋白——β基因HB
102 hemophagocytic lymphohistiocytosis, familial, 2 prf1 家族性噬血细胞综合征，2，穿孔素
103 hemophilia a f8 血友病A F8
104 hemophilia b f9 血友病B F9
105 hereditary nonpolyposis colorectal cancer (hnpcc) msh2 性结直肠癌（HNPCC）MSH2
106 hereditary nonpolyposis colorectal cancer (hnpcc) mlh1 性结直肠癌（HNPCC）MLH1
107 hla matching genotyping HLA配型
108 holoprosencephaly shh 前脑无裂畸形
110 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity 高胱氨酸尿症由于缺乏N（10）— 亚甲基四氢叶酸还原酶活性
113 hoyeraal-hreidarsson syndrome (hhs) dkc1 hoyeraal Hreidarsson综合征（HHS）DKC1
114 huntington disease (hd) htt 亨廷顿舞蹈病（HD）HTT
115 hydrocephalus, x-linked l1cam 脑积水，X连锁型
116 hyperinsulinemic hypoglycemia, familial, 1 (hhf1) abcc8 高胰岛素低血糖，家族，1（ABCC8 HHF1）
117 hypomagnesemia, renal, with ocular involvement cldn16 低镁血症，肾，与眼肌受累CLDN16
118 hypophosphatasia, infantile alpl 低磷酸酯酶症，小儿ALPL
119 hypophosphatemic rickets, x-linked dominant phex 低磷性佝偻病，X连锁显性PHEX
120 ichthyosis follicularis, atrichia, and photophobia syndrome mbtps2 毛囊性鱼鳞病，无毛，、畏光综合征Mbtps2
121 ichthyosis, lamellar, 1 (li1) tgm1 层状鱼鳞病，，1（LI1）患者
122 ichthyosis, lamellar, 2 (li2) abca12 层状鱼鳞病，ABCA12，2（LI2）
123 immunodeficiency with hyper-igm, type 1 (higm1) cd40lg 超IgM免疫缺陷，1型（HIG
124 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked  (ipex) foxp3 免疫失调性多(种)内分泌腺病，病，X-连锁  (ipex) foxp3
127 incontinentia pigmenti (ip) ikbkg 色素失调症（IP）IKBKG
128 isovaleric acidemia (iva) ivd 异戊酸血症（IVA）椎间盘
129 krabbe disease galc 克拉伯病GalC
130 leigh syndrome (ls) surf1 Leigh综合征（LS）SURF1
131 leukoencephalopathy with vanishing white matter (vwm) eif2b2 消失的白质脑病（VWM）eif2b2
132 leukoencephalopathy with vanishing white matter (vwm) eif2b4 消失的白质脑病（VWM）eif2b4
133 li-fraumeni syndrome 1 (lfs1) tp53 1（lfs1）TP53 Li-Fraumeni综合征
134 loeys-dietz syndrome (lds) tgfbr2 61洛伊斯-迪茨综合征（LDS）TGFBR2
135 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency hadha 长链羟酰基辅酶A脱氢酶缺乏HADHA
136 machado-joseph disease (mjd) atx3 Machado-Joseph病（MJD）atx3
137 marfan syndrome (mfs) fbn1 马凡氏综合症（MFS）基因
138 metachromatic luekodystropy arsa 异染luekodystropy ARSA
139 metaphyseal chondrodysplasia, schmid type (mcds) col10a1 Schmid型干骺端软骨，（MCDS）Col10a1
140 microcoria-congenital nephrosis syndrome lamb2 先天性小瞳孔肾病综合征  LAMB2
141 microtubule-associated protein tau mapt 微管相关蛋白tau MAPT
142 migraine, familial hemiplegic, 1 (fhm1) cacna1a 偏头痛，家族性偏瘫，1（FHM1 CACNA1A）
143 morquio syndrome, nonkeratosulfate-excreting type; 莫基奥综合征，nonkeratosulfate-excreting型；
144 mucopolysaccharidosis type iva  galns 粘多糖贮积症IVA型 galns
146 mucopolysaccharidosis type i (hurler) idua 粘多糖贮积症I型（hurler）idua
147 mucopolysaccharidosis type ii (hunter) ids 粘多糖贮积症II型（hunter）ids
148 mucopolysaccharidosis type vi (maroteaux-lamy) arsb 粘多糖贮积症Ⅵ型（Maroteaux拉米）ARSB
149 multiple acyl-coa dehydrogenase deficiency (madd) etfa 多个酰基辅酶A脱氢酶缺乏症（MADD）etfa
150 multiple endocrine neoplasia, type i men1 多内分泌腺瘤病Ⅰ型患者，
167 multiple endocrine neoplasia, type iia ret 多内分泌腺瘤病，IIA型RET
168 muscular dystrophy, becker type (bmd) dmd 贝克尔型肌营养不良（DMD，BMD）
169 muscular dystrophy, duchenne type (dmd) dmd Duchenne型肌营养不良症（DMD），
170 myopathy, myofibrillar, desmin-related des 肌病，肌原纤维蛋白，结蛋白相关的DES
171 myotonic dystrophy dmpk 强直性肌营养不良症DMPK
172 myotubular myopathy 1 mtm1 肌管性肌病1应用
173 n-acetylglutamate synthase deficiency nags 乙酰谷氨酸合成酶缺乏症nags
174 nephrosis 1, congenital, finnish type nphs1 芬兰型先天性肾病1，，NPHS1
175 neurofibromatosis, type i nf1 神经纤维瘤病，I型NF1
176 neurofibromatosis, type ii; nf2 神经纤维瘤病，Ⅱ型；NF2
177 neuropathy, hereditary sensory and autonomic, type i (hsan1) sptlc1 神经病，遗传性感觉和自主，I型（SPTLC1 hsan1）
178 neuropathy, hereditary sensory and autonomic, type iii (hsan3) ikbkap 神经病，遗传性感觉和自主，III型（hsan3）IKBKAP
179 niemann-pick disease, type a smpd1 A型尼曼-匹克病，smpd1
180 noonan syndrome 1 (ns1) ptpn11 努南综合征1（NS1）PTPN11
181 norrie disease ndp 诺里病NDP
182 oculocutaneous albinism, type i (oca1) tyr 眼皮肤白化病，I型（OCA1）酪氨酸
183 oculocutaneous albinism, type ii (oca2) oca2 眼皮肤白化病，II型（OCA2）OCA2
184 omenn syndrome rag1  Omenn综合征 RAG1
185 optic atrophy 1 opa1 视神经萎缩1 OPA1
186 ornithine transcarbamylase deficiency otc 鸟氨酸酶缺乏症 otc
187 osteogenesis imperfecta congenita (oi) col1a1 先天性成骨不全症（OI）COL1A1
188 osteogenesis imperfecta congenita (oi) col1a2 先天性成骨不全症（OI）colla2
189 osteopetrosis, autosomal recessive tcirg1 骨硬化病，常染色体隐性遗传性TCIRG1
190 pancreatitis, hereditary (pctt) prss1 遗传性胰腺炎，胰蛋白酶原（pctt等等）
191 pelizaeus-merzbacher-like disease (pmld) plp1 中枢神经系统髓鞘形成障碍性疾病（PMLD）PLP1
192 peutz-jeghers syndrome (pjs) stk11 黑斑息肉综合征（PJS）STK11
193 phenylketonuria pah 苯丙酮尿症PAH
194 polycystic kidney disease 1 pkd1 多囊肾1 PKD1
195 polycystic kidney disease 2 pkd2 多囊肾2 PKD2
196 polycystic kidney disease, autosomal recessive (arpkd) pkhd1 多囊肾病，常染色体隐性遗传（ARPKD）PKHD1
197 popliteal pterygium syndrome; pps irf6 翼状胬肉综合征；PPS IRF6
198 propionic acidemia pcca 丙酸血症PCCA
199 propionic acidemia pccb 丙酸血症PCCB
200 pyridoxamine 5-prime-phosphate oxidase deficiency pnpo 吡哆胺5'磷酸化氧化酶缺乏  PNPO
201 retinitis pigmentosa rho 视网膜色素变性Rho
202 retinitis pigmentosa 3 (rp3) rpgr 视网膜色素变性3（RP3）RPGR
203 retinoblastoma rb1 视网膜母细胞瘤Rb1
205 rett syndrome (rtt) mecp2 雷特综合征（RTT）mecp2
206 rhesus blood group, ccee antigens rhce Rh血型抗原，CCEE抗原  RHCE
207 rhesus blood group, d antigen rhd Rh血型，Rh D抗原
208 sandhoff disease hexb 山德霍夫氏病HEXB
209 sickle cell anemia (hbc; hbs) hbb 镰状细胞性贫血（HBC；HBS）HBB
210 smith-lemli-opitz syndrome (slos) dhcr7 史密斯Lemli Opitz综合征（SLO）dhcr7
211 sotos syndrome nsd1 索托斯综合征的NSD1
212 spinal and bulbar muscular atrophy (kennedy disease) ar 脊髓延髓肌萎缩症（甘乃迪病）AR
213 spinal muscular atrophy, type i (sma1) smn1 脊髓性肌萎缩症，I型（SMN1 SMA1）
214 spinocerebellar ataxia 1 (sca1) atxn1 脊髓小脑共济失调1型（SCA1）ATXN1
215 spinocerebellar ataxia 2 (sca2) atx2 脊髓小脑共济失调2型（SCA2）atx2
216 spinocerebellar ataxia 6 (sca6) cacna1a 脊髓小脑共济失调6型（SCA6）CACNA1A
217 spinocerebellar ataxia 7 (sca7) sca7 脊髓小脑共济失调7型（SCA7）SCA7
218 stickler syndrome, type i (stl1) col2a1 斯蒂克勒综合征，I型胶原（STL1）
219 stickler syndrome, type ii (stl2) col11a1 斯蒂克勒综合征，II型（STL2）COL11A1
220 succinic semialdehyde dehydrogenase deficiency aldh5a1 琥珀酸半醛脱氢酶缺乏aldh5a1
221 surfactant metabolism dysfunction, pulmonary, 3 (smdp3) abca3 表面活性剂的代谢紊乱，肺型，3（ABCA3 smdp3）
222 symphalangism, proximal (sym1) nog 指关节粘连，近端（SYM1）nog
223 tay-sachs disease (tsd) hexa 泰-萨克斯病（TSD）六
224 thrombotic thrombocytopenic purpura, congenital (ttp) adamts13 血栓性血小板减少性紫癜（TTP），先天性ADAMTS13
225 torsion dystonia 1, autosomal dominant (dyt1) tor1a 扭转性肌张力障碍1，常染色体显性遗传（DYT1）TOR1A
226 treacher collins-franceschetti syndrome tcof 特-弗二氏综合征 tcof
227 tuberous sclerosis type 1 tsc1 结节性硬化症1型TSC1
228 tuberous sclerosis type 2 tsc2 结节性硬化症2型TSC2
229 tyrosinemia, type i fah 酪氨酸血症I型，Fah
230 ulnar-mammary syndrome (ums) tbx3 尺乳腺综合症（UMS）Tbx3
231 von hippel-lindau syndrome vhl VHL VHL综合征
232 wiskott-aldrich syndrome was Wiskott-Aldrich综合征
233 wolman disease lipa 沃尔曼病油脂
234 zellweger syndrome (zs) pex1 齐薇格综合征（ZS）PEX1
235 zellweger syndrome (zs) pxmp3 齐薇格综合征（ZS）pxmp3