產品: Meddx_301GeDNA

MedDx 500+遺傳病基因測試 (單人)

建議給

  • 適用於18歲或以上男士或女士

  • 婚前檢查、計劃生育、有家族性遺傳病歷史

  • 準備進行人工輔助生殖

 

重點檢查項目:

  • 女性會進行569種測試,男性會進行534種測試

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  • 需12毫升血液
  • 測試569種遺傳病基因
  • 美國化驗
  • 報告需時約3至4星期
  • 測試由美國基因INVITAE上市公司供應
  • 女性會進行569種測試,男性會進行534種測試

 

世界上有20%的主要健康問題與遺傳有關!
大部分經遺傳而發病的病患,也是嚴重的疾病!

 

子女若能遺傳到父母的優良基因,固然值得欣喜,但如果父母帶有遺傳隱性疾病基因而不知,有可能會遺傳給下一代。與唐氏綜合症的機率相比,遺傳隱性疾病的發病更高,香港最常見的遺傳隱性疾病是地中海貧血症、耳聾、脆性X綜合症、脊髓性肌肉萎縮症。基因檢測技術普及,只需抽血,便可檢測500+種遺傳隱性疾病基因,令下一代的健康有更多保障。

 

如果呈陽性測試,將提供香港婦產專科醫生諮詢服務!

 


 

香港最常見的遺傳隱性疾病

 

蠶豆症(G6PD
相對普遍的香港遺傳病,新生兒每1000 男嬰就有50 人患蠶豆症,而每1,000 女嬰便有4人患有此遺傳病。如能一早驗出胎兒遺傳蠶豆症,可提早計劃未來。

 

甲型及乙型地中海貧血
香港約有12%父母攜帶地貧基因,情況嚴重者胎兒會無法存活,而這類母親到懷孕後期,高血壓及大量出血風險亦會提升。如能一早驗出胎兒遺傳地貧,可提早計劃未來。而乙型地貧患者出生後亦需終生輸血,有些父母之前或會選擇停止懷孕

 

脆性X綜合症(Fragile X Syndrome)
智力發展遲緩和自閉症

 

耳聾( GJB2)
新生嬰兒出生缺陷最常見的原因之一,研究統計約每五百個新生嬰兒就有一個患有聽力障礙

 

脊髓性肌肉萎縮症
運動神經元退化,引致肌肉萎縮、無力,最終引致死亡

 

囊性纖維變性
影響肺部及胰臟,患者需接受長期治療或肺移植

 

龐貝氏症
患者體內無法分解肝醣,故會引致肌肉無力,心臟發大等,初生嬰兒患此病,一般活不過1至2歲

 

17-beta hydroxysteroid dehydrogenase 3 deficiency (HSD17B3) 17-β羥基固醇脫氫酶3缺乏症(HSD17B3)
2-methyl-3-hydroxybutyric aciduria (HSD17B10) 2-甲基-3-羥基丁香酸(HSD17B10)
3-hydroxy-3-methylglutarayl-CoA lyase deficiency (HMGCL) 3-羥基-3-甲基氯丁烷-COA裂解酶缺乏症(HMGCL)
ABCA3-related conditions (ABCA3) 與ABCA3相關條件(ABCA3)
ABCA4-related conditions (ABCA4) 與ABCA4相關的條件(ABCA4)
ABCB11-related conditions (ABCB11) 與ABCB11相關的條件(ABCB11)
ABCC8-related conditions (ABCC8) 與ABCC8相關的條件(ABCC8)
Abetalipoproteinemia (MTTP) 血清β脂蛋白缺乏症(MTTP)
Achromatopsia (CNGB3) 色盲(CNGB3)
Acrodermatitis enteropathica (SLC39A4) 腸病性肢端皮膚炎(SLC39A4)
Adenosine deaminase deficiency (ADA) 腺苷脫氨酶缺乏症(ADA)
ADGRV1-related conditions (ADGRV1) ADGRV1相關條件(ADGRV1)
Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6) 周邊神經病變胼胝體發育不全症(SLC12A6)
AHI1-related conditions (AHI1) 與AHI1相關的條件(AHI1)
Aicardi-Goutieres syndrome 2 (RNASEH2B) Aicardi-Goutieres綜合徵2(RNASEH2B)
Aicardi-Goutieres syndrome 3 (RNASEH2C) Aicardi-Goutieres綜合徵3(RNASEH2C)
Aicardi-Goutieres syndrome 4 (RNASEH2A) Aicardi-Goutieres綜合徵4(RNASEH2A)
Aicardi-Goutieres syndrome 5 (SAMHD1) Aicardi-Goutieres綜合徵5(SAMHD1)
AIPL1-related conditions (AIPL1) AIPL1相關條件(AIPL1)
Aldosterone synthase deficiency (CYP11B2) 醛固酮合酶缺乏症(CYP11B2)
ALG13-related conditions (ALG13) ALG13相關條件(ALG13)
Alpha-mannosidosis (MAN2B1) α-甘露糖苷病(MAN2B1)
Alpha-N-acetylgalactosaminidase deficiency (NAGA) α-N-乙酰乳糖胺酶缺乏症(NAGA)
Alpha-thalassemia (HBA1/HBA2) 甲型地中海貧血(HBA1/HBA2)
Alpha-thalassemia X-linked intellectual disability syndrome (ARTX) 甲型地中海貧血- 智能發展遲緩綜合症(ARTX)
Alport syndrome (COL4A3) ALPORT綜合徵(COL4A3)
Alport syndrome (COL4A4) ALPORT綜合徵(COL4A4)
Alport syndrome (COL4A5) ALPORT綜合徵(COL4A5)
Alström syndrome (ALMS1) Alström綜合徵(ALMS1)
Androgen insensitivity syndrome (AR) 雄性激素失敏症候群(AR)
Arginase deficiency (ARG1) 精氨酸酶缺乏症(ARG1)
Arginine:glycine amidinotransferase deficiency (GATM) 精氨酸:甘氨酸酰胺轉移酶缺乏症(GATM)
Argininosuccinate lyase deficiency (ASL) 精氨酸酶酸裂解酶缺乏症(ASL)
ARL6-related conditions (ARL6) ARL6相關條件(ARL6)
Aromatase deficiency (CYP19A1) 芳香酶缺乏症(CYP19A1)
ARX-related conditions (ARX) 與ARX相關條件(ARX)
Asparagine synthetase deficiency (ASNS) 天冬酰胺合成酶缺乏症(ASN)
Aspartylglucosaminuria (AGA) 天冬氨酸果糖(AGA)
Ataxia with vitamin E deficiency (TTPA) 伴有維生素E缺乏症的共濟失調(TTPA)
Ataxia-telangiectasia-like disorder (MRE11) 共濟失調微血管擴張症候群(MRE11)
ATM-related cancers (ATM) 與ATM相關的癌症(ATM)
ATP7A-related conditions (ATP7A) 與ATP7A相關的條件(ATP7A)
ATP8B1-related conditions (ATP8B1) 與ATP8B1相關的條件(ATP8B1)
Atransferrinemia (TF) 阿特弗林血症(TF)
Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia (AIRE) 自身免疫性多內分泌病與念珠菌病和外胚層發育不良(AIRE)
Autosomal recessive congenital ichthyosis (ABCA12) 常染色體隱性先天性魚質病(ABCA12)
Autosomal recessive congenital ichthyosis (TGM1) 常染色體隱性先天性魚質病(TGM1)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (SACS) Charlevoix-Saguenay(SACS)的常染色體隱性痙攣性共濟失調
AVPR2-related conditions (AVPR2) AVPR2相關條件(AVPR2)
Bardet-Biedl syndrome (BBS10) Bardet-Biedl綜合徵(BBS10)
Bardet-Biedl syndrome (BBS12) Bardet-Biedl綜合徵(BBS12)
Bardet-Biedl syndrome (BBS7) Bardet-Biedl綜合徵(BBS7)
Bardet-Biedl syndrome (BBS9) Bardet-Biedl綜合徵(BBS9)
Barth syndrome (TAZ) 巴特綜合徵(TAZ)
Bartter syndrome type 1 (SLC12A1) Bartter綜合徵1型(SLC12A1)
Bartter syndrome type 2 (KCNJ1) Bartter綜合徵2型(KCNJ1)
BBS1-related conditions (BBS1) BBS1相關條件(BBS1)
BBS2-related conditions (BBS2) BBS2相關條件(BBS2)
BBS4-related conditions (BBS4) BBS4相關條件(BBS4)
BBS5-related conditions (BBS5) BBS5相關條件(BBS5)
BCS1L-related conditions (BCS1L) BCS1L相關條件(BCS1L)
Beta-ketothiolase deficiency (ACAT1) β-酮硫醇酶缺乏症(ACAT1)
Beta-mannosidosis (MANBA) β-甘露病(MANBA)
Biopterin-deficient hyperphenylalaninemia (PCBD1) 生物肽缺陷型高苯丙氨酸血症(PCBD1)
Biopterin-deficient hyperphenylalaninemia (PTS) 生物肽缺陷型高苯丙氨酸血症(PTS)
Biopterin-deficient hyperphenylalaninemia (QDPR) 生物肽缺陷型高苯丙氨酸血症(QDPR)
Biotin-responsive basal ganglia disease (SLC19A3) 生物素反應性基底神經節病(SLC19A3)
Bloom syndrome (BLM) 布盧姆綜合症(BLM)
BRIP1-related conditions (BRIP1) BRIP1相關條件(BRIP1)
Brittle cornea syndrome (PRDM5) 脆性角膜綜合徵(PRDM5)
Brittle cornea syndrome (ZNF469) 脆性角膜綜合徵(ZNF469)
BSND-related conditions (BSND) BSND相關條件(BSND)
Canavan disease (ASPA) Canavan-家族性軸突海綿退化症(ASPA)
Carbamoyl phosphate synthetase I deficiency (CPS1) 卡馬酰磷酸合成酶I缺乏症(CPS1)
Cardioencephalomyopathy (SCO2) 致死性细胞色素C氧化酶缺乏性心臟病(SCO2)
Carnitine palmitoyltransferase I deficiency (CPT1A) 肉鹼棕櫚酰轉移酶I缺乏症(CPT1A)
Carnitine palmitoyltransferase II deficiency (CPT2) 肉鹼棕櫚酰轉移酶II缺乏症(CPT2)
Carnitine-acylcarnitine translocase deficiency (SLC25A20) 肉鹼 - 酰基脫磷脂易位酶缺乏症(SLC25A20)
Carpenter syndrome (RAB23) 努南氏綜合症(RAB23)
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders (RMRP) 軟骨性發育不全 - 動脈粥樣異常譜系障礙(RMRP)
Catecholaminergic polymorphic ventricular tachycardia (CASQ2) 兒茶酚胺能多態性心臟心動過速(CASQ2)
CC2D2A-related conditions (CC2D2A) CC2D2A相關條件(CC2D2A)
CDH23-related conditions (CDH23) CDH23相關條件(CDH23)
CEP290-related conditions (CEP290) CEP290相關條件(CEP290)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (VLDLR) 小腦共濟失調,智力障礙和Dysequilibrium綜合徵1(VLDLR)
Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (SNAP29) 腦發育不全,神經病,魚質病和角膜疾病(SNAP29)
Cerebrotendinous xanthomatosis (CYP27A1) 大腦黃瘤病(CYP27A1)
CERKL-related conditions (CERKL) CERKL相關條件(CERKL)
CFTR-related conditions (CFTR) CFTR相關條件(CFTR)
Charcot-Marie-Tooth disease type 1X (GJB1) charcot-marie-tooth疾病1型(GJB1)
Charcot-Marie-Tooth disease type 4D (NDRG1) Charcot-Marie-Tooth疾病型4D(NDRG1)
Chediak-Higashi syndrome (LYST) Chediak-Higashi綜合徵(LYST)
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (MECR) 兒童期性肌張力障礙伴有視神經萎縮和基底神經節異常(MECR)
Chorea-acanthocytosis (VPS13A) 絨毛膜 - 肉毒細胞增多症(VPS13A)
Choroideremia (CHM) 脈絡膜缺失症(CHM)
Chronic granulomatous disease (CYBA) 慢性肉芽腫性疾病(CYBA)
Chronic granulomatous disease (CYBB) 慢性肉芽腫性疾病(CYBB)
Chronic granulomatous disease (NCF2) 慢性肉芽腫性疾病(NCF2)
Citrin deficiency (SLC25A13) Citrin缺乏症(SLC25A13)
Citrullinemia type 1 (ASS1) 瓜氨酸血症1(ASS1)
CLN3-related conditions (CLN3) 與CLN3相關的條件(CLN3)
CLRN1-related conditions (CLRN1) CLRN1相關條件(CLRN1)
Cobalamin C deficiency (MMACHC) 鈷胺C缺乏症(MMACHC)
Cobalamin D deficiency (MMADHC) 鈷胺D缺乏症(MMADHC)
Cobalamin F deficiency (LMBRD1) 鈷胺F缺乏症(LMBRD1)
Cobalamin X deficiency (HCFC1) 鈷胺X缺乏症(HCFC1)
Cockayne syndrome A (ERCC8) Cockayne綜合徵A(ERCC8)
Cockayne syndrome B (ERCC6) Cockayne綜合徵B(ERCC6)
Cohen syndrome (VPS13B) 科恩綜合徵(VPS13B)
COL11A2-related conditions (COL11A2) COL11A2相關條件(COL11A2)
COL17A1-related conditions (COL17A1) COL17A1相關條件(COL17A1)
Combined immunodeficiency due to IKBKB deficiency (IKBKB) 由於IKBKB缺乏症(IKBKB),合併免疫缺陷
Combined malonic and methylmalonic aciduria (ACSF3) 混合的丙二醛和甲基丙二酰酸尿(ACSF3)
Combined oxidative phosphorylation deficiency 1 (GFM1) 聯合氧化磷酸化缺乏1(GFM1)
Combined oxidative phosphorylation deficiency 3 (TSFM) 聯合氧化磷酸化缺乏3(TSFM)
Combined pituitary hormone deficiency (LHX3) 垂體激素缺乏症(LHX3)
Combined pituitary hormone deficiency (POU1F1) 垂體激素缺乏症(POU1F1)
Combined pituitary hormone deficiency (PROP1) 垂體激素缺乏症(Prop1)
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2) 由於21-羥化酶缺乏引起的先天性腎上腺增生(CYP21A2)
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (HSD3B2) 先天性腎上腺增生,這是由於3β-羥基甾體脫氫酶缺乏症(HSD3B2)引起的
Congenital adrenal insufficiency (CYP11A1) 先天性腎上腺功能不全(CYP11A1)
Congenital amegakaryocytic thrombocytopenia (MPL) 先天性amegakaryopytic血小板減少症(MPL)
Congenital chronic diarrhea (DGAT1) 先天性慢性腹瀉(DGAT1)
Congenital disorder of glycosylation (SLC35A3) 先天性醣基化障礙(SLC35A3)
Congenital disorder of glycosylation type Ia (PMM2) 先天性醣基化障礙IA型(PMM2)
Congenital disorder of glycosylation type Ib (MPI) 先天性醣基化障礙IB型(MPI)
Congenital disorder of glycosylation type Ic (ALG6) 先天性醣基化障礙IC型(ALG6)
Congenital disorder of glycosylation type Ik (ALG1) 先天性醣基化障礙IK型(ALG1)
Congenital disorder of glycosylation type Iv (NGLY1) 先天性醣基化障礙IV型(NGLY1)
Congenital dyserythropoietic anemia type II (SEC23B) 先天性紅細胞生成異常性貧血II型(SEC23B)
Congenital hydrocephalus-1 (CCDC88C) 先天性腦積水1(CCDC88C)
Congenital hypothyroidism (TSHB) 先天性甲狀腺功能減退症(TSHB)
Congenital insensitivity to pain with anhidrosis (NTRK1) 先天性不敏感性的肌肉症(NTRK1)
Congenital myasthenic syndrome (CHAT) 先天性肌關係綜合徵(聊天)
Congenital myasthenic syndrome (CHRNE) 先天性肌關係綜合徵(CHRNE)
Congenital nephrotic syndrome type 1 (NPHS1) 先天性腎病綜合徵1型(NPHS1)
Congenital nephrotic syndrome type 2 (NPHS2) 先天性腎病綜合徵2型(NPHS2)
Congenital secretory chloride diarrhea (SLC26A3) 先天性分泌性氯化腹瀉(SLC26A3)
Corneal dystrophy and perceptive deafness (SLC4A11) 角膜營養不良和感知性耳聾(SLC4A11)
CRB1-related conditions (CRB1) 與CRB1相關的條件(CRB1)
CTSC-related conditions (CTSC) CTSC相關條件(CTSC)
CYP17A1-related conditions (CYP17A1) CYP17A1相關條件(CYP17A1)
CYP1B1-related conditions (CYP1B1) CYP1B1相關條件(CYP1B1)
CYP7B1-related conditions (CYP7B1) CYP7B1相關條件(CYP7B1)
Cystinosis (CTNS) 胱胺酸症(CTN)
Cytochrome P450 oxidoreductase deficiency (POR) 細胞色素P450氧化還原酶缺乏症(POR)
Desbuquois dysplasia type 1 (CANT1) Desbuquois發育不良1型(CANT1)
Developmental and epileptic encephalopathy (CAD) 發育和癲癇性腦病(CAD)
DGUOK-related conditions (DGUOK) DGUOK相關條件(DGUOK)
DHDDS-related conditions (DHDDS) DHDDS相關條件(DHDDS)
Dihydrolipoamide dehydrogenase deficiency (DLD) 二氫丙酰胺脫氫酶缺乏症(DLD)
Distal renal tubular acidosis with deafness (ATP6V1B1) 腎遠端腎小管酸中毒,耳聾(ATP6V1B1)
DMD-related conditions (DMD) DMD相關條件(DMD)
DOK7-related conditions (DOK7) DOK7相關條件(DOK7)
Donnai-Barrow syndrome (LRP2) Donnai-Barrow綜合徵(LRP2)
Dubin-Johnson syndrome (ABCC2) 杜賓 - 約翰遜綜合症(ABCC2)
DUOX2-related conditions (DUOX2) DUOX2相關條件(DUOX2)
DYNC2H1-related conditions (DYNC2H1) DYNC2H1相關條件(DYNC2H1)
DYSF-related conditions (DYSF) 與DYSF相關條件(DYSF)
Dyskeratosis congenita spectrum disorders (DKC1) 先天性角化不良疾病(DKC1)
Dyskeratosis congenita spectrum disorders (RTEL1) 先天性角化不良疾病(RTEL1)
Dyskeratosis congenita spectrum disorders (TERT) 先天性角化不良疾病(TERT)
Dystrophic epidermolysis bullosa (COL7A1) 營養不良的表皮溶液Bullosa(COL7A1)
EDA-related conditions (EDA) EDA相關條件(EDA)
Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2) ehlers-danlos綜合徵,皮膚上的類型(ADAMTS2)
Ehlers-Danlos syndrome, kyphoscoliotic type (PLOD1) Ehlers-Danlos綜合徵,Kyphoscoliotic類型(PLOD1)
Ellis-van Creveld syndrome (EVC) Ellis-Van Creveld綜合徵(EVC)
Emery-Dreifuss muscular dystrophy (EMD) Emery-Dreifuss肌肉營養不良(EMD)
Epimerase deficiency galactosemia (GALE) 半乳糖血症 (GALE)
ERCC2-related conditions (ERCC2) ERCC2相關條件(ERCC2)
Ethylmalonic encephalopathy (ETHE1) 暴發性腦病(ETHE1)
EVC2-related conditions (EVC2) EVC2相關條件(EVC2)
Fabry disease (GLA) 法布瑞氏症(GLA)
Factor IX deficiency (hemophilia B) (F9) 血友病B - 缺乏第9凝血因子症(hemophilia B)(F9)
Familial chylomicronemia syndrome (LPL) 家族性高乳糜微粒血症(LPL)
Familial dysautonomia (ELP1) 家族性自律神經失調症候群(ELP1)
Familial hemophagocytic lymphohistiocytosis type 2 (PRF1) 家族性噬血性淋巴組織球增生症2型(PRF1)
Familial hemophagocytic lymphohistiocytosis type 3 (UNC13D) 家族性噬血性淋巴組織球增生症3型(UNC13D)
Familial hemophagocytic lymphohistiocytosis type 4 (STX11) 家族性噬血性淋巴組織球增生症4型(STX11)
Familial hemophagocytic lymphohistiocytosis type 5 (STXBP2) 家族性噬血性淋巴組織球增生症5型(STXBP2)
Familial hyperaldosteronism type I (CYP11B1) 家族性高醛型I型(CYP11B1)
Familial hypercholesterolemia (LDLR) 家族性高膽固醇血症(LDLR)
Familial hypercholesterolemia (LDLRAP1) 家族性高膽固醇血症(LDLRAP1)
Fanconi anemia type A (FANCA) Fanconi貧血A型(Fanca)
Fanconi anemia type B (FANCB) Fanconi貧血B型(FANCB)
Fanconi anemia type C (FANCC) Fanconi貧血C型(FANCC)
Fanconi anemia type D2 (FANCD2) Fanconi貧血D2(FANCD2)
Fanconi anemia type E (FANCE) Fanconi貧血E型(Fance)
Fanconi anemia type G (FANCG) Fanconi貧血G(Fancg)
Fanconi anemia type I (FANCI) Fanconi貧血I型(Fanci)
Fanconi anemia type L (FANCL) Fanconi貧血型L(FANCL)
FHL1-related conditions (FHL1) 與FHL1相關的條件(FHL1)
FKBP10-related conditions (FKBP10) FKBP10相關條件(FKBP10)
FMR1-related conditions including fragile X syndrome (FMR1) FMR1相關的條件-包括脆性X綜合症(FMR1)
Foveal hypoplasia (SLC38A8) 視網膜中央發育不全症(SLC38A8)
Fraser syndrome (FRAS1) 弗雷澤綜合徵(FRAS1)
Fraser syndrome (FREM2) 弗雷澤綜合徵(FREM2)
Fraser syndrome (GRIP1) 弗雷澤綜合徵(GRIP1)
Fructose-1,6-bisphosphatase deficiency (FBP1) 果糖1,6-雙磷酸酶缺乏症(FBP1)
Fucosidosis (FUCA1) 岩藻糖代謝異常(Fuca1)
Galactokinase deficiency galactosemia (GALK1) 半乳糖激酶缺乏性半乳糖血症(Galk1)
Galactosemia (GALT) 半乳糖血症(Galt)
Galactosialidosis (CTSA) 半乳糖唾液酸貯積症(CTSA)
GBA-related conditions (GBA) 與GBA相關條件(GBA)
GBE1-related conditions (GBE1) 與GBE1相關的條件(GBE1)
GCH1-related conditions (GCH1) 與GCH1相關的條件(GCH1)
GDF5-related conditions (GDF5) GDF5相關條件(GDF5)
Geme oxygenase 1 deficiency (HMOX1) GEME氧化酶1缺乏症(HMOX1)
Gemolytic anemia, CD59-mediated (CD59) 溶血性貧血,CD59-mediated(CD59)
Gereditary hemochromatosis type 2 (HAMP) 遺傳性鐵沉積症2型(HAMP)
Gereditary hemochromatosis type 2 (HJV) 遺傳性鐵沉積症2型(HJV)
Gereditary hemochromatosis type 3 (TFR2) 遺傳性鐵沉積症3型(TFR2)
Gereditary leiomyomatosis and renal cell cancer (FH) 遺傳性平滑肌瘤病和腎細胞癌(FH)
Geroderma osteodysplastica (GORAB) 黑皮病骨質發育不良(Gorab)
GHR-related conditions (GHR) 與GHR相關的條件(GHR)
Gitelman syndrome (SLC12A3) 吉特曼氏綜合症(SLC12A3)
GJB2-related conditions (GJB2) GJB2相關條件(GJB2)
GLB1-related conditions (GLB1) 與GLB1相關的條件(GLB1)
GLE1-related conditions (GLE1) GLE1相關條件(GLE1)
Glutaric acidemia type I (GCDH) 戊二酸血症第一型(GCDH)
Glutaric acidemia type IIA (ETFA) 戊二酸血症第IIA型(ETFA)
Glutaric acidemia type IIB (ETFB) 戊二酸血症第IIB型(ETFB)
Glutaric acidemia type IIC (ETFDH) 戊二酸血症第IIc型(ETFDH)
Glutathione synthetase deficiency (GSS) 穀胱甘肽合成酶缺乏症(GSS)
Glycine encephalopathy (AMT) 甘氨酸腦病(AMT)
Glycine encephalopathy (GLDC) 甘氨酸腦病(GLDC)
Glycogen storage disease type Ia (G6PC) 糖原儲存疾病IA型(G6PC)
Glycogen storage disease type II (Pompe disease) (GAA) 糖原儲存疾病II型(龐貝疾病)(GAA)
Glycogen storage disease type III (AGL) 糖原儲存疾病III型(AGL)
Glycogen storage disease type IXb (PHKB) 糖原儲存疾病IXB型(PHKB)
Glycogen storage disease type IXc (PHKG2) 糖原儲存疾病IXC型(PHKG2)
Glycogen storage disease type V (PYGM) 糖原儲存疾病V型(PYGM)
Glycogen storage disease type VII (PFKM) 糖原儲存疾病型VII(PFKM)
GM3 synthase deficiency (ST3GAL5) GM3合酶缺乏症(ST3GAL5)
GNE-related conditions (GNE) 與GNE相關的條件(GNE)
GNPTAB-related conditions (GNPTAB) GNPTAB相關條件(GNPTAB)
Golocarboxylase synthetase deficiency (HLCS) 糖羧化酶合成酶缺乏症(HLCS)
Guanidinoacetate methyltransferase deficiency (GAMT) 胍基乙酸鹽甲基轉移酶缺乏症(GAMT)
GUCY2D-related conditions (GUCY2D) GUCY2D相關條件(GUCY2D)
Gyrate atrophy of the choroid and retina (OAT) 迴旋狀脈絡膜視網膜萎縮(OAT)
HADHA-related conditions (HADHA) HADHA相關條件 (HADHA)
HBB-related hemoglobinopathies (HBB) 與HBB相關的血紅蛋白病(HBB)
Hereditary fructose intolerance (ALDOB) 遺傳性果糖不耐受(ALDOB)
Hermansky-Pudlak syndrome type 1 (HPS1) Hermansky-Pudlak綜合徵1型(HPS1)
Hermansky-Pudlak syndrome type 3 (HPS3) Hermansky-Pudlak綜合徵3(HPS3)
Hermansky-Pudlak syndrome type 4 (HPS4) Hermansky-Pudlak綜合徵4型(HPS4)
Hermansky-Pudlak syndrome type 5 (HPS5) Hermansky-Pudlak綜合徵5型(HPS5)
Hermansky-Pudlak syndrome type 6 (HPS6) Hermansky-Pudlak綜合徵6型(HPS6)
Hermansky-Pudlak syndrome type 8 (BLOC1S3) Hermansky-Pudlak綜合徵8型(BLOC1S3)
Hermansky-Pudlak syndrome type 9 (BLOC1S6) Hermansky-Pudlak綜合徵9型(BLOC1S6)
HGSNAT-related conditions (HGSNAT) HGSNAT相關條件(HGSNAT)
Homocystinuria due to cobalamin E deficiency (MTRR) 由於cobalamin E缺乏症引起的高胱胺酸尿症(MTRR)
Homocystinuria due to cobalamin G deficiency (MTR) 由於cobalaminG缺乏症引起的高胱胺酸尿症(MTR)
Homocystinuria due to cystathionine beta-synthase deficiency (CBS) 由於胱澱粉β-合酶功能不足引起的高胱胺酸尿症(CBS)
Homocystinuria due to MTHFR deficiency (MTHFR) 由於MTHFR缺乏症引起的高胱胺酸尿症(MTHFR)
HPRT1-related conditions (HPRT1) HPRT1相關條件(HPRT1)
HSD17B4-related conditions (HSD17B4) HSD17B4相關條件(HSD17B4)
Hydrolethalus syndrome type 1 (HYLS1) Hydolethalus綜合徵1型(HYLS1)
Hyper-IgM immunodeficiency (CD40) 高免疫球蛋白M症候群(CD40)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (SLC25A15) 高異位血症 - 雜氨菌血症 - 蘇核酸胞尿症綜合徵(SLC25A15)
Hyperphosphatemic familial tumoral calcinosis (GALNT3) 高血磷家族性腫瘤樣鈣質沉著症(GALNT3)
Hypomyelinating leukodystrophy-12 (VPS11) 低髓鞘腦白質失養症12(VPS11)
Hypophosphatasia (ALPL) 低磷酸酯酶症(ALPL)
Ichthyosis prematurity syndrome (SLC27A4) 魚鱗病早產綜合徵(SLC27A4)
IGHMBP2-related conditions (IGHMBP2) IGHMBP2相關條件(IGHMBP2)
Imerslund-Gräsbeck syndrome (AMN) Imerslund-Gräsbeck綜合徵(AMN)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B) 免疫缺陷、著絲粒不穩定、面部異常綜合症1(DNMT3B)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24) 免疫缺陷、著絲粒不穩定、面部異常綜合症2(ZBTB24)
Isolated ectopia lentis (ADAMTSL4) 單純性晶狀體異位(ADAMTSL4)
Isovaleric acidemia (IVD) 異戊酸血症(IVD)
ITGB3-related conditions (ITGB3) ITGB3相關條件(ITGB3)
Johanson-Blizzard syndrome (UBR1) 約翰遜大暴動綜合徵(UBR1)
Joubert syndrome and related disorders (MKS1) 喬伯特綜合徵和相關疾病(MKS1)
Joubert syndrome and related disorders (RPGRIP1L) 喬伯特綜合徵和相關疾病(RPGRIP1L)
Joubert syndrome and related disorders (TMEM216) 喬伯特綜合徵和相關疾病(TMEM216)
Junctional epidermolysis bullosa (LAMC2) 接合型表皮分解性水泡症(LAMC2)
Junctional epidermolysis bullosa with pyloric atresia (ITGA6) 接合型表皮分解性水泡症伴有幽門狹窄(ITGA6)
Junctional epidermolysis bullosa with pyloric atresia (ITGB4) 接合型表皮分解性水泡症伴有幽門狹窄(ITGB4)
KCNJ11-related conditions (KCNJ11) KCNJ11相關條件(KCNJ11)
Krabbe disease (GALC) 球細胞腦白質失養症(GALC)
L1 syndrome (L1CAM) L1綜合徵(L1CAM)
LAMA2-related muscular dystrophy (LAMA2) LAMA2相關的肌肉營養不良症(LAMA2)
LAMA3-related conditions (LAMA3) LAMA3相關條件(LAMA3)
LAMB3-related conditions (LAMB3) LAMB3相關條件(LAMB3)
Leber congenital amaurosis 5 (LCA5) 萊伯氏先天性黑朦症 5(LCA5)
Leukoencephalopathy with vanishing white matter (EIF2B1) 腦白質病伴有白細胞病變(EIF2B1)
Leukoencephalopathy with vanishing white matter (EIF2B2) 腦白質病伴有白細胞病變(EIF2B2)
Leukoencephalopathy with vanishing white matter (EIF2B3) 腦白質病伴有白細胞病變(EIF2B3)
Leukoencephalopathy with vanishing white matter (EIF2B4) 腦白質病伴有白細胞病變(EIF2B4)
Leukoencephalopathy with vanishing white matter (EIF2B5) 腦白質病伴有白細胞病變(EIF2B5)
LIG4 syndrome (LIG4) LIG4綜合症(LIG4)
Limb-girdle muscular dystrophy (CAPN3) 肢體束肌營養不良症(CAPN3)
Limb-girdle muscular dystrophy type 2 (SGCD) 肢體束肌營養不良症2型(SGCD)
Limb-girdle muscular dystrophy type 2C (SGCG) 肢體束肌營養不良症2C(SGCG)
Limb-girdle muscular dystrophy type 2D (SGCA) 肢體束肌營養不良症2D(SGCA)
Limb-girdle muscular dystrophy type 2E (SGCB) 肢體束肌營養不良症2E(SGCB)
Lipoid congenital adrenal hyperplasia (STAR) 先天性類脂腎上腺增生(Star)
LRAT-related conditions (LRAT) LRAT相關條件(LRAT)
Lysinuric protein intolerance (SLC7A7) 離氨酸尿蛋白不耐受症(SLC7A7)
Lysosomal acid lipase deficiency (LIPA( 溶酶體酸性脂肪酶缺乏症 (LIPA)
Major histocompatibility complex class II deficiency (CIITA) 主要的組織相容性複雜物2類缺乏症(CIITA)
Malonyl-CoA decarboxylase deficiency (MLYCD) malonyl-COA脫羧酶缺乏(MLYCD)
Maple syrup urine disease type 1A (BCKDHA) 楓糖漿尿液疾病類型1A(BCKDHA)
Maple syrup urine disease type 1B (BCKDHB) 楓糖漿尿液疾病類型1B(BCKDHB)
Maple syrup urine disease type 2 (DBT) 楓糖漿尿液疾病2(DBT)
MECP2-related conditions (MECP2) MECP2相關條件(MECP2)
Medium-chain acyl-CoA dehydrogenase deficiency (ACADM) 中鏈酰基-COA脫氫酶缺乏症(ACADM)
Medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH) 中/短鏈3-羥基酰基-COA脫氫酶缺乏症(HADH)
MEDNIK syndrome (AP1S1) Mednik綜合症(AP1S1)
Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1)  巨腦性腦白質病伴有皮層下囊腫(MLC1)
Metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (TANGO2) 橫紋肌溶解,心臟心律不齊和神經退行性(Tango2)的代謝危機(Tango2)
Metachromatic leukodystrophy (ARSA) 異染性腦白質退化症(ARSA)
Methylmalonic acidemia (MCEE) 甲基丙二酸酸血症(MCEE)
Methylmalonic acidemia (MMAA) 甲基丙二酸酸血症(MMAA)
Methylmalonic acidemia (MMAB) 甲基丙二酸酸血症(MMAB)
Methylmalonic acidemia (MUT) 甲基丙二酸酸血症(MUT)
MFSD8-related conditions (MFSD8) MFSD8相關條件(MFSD8)
Microcephalic osteodysplastic primordial dwarfism type II (PCNT) 原生侏儒症II型(PCNT)
Microcephaly, postnatal progressive, with seizures and brain atrophy (MED17) 小頭畸形,產後進行性,癲癇發作和腦萎縮(MED17)
Mitochondrial complex I deficiency 1 (NDUFS4) 線粒體複合物I缺乏症1(NDUFS4)
Mitochondrial complex I deficiency 10 (NDUFAF2) 線粒體複合物I缺乏症10(NDUFAF2)
Mitochondrial complex I deficiency 16 (NDUFAF5) 線粒體複合物I缺乏症16(NDUFAF5)
Mitochondrial complex I deficiency 19 (FOXRED1) 線粒體複合體I缺乏症19(FoxRed1)
Mitochondrial complex I deficiency 20/ACAD9 deficiency (ACAD9) 線粒體綜合體I缺乏症20/Acad9缺乏症(ACAD9)
Mitochondrial complex I deficiency 3 (NDUFS7) 線粒體複合物I缺乏症3(NDUFS7)
Mitochondrial complex I deficiency 4 (NDUFV1) 線粒體複合物I缺乏症4(NDUFV1)
Mitochondrial complex I deficiency 9 (NDUFS6) 線粒體複合物I缺乏症9(NDUFS6)
Mitochondrial complex IV deficiency / Leigh syndrome, French Canadian type (LRPPRC) 線粒體複合物IV缺乏症 / 亞急性壞死性腦脊髓病,法國加拿大類型(LRPPRC)
Mitochondrial complex IV deficiency 12 (PET100) 線粒體複合物IV缺乏症12(PET100)
Mitochondrial complex IV deficiency 6 (COX15) 線粒體複合物IV缺乏症6(COX15)
Mitochondrial DNA depletion syndrome-2 (TK2) 粒線體DNA缺乏症候群2(TK2)
Mitochondrial neurogastrointestinal encephalomyopathy (TYMP) 線粒體神經胃腸型腦肌病(TYMP)
Mitochondrial trifunctional protein deficiency (HADHB) 線粒體三功能蛋白缺乏(HADHB)
MKKS-related conditions (MKKS) MKKS相關條件(MKK)
Molybdenum cofactor deficiency (MOCS1) 鉬輔因子缺乏(MOCS1)
Molybdenum cofactor deficiency (MOCS2) 鉬輔因子缺乏(MOCS2)
MPV17-related conditions (MPV17) MPV17相關條件(MPV17)
Mucolipidosis type III gamma (GNPTG) 黏脂質症 III gamma型(GNPTG)
Mucolipidosis type IV (MCOLN1) 黏脂質症 IV型(MCOLN1)
Mucopolysaccharidosis type I (IDUA) I型黏多醣症(IDUA)
Mucopolysaccharidosis type II (IDS) II型黏多醣症(IDS)
Mucopolysaccharidosis type IIIA (SGSH) IIIA型黏多醣症(SGSH)
Mucopolysaccharidosis type IIIB (NAGLU) IIIB型黏多醣症(Naglu)
Mucopolysaccharidosis type IIID (GNS) IIID型黏多醣症(GNS)
Mucopolysaccharidosis type IVA (GALNS) IVA型黏多醣症(GALNS)
Mucopolysaccharidosis type IX (HYAL1) IX型黏多醣症(Hyal1)
Mucopolysaccharidosis type VI (ARSB) VI型黏多醣症(ARSB)
Mucopolysaccharidosis type VII (GUSB) VII型黏多醣症(GUSB)
Mulibrey nanism (TRIM37) 侏儒綜合症(TRIM37)
Multiple pterygium syndrome (CHRNG) 多發性翼狀膜症候群(CHRNG)
Multiple sulfatase deficiency (SUMF1) 多發性硫酸脂酶缺乏症(SUMF1)
Muscular dystrophy-dystroglycanopathy (FKRP) 肌肉失養症(FKRP)
Muscular dystrophy-dystroglycanopathy (FKTN) 肌肉失養症(FKTN)
Muscular dystrophy-dystroglycanopathy (LARGE1) 肌肉失養症(LARGE1)
Muscular dystrophy-dystroglycanopathy (POMT1) 肌肉失養症(POMT1)
Muscular dystrophy-dystroglycanopathy (POMT2) 肌肉失養症(POMT2)
Muscular dystrophy-dystroglycanopathy (RXYLT1) 肌肉失養症(RXYLT1)
MUSK-related conditions (MUSK) 與MUSK有關的條件(MUSK)
MVK-related conditions (MVK) MVK相關條件(MVK)
Myopathy, lactic acidosis, and sideroblastic anemia 1 (PUS1) 肌病,乳酸酸中毒和副細胞貧血1(PUS1)
Myotonia congenita (CLCN1) Myotonia Congenita(CLCN1)
N-acetylglutamate synthase deficiency (NAGS) N-乙酰谷氨酸合酶缺乏症(NAGS)
NBN-related cancers (NBN) NBN相關癌症(NBN)
Nemaline myopathy 2 (NEM) 線狀體肌肉病變2(NEM)
Nephrogenic diabetes insipidus (AQP2) 腎源性尿崩症(AQP2)
Nephronophthisis (INVS) 腎囊性病變(Invs)
Nephronophthisis (NPHP1) 腎囊性病變(NPHP1)
Neuronal ceroid lipofuscinosis type 1 (PPT1) 1型神經性蠟樣脂褐質沉著症(PPT1)
Neuronal ceroid lipofuscinosis type 10 (CTSD) 10型神經性蠟樣脂褐質沉著症(CTSD)
Neuronal ceroid lipofuscinosis type 2 (TPP1) 2型神經性蠟樣脂褐質沉著症(TPP1)
Neuronal ceroid lipofuscinosis type 5 (CLN5) 5型神經性蠟樣脂褐質沉著症(CLN5)
Neuronal ceroid lipofuscinosis type 6 (CLN6) 6型神經性蠟樣脂褐質沉著症(CLN6)
Neuronal ceroid lipofuscinosis type 8 (CLN8) 8型神經性蠟樣脂褐質沉著症(CLN8)
Niemann-Pick disease type C (NPC1) 尼曼匹克症C型(NPC1)
Niemann-Pick disease type C (NPC2) 尼曼匹克症C型(NPC2)
Niemann-Pick disease types A and B (SMPD1) 尼曼匹克症A和B(SMPD1)
Nonsyndromic deafness (LOXHD1) 非綜合性耳聾(LOXHD1)
Nonsyndromic deafness (MYO15A) 非綜合性耳聾(MyO15A)
Nonsyndromic deafness (MYO15A) 非綜合性耳聾(MyO15A)
Nonsyndromic deafness (OTOA) 非綜合性耳聾(OTOA)
Nonsyndromic deafness (SYNE4) 非綜合性耳聾(SYNE4)
Nonsyndromic deafness (TMC1) 非綜合性耳聾(TMC1)
Nonsyndromic deafness (TMPRSS3) 非綜合性耳聾(TMPRSS3)
Nonsyndromic intellectual disability (CC2D1A) 非智障智力障礙(CC2D1A)
NR0B1-related conditions (NR0B1) NR0B1相關條件(NR0B1)
NR2E3-related conditions (NR2E3) NR2E3相關條件(NR2E3)
NSMCE3 deficiency (NSMCE3) NSMCE3缺乏症(NSMCE3)
OCRL-related conditions (OCRL) OCRL相關條件(OCRL)
Oculocutaneous albinism type 2 OCA2) 眼皮白化症2型OCA2)
Oculocutaneous albinism type 3 (TYRP1) 眼形白化病3型(Tyrp1)
Oculocutaneous albinism type 4 (SLC45A2) 眼皮白化症4型(SLC45A2)
Oculocutaneous albinism types 1A and 1B (TYR) 眼皮白化症類型1a和1b(Tyr)
OPA3-related conditions (OPA3) OPA3相關條件(OPA3)
Opitz GBBB syndrome (MID1) OPITZ GBBB綜合徵(MID1)
Ornithine transcarbamylase deficiency (OTC) 鳥胺酸氨甲醯基轉移酶缺乏症(OTC)
Osteogenesis imperfecta (BMP1) 骨質形成不全(BMP1)
Osteogenesis imperfecta (CRTAP) 骨質形成不全(CRTAP)
Osteogenesis imperfecta (P3H1) 骨質形成不全(P3H1)
Osteopetrosis (TCIRG1) 骨質疏鬆症(TCIRG1)
OSTM1 deficiency associated osteopetrosis (OSTM1) 缺乏OSTM1相關的骨質疏鬆症(OSTM1)
OTOF-related conditions (OTOF) 與OTOF相關條件(OTOF)
Pantothenate kinase-associated neurodegeneration (PANK2) 泛酸鹽激酶關聯之神經退化性疾病(PANK2)
Parkinson disease 15 (FBXO7) 帕金森病15(FBXO7)
PCDH15-related conditions (PCDH15) PCDH15相關條件(PCDH15)
Peroxisomal acyl-CoA oxidase deficiency (ACOX1) 過氧化物酶體酰基輔酶A氧化酶缺乏症(ACOX1)
PEX5-related conditions (PEX5) PEX5相關條件(PEX5)
PEX7-related conditions (PEX7) PEX7相關條件(PEX7)
PGM3-congenital disorder of glycosylation (PGM3) PGM3糖基化糖基化疾病(PGM3)
Phenylalanine hydroxylase deficiency (PAH) 苯酮尿症(PAH)
Phosphoglycerate dehydrogenase deficiency (PHGDH) 磷酸甘油酸脫氫酶缺乏症(PHGDH)
PIGN-congenital disorder of glycosylation (PIGN) 糖基化(PIGN)的PIGN-元素疾病
PJVK-related conditions (DFNB59 aka PJVK) PJVK相關條件(DFNB59又名PJVK)
PLA2G6-related conditions (PLA2G6) PLA2G6相關條件(PLA2G6)
PLEKHG5-related conditions (PLEKHG5) PLEKHG5相關條件(Plekhg5)
PLP1-related conditions (PLP1) PLP1相關條件(PLP1)
POLG-related conditions (POLG) 與POLG有關的條件(POLG)
Polycystic kidney disease (PKHD1) 多囊腎臟疾病(PKHD1)
Polymicrogyria (ADGRG1) 多小腦迴畸型(ADGRG1)
POMGNT1-related conditions (POMGNT1) POMGNT1相關條件(POMGNT1)
Pontocerebellar hypoplasia (TSEN54) 橋腦小腦發育不全(TSEN54)
Pontocerebellar hypoplasia type 1B (EXOSC3) 橋腦小腦發育不全1B型(EXOSC3)
Pontocerebellar hypoplasia type 2D (SEPSECS) 橋腦小腦發育不全2D型(SEPSECS)
Pontocerebellar hypoplasia type 2E (VPS53) 橋腦小腦發育不全2E型(VPS53)
Pontocerebellar hypoplasia type 6 (RARS2) 橋腦小腦發育不全6型(RARS2)
Primary carnitine deficiency (SLC22A5) 原發性肉鹼缺乏症(SLC22A5)
Primary ciliary dyskinesia (CCDC103) 先天性纖毛運動異常症(CCDC103)
Primary ciliary dyskinesia (CCDC39) 先天性纖毛運動異常症(CCDC39)
Primary ciliary dyskinesia (DNAH11) 先天性纖毛運動異常症(DNAH11)
Primary ciliary dyskinesia (DNAH5) 先天性纖毛運動異常症(DNAH5)
Primary ciliary dyskinesia (DNAI1) 先天性纖毛運動異常症(DNAI1)
Primary ciliary dyskinesia (DNAI2) 先天性纖毛運動異常症(DNAI2)
Primary hyperoxaluria type 1 (AGXT) 原發型高草酸鹽尿症1型(AGXT)
Primary hyperoxaluria type 2 (GRHPR) 原發型高草酸鹽尿症2型(GRHPR)
Primary hyperoxaluria type 3 (HOGA1) 原發型高草酸鹽尿症3型(HOGA1)
Primary microcephaly (MCPH1) 小腦症(MCPH1)
Progressive early-onset encepahlopathy with brain atrophy and thin corpus callosum (PEBAT) (TBCD) 漸進性早期發作性腦病伴有腦萎縮和胼胝體萎縮(Pebat)(TBCD)
Progressive familial intrahepatic cholestasis 3 (ABCB4) 漸進性家族性肝內膽汁滯留症3(ABCB4)
Progressive pseudorheumatoid dysplasia (WISP3) 漸進式假性類風濕發育不良綜合徵(WISP3)
Prolidase deficiency (PEPD) 脯肽酶缺乏症(PEPD)
Propionic acidemia (PCCA) 丙酸酸血症(PCCA)
Propionic acidemia (PCCB) 丙酸酸血症(PCCB)
PRPS1-related conditions (PRPS1) PRPS1相關條件(PRPS1)
PSAP-related conditions (PSAP) PSAP相關條件(PSAP)
Pycnodysostosis (CTSK) 緻密成骨不全症(CTSK)
Pyridoxal 5′-phosphate-dependent epilepsy (PNPO) Pyridoxal 5-pyridoxine(維生素B6) 依賴性癲癇(PNPO)
Pyridoxine-dependent epilepsy (ALDH7A1) Pyridoxine(維生素B6) 依賴性癲癇(ALDH7A1)
Pyruvate carboxylase deficiency (PC) 丙酮酸羧化酶缺乏症(PC)
Pyruvate dehydrogenase complex deficiency (PDHA1) 丙酮酸脫氫酶複合物缺乏(PDHA1)
Pyruvate dehydrogenase complex deficiency (PDHB) 丙酮酸脫氫酶複合物缺乏(PDHB)
RAPSN-related conditions (RAPSN) RAPSN相關條件(RAPSN)
RDH12-related conditions (RDH12) RDH12相關條件(RDH12)
Refsum disease (PHYH) 雷夫蘇姆氏病症(PHYH)
Retinitis pigmentosa 2 (RP2) 視網膜色素變性2(RP2)
Retinitis pigmentosa 25 (EYS) 視網膜色素變性25(EYS)
Retinitis pigmentosa 28 (FAM161A) 視網膜色素變性28(FAM161A)
Retinitis pigmentosa 36 (GNPAT) 視網膜色素變性36(GNPAT)
Retinitis pigmentosa 62 (MAK) 視網膜色素變性62(mak)
Rhizomelic chondrodysplasia punctata type 2 (GNPAT) 肢近端型點狀軟骨發育不良2型(GNPAT)
Rhizomelic chondrodysplasia punctata type 3 (AGPS) 肢近端型點狀軟骨發育不良3型(AGP)
RLBP1-related conditions (RLBP1) RLBP1相關條件(RLBP1)
Roberts syndrome (ESCO2) 羅伯茨綜合症(ESCO2)
RPE65-related conditions (RPE65) RPE65相關條件(RPE65)
RYR1-related conditions (RYR1) RYR1相關條件(RYR1)
SAMD9-related conditions (SAMD9) SAMD9相關條件(SAMD9)
Sandhoff disease (HEXB) Sandoff症 (成年型GM2神經節
甘脂儲積症)(HEXB)
Schimke immuno-osseous dysplasia (SMARCAL1) Schimke 免疫性骨發育不良(Smarcal1)
Seckel syndrome (CEP152) SECKEL綜合徵(CEP152)
Sepiapterin reductase deficiency (SPR) Sepiapterin還原酶缺乏症(SPR)
Severe combined immunodeficiency due to CD3-delta deficiency (CD3D) 由於CD3-DELTA缺乏症(CD3D),嚴重的合併免疫缺陷
Severe combined immunodeficiency due to CD3-epsilon deficiency (CD3E) 由於CD3- EPSILON缺乏症(CD3E),嚴重的合併免疫缺陷
Severe combined immunodeficiency due to CD45 deficiency (PTPRC) 由於CD45缺乏症(PTPRC),嚴重的聯合免疫缺陷
Severe combined immunodeficiency due to DCLRE1C (Artemis) deficiency (DCLRE1C) 由於DCLRE1C(Artemis)而引起的嚴重複合型免疫缺陷症(DCLRE1C)
Severe combined immunodeficiency due to FOXN1 deficiency (FOXN1) 由於FOXN1缺乏症而引起的嚴重複合型免疫缺陷症(FOXN1)
Severe combined immunodeficiency due to IL7R-alpha deficiency (IL7R) 由於IL7R-Alpha缺乏症而引起的嚴重複合型免疫缺陷症(IL7R)
Severe combined immunodeficiency due to JAK3 deficiency (JAK3) 由於JAK3缺乏症引起的嚴重複合型免疫缺陷症(JAK3)
Severe combined immunodeficiency due to RAG1 deficiency (RAG1) 由於RAG1缺乏症引起的嚴重複合型免疫缺陷症(RAG1)
Severe combined immunodeficiency due to RAG2 deficiency (RAG2) 由於RAG2缺乏症引起的嚴重複合型免疫缺陷症(RAG2)
Severe congenital neutropenia due to G6PC3 deficiency (G6PC3) 由於G6PC3缺乏症引起的嚴重嗜中性白血球缺乏症(G6PC3)
Severe congenital neutropenia due to HAX1 deficiency (HAX1) 由於HAX1缺乏引起的嚴重嗜中性白血球缺乏症(HAX1)
Severe congenital neutropenia type 5 (VPS45) 嚴重嗜中性白血球缺乏症5型(VPS45)
Sialic acid storage diseases (SLC17A5) 游離唾液酸貯積症(SLC17A5)
Sialidosis (NEU1) 涎酸酵素缺乏症(NEU1)
Sjögren-Larsson syndrome (ALDH3A2) Sjögren-Larsson綜合徵(ALDH3A2)
SLC26A2-related conditions (SLC26A2) SLC26A2相關條件(SLC26A2)
SLC26A4-related conditions (SLC26A4) SLC26A4相關條件(SLC26A4)
SLC37A4-related conditions (SLC37A4) SLC37A4相關條件(SLC37A4)
Smith-Lemli-Opitz syndrome (DHCR7) Smith-Lemli-Opitz綜合徵(DHCR7)
Spastic paraplegia type 15 (ZFYVE26) 痙攣性下身麻痺15型(ZFYVE26)
Spastic paraplegia type 49 (TECPR2) 痙攣性下身麻痺49型(TECPR2)
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4) 痙攣性四肢麻痺,胼胝體萎縮和漸進性小頭症(SLC1A4)
SPG11-related conditions (SPG11) SPG11相關條件(SPG11)
Spinal muscular atrophy* 脊髓性肌肉萎縮症*
Spinocerebellar ataxia (ANO10) 脊髓小腦失調症(ANO10)
Spondylocostal dysostosis (DLL3) 脊柱肋骨發育不全(DLL3)
Spondylocostal dysostosis (MESP2) 脊柱肋骨發育不全(MESP2)
Steel syndrome (COL27A1) 竊血症候群(COL27A1)
Steroid 5-alpha-reductase deficiency (SRD5A2) 類固醇5-α-還原酶缺乏症(SRD5A2)
Stüve-Wiedemann syndrome (LIFR) Stüve-Wiedemann綜合徵(LIFR)
Sulfite oxidase deficiency (SUOX) 亞硫酸鹽氧化酶缺乏症(SUOX)
SURF1-related conditions (SURF1) Surf1相關條件(Surf1)
Tay-Sachs disease (HEXA) 家族黑矇性癡呆症(HEXA)
TBCE-related conditions (TBCE) 與TBCE相關條件(TBCE)
Thiamine-responsive megaloblastic anemia (SLC19A2) 硫胺反應性巨成紅血球性貧血(SLC19A2)
Thyroid dyshormonogenesis (SLC5A5) 甲狀腺素合成異常(SLC5A5)
Thyroid dyshormonogenesis (TG) 甲狀腺素合成異常(TG)
Thyroid dyshormonogenesis (TPO) 甲狀腺素合成異常(TPO)
TMEM67-related conditions (TMEM67) TMEM67相關條件(TMEM67)
Transcobalamin II deficiency (TCN2) 維生素B12再與轉鈷胺素II缺乏症(TCN2)
Transient infantile liver failure (TRMU) 瞬態嬰兒肝衰竭(TRMU)
TREX1-related conditions (TREX1) TREX1相關條件(TREX1)
Trichohepatoenteric syndrome (SKIV2L) 髮-肝-腸症候群(SKIV2L)
Trichohepatoenteric syndrome (TTC37) 髮-肝-腸症候群 (TTC37)
TRIM32-related conditions (TRIM32) TRIM32相關條件(TRIM32)
Trimethylaminuria (FMO3) 三甲基胺尿症(FMO3)
Triple A syndrome (AAAS) Triple A症候群(AAAS)
TSHR-related conditions (TSHR) 與TSHR相關條件(TSHR)
TULP1-related conditions (TULP1) TULP1相關條件(TULP1)
Tyrosine hydroxylase deficiency (TH) 酪氨酸羥化酶缺乏症(Th)
Tyrosinemia type I (FAH) I型酪氨酸血症(FAH)
Tyrosinemia type II (TAT) II型酪氨酸血症(TAT)
Tyrosinemia type III (HPD) III型酪氨酸血症(HPD)
USH1C-related conditions (USH1C) USH1C相關條件(USH1C)
USH2A-related conditions (USH2A) USH2A相關條件(USH2A)
Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL) 極長鏈醯輔酶A 去氫酶缺乏症(ACADVL)
Vici syndrome (EPG5) VICI綜合症(EPG5)
Vitamin D-dependent rickets type 1A (CYP27B1) 維生素D依賴性佝僂病1A型(CYP27B1)
Vitamin D-dependent rickets type 2A (VDR) 維生素D依賴性佝僂病2A型(VDR)
VRK1-related conditions (VRK1) VRK1相關條件(VRK1)
VSX2-related conditions (VSX2) VSX2相關條件(VSX2)
Warsaw syndrome (DDX11) 華沙綜合徵(DDX11)
WAS-related conditions (WAS) 與WAS相關條件(WAS)
Werner syndrome (WRN) Werner綜合徵(WRN)
Wilson disease (ATP7B) 威爾遜病(ATP7B)
WNT10A-related conditions (WNT10A) WNT10A相關條件(WNT10A)
Wolcott-Rallison syndrome (EIF2AK3) Wolcott-Rallison綜合症(EIF2AK3)
Woodhouse-Sakati syndrome (DCAF17) Woodhouse-Sakati綜合症(DCAF17)
X-linked adrenoleukodystrophy (ABCD1) x性染色體遺傳疾病- 腎上腺腦白質失氧症(ABCD1)
X-linked agammaglobulinemia (BTK) x性染色體遺傳疾病- 無丙種球蛋白血症(BTK)
X-linked chondrodysplasia punctata type 1 (ARSE) x性染色體遺傳疾病- 點狀軟骨發育不良1型(ASS)
X-linked creatine transporter deficiency (SLC6A8) x性染色體遺傳疾病- 肌酸轉運蛋白缺乏症(SLC6A8)
X-linked hyper-IgM immunodeficiency (CD40LG) x性染色體遺傳疾病- 高免疫球蛋白M症候群(CD40LG)
X-linked juvenile retinoschisis (RS1) x性染色體遺傳疾病- 視網膜裂損症(RS1)
X-linked myotubular myopathy (MTM1) x性染色體遺傳疾病- 肌小管肌肉病變(MTM1)
X-linked severe combined immunodeficiency (IL2RG) x性染色體遺傳疾病- 嚴重複合型免疫缺乏症(IL2RG)
Xeroderma pigmentosum complementation group A (XPA) 著色性乾皮症A(XPA)
Xeroderma pigmentosum complementation group C (XPC) 著色性乾皮症C(XPC)
Xeroderma pigmentosum, variant type (POLH) 著色性乾皮症 - 變體類型(POLH)
Zellweger spectrum disorder (PEX1) Zellweger氏症候群(PEX1)
Zellweger spectrum disorder (PEX10) Zellweger氏症候群(PEX10)
Zellweger spectrum disorder (PEX12) Zellweger氏症候群(PEX12)
Zellweger spectrum disorder (PEX13) Zellweger氏症候群(PEX13)
Zellweger spectrum disorder (PEX16) Zellweger氏症候群(PEX16)
Zellweger spectrum disorder (PEX2) Zellweger氏症候群(PEX2)
Zellweger spectrum disorder (PEX26) Zellweger氏症候群(PEX26)
Zellweger spectrum disorder (PEX6) Zellweger氏症候群(PEX6)

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