VISTA™ 遺傳病基因檢測
婚前檢測其中一項必做項目
VISTA™ 遺傳病
基因檢測
婚前檢測其中一項
必做項目
掌握遺傳疾病的關鍵,
保護下一代的未來!
VISTA™ 遺傳病基因檢測
基本檢測
VISTA™ Carrier Screening
Mini Panel
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12 種疾病
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14 個基因
進階檢測
VISTA™ Carrier Screening
Target Panel
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172 種疾病
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160+ 個基因
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11,000+ 個突變
全面檢測
VISTA™ Carrier Screening
MAX Panel
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1,231 種疾病
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1,236 個基因
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所有相關突變
分析超過700多個基因上的80,000多個位點,覆蓋800多種疾病,當中涉及自閉、抽筋、智力低下表型疾病約300種。
為何選擇 VISTA™ 遺傳病基因檢測 ?
VISTA™ 遺傳病基因檢測可在懷孕前或懷孕期間進行,非常適合想要了解其遺傳狀況以便做出更明智的生育決定的夫婦。
適用人群
- 目前懷孕或計劃生育的婦女或夫婦。 (建議夫婦雙方同時進行檢測。)
- 接受捐精或捐卵的夫婦想了解提供精子或卵子的人士有沒有攜帶隱性基因。
- 有遺傳病家族史或已知患有某些遺傳病風險的人,代表他們成為這些疾病攜帶者的風險更高。
簡單
僅使用 5mL 外周血進行測試。
高性價比
高精準度篩查多種疾病。
靈活
提供全面或有針對性的遺傳基因選項。
綜合
根據多項專業指南選擇攜帶者篩查條件,有助於最大限度地提高篩查檢測的準確度和風險。
準確
聯同NGS使用目標區域捕獲並結合常規方法而取得。
為什麽要進行遺傳病基因檢測?
基因從父母傳給下一代。孩子不僅會繼承父母的身體和外貌特徵,亦會繼承父母的才能。但如果父母傳給下一代的是隱性致命的基因呢?
大多數隱性遺傳病基因攜帶者並不知道自己有致命的突變基因。如果父母雙方都攜帶隱性突變基因,下一代就有可能成為重症患者至死亡。
研究表明,平均每個人攜帶2.8個隱性致病基因。[1] 雖然個別遺傳病的發病率較低,但整體遺傳病的發病率卻高於1/100,比唐氏綜合症在香港的發病率更高(1/700)。[2] 如果父母雙方都有隱性致病基因,則有3/4的機率將相關基因遺傳給下一代,孩子更有1/4的機率患重病。嚴重者會出現終生畸形、殘疾甚至死亡。
因此,如果能儘早知道下一代患上隱性遺傳病的風險,可以幫助計劃生育的夫婦和懷孕初期的孕婦提前做好準備。
染色體隱性遺傳模式
如果夫婦雙方均檢測出攜帶有同一種常染色體隱性遺傳病的致病突變,則孩子有25%的概率是患者。
X連鎖隱性遺傳模式
如果母親是X連鎖遺傳病的攜帶者,則兒子有50%的概率是患者。
VISTA™ 遺傳病基因檢測 - 標準版
疾病 | 基因 | 發病率 | 携帶率[3] |
---|---|---|---|
脆性 X 綜合徵 | FMR1 | 1/5000 男性 | 1/250 |
假肥大性肌營養不良 | DMD | 1/3500 新生男嬰 | 未知 |
乙型血友病 | F9 | 1/20000 男性 | 未知 |
遺傳性耳聾 | GJB2, SLC26A4 | 1/700 – 1/1000 新生兒 | 1/29 GJB2 1/59 SLC26A4 |
脊髓性肌肉萎縮症 | SMN1 | 1/6000 – 1/10000 | 1/62 |
苯丙酮尿症 | PAH | 1/11144 | 1/53 |
威爾遜氏症 | ATP7B | 1/30000 | 1/90 |
糖原累積病 | GAA | 1/50000 中國南方 | 1/100 |
半乳糖血症狀 | GALT | 1/40000 | 1/317 |
α-地中海貧血 | HBA1, HBA2 | 1/10000 – 1/50000中國南方 | 1/6-1/52中國南方 |
β-地中海貧血 | HBB | 66/10000 新生兒 | 1/16-1/88中國南方 |
囊狀纖維化 | CFTR | - | 未知 |
VISTA™ 遺傳病例子
VISTA™ 遺傳病基因檢測涵蓋最常見的疾病,例如:
遺傳病 | 簡介 |
---|---|
糖原累積病 | 人稱肌營不良症,是一種會導致肌肉萎縮、肌肉蛋白質缺失和肌肉組織壞死的遺傳性疾病。 |
杜興氏肌肉萎縮症 | 全球每30,000人中就有1人患此症。 |
威爾遜氏症 | 白種人中最常見的致命遺傳性疾病之一。 |
囊性纖維化 | 每50人中就有1人是此症的攜帶者。 |
脊髓肌肉萎縮症 | 最全面涵蓋市場上所有類型的龐貝氏症。 |
VISTA™ 遺傳病基因檢測 - 標準版
VISTA™ 遺傳病例子
VISTA™ 遺傳病基因檢測涵蓋最常見的疾病,例如:
單基因遺傳病基因檢測 - 高級版
Vista Condition List (Targeted Panel 2.0)
疾病中文名 | 疾病英文名 | 檢測基因 | 遺傳模式 | |
---|---|---|---|---|
1 | 11-β-羥化酶缺乏性先天性腎上腺皮質增生症 | Congenital Adrenal Hyperplasia due to 11-beta-Hydroxylase-Deficiency | CYP11B1 | AR |
2 | 17-α羥化酶缺乏性先天性腎上腺皮質增生症 | Congenital Adrenal Hyperplasia due to 17-alpha Hydroxylase Deficiency | CYP17A1 | AR |
3 | 1 型纖溶酶原缺乏症 | Plasminogen Deficiency, TypeI | PLG | AR |
4 | 2,4-二烯醯輔酶 A 還原酶缺乏症 | 2,4-Dienoyl-CoA Reductase Deficiency | NADK2 | AR |
5 | 2-甲基丁醯甘氨酸尿症 | 2-Methylbutyryl Glycinuria | ACADSB | AR |
6 | 3MC 綜合症 1 型 | 3MC Syndrome 1 | MASP1 | AR |
7 | 3MC 綜合症 2 型 | 3MC Syndrome 2 | COLEC11 | AR |
8 | 3-M 綜合症 2 型 | 3-M Syndrome 2 | OBSL1 | AR |
9 | 3-β-羥類固醇脫氫酶缺乏症 | 3-beta-Hydroxysteroid Dehydrogenase Deficiency | HSD3B2 | AR |
10 | 3-甲基戊烯二酸尿症 1 型 | 3-Methylglutaconic Aciduria Type1 | AUH | AR |
11 | 3-甲基戊烯二酸尿症 3 型 | 3-Methylglutaconic Aciduria Type3 | OPA3 | AR |
12 | 3-甲基戊烯二酸尿症 5 型 | 3-Methylglutaconic Aciduria Type5 | DNAJC19 | AR |
13 | 3-甲基戊烯二酸尿症 8 型 | 3-Methylglutaconic Aciduria Type8 | HTRA2 | AR |
14 | 3-甲基戊烯二酸尿症伴白內障、神經病及中性粒細胞减少 | 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, and Neutropenia | CLPB | AR |
15 | 3-甲基戊烯二酸尿症伴耳聾、腦病及 leigh 樣綜合症 | 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome | SERAC1 | AR |
16 | 3-羥基-3-甲基戊二醯輔酶 A 合成酶 2 缺 乏症 | 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | HMGCS2 | AR |
17 | 3-羥基-3-甲基戊二醯輔酶 A 裂解酶缺乏症 | 3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency | HMGCL | AR |
18 | 3-羥異丁醯-輔酶 A 水解酶缺乏症 | 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency | HIBCH | AR |
19 | 5’磷酸吡多醛依賴性癲癇 | Pyridoxal 5′-Phosphate-dependent Epilepsy | PNPO | AR |
20 | AB 變異型 GM2 神經節苷脂貯積症 | GM2-gangliosidosis, AB Variant | GM2A | AR |
21 | Adams-Oliver 綜合症 2 型 | Adams-Oliver Syndrome 2 | DOCK6 | AR |
22 | Adams-Oliver 綜合症 4 型 | Adams-Oliver Syndrome 4 | EOGT | AR |
23 | Aicardi-Goutieres 綜合症 1 型 | Aicardi-Goutieres Syndrome 1 | TREX1 | AR |
24 | Aicardi-Goutieres 綜合症 2 型 | Aicardi-Goutieres Syndrome 2 | RNASEH2B | AR |
25 | Aicardi-Goutieres 綜合症 3 型 | Aicardi-Goutieres Syndrome 3 | RNASEH2C | AR |
26 | Aicardi-Goutieres 綜合症 4 型 | Aicardi-Goutieres Syndrome 4 | RNASEH2A | AR |
27 | Aicardi-Goutieres 綜合症 5 型 | Aicardi-Goutieres Syndrome 5 | SAMHD1 | AR |
28 | Aicardi-Goutieres 綜合症 6 型 | Aicardi-Goutieres Syndrome 6 | ADAR | AR |
29 | Al Kaissi 綜合症 | Al Kaissi Syndrome | CDK10 | AR |
30 | Alazami 綜合症 | Alazami Syndrome | LARP7 | AR |
31 | Alkuraya-Kucinskas 綜合症 | Alkuraya-Kucinskas Syndrome | BLTP1 | AR |
32 | Allan-Herndon-Dudley 綜合症 | Allan-Herndon-Dudley Syndrome | SLC16A2 | XL |
33 | Alstrom 綜合症 | Alstrom Syndrome | ALMS1 | AR |
34 | Anauxetic 發育不良 2 型 | Anauxetic Dysplasia 2 | POP1 | AR |
35 | Antley-Bixler 綜合症伴生殖異常與甾體合成異常 | Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis | POR | AR |
36 | Arts 綜合症 | Arts Syndrome | PRPS1 | XL |
37 | Athabaskan 腦幹發育不全綜合症 | Athabaskan Brain Stem Dysgenesis Syndrome | HOXA1 | AR |
38 | Baller-Gerold 綜合症 | Baller-Gerold Syndrome | RECQL4 | AR |
39 | Bardet-Biedl 綜合症 10 型 | Bardet-Biedl Syndrome 10 | BBS10 | AR |
40 | Bardet-Biedl 綜合症 12 型 | Bardet-Biedl Syndrome 12 | BBS12 | AR |
41 | Bardet-Biedl 綜合症 16 型 | Bardet-Biedl Syndrome 16 | SDCCAG8 | AR |
42 | Bardet-Biedl 綜合症 17 型 | Bardet-Biedl Syndrome 17 | LZTFL1 | AR |
43 | Bardet-Biedl 綜合症 1 型 | Bardet-Biedl Syndrome 1 | BBS1 | AR |
44 | Bardet-Biedl 綜合症 2 型 | Bardet-Biedl Syndrome 2 | BBS2 | AR |
45 | Bardet-Biedl 綜合症 3 型 | Bardet-Biedl Syndrome 3 | ARL6 | AR |
46 | Bardet-Biedl 綜合症 4 型 | Bardet-Biedl Syndrome 4 | BBS4 | AR |
47 | Bardet-Biedl 綜合症 5 型 | Bardet-Biedl Syndrome 5 | BBS5 | AR |
48 | Bardet-Biedl 綜合症 7 型 | Bardet-Biedl Syndrome 7 | BBS7 | AR |
49 | Bardet-Biedl 綜合症 8 型 | Bardet-Biedl Syndrome 8 | TTC8 | AR |
50 | Bardet-Biedl 綜合症 9 型 | Bardet-Biedl Syndrome 9 | BBS9 | AR |
51 | Barth 綜合症 | Barth Syndrome | TAZ | XL |
52 | Bartter 綜合症 1 型 | Bartter Syndrome 1 | SLC12A1 | AR |
53 | Bartter 綜合症 2 型 | Bartter Syndrome 2 | KCNJ1 | AR |
54 | Basel-Vanagait-Smirin-Yosef 綜合症 | Basel-Vanagait-Smirin-Yosef Syndrome | MED25 | AR |
55 | BEHR 綜合症 | BEHR Syndrome | OPA1 | AR |
56 | BH4 缺乏性高苯丙氨酸血症 C 型 | BH4-Deficient Hyperphenylalaninemia C | QDPR | AR |
57 | Blomstrand 型軟骨發育異常 | Chondro Dysplasia, Blomstrand Type | PTH1R | AR |
58 | Bloom 綜合症 | Bloom Syndrome | BLM | AR |
59 | Borjeson-Forssman-Lehmann 綜合症 | Borjeson-Forssman-Lehmann Syndrome | PHF6 | XL |
60 | Boucher-Neuhauser 綜合症 | Boucher-Neuhauser Syndrome | PNPLA6 | AR |
61 | Brachyolmia 4 型 | Brachyolmia Type4 | PAPSS2 | AR |
62 | Brown-Vialetto-Van Laere 綜合症 1 型 | Brown-Vialetto-Van Laere Syndrome 1 | SLC52A3 | AR |
63 | Brown-Vialetto-Van Laere 綜合症 2 型 | Brown-Vialetto-Van Laere Syndrome 2 | SLC52A2 | AR |
64 | Bruck 綜合症 1 型 | Bruck Syndrome 1 | FKBP10 | AR |
65 | Bruck 綜合症 2 型 | Bruck Syndrome 2 | PLOD2 | AR |
66 | Brunner 綜合症 | Brunner Syndrome | MAOA | XL |
67 | Burn-Mckeown 綜合症 | Burn-Mckeown Syndrome | TXNL4A | AR |
68 | Canavan 病 | Canavan Disease | ASPA | AR |
69 | Carey-Fineman-Ziter 綜合症 | Carey-Fineman-Ziter Syndrome | MYMK | AR |
70 | Carpenter 綜合症 1 型 | Carpenter Syndrome 1 | RAB23 | AR |
71 | Carpenter 綜合症 2 型 | Carpenter Syndrome 2 | MEGF8 | AR |
72 | Cayman 型小腦共濟失調 | Cerebellar Ataxia, Cayman Type | ATCAY | AR |
73 | Cenani-Lenz 幷指(趾)綜合症 | Cenani-Lenz Syndactyly Syndrome | LRP4 | AR |
74 | Chanarin-Dorfman 綜合症 | Chanarin-Dorfman Syndrome | ABHD5 | AR |
75 | Charcot-Marie-Tooth 病,軸突型 2A2B 型 | Charcot-Marie-Tooth Disease, Axonal, Type 2A2B | MFN2 | AR |
76 | Charcot-Marie-Tooth 病 3 型 | Charcot-Marie-Tooth Disease Type3 | PRX | AR |
77 | Charcot-Marie-Tooth 病 4B1 型 | Charcot-Marie-Tooth Disease Type4B1 | MTMR2 | AR |
78 | Charcot-Marie-Tooth 病 4C 型 | Charcot-Marie-Tooth Disease Type4C | SH3TC2 | AR |
79 | Charcot-Marie-Tooth 病 4D 型 | Charcot-Marie-Tooth Disease Type4D | NDRG1 | AR |
80 | Chediak-Higashi 綜合症 | Chediak-Higashi Syndrome | LYST | AR |
81 | Christianson 型 X 連鎖智力障礙綜合症 | X-Linked Syndromic Mental Retardation, Christianson type | SLC9A6 | XL |
82 | Chudley-McCullough 綜合症 | Chudley-McCullough Syndrome | GPSM2 | AR |
83 | Claes-Jensen 型 X 連鎖綜合症型智力障礙 | X-Linked Syndromic Mental Retardation, Claes-Jensen type | KDM5C | XL |
84 | COACH 綜合症 | COACH Syndrome | TMEM67, CC2D2A | AR |
85 | Cockayne 綜合症 A 型 | Cockayne Syndrome A | ERCC8 | AR |
86 | Cockayne 綜合症 B 型 | Cockayne Syndrome B | ERCC6 | AR |
87 | CODAS 綜合症 | CODAS Syndrome | LONP1 | AR |
88 | Coffin-Lowry 綜合症 | Coffin-Lowry Syndrome | RPS6KA3 | XL |
89 | Cohen 綜合症 | Cohen Syndrome | VPS13B | AR |
90 | Crigler-Najjar 綜合症 1 型 | Crigler-Najjar Syndrome Type1 | UGT1A1 | AR |
91 | D,L-2-羥基戊二酸尿症 | D,L-2-hydroxyglutaric aciduria | SLC25A1 | AR |
92 | D-2-羥基戊二酸尿症 1 型 | D-2-hydroxyglutaric aciduria 1 | D2HGDH | AR |
93 | DCLRE1C 重型聯合免疫缺陷症 | DCLRE1C-Related Severe Combined Immuno Deficiency | DCLRE1C | AR |
94 | Dejerine-Sottas 肥大性神經病 | Hypertrophic Neuropathy of Dejerine Sottas | MPZ | AR |
95 | Desbuquois 發育不良 1 型 | Desbuquois Dysplasia 1 | CANT1 | AR |
96 | Desbuquois 發育不良 2 型 | Desbuquois Dysplasia 2 | XYLT1 | AR |
97 | Donnai-Barrow 綜合症 | Donnai-Barrow Syndrome | LRP2 | AR |
98 | Dyggve-Melchior-Clausen 病 | Dyggve-Melchior-Clausen Disease | DYM | AR |
99 | D-甘油酸尿症 | D-Glyceric Aciduria | GLYCTK | AR |
100 | D-雙功能蛋白缺乏症 | D-bifunctional protein Deficiency | HSD17B4 | AR |
101 | Ehlers-Danlos 綜合症 6 型 | Ehlers-Danlos Syndrome TypeVI | PLOD1 | AR |
102 | Ehlers-Danlos 綜合症 7C 型 | Ehlers-Danlos Syndrome TypeVIIC | ADAMTS2 | AR |
103 | Ehlers-Danlos 綜合症伴脊柱後凸側彎、肌病及耳聾 | Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss | FKBP14 | AR |
104 | Ellis-van Creveld 綜合症 | Ellis-van Creveld Syndrome | EVC,EVC2 | AR |
105 | Elsahy-Waters 綜合症 | Elsahy-Waters Syndrome | CDH11 | AR |
106 | Fabry 病 | Fabry Disease | GLA | XL |
107 | Fanconi-Bickel 綜合症 | Fanconi-Bickel Syndrome | SLC2A2 | AR |
108 | Farber 脂肪肉芽腫病 | Farber Lipogranulomatosis | ASAH1 | AR |
109 | FG 綜合症 2 型 | FG Syndrome Type2 | FLNA | XL |
110 | FG 綜合症 4 型 | FG Syndrome Type4 | CASK | XL |
111 | Filippi 綜合症 | Filippi Syndrome | CKAP2L | AR |
112 | Frank-ter Haar 綜合症 | Frank-ter Haar Syndrome | SH3PXD2B | AR |
113 | Fraser 綜合症 1 型 | Fraser Syndrome 1 | FRAS1 | AR |
114 | Fraser 綜合症 2 型 | Fraser Syndrome 2 | FREM2 | AR |
115 | Fraser 綜合症 3 型 | Fraser Syndrome 3 | GRIP1 | AR |
116 | FRAXE 型 X 連鎖智力障礙 | X-linked Mental Retardation, FRAXE type | AFF2 | XL |
117 | GABA 轉氨酶缺乏症 | GABA-Transaminase Deficiency | ABAT | AR |
118 | Galloway-Mowat 綜合症 1 型 | Galloway-Mowat Syndrome 1 | WDR73 | AR |
119 | Galloway-Mowat 綜合症 3 型 | Galloway-Mowat Syndrome 3 | OSGEP | AR |
120 | Geleophysic 發育不良 1 型 | Geleophysic Dysplasia 1 | ADAMTSL2 | AR |
121 | Genevieve 型脊椎幹骺端發育不全 | Spondyloepimetaphyseal Dysplasia, Genevieve Type | NANS | AR |
122 | Gillespie 綜合症 | Gillespie Syndrome, Autosomal recessive | ITPR1 | AR |
123 | Goldberg-Shprintzen 綜合症 | Goldberg-Shprintzen Syndrome | KIFBP | AR |
124 | Gracile 綜合症 | Gracile Syndrome | BCS1L | AR |
125 | Greenberg 骨發育不良 | Greenberg Dysplasia | LBR | AR |
126 | Griscelli 綜合症 2 型 | Griscelli Syndrome 2 | RAB27A | AR |
127 | GTP 環化水解酶 1 缺乏性多巴反應性張力失調 | Dopa-Responsive Dystonia | GCH1 | AR |
128 | Hennekam 淋巴管擴張-淋巴水腫綜合症 1 型 | Hennekam Lymphangiectasia-Lymphedema Syndrome 1 | CCBE1 | AR |
129 | Hennekam 淋巴管擴張症-淋巴水腫綜合症 2 型 | Hennekam Lymphangiectasia-Lymphedema Syndrome 2 | FAT4 | AR |
130 | Hermansky-Pudlak 綜合症 1 型 | Hermansky-Pudlak Syndrome 1 | HPS1 | AR |
131 | Hermansky-Pudlak 綜合症 3 型 | Hermansky-Pudlak Syndrome 3 | HPS3 | AR |
132 | Hermansky-Pudlak 綜合症 4 型 | Hermansky-Pudlak Syndrome 4 | HPS4 | AR |
133 | Hermansky-Pudlak 綜合症 5 型 | Hermansky-Pudlak Syndrome 5 | HPS5 | AR |
134 | Hermansky-Pudlak 綜合症 6 型 | Hermansky-Pudlak Syndrome 6 | HPS6 | AR |
135 | HSD10 綫粒體疾病 | HSD10 Mitochondrial Disease | HSD17B10 | XL |
136 | Hurler-Scheie 綜合症 | Hurler-Scheie Syndrome | IDUA | AR |
137 | Hurler 綜合症 | Hurler Syndrome | IDUA | AR |
138 | IPEX 綜合症 | X-linked Immunodysregulation, Polyendocrinopathy, and Enteropathy | FOXP3 | XL |
139 | Jalili 綜合症 | Jalili Syndrome | CNNM4 | AR |
140 | Jervell 和 Lange-Nielsen 綜合症 1 型 | Jervell and Lange-Nielsen Syndrome 1 | KCNQ1 | AR |
141 | Jervell 和 Lange-Nielsen 綜合症 2 型 | Jervell and Lange-Nielsen Syndrome 2 | KCNE1 | AR |
142 | Johanson-Blizzard 綜合症 | Johanson-Blizzard Syndrome | UBR1 | AR |
143 | Joubert 綜合症 10 型 | Joubert Syndrome 10 | OFD1 | XL |
144 | Joubert 綜合症 14 型 | Joubert Syndrome 14 | TMEM237 | AR |
145 | Joubert 綜合症 15 型 | Joubert Syndrome 15 | CEP41 | AR |
146 | Joubert 綜合症 16 型 | Joubert Syndrome 16 | TMEM138 | AR |
147 | Joubert 綜合症 17 型 | Joubert Syndrome 17 | CPLANE1 | AR |
148 | Joubert 綜合症 18 型 | Joubert Syndrome 18 | TCTN3 | AR |
149 | Joubert 綜合症 1 型 | Joubert Syndrome 1 | INPP5E | AR |
150 | Joubert 綜合症 20 型 | Joubert Syndrome 20 | TMEM231 | AR |
151 | Joubert 綜合症 21 型 | Joubert Syndrome 21 | CSPP1 | AR |
152 | Joubert 綜合症 24 型 | Joubert Syndrome 24 | TCTN2 | AR |
153 | Joubert 綜合症 2 型 | Joubert Syndrome 2 | TMEM216 | AR |
154 | Joubert 綜合症 3 型 | Joubert Syndrome 3 | AHI1 | AR |
155 | Joubert 綜合症 4 型 | Joubert Syndrome 4 | NPHP1 | AR |
156 | Joubert 綜合症 5 型 | Joubert Syndrome 5 | CEP290 | AR |
157 | Joubert 綜合症 6 型 | Joubert Syndrome 6 | TMEM67 | AR |
158 | Joubert 綜合症 8 型 | Joubert Syndrome 8 | ARL13B | AR |
159 | Joubert 綜合症 9 型 | Joubert Syndrome 9 | CC2D2A | AR |
160 | Kaufman 眼腦面綜合症 | Kaufman Oculocerebrofacial Syndrome | UBE3B | AR |
161 | Kenny-Caffey 綜合症 1 型 | Kenny-Caffey Syndrome Type1 | TBCE | AR |
162 | Keutel 綜合症 | Keutel Syndrome | MGP | AR |
163 | Kindler 綜合症 | Kindler Syndrome | FERMT1 | AR |
164 | Knobloch 綜合症 1 型 | Knobloch Syndrome TypeI | COL18A1 | AR |
165 | Kohlschutter-Tonz 綜合症 | Kohlschutter-Tonz Syndrome | ROGDI | AR |
166 | Krabbe 病 | Krabbe Disease | GALC | AR |
167 | L-2-羥基戊二酸尿症 | L-2-hydroxyglutaric Aciduria | L2HGDH | AR |
168 | Lafora 病 | Lafora Disease | EPM2A | AR |
169 | Lafora 型進行性肌陣攣癲癇 | Myoclonic epilepsy of Lafora | NHLRC1 | AR |
170 | LAMA3 相關性交界型大疱性表皮松解 | LAMA3-Related Junctional Epidermolysis Bullosa | LAMA3 | AR |
171 | LAMB3 相關性交界型大疱性表皮松解 | LAMB3-Related Junctional Epidermolysis Bullosa | LAMB3 | AR |
172 | LAMC2 相關性交界型大疱性表皮松解 | LAMC2-Related Junctional Epidermolysis Bullosa | LAMC2 | AR |
173 | Leber 氏先天性黑蒙 12 型 | Leber Congenital Amaurosis 12 | RD3 | AR |
174 | Leber 氏先天性黑蒙 13 型 | Leber Congenital Amaurosis 13 | RDH12 | AR |
175 | Leber 氏先天性黑蒙 14 型 | Leber congenital Amaurosis 14 | LRAT | AR |
176 | Leber 氏先天性黑蒙 1 型 | Leber Congenital Amaurosis 1 | GUCY2D | AR |
177 | Leber 氏先天性黑蒙 2 型 | Leber Congenital Amaurosis 2 | RPE65 | AR |
178 | Leber 氏先天性黑蒙 3 型 | Leber Congenital Amaurosis 3 | SPATA7 | AR |
179 | Leber 氏先天性黑蒙 5 型 | Leber Congenital Amaurosis 5 | LCA5 | AR |
180 | Leber 氏先天性黑蒙 8 型 | Leber Congenital Amaurosis 8 | CRB1 | AR |
181 | Leber 氏先天性黑蒙 9 型 | Leber Congenital Amaurosis 9 | NMNAT1 | AR |
182 | Lesch-Nyhan 綜合症 | Lesch-Nyhan Syndrome | HPRT1 | XL |
183 | LIG4 綜合症 | LIG4 Syndrome | LIG4 | AR |
184 | Lowe 綜合症 | Lowe Syndrome | OCRL | XL |
185 | Lujan-Fryns 綜合症 | Lujan-Fryns Syndrome | MED12 | XL |
186 | Majeed 綜合症 | Majeed Syndrome | LPIN2 | AR |
187 | Marinesco-Sjogren 綜合症 | Marinesco-Sjogren Syndrome | SIL1 | AR |
188 | MASA 綜合症 | MASA Syndrome | L1CAM | XL |
189 | McKusick Kaufman 綜合症 | McKusick-Kaufman Syndrome | MKKS | AR |
190 | Meckel 綜合症 1 型 | Meckel Syndrome 1 | MKS1 | AR |
191 | Meckel 綜合症 2 型 | Meckel Syndrome 2 | TMEM216 | AR |
192 | Meckel 綜合症 3 型 | Meckel Syndrome 3 | TMEM67 | AR |
193 | Meckel 綜合症 4 型 | Meckel Syndrome 4 | CEP290 | AR |
194 | Meckel 綜合症 5 型 | Meckel Syndrome 5 | RPGRIP1L | AR |
195 | MECP2 突變所致重症新生兒腦病 | Neonatal Severe Encephalopathy due To MECP2 Mutations | MECP2 | XL |
196 | Meester-Loeys 綜合症 | Meester-Loeys Syndrome | BGN | XL |
197 | Megaconial 型先天性肌營養不良 | Congenital Muscular Dystrophy, Megaconial type | CHKB | AR |
198 | MEHMO 綜合症 | MEHMO Syndrome | EIF2S3 | XL |
199 | Meier-Gorlin 綜合症 1 型 | Meier-Gorlin Syndrome 1 | ORC1 | AR |
200 | Meier-Gorlin 綜合症 3 型 | Meier-Gorlin Syndrome 3 | ORC6 | AR |
201 | Meier-Gorlin 綜合症 4 型 | Meier-Gorlin Syndrome 4 | CDT1 | AR |
202 | Meier-Gorlin 綜合症 7 型 | Meier-Gorlin Syndrome 7 | CDC45 | AR |
203 | Menkes 病 | Menkes Disease | ATP7A | XL |
204 | Merosin 缺乏性先天性肌營養不良 1A 型 | Merosin-deficient Congenital Muscular Dystrophy Type 1A | LAMA2 | AR |
205 | Miller 綜合症 | Miller Syndrome | DHODH | AR |
206 | Mitchell-Riley 綜合症 | Mitchell-Riley Syndrome | RFX6 | AR |
207 | Mohr-Tranebjaerg 綜合症 | Mohr-Tranebjaerg Syndrome | TIMM8A | XL |
208 | MYD88 缺乏性復發化膿性細菌感染 | Recurrent Pyogenic Bacterial Infections due to MYD88 Deficiency | MYD88 | AR |
209 | Nascimento 型 X 連鎖綜合症型智力障礙 | X-Linked Syndromic Mental Retardation, Nascimento-type | UBE2A | XL |
210 | Naxos 病 | Naxos Disease | JUP | AR |
211 | Netherton 綜合症 | Netherton Syndrome | SPINK5 | AR |
212 | Neu-Laxova 綜合症 1 型 | Neu-Laxova Syndrome 1 | PHGDH | AR |
213 | Neu-Laxova 綜合症 2 型 | Neu-Laxova Syndrome 2 | PSAT1 | AR |
214 | Niemann-Pick 病 A 型 | Niemann-Pick Disease Type A | SMPD1 | AR |
215 | Niemann-Pick 病 B 型 | Niemann-Pick Disease Type B | SMPD1 | AR |
216 | Niemann-Pick 病 C1 型 | Niemann-Pick Disease Type C1 | NPC1 | AR |
217 | Niemann-Pick 病 C2 型 | Niemann-Pick Disease Type C2 | NPC2 | AR |
218 | Norrie 病 | Norrie Disease | NDP | XL |
219 | N-乙醯谷氨酸合成酶缺乏症 | N-acetylglutamate Synthase Deficiency | NAGS | AR |
220 | Ogden 綜合症 | Ogden Syndrome | NAA10 | XL |
221 | Omani 型脊椎骺發育不全 | Spondyloepiphyseal Dysplasia, Omani type | CHST3 | AR |
222 | Omenn 綜合症 | Omenn Syndrome | RAG1, RAG2 | AR |
223 | Opitz Gbbb 綜合症 I 型 | Opitz Gbbb Syndrome, TypeI | MID1 | XL |
224 | Opsismo 發育不良 | Opsismo Dysplasia | INPPL1 | AR |
225 | PEHO 綜合症 | PEHO Syndrome | ZNHIT3 | AR |
226 | PERCHING 綜合症 | PERCHING Syndrome | KLHL7 | AR |
227 | Perlman 綜合症 | Perlman Syndrome | DIS3L2 | AR |
228 | Perrault 綜合症 3 型 | Perrault Syndrome 3 | CLPP | AR |
229 | Perrault 綜合症 4 型 | Perrault Syndrome 4 | LARS2 | AR |
230 | Peters Plus 綜合症 | Peters Plus Syndrome | B3GLCT | AR |
231 | Pierson 綜合症 | Pierson Syndrome | LAMB2 | AR |
232 | Pitt-Hopkins 樣綜合症 1 型 | Pitt-Hopkins like Syndrome 1 | CNTNAP2 | AR |
233 | Poretti-Boltshauser 綜合症 | Poretti-Boltshauser Syndrome | LAMA1 | AR |
234 | Raine 綜合症 | Raine Syndrome | FAM20C | AR |
235 | Raymond 型 X 連鎖綜合症型智力障礙 | X-Linked Syndromic Mental Retardation, Raymond Type | ZDHHC9 | XL |
236 | Renpenning 綜合症 | Renpenning Syndrome | PQBP1 | XL |
237 | Sandhoff 病 | Sandhoff Disease | HEXB | AR |
238 | Saposin B 缺乏性異染性腦白質病變 | Metachromatic Leukodystrophy due to Saposin B Deficiency | PSAP | AR |
239 | Schimke 免疫性骨發育不良 | Schimke Immunoosseous Dysplasia | SMARCAL1 | AR |
240 | Schneckenbecken 發育不良 | Schneckenbecken Dysplasia | SLC35D1 | AR |
241 | Schwartz-Jampel 綜合症 1 型 | Schwartz-Jampel Syndrome, Type1 | HSPG2 | AR |
242 | Schwartz-Jampel 綜合症 2 型 | Schwartz-Jampel Syndrome, Type2 | LIFR | AR |
243 | SC-短肢綜合症 | SC Phocomelia Syndrome | ESCO2 | AR |
244 | Seckel 綜合症 1 型 | Seckel Syndrome Type1 | ATR | AR |
245 | Seckel 綜合症 2 型 | Seckel Syndrome Type2 | RBBP8 | AR |
246 | Seckel 綜合症 5 型 | Seckel Syndrome Type5 | CEP152 | AR |
247 | Segawa 綜合症 | Segawa Syndrome, recessive | TH | AR |
248 | Sengers 綜合症 | Sengers Syndrome | AGK | AR |
249 | Senior-Loken 綜合症 4 型 | Senior-Loken Syndrome 4 | NPHP4 | AR |
250 | Senior-Loken 綜合症 5 型 | Senior-Loken Syndrome 5 | IQCB1 | AR |
251 | Senior-Loken 綜合症 8 型 | Senior-Loken Syndrome 8 | WDR19 | AR |
252 | Shwachman-Diamond 綜合症 | Shwachman-Diamond Syndrome | SBDS | AR |
253 | Siderius 型 X 連鎖綜合症型智力障礙 | X-linked Mental Retardation Syndrome, Siderius | PHF8 | XL |
254 | Simpson-Golabi-Behmel 綜合症 1 型 | Simpson-Golabi-Behmel Syndrome Type1 | GPC3 | XL |
255 | Sjögren-Larsson 綜合症 | Sjögren-Larsson Syndrome | ALDH3A2 | AR |
256 | Smith-Lemli-Opitz 綜合症 | Smith-Lemli-Opitz Syndrome | DHCR7 | AR |
257 | Smith-McCort 綜合症 2 型 | Smith-McCort Dysplasia 2 | RAB33B | AR |
258 | Snyder-Robinson 智力障礙綜合症 | Snyder-Robinson Mental Retardation Syndrome | SMS | XL |
259 | Steel 綜合症 | Steel Syndrome | COL27A1 | AR |
260 | TARP 綜合症 | TARP Syndrome | RBM10 | XL |
261 | Tay-Sachs 病 | Tay-Sachs Disease | HEXA | AR |
262 | Temtamy 軸前性短指綜合症 | Temtamy Preaxial Brachydactyly Syndrome | CHSY1 | AR |
263 | Temtamy 綜合症 | Temtamy Syndrome | C12orf57 | AR |
264 | Tenascin-X 缺乏型 Ehlers-Danlos 綜合症 | Tenascin-X Deficiency Type Ehlers-Danlos Syndrome | TNXB | AR |
265 | Ullrich 先天性肌營養不良 1 型 | Ullrich Congenital Muscular Dystrophy 1 | COL6A1,COL6A2, COL6A3 | AR |
266 | Usher 綜合症 1B 型 | Usher Syndrome Type IB | MYO7A | AR |
267 | Usher 綜合症 1C 型 | Usher Syndrome Type IC | USH1C | AR |
268 | Usher 綜合症 1D 型 | Usher Syndrome, Type 1D | CDH23 | AR |
269 | Usher 綜合症 1F 型 | Usher Syndrome Type IF | PCDH15 | AR |
270 | Usher 綜合症 1G 型 | Usher Syndrome Type IG | USH1G | AR |
271 | Usher 綜合症 1 型 | Usher Syndrome Type IJ | CIB2 | AR |
272 | Usher 綜合症 2A 型 | Usher Syndrome Type IIA | USH2A | AR |
273 | Usher 綜合症 2D 型 | Usher Syndrome Type IID | WHRN | AR |
274 | Usher 綜合症 3A 型 | Usher Syndrome Type IIIA | CLRN1 | AR |
275 | Van Den Ende-Gupta 綜合症 | Van Den Ende-Gupta Syndrome | SCARF2 | AR |
276 | Van Maldergem 綜合症 1 型 | Van Maldergem Syndrome 1 | DCHS1 | AR |
277 | Vici 綜合症 | Vici Syndrome | EPG5 | AR |
278 | VII 因子缺乏症 | Factor VII Deficiency | F7 | AR |
279 | V 因子缺乏症 | Factor V Deficiency | F5 | AR |
280 | Warburg Micro 綜合症 1 型 | Warburg Micro Syndrome 1 | RAB3GAP1 | AR |
281 | Warburg Micro 綜合症 2 型 | Warburg Micro Syndrome 2 | RAB3GAP2 | AR |
282 | Warburg Micro 綜合症 3 型 | Warburg Micro Syndrome 3 | RAB18 | AR |
283 | Wieacker-Wolff 綜合症 | Wieacker-Wolff Syndrome | ZC4H2 | XL |
284 | Wiskott-Aldrich 綜合症 1 型 | Wiskott-Aldrich Syndrome 1 | WAS | XL |
285 | Wolfram 綜合症 1 型 | Wolfram Syndrome 1 | WFS1 | AR |
286 | Wolfram 綜合症 2 型 | Wolfram Syndrome 2 | CISD2 | AR |
287 | Woodhouse-Sakati 綜合症 | Woodhouse-Sakati Syndrome | DCAF17 | AR |
288 | X 連鎖 Alport 綜合症 1 型 | Alport Syndrome 1, X-linked | COL4A5 | XL |
289 | X 連鎖 Charcot-Marie-Tooth 病 4 型 | X-linked Charcot-Marie-Tooth Disease 4 | AIFM1 | XL |
290 | X 連鎖 Emery-Dreifuss 肌營養不良 1 型 | X-linked Emery-Dreifuss Muscular Dystrophy 1 | EMD | XL |
291 | X 連鎖備解素缺乏症 | X-Linked Properdin Deficiency | CFP | XL |
292 | X 連鎖低磷酸鹽血症 | X-Linked Hypophosphatemia | PHEX | XL |
293 | X 連鎖黃斑變性萎縮症 | Macular Degeneration, X-Linked Atrophic | RPGR | XL |
294 | X 連鎖肌病伴過度自噬 | X-Linked Myopathy with Excessive Autophagy | VMA21 | XL |
295 | X 連鎖淋巴增殖綜合症 1 型 | X-Linked Lymphoproliferative Syndrome 1 | SH2D1A | XL |
296 | X 連鎖淋巴增殖綜合症 2 型 | X-Linked Lymphoproliferative Syndrome 2 | XIAP | XL |
297 | X 連鎖慢性肉芽腫病 | X-linked Chronic Granulomatous Disease | CYBB | XL |
298 | X 連鎖青年型視網膜劈裂症 | X-Linked Juvenile Retinoschisis | RS1 | XL |
299 | X 連鎖少汗性外胚層發育不良 | X-Linked Hypohidrotic Ectodermal Dysplasia | EDA | XL |
300 | X 連鎖腎上腺腦白質營養不良症 | X-Linked Adrenoleukodystrophy | ABCD1 | XL |
301 | X 連鎖體位性肌肉萎縮肌病 | Myopathy, X-linked, with Postural Muscle Atrophy | FHL1 | XL |
302 | X 連鎖鐵粒幼紅細胞性貧血伴共濟失調 | X-linked Sideroblastic Anemia and Ataxia | ABCB7 | XL |
303 | X 連鎖網狀色素異常症 | X-linked Pigmentary disorder, Reticulate, with Systemic Manifestations | POLA1 | XL |
304 | X 連鎖無腦回畸形 1 型 | X-linked Lissencephaly 1 | DCX | XL |
305 | X 連鎖無腦回畸形 2 型 | X-linked Lissencephaly 2 | ARX | XL |
306 | X 連鎖先天性角化不良 | X-Linked Dyskeratosis Congenita | DKC1 | XL |
307 | X 連鎖先天性腎上腺發育不全 | X-Linked Adrenal Hypoplasia Congenita | NR0B1 | XL |
308 | X 連鎖遺傳眼白化病 | X-Linked Ocular Albinism | GPR143 | XL |
309 | X 連鎖嬰兒型脊肌萎縮症 2 型 | Spinal Muscular atrophy, X-linked 2, Infantile | UBA1 | XL |
310 | X 連鎖智力障礙 | X-linked Mental Retardation | NLGN4X | XL |
311 | X 連鎖智力障礙 12 型 | X-Linked Mental Retardation 12 | THOC2 | XL |
312 | X 連鎖智力障礙 1 型 | X-Linked Mental Retardation 1 | IQSEC2 | XL |
313 | X 連鎖智力障礙 21 型 | X-Linked Mental Retardation 21 | IL1RAPL1 | XL |
314 | X 連鎖智力障礙 30 型 | X-Linked Mental Retardation 30 | PAK3 | XL |
315 | X 連鎖智力障礙 41 型 | X-Linked Mental Retardation 41 | GDI1 | XL |
316 | X 連鎖智力障礙 49 型 | X-Linked Mental Retardation 49 | CLCN4 | XL |
317 | X 連鎖智力障礙 58 型 | X-Linked Mental Retardation 58 | TSPAN7 | XL |
318 | X 連鎖智力障礙 61 型 | X-Linked Mental Retardation 61 | RLIM | XL |
319 | X 連鎖智力障礙 72 型 | X-Linked Mental Retardation 72 | RAB39B | XL |
320 | X 連鎖智力障礙 90 型 | X-Linked Mental Retardation 90 | DLG3 | XL |
321 | X 連鎖智力障礙 93 型 | X-Linked Mental Retardation 93 | BRWD3 | XL |
322 | X 連鎖智力障礙 96 型 | X-Linked Mental Retardation 96 | SYP | XL |
323 | X 連鎖智力障礙 97 型 | X-Linked Mental Retardation 97 | ZNF711 | XL |
324 | X 連鎖智力障礙 98 型 | X-Linked Mental Retardation 98 | NEXMIF | XL |
325 | X 連鎖智力障礙 99 型 | X-Linked Mental Retardation 99 | USP9X | XL |
326 | X 連鎖智力障礙 9 型 | X-Linked Mental Retardation 9 | FTSJ1 | XL |
327 | X 連鎖智力障礙伴小腦發育不全及特殊面容 | X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance | OPHN1 | XL |
328 | X 連鎖智力障礙-低張力面容綜合症 | X-Linked Mental Retardation-Hypotonic Facies Syndrome 1 | ATRX | XL |
329 | X 連鎖中央核肌病 | X-Linked Centronuclear Myopathy | MTM1 | XL |
330 | X 連鎖重症聯合免疫缺陷 | X-Linked Severe Combined Immuno Deficiency | IL2RG | XL |
331 | X 連鎖綜合症型智力障礙 14 型 | X-Linked Syndromic Mental Retardation 14 | UPF3B | XL |
332 | X 連鎖綜合症型智力障礙 15 型 | X-Linked Syndromic Mental Retardation 15 | CUL4B | XL |
333 | X 連鎖綜合症型智力障礙 35 型 | X-Linked Syndromic Mental Retardation 35 | RPL10 | XL |
334 | X 連鎖綜合症型智力障礙 5 型 | X-Linked Syndromic Mental Retardation 5 | AP1S2 | XL |
335 | You-Hoover-Fong 綜合症 | You-Hoover-Fong Syndrome | TELO2 | AR |
336 | Yunis-Varon 綜合症 | Yunis-Varon Syndrome | FIG4 | AR |
337 | α1 抗胰蛋白酶缺乏症 | Alpha1-Antitrypsin Deficiency | SERPINA1 | AR |
338 | α-N-乙醯氨基半乳糖轉移酶缺乏症 | Alpha-N-acetylgalactosaminidase Deficiency | NAGA | AR |
339 | α-地中海貧血 | Alpha-Thalassemia | HBA1, HBA2 | AR |
340 | α-甘露糖苷貯積症 | Alpha-Mannosidosis | MAN2B1 | AR |
341 | β-地中海貧血 | Beta-Thalassemia | HBB | AR |
342 | β-甘露糖苷貯積症 | Beta-Mannosidosis | MANBA | AR |
343 | β-脲基丙酸酶缺乏症 | Beta-Ureidopropionase Deficiency | UPB1 | AR |
344 | β-酮硫酶缺乏症 | Beta-Ketothiolase Deficiency | ACAT1 | AR |
345 | 矮妖精貌綜合症 | Donohue Syndrome | INSR | AR |
346 | 氨甲醯磷酸合成酶 I 缺乏症 | Carbamoylphosphate Synthetase I Deficiency | CPS1 | AR |
347 | 氨醯基脯氨酸酶缺乏症 | Prolidase Deficiency | PEPD | AR |
348 | 白介素-1 受體拮抗劑缺乏症 | Interleukin 1 Receptor Antagonist Deficiency | IL1RN | AR |
349 | 白內障、生長激素缺乏及感覺神經病、感音神經性耳聾及骨胳發育不良 | Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia | IARS2 | AR |
350 | 白內障 18 型 | Cataract 18 | FYCO1 | AR |
351 | 白內障 40 型 | Cataract 40 | NHS | XL |
352 | 白細胞粘附缺陷 1 型 | Leukocyte Adhesion Deficiency Type1 | ITGB2 | AR |
353 | 白細胞粘附缺陷 3 型 | Leukocyte Adhesion Deficiency Type3 | FERMT3 | AR |
354 | 半乳糖激酶缺乏症 | Galactokinase Deficiency | GALK1 | AR |
355 | 半乳糖唾液酸貯積症 | Galactosialidosis | CTSA | AR |
356 | 半乳糖血症 | Galactosemia | GALT | AR |
357 | 伴睾丸發育不全的嬰兒猝死綜合症 | Sudden Infant Death With Dysgenesis Of The Testes Syndrome | TSPYL1 | AR |
358 | 伴關節鬆弛的脊椎骨骺發育不良伴或不 伴骨折 1 型 | Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type1, With Or Without Fractures | B3GALT6 | AR |
359 | 鮑恩-康拉迪綜合症 | Bowen-Conradi Syndrome | EMG1 | AR |
360 | 苯丙酮尿症 | Phenylketonuria | PAH | AR |
361 | 鼻裂伴或不伴肛門直腸與腎畸形 | Bifid Nose With Or Without Anorectal And Renal Anomalies | FREM1 | AR |
362 | 吡哆醇不敏感型鐵粒幼紅細胞性貧血 2 型 | Pyridoxine-Refractory Sideroblastic Anemia 2 | SLC25A38 | AR |
363 | 吡哆醇依賴性癲癇 | Pyridoxine-Dependent Epilepsy | ALDH7A1 | AR |
364 | 表皮松解角化過度症 | Epidermolytic Hyperkeratosis | KRT10 | AR |
365 | 丙二醯-CoA 脫羧酶缺乏症 | Malonyl-Coa Decarboxylase Deficiency | MLYCD | AR |
366 | 丙酸血症 | Propionicacidemia | PCCA, PCCB | AR |
367 | 丙酮酸激酶缺乏症 | Pyruvate Kinase Deficiency | PKLR | AR |
368 | 丙酮酸羧化酶缺乏症 | Pyruvate Carboxylase Deficiency | PC | AR |
369 | 丙酮酸脫氫酶 E1-α缺乏症 | Pyruvate Dehydrogenase E1-alpha Deficiency | PDHA1 | XL |
370 | 丙酮酸脫氫酶 E1-β缺乏症 | Pyruvate Dehydrogenase E1-Beta Deficiency | PDHB | AR |
371 | 丙酮酸脫氫酶磷酸酶缺乏症 | Pyruvate Dehydrogenase Phosphatase Deficiency | PDP1 | AR |
372 | 丙酮酸脫氫酶硫辛酸合成酶缺乏症 | Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency | LIAS | AR |
373 | 補體 C1q 缺乏症 | C1q Deficiency | C1QA,C1QB, C1QC | AR |
374 | 補體過度激活、血管病性血栓形成和蛋 白質丟失性腸病 | Complement Hyperactivation, Angiopathic Thrombosis, and Protein-losing Enteropathy | CD55 | AR |
375 | 補體因子 I 缺乏症 | Complement Factor I Deficiency | CFI | AR |
376 | 差向異構酶缺乏性半乳糖血症 | Epimerase Deficiency Galactosemia | GALE | AR |
377 | 腸源性低鎂血症 1 型 | Hypomagnesemia 1, Intestinal | TRPM6 | AR |
378 | 常見變異型免疫缺陷症 1 型 | Common Variable Immune Deficiency 1 | ICOS | AR |
379 | 常見變異型免疫缺陷症 2 型 | Common Variable Immune Deficiency 2 | TNFRSF13B | AR |
380 | 常見變異型免疫缺陷症 6 型 | Common Variable Immune Deficiency 6 | CD81 | AR |
381 | 常見變異型免疫缺陷症 8 型伴自身免疫 | Common Variable Immune Deficiency 8 with Autoimmunity | LRBA | AR |
382 | 常染色體痙攣性截癱 30 型 | Autosomal Spastic Paraplegia 30 | KIF1A | AR |
383 | 常染色體先天性角化不良 5 型/4 型 | Autosomal Dyskeratosis Congenita 5/4 | RTEL1 | AR |
384 | 常染色體隱性 Alport 綜合症 2 型 | Alport Syndrome 2, Autosomal Recessive | COL4A3, COL4A4 | AR |
385 | 常染色體隱性 Robinow 綜合症 | Autosomal Recessive Robinow Syndrome | ROR2 | AR |
386 | 常染色體隱性 T-、B+、NK-重型聯合免疫缺陷症 | Autosomal Recessive T Cell-Negative, B Cell-Positive, NK Cell-Negative Severe Combined Immuno Deficiency | JAK3 | AR |
387 | 常染色體隱性持續增生性原始玻璃體 | Autosomal Recessive Persistent Hyperplastic Primary Vitreous | ATOH7 | AR |
388 | 常染色體隱性單純性大疱性表皮松解症 1 型 | Autosomal Recessive Epidermolysis Bullosa Simplex 1 | KRT14,KRT 5 | AR |
389 | 常染色體隱性蛋白 C 缺乏性血栓形成傾 向 | Autosomal recessive Thrombophilia due to Protein C Deficiency | PROC | AR |
390 | 常染色體隱性蛋白 S 缺乏性血栓形成傾 向 | Autosomal recessive Thrombophilia due to protein S Deficiency | PROS1 | AR |
391 | 常染色體隱性耳聾 1A 型 | Autosomal Recessive Deafness 1A | GJB2 | AR |
392 | 常染色體隱性耳聾 3 型 | Autosomal Recessive Deafness 3 | MYO15A | AR |
393 | 常染色體隱性耳聾 4 型 | Autosomal Recessive Deafness 4, with Enlarged Vestibular Aqueduct | SLC26A4 | AR |
394 | 常染色體隱性耳聾 7 型 | Autosomal Recessive Deafness 7 | TMC1 | AR |
395 | 常染色體隱性耳聾 8&10 型 | Autosomal Recessive Deafness 8/10 | TMPRSS3 | AR |
396 | 常染色體隱性耳聾 9 型 | Autosomal Recessive Deafness 9 | OTOF | AR |
397 | 常染色體隱性骨硬化症 1 型 | Autosomal Recessive Osteopetrosis 1 | TCIRG1 | AR |
398 | 常染色體隱性骨硬化症 2 型 | Autosomal Recessive Osteopetrosis 2 | TNFSF11 | AR |
399 | 常染色體隱性骨硬化症 3 型 | Autosomal Recessive Osteopetrosis 3 | CA2 | AR |
400 | 常染色體隱性骨硬化症 4 型 | Autosomal Recessive Osteopetrosis 4 | CLCN7 | AR |
401 | 常染色體隱性骨硬化症 5 型 | Autosomal Recessive Osteopetrosis 5 | OSTM1 | AR |
402 | 常染色體隱性骨硬化症 7 型 | Autosomal Recessive Osteopetrosis 7 | TNFRSF11 A | AR |
403 | 常染色體隱性脊髓小腦共濟失調 10 型 | Autosomal Recessive Spinocerebellar Ataxia 10 | ANO10 | AR |
404 | 常染色體隱性脊髓小腦共濟失調 13 型 | Autosomal Recessive Spinocerebellar Ataxia 13 | GRM1 | AR |
405 | 常染色體隱性脊髓小腦共濟失調 16 型 | Autosomal Recessive Spinocerebellar Ataxia 16 | STUB1 | AR |
406 | 常染色體隱性脊髓小腦共濟失調 1 型 | Autosomal Recessive Spinocerebellar Ataxia 1 | SETX | AR |
407 | 常染色體隱性脊髓小腦性共濟失調 20 型 | Autosomal Recessive Spinocerebellar Ataxia 20 | SNX14 | AR |
408 | 常染色體隱性脊髓小腦性共濟失調 21 型 | Autosomal Recessive Spinocerebellar Ataxia 21 | SCYL1 | AR |
409 | 常染色體隱性脊髓小腦性共濟失調 2 型 | Autosomal Recessive Spinocerebellar Ataxia 2 | PMPCA | AR |
410 | 常染色體隱性痙攣性截癱 11 型 | Autosomal Recessive Spastic Paraplegia Type11 | SPG11 | AR |
411 | 常染色體隱性痙攣性截癱 15 型 | Autosomal Recessive Spastic Paraplegia 15 | ZFYVE26 | AR |
412 | 常染色體隱性痙攣性截癱 20 型 | Autosomal Recessive Spastic Paraplegia 20 | SPART | AR |
413 | 常染色體隱性痙攣性截癱 23 型 | Autosomal Recessive Spastic Paraplegia 23 | DSTYK | AR |
414 | 常染色體隱性痙攣性截癱 26 型 | Autosomal Recessive Spastic Paraplegia 26 | B4GALNT1 | AR |
415 | 常染色體隱性痙攣性截癱 35 型 | Autosomal Recessive Spastic Paraplegia 35 | FA2H | AR |
416 | 常染色體隱性痙攣性截癱 45 型 | Autosomal Recessive Spastic Paraplegia 45 | NT5C2 | AR |
417 | 常染色體隱性痙攣性截癱 46 型 | Autosomal Recessive Spastic Paraplegia 46 | GBA2 | AR |
418 | 常染色體隱性痙攣性截癱 47 型 | Autosomal Recessive Spastic Paraplegia 47 | AP4B1 | AR |
419 | 常染色體隱性痙攣性截癱 50 型 | Autosomal Recessive Spastic Paraplegia 50 | AP4M1 | AR |
420 | 常染色體隱性痙攣性截癱 52 型 | Autosomal Recessive Spastic Paraplegia 52 | AP4S1 | AR |
421 | 常染色體隱性痙攣性截癱 53 型 | Autosomal Recessive Spastic Paraplegia 53 | VPS37A | AR |
422 | 常染色體隱性痙攣性截癱 54 型 | Autosomal Recessive Spastic Paraplegia 54 | DDHD2 | AR |
423 | 常染色體隱性痙攣性截癱 56 型 | Autosomal Recessive Spastic Paraplegia 56 | CYP2U1 | AR |
424 | 常染色體隱性痙攣性截癱 9B 型 | Autosomal Recessive Spastic Paraplegia 9B | ALDH18A1 | AR |
425 | 常染色體隱性皮膚鬆弛症 1A 型 | Autosomal Recessive Cutis Laxa Type1A | FBLN5 | AR |
426 | 常染色體隱性皮膚鬆弛症 1B 型 | Autosomal Recessive Cutis Laxa Type1B | EFEMP2 | AR |
427 | 常染色體隱性皮膚鬆弛症 1C 型 | Autosomal Recessive Cutis Laxa Type1C | LTBP4 | AR |
428 | 常染色體隱性皮膚鬆弛症 2A 型 | Autosomal Recessive Cutis Laxa Type2A | ATP6V0A2 | AR |
429 | 常染色體隱性皮膚鬆弛症 2B 型 | Autosomal Recessive Cutis Laxa Type2B | PYCR1 | AR |
430 | 常染色體隱性細胞色素 B 陽性慢性肉芽腫病 1 型 | Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I | NCF1 | AR |
431 | 常染色體隱性細胞色素 B 陽性慢性肉芽腫病 2 型 | Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type II | NCF2 | AR |
432 | 常染色體隱性細胞色素 B 陰性慢性肉芽腫病 | Autosomal Recessive Cytochrome B-Negative Chronic Granulomatous Disease | CYBA | AR |
433 | 常染色體隱性先天性肌强直 | Autosomal Recessive Myotonia Congenita | CLCN1 | AR |
434 | 常染色體隱性先天性角化不良 3 型 | Autosomal Recessive Dyskeratosis Congenita 3 | WRAP53 | AR |
435 | 常染色體隱性小頭畸形伴脉絡膜視網膜病變 1 型 | Autosomal Recessive Microcephaly and Chorioretinopathy 1 | TUBGCP6 | AR |
436 | 常染色體隱性小頭畸形伴脉絡膜視網膜病變 3 型 | Autosomal Recessive Microcephaly and Chorioretinopathy 3 | TUBGCP4 | AR |
437 | 常染色體隱性遺傳痙攣性共濟失調 8 型伴低髓鞘化腦白質營養不良 | Autosomal Recessive Spastic Ataxia 8 with Hypomyelinating Leukodystrophy | NKX6-2 | AR |
438 | 常染色體隱性遺傳沙勒瓦薩格奈痙攣性共濟失調 | Autosomal Recessive Spastic Ataxia of Charlevoix – Saguenay | SACS | AR |
439 | 常染色體隱性遺傳性魚鱗病 1 型 | Autosomal Recessive Congenital Ichthyosis 1 | TGM1 | AR |
440 | 常染色體隱性遺傳性魚鱗病 4A 型 | Autosomal Recessive Congenital Ichthyosis 4A | ABCA12 | AR |
441 | 常染色體隱性遺傳性魚鱗病 4B 型 | Autosomal Recessive Congenital Ichthyosis 4B | ABCA12 | AR |
442 | 常染色體隱性遺傳性魚鱗病 5 型 | Autosomal Recessive Congenital Ichthyosis 5 | CYP4F22 | AR |
443 | 常染色體隱性遺傳性魚鱗病 6 型 | Autosomal Recessive Congenital Ichthyosis 6 | NIPAL4 | AR |
444 | 常染色體隱性遺傳性魚鱗病 9 型 | Autosomal Recessive Congenital Ichthyosis 9 | CERS3 | AR |
445 | 常染色體隱性營養不良性大疱性表皮松解 | Autosomal Recessive Epidermolysis Bullosa Dystrophica | COL7A1 | AR |
446 | 常染色體隱性原發性肥大性骨關節病 1 型 | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 | HPGD | AR |
447 | 常染色體隱性遠端脊肌萎縮症 1 型 | Autosomal Recessive Distal Spinal Muscular Atrophy 1 | IGHMBP2 | AR |
448 | 常染色體隱性智力發育障礙 18 型伴或 不伴癲癇 | Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy | MED23 | AR |
449 | 常染色體隱性智力發育障礙 27 型 | Intellectual developmental disorder, autosomal recessive 27 | LINS1 | AR |
450 | 常染色體隱性智力發育障礙 38 型 | Intellectual developmental disorder, autosomal recessive 38 | HERC2 | AR |
451 | 常染色體隱性智力發育障礙 57 型 | Intellectual developmental disorder, autosomal recessive 57 | MBOAT7 | AR |
452 | 常染色體隱性智力障礙 13 型 | Autosomal Recessive Mental Retardation 13 | TRAPPC9 | AR |
453 | 常染色體隱性智力障礙 15 型 | Autosomal Recessive Mental Retardation 15 | MAN1B1 | AR |
454 | 常染色體隱性智力障礙 36 型 | Autosomal Recessive Mental Retardation 36 | ADAT3 | AR |
455 | 常染色體隱性智力障礙 39 型 | Autosomal Recessive Mental Retardation 39 | TTI2 | AR |
456 | 常染色體隱性智力障礙 3 型 | Autosomal Recessive Mental Retardation 3 | CC2D1A | AR |
457 | 常染色體隱性智力障礙 41 型 | Autosomal Recessive Mental Retardation 41 | KPTN | AR |
458 | 常染色體隱性智力障礙 42 型 | Autosomal Recessive Mental Retardation 42 | PGAP1 | AR |
459 | 常染色體隱性智力障礙 44 型 | Autosomal Recessive Mental Retardation 44 | METTL23 | AR |
460 | 常染色體隱性智力障礙 49 型 | Autosomal Recessive Mental Retardation 49 | GPT2 | AR |
461 | 常染色體隱性智力障礙 58 型 | Autosomal Recessive Mental Retardation 58 | ELP2 | AR |
462 | 常染色體隱性智力障礙 5 型 | Autosomal Recessive Mental Retardation 5 | NSUN2 | AR |
463 | 常染色體隱性智力障礙 7 型 | Autosomal Recessive Mental Retardation 7 | TUSC3 | AR |
464 | 常染色體隱性重型聯合免疫缺陷症,B 細胞陰性 | Severe Combined Immuno Deficiency, B Cell-negative | RAG1, RAG2 | AR |
465 | 成骨不全 15 型 | Osteogenesis Imperfecta TypeXV | WNT1 | AR |
466 | 成骨不全 6 型 | Osteogenesis Imperfecta TypeVI | SERPINF1 | AR |
467 | 成骨不全 8 型 | Osteogenesis Imperfecta TypeVIII | P3H1 | AR |
468 | 成骨不全 X 型 | Osteogenesis imperfecta, TypeX | SERPINH1 | AR |
469 | 弛緩不能-腎上腺缺失-無泪綜合症 | Achalasia-Addisonianism-Alacrima Syndrome | AAAS | AR |
470 | 出生後進行性小頭畸形伴癲癇發作和腦萎縮 | Postnatal Progressive Microcephaly With Seizures And Brain Atrophy | MED17 | AR |
471 | 出血性腦損傷、室管膜下鈣化伴白內障 | Hemorrhagic Destruction of the Brain, Subependymal Calcification and Cataracts | JAM3 | AR |
472 | 唇裂/腭裂-外胚層發育不良綜合症 | Cleft lip/palate-ectodermal Dysplasia Syndrome | NECTIN1 | AR |
473 | 促腎上腺皮質激素缺乏症 | Adrenocorticotropic hormone Deficiency | TBX19 | AR |
474 | 大腦葉酸轉運障礙性神經退行性病 | Neurodegeneration due to Cerebral Folate Transport Deficiency | FOLR1 | AR |
475 | 大疱性表皮松解伴幽門閉鎖 | Epidermolysis Bullosa with Pyloric Atresia | ITGB4,ITG A6 | AR |
476 | 大頭畸形、脫髮、皮膚鬆馳及脊柱側凸綜合症 (MACS 綜合症) | Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis(MACS Syndrome) | RIN2 | AR |
477 | 帶狀鈣化伴簡化性迂回伴多小腦回畸形 | Band-Like Calcification with Simplified Gyration and Polymicrogyria | OCLN | AR |
478 | 帶狀灰質異位 | Band Heterotopia | EML1 | AR |
479 | 單純性大疱性表皮松解伴幽門閉鎖 | Epidermolysis Bullosa Simplex with Pyloric Atresia | PLEC | AR |
480 | 單純性小眼畸形 8 型 | Isolated Microphthalmia 8 | ALDH1A3 | AR |
481 | 單羧酸轉運蛋白 1 缺乏症 | Monocarboxylate Transporter 1 Deficiency | SLC16A1 | AR |
482 | 蛋白酶相關自身炎症反應綜合症 1 型 | Proteasome-Associated Autoinflammatory Syndrome 1 | PSMB8 | AR |
483 | 低促性腺激素性性腺功能减退症 1 型伴或不伴嗅覺喪失(Kallmann 綜合症 1 型) | Hypogonadotropic Hypogonadism 1 with or without Anosmia (Kallmann Syndrome 1) | ANOS1 | XL |
484 | 低髓鞘化腦白質營養不良 10 型 | Hypomyelinating Leukodystrophy 10 | PYCR2 | AR |
485 | 低髓鞘化腦白質營養不良 12 型 | Hypomyelinating Leukodystrophy 12 | VPS11 | AR |
486 | 低髓鞘化腦白質營養不良 14 型 | Hypomyelinating Leukodystrophy 14 | UFM1 | AR |
487 | 低髓鞘化腦白質營養不良 3 型 | Hypomyelinating Leukodystrophy 3 | AIMP1 | AR |
488 | 低髓鞘化腦白質營養不良 4 型 | Hypomyelinating Leukodystrophy 4 | HSPD1 | AR |
489 | 低髓鞘化腦白質營養不良 5 型 | Hypomyelinating Leukodystrophy 5 | FAM126A | AR |
490 | 低髓鞘化腦白質營養不良 7 型伴或不伴少牙畸形 和(或)低促性腺素性功能减退症 | Hypomyelinating Leukodystrophy 7 with or without Oligodontia and/or Hypogonadotropic Hypogonadism | POLR3A | AR |
491 | 低髓鞘化腦白質營養不良 8 型 | Hypomyelinating Leukodystrophy 8 | POLR3B | AR |
492 | 癲癇、耳聾及智力障礙綜合症 | Epilepsy, Hearing Loss, And Mental Retardation Syndrome | SPATA5 | AR |
493 | 癲癇伴變異型學習及行爲障礙 | Epilepsy with Variable Learning Disabilities and Behavior Disorders | SYN1 | XL |
494 | 癲癇發作-感音神經性耳聾-共濟失調-視網膜色素 變性-智力障礙-電解質失衡綜合症 | Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome | KCNJ10 | AR |
495 | 動脉迂曲綜合症 | Arterial tortuosity Syndrome | SLC2A10 | AR |
496 | 短肋胸廓發育不良伴多指綜合症 14 型 | Short-Rib Thoracic Dysplasia 14 With Polydactyly | KIAA0586 | AR |
497 | 短肋胸廓發育不良伴多指綜合症 15 型 | Short-rib Thoracic Dysplasia 15 with Polydactyly | DYNC2LI1 | AR |
498 | 短肋胸廓發育不良伴或不伴多指綜合症 10 型 | Short-rib Thoracic Dysplasia 10 with or without Polydactyly | IFT172 | AR |
499 | 短肋胸廓發育不良伴或不伴多指綜合症 11 型 | Short-rib Thoracic Dysplasia 11 with or without Polydactyly | DYNC2I2 | AR |
500 | 短肋胸廓發育不良伴或不伴多指綜合症 13 型 | Short-rib Thoracic Dysplasia 13 with or without Polydactyly | CEP120 | AR |
501 | 短肋胸廓發育不良伴或不伴多指綜合症 2 型 | Short-rib Thoracic Dysplasia 2 with or without Polydactyly | IFT80 | AR |
502 | 短肋胸廓發育不良伴或不伴多指綜合症 3 型 | Short-rib Thoracic Dysplasia 3 with or without Polydactyly | DYNC2H1 | AR |
503 | 短肋胸廓發育不良伴或不伴多指綜合症 4 型 | Short-rib Thoracic Dysplasia 4 with or without Polydactyly | TTC21B | AR |
504 | 短肋胸廓發育不良伴或不伴多指綜合症 6 型 | Short-rib Thoracic Dysplasia 6 with or without Polydactyly | NEK1 | AR |
505 | 短肋胸廓發育不良伴或不伴多指綜合症 7 型 | Short-rib Thoracic Dysplasia 7 with or without Polydactyly | WDR35 | AR |
506 | 短肋胸廓發育不良伴或不伴多指綜合症 8 型 | Short-rib Thoracic Dysplasia 8 with or without Polydactyly | DYNC2I1 | AR |
507 | 短肋胸廓發育不良伴或不伴多指綜合症 9 型 | Short-rib Thoracic Dysplasia 9 with or Without Polydactyly | IFT140 | AR |
508 | 短肢、小頭畸形和內分泌功能異常 | Short Stature, Microcephaly, And Endocrine Dysfunction | XRCC4 | AR |
509 | 多發性骨骺發育不良伴早發糖尿病 | Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus | EIF2AK3 | AR |
510 | 多發性骨溶解、結節病及關節病 | Multicentric Osteolysis, Nodulosis, and Arthropathy | MMP2 | AR |
511 | 多發性關節脫位、身材矮小和顱面畸形伴或不伴 先天性心臟缺陷 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | B3GAT3 | AR |
512 | 多發性硫酸脂酶缺乏症 | Multiple Sulfatase Deficiency | SUMF1 | AR |
513 | 多發性先天性畸形-張力减退-癲癇綜合症 1 型 | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 | PIGN | AR |
514 | 多發性先天性畸形-張力减退-癲癇綜合症 3 型 | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 | PIGT | AR |
515 | 多發性翼狀膜綜合症 | Multiple Pterygium Syndrome, Escobar variant | CHRNG | AR |
516 | 多發致死性翼狀胬肉綜合症 | Multiple Pterygium Syndrome, Lethal Type | CHRNA1 | AR |
517 | 多囊腎病 4 型伴或不伴多囊肝 | Polycystic Kidney Disease 4 with or without Polycystic Liver Disease | PKHD1 | AR |
518 | 多微小軸空病 | Multiminicore Disease | RYR1 | AR |
519 | 多系統自身免疫病伴面部畸形 | Multisystem Autoimmune Disease With Facial Dysmorphism | ITCH | AR |
520 | 多綫粒體功能障礙綜合症 1 型 | Multiple Mitochondrial Dysfunctions Syndrome 1 | NFU1 | AR |
521 | 多綫粒體功能障礙綜合症 2 型 | Multiple Mitochondrial Dysfunctions Syndrome 2 | BOLA3 | AR |
522 | 多綫粒體功能障礙綜合症 3 型 | Multiple Mitochondrial Dysfunctions Syndrome 3 | IBA57 | AR |
523 | 多綫粒體功能障礙綜合症 4 型 | Multiple Mitochondrial Dysfunctions Syndrome 4 | ISCA2 | AR |
524 | 多小腦回畸形伴癲癇發作 | Polymicrogyria with Seizures | RTTN | AR |
525 | 兒茶酚胺敏感性多形性室性心動過速 2 型 | Catecholaminergic Polymorphic Ventricular Tachycardia 2 | CASQ2 | AR |
526 | 兒茶酚胺敏感性多形性室性心動過速 5 型伴或不伴肌無力 | Catecholaminergic Polymorphic Ventricular Tachycardia 5, with or without muscle weakness | TRDN | AR |
527 | 兒童期發病的結節性多動脉炎 | Childhood-Onset Polyarteritis Nodosa | ADA2 | AR |
528 | 兒童型低磷酸酯酶症 | Hypophosphatasia, Childhood | ALPL | AR |
529 | 兒童型神經退行性病變伴共濟失調、肌張力障礙、凝視麻痹 | Childhood-onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy | SQSTM1 | AR |
530 | 發育遲緩伴短肢、畸形特徵和頭髮稀疏 | Developmental Delay With Short Stature, Dysmorphic Features, and Sparse Hair | DPH1 | AR |
531 | 發育延遲、禿髮、埋伏牙及視神經萎縮綜合症 | GAPO Syndrome | ANTXR1 | AR |
532 | 法國-加拿大型 Leigh 綜合症 | Leigh Syndrome, French-Canadian Type | LRPPRC | AR |
533 | 反復發作代謝性腦肌病伴橫紋肌溶解-心律失常-神經變性 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | TANGO2 | AR |
534 | 範可尼貧血互補群 A | Fanconi anemia, complementation Group A | FANCA | AR |
535 | 範可尼貧血互補群 B | Fanconi anemia, complementation Group B | FANCB | XL |
536 | 範可尼貧血互補群 C | Fanconi anemia, complementation Group C | FANCC | AR |
537 | 範可尼貧血互補群 D2 | Fanconi anemia, complementation Group D2 | FANCD2 | AR |
538 | 範可尼貧血互補群 E | Fanconi anemia, complementation Group E | FANCE | AR |
539 | 範可尼貧血互補群 F | Fanconi anemia, complementation Group F | FANCF | AR |
540 | 範可尼貧血互補群 G | Fanconi anemia, complementation Group G | FANCG | AR |
541 | 範可尼貧血互補群 I | Fanconi anemia, complementation Group I | FANCI | AR |
542 | 範可尼貧血互補群 L | Fanconi anemia, complementation Group L | FANCL | AR |
543 | 範可尼貧血互補群 Q | Fanconi anemia, complementation Group Q | ERCC4 | AR |
544 | 範可尼貧血互補群 T | Fanconi anemia, complementation Group T | UBE2T | AR |
545 | 非 Herlitz 型交界型大疱性表皮松解 | Non-Herlitz TypeJunctional Epidermolysis Bullosa | COL17A1 | AR |
546 | 非光敏感性毛髮低硫營養不良綜合症 4 型 | Nonphotosensitive Trichothiodystrophy 4 | MPLKIP | AR |
547 | 肺表面活性劑功能障礙 1 型 | Pulmonary Surfactant Metabolism Dysfunction 1 | SFTPB | AR |
548 | 肺表面活性劑功能障礙 3 型 | Pulmonary Surfactant Metabolism Dysfunction 3 | ABCA3 | AR |
549 | 肺靜脉閉塞病 2 型 | Pulmonary Venoocclusive Disease 2 | EIF2AK4 | AR |
550 | 楓糖尿病 1A 型 | Maple Syrup Urine Disease Type1A | BCKDHA | AR |
551 | 楓糖尿病 1B 型 | Maple Syrup Urine Disease Type1B | BCKDHB | AR |
552 | 楓糖尿病 2 型 | Maple Syrup Urine Disease, Type2 | DBT | AR |
553 | 楓糖尿病 3 型 | Maple Syrup Urine Disease Type3 | DLD | AR |
554 | 複合型氧化磷酸化缺陷症 10 型 | Combined Oxidative Phosphorylation Deficiency 10 | MTO1 | AR |
555 | 複合型氧化磷酸化缺陷症 11 型 | Combined Oxidative Phosphorylation Deficiency 11 | RMND1 | AR |
556 | 複合型氧化磷酸化缺陷症 12 型 | Combined Oxidative Phosphorylation Deficiency 12 | EARS2 | AR |
557 | 複合型氧化磷酸化缺陷症 14 型 | Combined Oxidative Phosphorylation Deficiency 14 | FARS2 | AR |
558 | 複合型氧化磷酸化缺陷症 15 型 | Combined Oxidative Phosphorylation Deficiency 15 | MTFMT | AR |
559 | 複合型氧化磷酸化缺陷症 17 型 | Combined Oxidative Phosphorylation Deficiency 17 | ELAC2 | AR |
560 | 複合型氧化磷酸化缺陷症 1 型 | Combined Oxidative Phosphorylation Deficiency 1 | GFM1 | AR |
561 | 複合型氧化磷酸化缺陷症 20 型 | Combined Oxidative Phosphorylation Deficiency 20 | VARS2 | AR |
562 | 複合型氧化磷酸化缺陷症 23 型 | Combined Oxidative Phosphorylation Deficiency 23 | GTPBP3 | AR |
563 | 複合型氧化磷酸化缺陷症 24 型 | Combined Oxidative Phosphorylation Deficiency 24 | NARS2 | AR |
564 | 複合型氧化磷酸化缺陷症 27 型 | Combined Oxidative Phosphorylation Deficiency 27 | CARS2 | AR |
565 | 複合型氧化磷酸化缺陷症 35 型 | Combined Oxidative Phosphorylation Deficiency 35 | TRIT1 | AR |
566 | 複合型氧化磷酸化缺陷症 3 型 | Combined Oxidative Phosphorylation Deficiency 3 | TSFM | AR |
567 | 複合型氧化磷酸化缺陷症 4 型 | Combined Oxidative Phosphorylation Deficiency 4 | TUFM | AR |
568 | 複合型氧化磷酸化缺陷症 7 型 | Combined Oxidative Phosphorylation Deficiency 7 | MTRFR | AR |
569 | 複合型氧化磷酸化缺陷症 8 型 | Combined Oxidative Phosphorylation Deficiency 8 | AARS2 | AR |
570 | 腹瀉 5 型伴先天性腸病 | Diarrhea 5 With Congenital Tufting Enteropathy | EPCAM | AR |
571 | 腹瀉 7 型 | Diarrhea 7 | DGAT1 | AR |
572 | 腹瀉伴微絨毛萎縮 2 型 | Diarrhea with Microvillus Atrophy 2 | MYO5B | AR |
573 | 甘氨酸腦病 | Glycine Encephalopathy | AMT, GLDC | AR |
574 | 甘油激酶缺乏症 | Glycerol Kinase Deficiency | GK | XL |
575 | 杆狀體肌病 10 型 | Nemaline Myopathy 10 | LMOD3 | AR |
576 | 杆狀體肌病 1 型 | Nemaline Myopathy 1 | TPM3 | AR |
577 | 杆狀體肌病 2 型 | Nemaline Myopathy 2 | NEB | AR |
578 | 杆狀體肌病 5 型 | Nemaline Myopathy 5 | TNNT1 | AR |
579 | 杆狀體肌病 7 型 | Nemaline Myopathy 7 | CFL2 | AR |
580 | 杆狀體肌病 8 型 | Nemaline Myopathy 8 | KLHL40 | AR |
581 | 杆狀體肌病 9 型 | Nemaline Myopathy 9 | KLHL41 | AR |
582 | 肝豆狀核變性 | Wilson Disease | ATP7B | AR |
583 | 肝靜脉梗阻症伴免疫缺陷 | Hepatic Veno-Occlusive Disease with ImmunoDeficiency | SP110 | AR |
584 | 高 IgE 綜合症 | Hyper IgE Syndrome | DOCK8 | AR |
585 | 高胱氨酸尿症伴巨幼紅細胞貧血 cblG 型 | Homocystinuria-Megaloblastic Anemia cblG type | MTR | AR |
586 | 高磷酸脂症伴智力障礙 1 型 | Hyperphosphatasia with Mental Retardation Syndrome 1 | PIGV | AR |
587 | 高磷酸脂症伴智力障礙 2 型 | Hyperphosphatasia with Mental Retardation Syndrome 2 | PIGO | AR |
588 | 高磷酸脂症伴智力障礙 3 型 | Hyperphosphatasia with Mental Retardation Syndrome 3 | PGAP2 | AR |
589 | 高磷酸脂症伴智力障礙 4 型 | Hyperphosphatasia with Mental Retardation Syndrome 4 | PGAP3 | AR |
590 | 高錳血症伴肌張力失調 1 型 | Hypermanganesemia With Dystonia 1 | SLC30A10 | AR |
591 | 高錳血症伴肌張力失調 2 型 | Hypermanganesemia with dystonia 2 | SLC39A14 | AR |
592 | 高鳥氨酸血症-高氨血症-同型瓜氨酸尿症 | Hyperornithinemia-Hyperammonemia-Homocitrul linuria Syndrome | SLC25A15 | AR |
593 | 高尿酸血症、肺性高血壓、腎衰竭和碱中毒綜合症 | Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome | SARS2 | AR |
594 | 高脯胺酸血症 1 型 | Hyperprolinemia TypeI | PRODH | AR |
595 | 高鐵血紅蛋白還原酶缺乏性高鐵血紅蛋白血症 | Methemoglobinemia Due to Deficiency of Methemoglobin Reductase | CYB5R3 | AR |
596 | 共濟失調伴動眼不能 1 型 | Ataxia with Oculomotor Apraxia Type1 | APTX | AR |
597 | 共濟失調伴維生素 E 缺乏症 | Ataxia with vitamin E Deficiency | TTPA | AR |
598 | 共濟失調性毛細血管擴張樣病 1 型 | Ataxia-Telangiectasia-Like Disorder 1 | MRE11 | AR |
599 | 共濟失調性毛細血管擴張症 | Ataxia-telangiectasia | ATM | AR |
600 | 孤立型小眼畸形 3 | Microphthalmia, Isolated 3 | RAX | AR |
601 | 谷氨酸亞胺基甲基轉移酶缺乏症 | Glutamate Formiminotransferase Deficiency | FTCD | AR |
602 | 穀固醇血症 | Sitosterolemia | ABCG5, ABCG8 | AR |
603 | 谷胱甘肽合成酶缺乏症 | Glutathione Synthetase Deficiency | GSS | AR |
604 | 骨髓衰竭綜合症 2 型 | Bone Marrow Failure Syndrome 2 | ERCC6L2 | AR |
605 | 骨髓衰竭綜合症 3 型 | Bone Marrow Failure Syndrome 3 | DNAJC21 | AR |
606 | 骨硬化性狹窄 1 型 | Sclerosteosis 1 | SOST | AR |
607 | 骨質疏鬆症-假神經膠質瘤綜合症 | Osteoporosis-pseudoglioma Syndrome | LRP5 | AR |
608 | 瓜氨酸血症 1 型 | Citrullinemia | ASS1 | AR |
609 | 胍乙酸轉甲基酶缺乏症 | Cerebral Creatine Deficiency Syndrome 2 | GAMT | AR |
610 | 關節攣縮、腎功能不全及膽汁淤積綜合 症 1 型 | Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 | VPS33B | AR |
611 | 關節攣縮、腎功能不全及膽汁淤積綜合症 2 型 | Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2 | VIPAS39 | AR |
612 | 關節攣縮、智力障礙和癲癇發作 | Arthrogryposis, Mental Retardation and Seizures | SLC35A3 | AR |
613 | 光敏感性毛髮低硫營養不良綜合症 3 型 | Photosensitive Trichothiodystrophy 3 | GTF2H5 | AR |
614 | 胱硫醚β合成酶缺乏性高胱氨酸尿症 | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | CBS | AR |
615 | 果糖-1,6-二磷酸酶缺乏症 | Fructose 1,6 Bisphosphatase Deficiency | FBP1 | AR |
616 | 過氧化物酶體生物合成障礙 10A 型 | Peroxisome Biogenesis Disorder 10A | PEX3 | AR |
617 | 過氧化物酶體生物合成障礙 11A 型 | Peroxisome Biogenesis Disorder 11A | PEX13 | AR |
618 | 過氧化物酶體生物合成障礙 14B 型 | Peroxisome Biogenesis Disorder 14B | PEX11B | AR |
619 | 過氧化物酶體生物合成障礙 1A 型 | Peroxisome Biogenesis Disorder 1A(Zellweger) | PEX1 | AR |
620 | 過氧化物酶體生物合成障礙 2A 型 | Peroxisome Biogenesis Disorder 2A | PEX5 | AR |
621 | 過氧化物酶體生物合成障礙 3A 型 | Peroxisome Biogenesis Disorder 3A(Zellweger) | PEX12 | AR |
622 | 過氧化物酶體生物合成障礙 4A 型 | Peroxisome Biogenesis Disorder 4A | PEX6 | AR |
623 | 過氧化物酶體生物合成障礙 5A 型 | Peroxisome Biogenesis Disorder 5A | PEX2 | AR |
624 | 過氧化物酶體生物合成障礙 6A 型 | Peroxisome Biogenesis Disorder 6A(Zellweger) | PEX10 | AR |
625 | 過氧化物酶體生物合成障礙 7A 型 | Peroxisome Biogenesis Disorder 7A | PEX26 | AR |
626 | 過氧化物酶體生物合成障礙 8A 型 | Peroxisome Biogenesis Disorder 8A(Zellweger) | PEX16 | AR |
627 | 過氧化物酶醯基輔酶 A 氧化酶缺乏症 | Peroxisomal Acyl-CoA Oxidase Deficiency | ACOX1 | AR |
628 | 頜骨顔面發育不全綜合症 3 型 | Treacher Collins Syndrome 3 | POLR1C | AR |
629 | 後柱共濟失調伴色素性視網膜炎 | Ataxia, Posterior Column, with Retinitis Pigmentosa | FLVCR1 | AR |
630 | 琥珀酸半醛脫氫酶缺乏症 | Succinic Semialdehyde Dehydrogenase Deficiency | ALDH5A1 | AR |
631 | 華沙斷裂綜合症 | Warsaw Breakage Syndrome | DDX11 | AR |
632 | 黃素腺嘌呤二核苷酸合成酶缺乏所致脂質沉積性肌病 | Lipid Storage Myopathy due to Favin Adenine Dinucleotide Synthetase Deficiency | FLAD1 | AR |
633 | 肌病、乳酸酸中毒及鐵粒幼紅細胞性貧血 1 型 | Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 | PUS1 | AR |
634 | 肌病、乳酸酸中毒及鐵粒幼紅細胞性貧血 2 型 | Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 | YARS2 | AR |
635 | 肌病伴錐體外束症 | Myopathy With Extrapyramidal Signs | MICU1 | AR |
636 | 肌肝腦眼侏儒症 | Mulibrey nanism | TRIM37 | AR |
637 | 肌攣縮型 Ehlers-Danlos 綜合症 1 型 | Ehlers-Danlos Syndrome, Musculocontractural Type1 | CHST14 | AR |
638 | 肌營養不良-糖基化營養不良(先天性腦眼異常)7A型 | Muscular Dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), TypeA, 7 | CRPPA | AR |
639 | 肌原纖維肌病 7 型 | Myofibrillar Myopathy 7 | KY | AR |
640 | 肌原纖維肌病 8 型 | Myofibrillar Myopathy 8 | PYROXD1 | AR |
641 | 極長鏈醯基輔酶 A 脫氫酶缺乏症 | Acyl-CoA Dehydrogenase Deficiency, Very Long- Chain | ACADVL | AR |
642 | 急性復發性肌紅蛋白尿 | Acute Recurrent Myoglobinuria | LPIN1 | AR |
643 | 脊髓性肌肉萎縮症 | Spinal Muscular Atrophy | SMN1 | AR |
644 | 脊柱-軀幹骨-幹骺端發育不良 | Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | NKX3-2 | AR |
645 | 脊柱-腕-跗骨融合症 | Spondylocarpotarsal Synostosis Syndrome | FLNB | AR |
646 | 脊柱-眼綜合症 | Spondyloocular Syndrome | XYLT2 | AR |
647 | 脊椎幹骺端結構不良伴視錐-視杆營養不良 | Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | PCYT1A | AR |
648 | 脊椎肋骨發育不全 1 型 | Spondylocostal Dysostosis 1 | DLL3 | AR |
649 | 脊椎肋骨發育不全 2 型 | Spondylocostal Dysostosis 2 | MESP2 | AR |
650 | 脊椎肋骨發育不全 4 型 | Spondylocostal Dysostosis 4 | HES7 | AR |
651 | 家族性地中海熱 | Familial Mediterranean Fever | MEFV | AR |
652 | 家族性肝硬化 | Familial Cirrhosis | KRT8 | AR |
653 | 家族性高膽固醇血症 1 型 | Hypercholesterolemia, Familial,1 | LDLR | AR |
654 | 家族性高胰島素血症 1 型 | Familial Hyperinsulinemic Hypoglycemia 1 | ABCC8 | AR |
655 | 家族性高胰島素血症 2 型 | Familial Hyperinsulinemic Hypoglycemia 2 | KCNJ11 | AR |
656 | 家族性高胰島素血症 4 型 | Familial Hyperinsulinemic Hypoglycemia 4 | HADH | AR |
657 | 家族性卵磷脂膽固醇酞基轉移酶缺乏症 | Familial Lecithin Cholesterol Acyltransferase Deficiency | LCAT | AR |
658 | 家族性氯化物性腹瀉 | Familial Chloride Diarrhea | SLC26A3 | AR |
659 | 家族性念珠菌病 2 型 | Familial Candidiasis 2 | CARD9 | AR |
660 | 家族性噬血細胞性淋巴組織細胞增多症 2 型 | Hemophagocytic Lymphohistiocytosis, Familial, 2 | PRF1 | AR |
661 | 家族性噬血細胞性淋巴組織細胞增多症 3 型 | Hemophagocytic Lymphohistiocytosis, Familial, 3 | UNC13D | AR |
662 | 家族性噬血細胞性淋巴組織細胞增多症 4 型 | Hemophagocytic Lymphohistiocytosis, Familial, 4 | STX11 | AR |
663 | 家族性噬血細胞性淋巴組織細胞增多症 5 型 | Hemophagocytic Lymphohistiocytosis, Familial, 5 | STXBP2 | AR |
664 | 家族性腫瘤樣鈣沉著症 | Familial Normophosphatemic Tumoral Calcinosis | SAMD9 | AR |
665 | 甲基丙二酸單醯輔酶 A 差向異構酶缺乏症 | MCEE-Related Methylmalonic Acidemia | MCEE | AR |
666 | 甲基丙二酸尿症伴同型半胱氨酸尿症 CblF 型 | Methylmalonic Aciduria and Homocystinuria CblF Type | LMBRD1 | AR |
667 | 甲基丙二酸尿症和同型半胱氨酸血症 cblX 型 | Methylmalonic Aciduria and Homocysteinemia, cblX Type | HCFC1 | XL |
668 | 甲基丙二酸血症 cblA 型 | MMAA-Related Methylmalonic Acidemia | MMAA | AR |
669 | 甲基丙二酸血症 cblB 型 | MMAB-Related Methylmalonic Acidemia | MMAB | AR |
670 | 甲基丙二酸血症 Mut 型 | MUT-Related Methylmalonic Acidemia | MMUT | AR |
671 | 甲基丙二酸血症伴同型半胱氨酸血症 cblC 型 | Methylmalonic Aciduria and Homocystinuria cblC Type | MMACHC | AR |
672 | 甲基丙二酸血症伴同型半胱氨酸血症 cblD 型 | Methylmalonic Aciduria and Homocystinuria cblD Type | MMADHC | AR |
673 | 甲羥戊酸尿症 | Mevalonic Aciduria | MVK | AR |
674 | 甲狀腺分泌障礙 5 型 | Thyroid dyshormonogenesis 5 | DUOXA2 | AR |
675 | 甲狀腺分泌障礙 6 型 | Thyroid dyshormonogenesis 6 | DUOX2 | AR |
676 | 假性醛固酮减少症 1 型 | Pseudohypoaldosteronism, TypeI | SCNN1A,SC NN1B | AR |
677 | 間質性肺病和肝病 | Interstitial Lung and Liver Disease | MARS1 | AR |
678 | 肩骨發育不良 1 型 | Omo Dysplasia 1 | GPC6 | AR |
679 | 椒鹽發育倒退綜合症 | Salt and Pepper Developmental Regression Syndrome, Autosomal recessive | ST3GAL5 | AR |
680 | 角膜脆弱綜合症 1 型 | Brittle Cornea Syndrome 1 | ZNF469 | AR |
681 | 角膜脆弱綜合症 2 型 | Brittle Cornea Syndrome 2 | PRDM5 | AR |
682 | 進行性肌陣攣性癲癇 1A 型 | Progressive Myoclonic Epilepsy 1A | CSTB | AR |
683 | 進行性肌陣攣性癲癇 1B 型 | Progressive Myoclonic Epilepsy 1B | PRICKLE1 | AR |
684 | 進行性肌陣攣性癲癇 3 型 | Progressive Myoclonic Epilepsy 3 | KCTD7 | AR |
685 | 進行性肌陣攣性癲癇 4 型 | Progressive Myoclonic Epilepsy 4 | SCARB2 | AR |
686 | 進行性肌陣攣性癲癇 6 型 | Progressive Myoclonic Epilepsy 6 | GOSR2 | AR |
687 | 進行性家族性肝內膽汁淤積症 1 型 | Progressive Familial Intrahepatic Cholestasis 1 | ATP8B1 | AR |
688 | 進行性家族性肝內膽汁淤積症 2 型 | Progressive Familial Intrahepatic Cholestasis 2 | ABCB11 | AR |
689 | 進行性家族性肝內膽汁淤積症 3 型 | Progressive Familial Intrahepatic Cholestasis 3 | ABCB4 | AR |
690 | 進行性家族性肝內膽汁淤積症 4 型 | Progressive Familial Intrahepatic Cholestasis 4 | TJP2 | AR |
691 | 進行性假肥大性肌營養不良 | Duchenne Muscular Dystrophy | DMD | XL |
692 | 進行性假風濕性發育不良 | Progressive Pseudorheumatoid Dysplasia | CCN6 | AR |
693 | 進行性早髮型腦病伴腦水腫和(或)腦白質病 | Encephalopathy, Progressive, Early-onset,with Brain Edema and/or Leukoencephalopathy | NAXE | AR |
694 | 近端腎小管性酸中毒伴眼部畸形 | Proximal Renal Tubular Acidosis with Ocular Abnormalities | SLC4A4 | AR |
695 | 精氨酸琥珀酸尿症 | Argininosuccinic Aciduria | ASL | AR |
696 | 精氨酸或甘氨酸脒基轉移酶缺乏症 | Cerebral creatine Deficiency Syndrome 3 | GATM | AR |
697 | 精氨酸酶缺乏症 | Argininemia | ARG1 | AR |
698 | 痙攣性共濟失調 2 型 | Spastic Ataxia 2 | KIF1C | AR |
699 | 痙攣性共濟失調 3 型 | Spastic Ataxia 3 | MARS2 | AR |
700 | 痙攣性截癱及精神運動性阻滯伴或不伴癲癇 | Spastic Paraplegia And Psychomotor Retardation With or Without Seizures | HACE1 | AR |
701 | 巨腦性腦白質營養不良伴皮質下囊腫 1 型 | Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 | MLC1 | AR |
702 | 巨腦性腦白質營養不良伴皮質下囊腫 2A 型 | Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A | HEPACAM | AR |
703 | 巨軸索神經病 1 型 | Giant Axonal Neuropathy-1 | GAN | AR |
704 | 口面指綜合症 14 型 | Orofaciodigital Syndrome XIV | C2CD3 | AR |
705 | 口面指綜合症 16 型 | Orofaciodigital Syndrome XVI | TMEM107 | AR |
706 | 口面指綜合症 5 型 | Orofaciodigital Syndrome V | DDX59 | AR |
707 | 擴張型心肌病伴毛髮捲曲及皮膚角化病 | Dilated Cardiomyopathy With Woolly Hair And Keratoderma | DSP | AR |
708 | 拉隆氏侏儒症 | Laron Dwarfism | GHR | AR |
709 | 賴氨酸尿性蛋白耐受不良 | Lysinuric Protein Intolerance | SLC7A7 | AR |
710 | 老年樣皮膚伴骨發育不良 | Geroderma Osteodysplasticum | GORAB | AR |
711 | 酪氨酸血症 1 型 | Tyrosinemia Type1 | FAH | AR |
712 | 酪氨酸血症 2 型 | Tyrosinemia TypeII | TAT | AR |
713 | 酪氨酸血症 3 型 | Tyrosinemia TypeIII | HPD | AR |
714 | 酪蛋白激酶綜合症 | CK Syndrome | NSDHL | XL |
715 | 雷夫叙姆病 | Refsum Disease | PHYH | AR |
716 | 類早老型 Ehlers-Danlos 綜合症 1 型 | Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 | B4GALT7 | AR |
717 | 冷誘導性出汗綜合症 1 型 | Cold-induced Sweating Syndrome 1 | CRLF1 | AR |
718 | 冷誘導性出汗綜合症 2 型 | Cold-induced Sweating Syndrome 2 | CLCF1 | AR |
719 | 聯合免疫缺陷和巨幼細胞性貧血伴或不伴高同型半胱氨酸血症 | Combined Immuno Deficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia | MTHFD1 | AR |
720 | 聯合性垂體激素缺乏症 1 型 | Combined Pituitary Hormone Deficiency 1 | POU1F1 | AR |
721 | 聯合性垂體激素缺乏症 2 型 | Combined Pituitary Hormone Deficiency 2 | PROP1 | AR |
722 | 聯合性垂體激素缺乏症 3 型 | Combined Pituitary Hormone Deficiency 3 | LHX3 | AR |
723 | 鐮狀細胞性貧血症 | Sickle Cell Anemia | HBB | AR |
724 | 鏈甾醇症 | Desmosterolosis | DHCR24 | AR |
725 | 裂掌、畸足 6 型 | Split-Hand/Foot Malformation 6 | WNT10B | AR |
726 | 淋巴增殖綜合症 1 型 | Lymphoproliferative Syndrome 1 | ITK | AR |
727 | 淋巴增殖綜合症 2 型 | Lymphoproliferative Syndrome 2 | CD27 | AR |
728 | 磷酸丙糖異構酶缺乏症 | Triosephosphate Isomerase Deficiency | TPI1 | AR |
729 | 磷酸甘油酸激酶缺乏症 | Phosphoglycerate Kinase Deficiency | PGK1 | XL |
730 | 磷酸絲氨酸磷酸酶缺乏症 | Phosphoserine Phosphatase Deficiency | PSPH | AR |
731 | 硫胺反應性巨幼細胞性貧血 | Thiamine-Responsive Megaloblastic Anemia Syndrome | SLC19A2 | AR |
732 | 硫胺素代謝功能障礙綜合症 4 型(雙邊紋狀體變性和進行性多發性神經病型) | Thiamine etabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) | SLC25A19 | AR |
733 | 硫胺素代謝功能障礙綜合症 5 型(發作性腦病型) | Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy type) | TPK1 | AR |
734 | 硫半胱胺酸尿症 | Sulfocysteinuria | SUOX | AR |
735 | 顱額鼻發育不良症 | Craniolenticulosutural Dysplasia | SEC23A | AR |
736 | 顱額鼻綜合症 | Craniofrontonasal Syndrome | EFNB1 | XL |
737 | 顱縫早閉伴牙齒發育異常 | Craniosynostosis and Dental Anomalies | IL11RA | AR |
738 | 顱骨外胚層發育不良 1 型 | Cranioectodermal Dysplasia 1 | IFT122 | AR |
739 | 顱面異常、骨胳異常伴精神遲滯綜合症 | Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome | TMCO1 | AR |
740 | 裸淋巴細胞綜合症 2 型互補群 A | Bare Lymphocyte Syndrome, Type II, Complementation Group A | CIITA | AR |
741 | 裸淋巴細胞綜合症 2 型互補群 B | Bare Lymphocyte Syndrome, Type II, Complementation Group B | RFXANK | AR |
742 | 裸淋巴細胞綜合症 2 型互補群 D | Bare lymphocyte Syndrome, Type II, Complementation Group D | RFXAP | AR |
743 | 慢性心房腸道節律失常綜合症 | Chronic Atrial And Intestinal Dysrhythmia | SGO1 | AR |
744 | 毛髮、肝及小腸綜合症 1 型 | Trichohepatoenteric Syndrome 1 | TTC37 | AR |
745 | 毛髮、肝及小腸綜合症 2 型 | Trichohepatoenteric Syndrome 2 | SKIV2L | AR |
746 | 毛囊性魚鱗病-脫髮-畏光綜合症 | Ichthyosis Follicularis-Atrichia-Photophobia Syndrome | MBTPS2 | XL |
747 | 彌漫性小腦萎縮伴難治性癲癇發作-進行性小頭畸形綜合症 | Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy | QARS1 | AR |
748 | 免疫骨胳發育不良伴神經發育異常 | Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities | EXTL3 | AR |
749 | 免疫缺陷伴 IgM 增高 1 型 | ImmunoDeficiency with Hyper-IgM, Type1 | CD40LG | XL |
750 | 免疫缺陷伴 IgM 增高 3 型 | ImmunoDeficiency with Hyper-IgM, Type3 | CD40 | AR |
751 | 免疫缺陷-著絲粒不穩定-面部異常綜合症 1 型 | ImmunoDeficiency-centromeric Instability-facial Anomalies Syndrome 1 | DNMT3B | AR |
752 | 免疫缺陷-著絲粒不穩定-面部異常綜合症 2 型 | ImmunoDeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 | ZBTB24 | AR |
753 | 免疫缺陷症 10 型 | ImmunoDeficiency 10 | STIM1 | AR |
754 | 免疫缺陷症 11A 型 | ImmunoDeficiency 11A | CARD11 | AR |
755 | 免疫缺陷症 12 型 | ImmunoDeficiency 12 | MALT1 | AR |
756 | 免疫缺陷症 15 型 | ImmunoDeficiency 15B | IKBKB | AR |
757 | 免疫缺陷症 19 型 | ImmunoDeficiency 19 | CD3D | AR |
758 | 免疫缺陷症 23 型 | ImmunoDeficiency 23 | PGM3 | AR |
759 | 免疫缺陷症 24 型 | ImmunoDeficiency 24 | CTPS1 | AR |
760 | 免疫缺陷症 27A 型 | ImmunoDeficiency 27A | IFNGR1 | AR |
761 | 免疫缺陷症 28 型 | ImmunoDeficiency 28 | IFNGR2 | AR |
762 | 免疫缺陷症 31B 型 | ImmunoDeficiency 31B | STAT1 | AR |
763 | 免疫缺陷症 35 型 | ImmunoDeficiency 35 | TYK2 | AR |
764 | 免疫缺陷症 40 型 | ImmunoDeficiency 40 | DOCK2 | AR |
765 | 免疫缺陷症 42 型 | ImmunoDeficiency 42 | RORC | AR |
766 | 免疫缺陷症 47 型 | ImmunoDeficiency 47 | ATP6AP1 | XL |
767 | 免疫缺陷症 48 型 | ImmunoDeficiency 48 | ZAP70 | AR |
768 | 免疫缺陷症 51 型 | ImmunoDeficiency 51 | IL17RA | AR |
769 | 免疫缺陷症 52 型 | ImmunoDeficiency 52 | LAT | AR |
770 | 免疫缺陷症 54 型 | ImmunoDeficiency 54 | MCM4 | AR |
771 | 免疫缺陷症 9 型 | ImmunoDeficiency 9 | ORAI1 | AR |
772 | 末端關節彎曲伴本體感覺和觸覺受損 | Arthrogryposis, Distal, With Impaired Proprioception and Touch | PIEZO2 | AR |
773 | 墨蝶呤還原酶缺乏性多巴反應性張力失調 | Dopa-responsive Dystonia due to Sepiapterin Reductase Deficiency | SPR | AR |
774 | 鉬輔因子 C 缺乏症 | Molybdenum cofactor Deficiency C | GPHN | AR |
775 | 鉬輔因子缺乏症 A 型 | Molybdenum Cofactor Deficiency A | MOCS1 | AR |
776 | 鉬因子缺乏性亞硫酸鹽氧化酶缺乏症 B 型 | Molybdenum Cofactor Deficiency Complementation Group B | MOCS2 | AR |
777 | 奈梅亨破損綜合症 | Nijmegen breakage Syndrome, | NBN | AR |
778 | 奈梅亨破損綜合症樣病 | Nijmegen Breakage Syndrome-like Disorder | RAD50 | AR |
779 | 囊性腦白質病不伴巨腦畸形 | Cystic Leukoencephalopathy without Megalencephaly | RNASET2 | AR |
780 | 囊性纖維化 | Cystic Fibrosis | CFTR | AR |
781 | 腦白質營養不良伴髓鞘發育不良 2 型 | Leukodystrophy, hypomyelinating, 2 | GJC2 | AR |
782 | 腦發育不全-神經病變-魚鱗病-掌跖角化病綜合症 | Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome | SNAP29 | AR |
783 | 腦幹脊髓受累性腦白質病伴乳酸鹽增高症 | Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation | DARS2 | AR |
784 | 腦幹脊髓髓鞘化降低伴下肢痙攣 | Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity | DARS1 | AR |
785 | 腦肌酸缺乏綜合症 1 型 | Cerebral Creatine Deficiency Syndrome 1 | SLC6A8 | XL |
786 | 腦積水綜合症 1 型 | Hydrolethalus Syndrome 1 | HYLS1 | AR |
787 | 腦積水綜合症 2 型 | Hydrolethalus Syndrome 2 | KIF7 | AR |
788 | 腦腱黃瘤病 | Cerebrotendinous xanthomatosis | CYP27A1 | AR |
789 | 腦橋小腦發育不全 10 型 | Pontocerebellar hypoplasia Type10 | CLP1 | AR |
790 | 腦橋小腦發育不全 11 型 | Pontocerebellar hypoplasia Type11 | TBC1D23 | AR |
791 | 腦橋小腦發育不全 1A 型 | Pontocerebellar hypoplasia Type1A | VRK1 | AR |
792 | 腦橋小腦發育不全 1B 型 | Pontocerebellar Hypoplasia Type1B | EXOSC3 | AR |
793 | 腦橋小腦發育不全 1C 型 | Pontocerebellar Hypoplasia, Type1C | EXOSC8 | AR |
794 | 腦橋小腦發育不全 2A 型 | Pontocerebellar hypoplasia Type2A | TSEN54 | AR |
795 | 腦橋小腦發育不全 2B 型 | Pontocerebellar hypoplasia Type2B | TSEN2 | AR |
796 | 腦橋小腦發育不全 2D 型 | Pontocerebellar Hypoplasia Type2D | SEPSECS | AR |
797 | 腦橋小腦發育不全 2E 型 | Pontocerebellar Hypoplasia, Type2E | VPS53 | AR |
798 | 腦橋小腦發育不全 6 型 | Pontocerebellar hypoplasia Type6 | RARS2 | AR |
799 | 腦橋小腦發育不全 7 型 | Pontocerebellar hypoplasia, Type7 | TOE1 | AR |
800 | 腦橋小腦發育不全 9 型 | Pontocerebellar hypoplasia Type9 | AMPD2 | AR |
801 | 腦視網膜微血管病伴鈣化囊腫 | Cerebroretinal Microangiopathy With Calcifications And Cysts | CTC1 | AR |
802 | 腦室擴大伴囊性腎病 | Ventriculomegaly With Cystic Kidney Disease | CRB2 | AR |
803 | 腦室旁小結異位 2 型 | Periventricular Nodular Heterotopia 2 | ARFGEF2 | AR |
804 | 腦-眼-面-骨胳綜合症 2 型 | Cerebrooculofacioskeletal Syndrome 2 | ERCC2 | AR |
805 | 內臟異位 1 型 | Visceral Heterotaxy 1 | ZIC3 | XL |
806 | 內臟異位 7 型 | Visceral Heterotaxy 7 | MMP21 | AR |
807 | 粘多糖貯積症 7 型 | Mucopolysaccharidosis Type VII | GUSB | AR |
808 | 粘多糖貯積症 IIIA 型 | Mucopolysaccharidosis Type IIIA | SGSH | AR |
809 | 粘多糖貯積症 IIIB 型 | Mucopolysaccharidosis Type IIIB | NAGLU | AR |
810 | 粘多糖貯積症 IIIC 型 | Mucopolysaccharidosis TypeIIIC | HGSNAT | AR |
811 | 粘多糖貯積症 IIID 型 | Mucopolysaccharidosis TypeIIID | GNS | AR |
812 | 粘多糖貯積症 II 型 | Mucopolysaccharidosis II | IDS | XL |
813 | 粘多糖貯積症 IVA 型 | Mucopolysaccharidosis TypeIVA | GALNS | AR |
814 | 粘多糖貯積症 IVB 型 | Mucopolysaccharidosis TypeIVB | GLB1 | AR |
815 | 粘多糖貯積症 VI 型 | Mucopolysaccharidosis TypeVI | ARSB | AR |
816 | 粘多糖貯積症 V 型 | Mucopolysaccharidosis TypeV | IDUA | AR |
817 | 鳥氨酸氨甲醯轉移酶缺乏症 | Ornithine Transcarbamylase Deficiency | OTC | XL |
818 | 尿路-面容異常綜合症 1 型 | Urofacial Syndrome 1 | HPSE2 | AR |
819 | 尿路-面容異常綜合症 2 型 | Urofacial Syndrome 2 | LRIG2 | AR |
820 | 帕金森病 15 型 | Parkinson Disease 15 | FBXO7 | AR |
821 | 帕金森病 19 型 | Parkinson Disease 19 | DNAJC6 | AR |
822 | 佩梅病 | Pelizaeus-Merzbacher Disease | PLP1 | XL |
823 | 皮膚異色伴中性粒細胞减少症 | Poikiloderma with Neutropenia | USB1 | AR |
824 | 嘌呤核苷磷酸化酶缺陷 | Purine Nucleoside Phosphorylase Deficiency | PNP | AR |
825 | 平視麻痹伴進行性脊柱側凸 1 型 | Horizontal gaze palsy with progressive scoliosis 1 | ROBO3 | AR |
826 | 葡聚糖體肌病 1 型伴或不伴免疫缺陷 | Polyglucosan Body Myopathy 1 With Or Without ImmunoDeficiency | RBCK1 | AR |
827 | 嵌合的非整倍體綜合症 1 型 | Mosaic variegated aneuploidy Syndrome 1 | BUB1B | AR |
828 | 强直脊柱性肌營養不良 1 型 | Rigid Spine Muscular Dystrophy 1 | SELENON | AR |
829 | 青少年 paget 病 | Juvenile Paget Disease | TNFRSF11 B | AR |
830 | 青少年型原發性側索硬化 | Primary Lateral Sclerosis, Juvenile | ALS2 | AR |
831 | 輕度非 BH4 缺乏性高苯丙氨酸血症 | Mild non-BH4-deficient Hyperphenylalaninemia | DNAJC12 | AR |
832 | 全色盲 2 型 | Achromatopsia 2 | CNGA3 | AR |
833 | 全色盲 3 型 | Achromatopsia 3 | CNGB3 | AR |
834 | 全色盲 4 型 | Achromatopsia 4 | GNAT2 | AR |
835 | 全色盲 7 型 | Achromatopsia 7 | ATF6 | AR |
836 | 全身性透明變性綜合症 | Hyaline Fibromatosis Syndrome | ANTXR2 | AR |
837 | 全羧化酶合成酶缺乏症 | Holocarboxylase Synthetase Deficiency | HLCS | AR |
838 | 溶酶體酸脂肪酶缺乏症 | Lysosomal acid lipase Deficiency | LIPA | AR |
839 | 肉碱軟脂醯轉移酶 1 缺乏症 | Carnitine Palmitoyltransferase I Deficiency | CPT1A | AR |
840 | 肉碱軟脂醯轉移酶 2 缺乏症 | Carnitine Palmitoyltransferase II Deficiency | CPT2 | AR |
841 | 肉碱醯基轉移酶缺乏症 | Carnitine-Acylcarnitine Translocase Deficiency | SLC25A20 | AR |
842 | 乳糜微粒滯留病 | Chylomicron Retention Disease | SAR1B | AR |
843 | 軟骨-毛髮發育不全 | Cartilage-hair Hypoplasia | RMRP | AR |
844 | 軟骨生成不全 1A 型 | Achondrogenesis Type 1A | TRIP11 | AR |
845 | 軟骨生成不全 1B 型 | Achondrogenesis Type 1B | SLC26A2 | AR |
846 | 三功能蛋白缺乏症 | Trifunctional Protein Deficiency | HADHA,HADHB | AR |
847 | 三甲基胺尿症 | Trimethylaminuria | FMO3 | AR |
848 | 身材矮小、視神經萎縮和 Pelger-Huet 異常 | Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly | NBAS | AR |
849 | 身材矮小、指甲發育不良、面容異常和少毛症 | Short Stature, Onycho Dysplasia, Facial Dysmorphism, And Hypotrichosis | POC1A | AR |
850 | 神經發育性疾病伴進行性小頭畸形、痙攣和腦異常 | Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies | PLAA | AR |
851 | 神經發育性疾病伴小頭畸形、肌張力减退和腦異常 | Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies | PRUNE1 | AR |
852 | 神經發育異常、痙攣性四肢癱瘓和腦異常伴或不伴癲癇發作 | Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures | WDR45B | AR |
853 | 神經發育障礙伴或不伴張力减退、癲癇發作和小腦萎縮 | Neurodevelopmental Disorder with or without Hypotonia, Seizures, and Cerebellar Atrophy | PIGG | AR |
854 | 神經發育障礙伴小頭畸形、癲癇發作和腦皮質萎縮 | Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy | VARS1 | AR |
855 | 神經退行性病變伴腦鐵離子沉積症 1 型 | Neurodegeneration with Brain Iron Accumulation 1 | PANK2 | AR |
856 | 神經退行性病變伴腦鐵離子沉積症 2B 型 | Neurodegeneration with Brain Iron Accumulation 2B | PLA2G6 | AR |
857 | 神經退行性病變伴腦鐵離子沉積症 4 型 | Neurodegeneration with Brain Iron Accumulation 4 (Mitochondrial Membrane Protein-Associated Neurodegeneration) | C19orf12 | AR |
858 | 神經元蠟樣脂褐質沉積症 1 型 | Neuronal Ceroid-Lipofuscinoses 1 | PPT1 | AR |
859 | 神經元蠟樣脂褐質沉積症 2 型 | Neuronal Ceroid-Lipofuscinoses 2 | TPP1 | AR |
860 | 神經元蠟樣脂褐質沉積症 3 型 | Neuronal Ceroid-Lipofuscinoses 3 | CLN3 | AR |
861 | 神經元蠟樣脂褐質沉積症 4A 型 | Neuronal Ceroid-Lipofuscinoses 4A | CLN6 | AR |
862 | 神經元蠟樣脂褐質沉積症 5 型 | Neuronal Ceroid-Lipofuscinoses 5 | CLN5 | AR |
863 | 神經元蠟樣脂褐質沉積症 6 型 | Neuronal Ceroid-Lipofuscinoses 6 | CLN6 | AR |
864 | 神經元蠟樣脂褐質沉積症 7 型 | Neuronal Ceroid-Lipofuscinoses 7 | MFSD8 | AR |
865 | 神經元蠟樣脂質褐素沉積病 10 型 | Neuronal Ceroid-Lipofuscinoses 10 | CTSD | AR |
866 | 神經元蠟樣脂質褐素沉積病 8 型 | Neuronal Ceroid Lipofuscinosis 8 | CLN8 | AR |
867 | 腎病型胱氨酸症 | Nephropathic Cystinosis | CTNS | AR |
868 | 腎病綜合症 11 型 | Nephrotic Syndrome Type11 | NUP107 | AR |
869 | 腎病綜合症 12 型 | Nephrotic Syndrome Type12 | NUP93 | AR |
870 | 腎病綜合症 14 型 | Nephrotic Syndrome Type14 | SGPL1 | AR |
871 | 腎病綜合症 1 型 | Nephrotic Syndrome, Type1 | NPHS1 | AR |
872 | 腎病綜合症 2 型 | Nephrotic Syndrome Type2 | NPHS2 | AR |
873 | 腎病綜合症 3 型 | Nephrotic Syndrome Type3 | PLCE1 | AR |
874 | 腎病綜合症 7 型 | Nephrotic Syndrome Type7 | DGKE | AR |
875 | 腎病綜合症 9 型 | Nephrotic Syndrome Type9 | COQ8B | AR |
876 | 腎單位腎癆 11 型 | Nephronophthisis 11 | TMEM67 | AR |
877 | 腎單位腎癆 16 型 | Nephronophthisis 16 | ANKS6 | AR |
878 | 腎單位腎癆 19 型 | Nephronophthisis 19 | DCDC2 | AR |
879 | 腎單位腎癆 20 型 | Nephronophthisis 20 | MAPKBP1 | AR |
880 | 腎單位腎癆 2 型 | Nephronophthisis 2 | INVS | AR |
881 | 腎單位腎癆 3 型 | Nephronophthisis 3 | NPHP3 | AR |
882 | 腎單位腎癆樣腎病 1 型 | Nephronophthisis-Like Nephropathy 1 | XPNPEP3 | AR |
883 | 腎-肝-胰腺發育不良 2 型 | Renal-Hepatic-Pancreatic Dysplasia 2 | NEK8 | AR |
884 | 腎小管發育不全 | Renal Tubular Dysgenesis | ACE,AGT, REN | AR |
885 | 腎性尿崩症 2 型 | Diabetes insipidus, Nephrogenic, 2 | AQP2 | AR |
886 | 腎源性低鎂血症 5 型 | Hypomagnesemia 5, Renal, with Ocular Involvement | CLDN19 | AR |
887 | 生物素-硫胺素反應性基底節病/硫胺素代謝功能障礙綜合症 2 型 | Thiamine Metabolism Dysfunction Syndrome 2 (biotin- or thiamine-responsive encephalopathy Type 2) | SLC19A3 | AR |
888 | 生物素酶缺乏症 | Biotinidase Deficiency | BTD | AR |
889 | 生長遲緩-智力發育受損-張力减退和肝病 | Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy | IARS1 | AR |
890 | 生長遲滯、發育遲緩、粗糙面容及早亡 | Growth Retardation, Developmental Delay, Facial Dysmorphism | FTO | AR |
891 | 視隔發育不良 | Septooptic Dysplasia | HESX1 | AR |
892 | 視神經萎縮 10 型 | Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures | RTN4IP1 | AR |
893 | 視網膜大動脉瘤伴瓣膜上肺動脉狹窄 | Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis | IGFBP7 | AR |
894 | 視網膜色素變性 14 型 | Retinitis Pigmentosa 14 | TULP1 | AR |
895 | 視網膜色素變性 59 型 | Retinitis Pigmentosa 59 | DHDDS | AR |
896 | 視網膜色素變性 77 型 | Retinitis Pigmentosa 77 | REEP6 | AR |
897 | 視網膜色素變性伴或不伴骨胳異常 | Retinitis Pigmentosa with or without Skeletal Anomalies | CWC27 | AR |
898 | 視網膜營養不良伴或不伴黃斑葡萄腫 | Retinal Dystrophy with Macular Staphyloma | CFAP410 | AR |
899 | 視錐-視杆營養不良 | Cone-rod Dystrophy | AIPL1 | AR |
900 | 視錐-視杆營養不良 10 型 | Cone-Rod Dystrophy 10 | SEMA4A | AR |
901 | 視錐-視杆營養不良 16 型 | Cone-Rod Dystrophy 16 | C8orf37 | AR |
902 | 視錐-視杆營養不良 3 型 | Cone-Rod Dystrophy 3 | ABCA4 | AR |
903 | 手脚短小型脊柱骨骺發育不良 | Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type | DDR2 | AR |
904 | 雙側額頂骨多小腦回畸形 | Bilateral Frontoparietal Polymicrogyria | ADGRG1 | AR |
905 | 四氫生物蝶呤缺乏症 A 型 | Hyperphenylalaninemia, BH4-deficient, A | PTS | AR |
906 | 四肢骨盆發育不全綜合症 | Limb Pelvis Hypoplasia Aplasia Syndrome | WNT7A | AR |
907 | 四肢癱瘓、胼胝體變薄及進行性小頭畸 形 | Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly | SLC1A4 | AR |
908 | 髓鞘减少型腦白質營養不良 9 型 | Leukodystrophy, Hypomyelinating, 9 | RARS1 | AR |
909 | 胎兒運動不能畸形序列症 2 型 | Fetal Akinesia Deformation Sequence 2 | RAPSN | AR |
910 | 胎糞性腸梗阻 | Meconium Ileus | GUCY2C | AR |
911 | 糖基磷脂醯肌醇合成缺陷 15 型 | Glycosylphosphatidylinositol Biosynthesis Defect 15 | GPAA1 | AR |
12 | 糖皮質激素缺乏症 1 型 | Glucocorticoid Deficiency 1 | MC2R | AR |
913 | 糖皮質激素缺乏症 2 型 | Glucocorticoid Deficiency 2 | MRAP | AR |
914 | 糖皮質激素缺乏症 4 型 | Glucocorticoid Deficiency 4 | NNT | AR |
915 | 糖原累積病 Ia 型 | Glycogen Storage Disease TypeIa | G6PC | AR |
916 | 糖原累積病 Ib 型 | Glycogen Storage Disease TypeIb | SLC37A4 | AR |
917 | 糖原累積病 Ic 型 | Glycogen Storage Disease TypeIc | SLC37A4 | AR |
918 | 糖原累積病 II 型 | Glycogen Storage Disease TypeII | GAA | AR |
919 | 糖原累積病 IV 型 | Glycogen Storage Disease TypeIV | GBE1 | AR |
920 | 糖原累積症 III 型 | Glycogen Storage Disease TypeIII | AGL | AR |
921 | 糖原累積症 IXa 型 | Glycogen storage Disease TypeIXa1/IXa2 | PHKA2 | XL |
922 | 糖原累積症 IXb 型 | Glycogen storage Disease TypeIXb | PHKB | AR |
923 | 糖原累積症 IXc 型 | Glycogen storage Disease TypeIXc | PHKG2 | AR |
924 | 糖原累積症 IXd 型 | Glycogen storage Disease TypeIXd | PHKA1 | XL |
925 | 糖原累積症 VII 型 | Glycogen Storage Disease TypeVII | PFKM | AR |
926 | 糖原累積症 VI 型 | Glycogen Storage Disease TypeVI | PYGL | AR |
927 | 糖原累積症 V 型 | Glycogen Storage Disease TypeV | PYGM | AR |
928 | 糖原累積症 XIV 型 | Glycogen Storage Disease TypeXIV | PGM1 | AR |
929 | 特發性生長激素缺乏症 3 型 | Isolated growth hormone Deficiency TypeIII | BTK | XL |
930 | 特納型 X 連鎖綜合症智力發育障礙 | Intellectual Developmental Disorder, X-linked, Turner Type | HUWE1 | XL |
931 | 天冬氨醯葡糖胺尿症 | Aspartylglucosaminuria | AGA | AR |
932 | 天冬醯胺合成酶缺乏症 | Asparagine Synthetase Deficiency | ASNS | AR |
933 | 鐵粒幼細胞性貧血、B 細胞免疫缺陷、周期性發熱、發育延遲綜合症 | Sideroblastic Anemia With B-Cell ImmunoDeficiency, Periodic Fevers, And Developmental Delay | TRNT1 | AR |
934 | 同型半胱氨酸尿症伴巨幼細胞貧血cblE 型 | Homocystinuria-megaloblastic anemia cblE type | MTRR | AR |
935 | 透明脊椎異骨症 | Diaphanospondylodysostosis | BMPER | AR |
936 | 透析腦病綜合症(伴脂肪代謝障礙) | Encephalopathy, Progressive, With Or Without Lipodystrophy | BSCL2 | AR |
937 | 唾液酸沉積症 | Sialidosis | NEU1 | AR |
938 | 外胚層發育不良、先天性指缺陷及黃斑營養不良綜合症 | Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome | CDH3 | AR |
939 | 外胚層發育不良 10b(少汗、毛髮、牙齒型) | Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type | EDAR | AR |
940 | 外胚層發育不良和免疫缺陷 1 型 | Ectodermal Dysplasia and ImmunoDeficiency 1 | IKBKG | XL |
941 | 烷醇症 | Lathosterolosis | SC5D | AR |
942 | 網狀細胞發育不全 | Reticular Dysgenesis | AK2 | AR |
943 | 維生素 B6 依賴型早發性癲癇 | Epilepsy, early-onset, vitamin B6-dependent | PLPBP | AR |
944 | 維生素 D 依賴性佝僂病 IA 型 | Vitamin D-dependent rickets TypeIA | CYP27B1 | AR |
945 | 維生素K 依賴性凝血因子聯合缺乏 2 型 | Vitamin K-dependent clotting factors, combined Deficiency of, 2 | VKORC1 | AR |
946 | 胃腸道缺陷和免疫缺陷綜合症 1 型 | Gastrointestinal defects and Immuno Deficiency Syndrome | TTC7A | AR |
947 | 無β脂蛋白血症 | Abetalipoproteinemia | MTTP | AR |
948 | 無泪、失弛緩和智力障礙綜合症 | Alacrima, Achalasia, And Mental Retardation Syndrome | GMPPA | AR |
949 | 無腦回畸形 4 型 | Lissencephaly 4 | NDE1 | AR |
950 | 無腦回畸形 5 型 | Lissencephaly 5 | LAMB1 | AR |
951 | 無腦回畸形 6 型 | Lissencephaly 6 | KATNB1 | AR |
952 | 無腦回畸形 8 型 | Lissencephaly 8 | TMTC3 | AR |
953 | 無手足畸形 | Acheiropody | LMBR1 | AR |
954 | 無轉鐵蛋白血症 | Atransferrinemia | TF | AR |
955 | 舞蹈病-棘紅細胞增多症 | Chorea-Acanthocytosis | VPS13A | AR |
956 | 戊二酸血症 IIA 型 | Glutaric acidemia IIA | ETFA | AR |
957 | 戊二酸血症 IIB 型 | Glutaric acidemia IIB | ETFB | AR |
958 | 戊二酸血症 IIC 型 | Glutaric acidemia IIC | ETFDH | AR |
959 | 戊二酸血症 I 型 | Glutaric Acidemia I | GCDH | AR |
960 | 細胞色素 c 氧化酶缺乏性致死性嬰兒心腦肌病 1 型 | Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency 1 | SCO2 | AR |
961 | 細胞色素 c 氧化酶缺乏性致死性嬰兒心腦肌病 2 型 | Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency 2 | COX15 | AR |
962 | 先天泌鈉型腹瀉 8 型 | Congenital Diarrhea 8, Secretory Sodium | SLC9A3 | AR |
963 | 先天性白內障、聽力損失和神經退行性變 | Congenital Cataracts, Hearing Loss, And Neurodegeneration | SLC33A1 | AR |
964 | 先天性膽汁酸合成障礙 1 型 | Congenital Bile Acid Synthesis Defect 1 | HSD3B7 | AR |
965 | 先天性膽汁酸合成障礙 2 型 | Congenital Bile Acid Synthesis Defect 2 | AKR1D1 | AR |
966 | 先天性膽汁酸合成障礙 3 型 | Congenital Bile Acid Synthesis Defect 3 | CYP7B1 | AR |
967 | 先天性短腸綜合症(CLMP 基因相關) | Congenital Short Bowel Syndrome(CLMP) | CLMP | AR |
968 | 先天性多發畸形-張力减退-癲癇發作綜 合症 2 型 | Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 | PIGA | XL |
969 | 先天性多關節攣縮 1 型伴髓鞘缺陷 | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | LGI4 | AR |
970 | 先天性非甲狀腺腫性甲狀腺功能减退症 1 型 | Hypothyroidism Congenital Nongoitrous 1 | TSHR | AR |
971 | 先天性非甲狀腺腫性甲狀腺功能减退症 4 型 | Hypothyroidism Congenital Nongoitrous 4 | TSHB | AR |
972 | 先天性紅細胞生成障礙性貧血 2 型 | Congenital Dyserythropoietic Anemia TypeII | SEC23B | AR |
973 | 先天性肌無力綜合症 10 型 | Congenital Myasthenic Syndrome 10 | DOK7 | AR |
974 | 先天性肌無力綜合症 13 型 | Congenital Myasthenic Syndrome 13 | DPAGT1 | AR |
975 | 先天性肌無力綜合症 14 型 | Congenital Myasthenic Syndrome 14 | ALG2 | AR |
976 | 先天性肌無力綜合症 20 型 | Congenital Myasthenic Syndrome 20 | SLC5A7 | AR |
977 | 先天性肌無力綜合症 3B 型 | Congenital Myasthenic Syndrome 3B, fast-channel | CHRND | AR |
978 | 先天性肌無力綜合症 4A 型 | Congenital Myasthenic Syndrome 4A, Slow-channel | CHRNE | AR |
979 | 先天性肌無力綜合症 5 型 | Congenital Myasthenic Syndrome 5 | COLQ | AR |
980 | 先天性肌無力綜合症 6 型 | Congenital Myasthenic Syndrome 6 | CHAT | AR |
981 | 先天性肌無力綜合症 9 型 | Congenital Myasthenic Syndrome 9 | MUSK | AR |
982 | 先天性肌營養不良伴白內障和智力障礙 | Muscular dystrophy, congenital, with cataracts and intellectual disability | INPP5K | AR |
983 | 先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A10 型 | Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 10 | RXYLT1 | AR |
984 | 先天性肌營養不良-抗肌萎縮相關糖蛋 | Congenital Muscular | B3GALNT2 | AR |
985 | 白病伴腦眼異常 A11 型 | Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 11 | AR | |
986 | 先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A12 型 | Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 12 | POMK | AR |
987 | 先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A1 型 | Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA1 | POMT1 | AR |
988 | 先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼 異常 A2 型 | Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 2 | POMT2 | AR |
989 | 先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A3 型 | Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 3 | POMGNT1 | AR |
990 | 先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A4 型 | Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 4 | FKTN | AR |
991 | 先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A5 型 | Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 5 | FKRP | AR |
992 | 先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A6 型 | Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 6 | LARGE1 | AR |
993 | 先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A8 型 | Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 8 | POMGNT2 | AR |
994 | 先天性靜止性夜盲症 1A 型 | Congenital Stationary Night Blindness, Type1A | NYX | XL |
995 | 先天性靜止性夜盲症 1E 型 | Congenital Stationary Night Blindness, Type1E | GPR179 | AR |
996 | 先天性靜止性夜盲症 2B 型 | Congenital Stationary Night Blindness, Type2B | CABP4 | AR |
997 | 先天性鈉腹瀉 | Congenital Sodium Diarrhea | SPINT2 | AR |
998 | 先天性腦積水 1 型 | Congenital Hydrocephalus 1 | CCDC88C | AR |
999 | 先天性腦積水 2 型伴或不伴腦或眼異常 | Congenital Hydrocephalus 2 with or Without Brain or Eye Anomalies | MPDZ | AR |
1000 | 先天性凝血酶原缺乏症 | Congenital Prothrombin Deficiency | F2 | AR |
1001 | 先天性全身性脂肪營養不良 4 型 | Lipodystrophy, congenital generalized, Type4 | CAVIN1 | AR |
1002 | 先天性腎上腺功能减退伴性別反轉 | Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete | CYP11A1 | AR |
1003 | 先天性糖基化病 1a 型 | Congenital Disorders of Glycosylation Ia | PMM2 | AR |
1004 | 先天性糖基化病 1b 型 | Congenital Disorders of Glycosylation Ib | MPI | AR |
1005 | 先天性糖基化病 1c 型 | Congenital Disorders of Glycosylation Ic | ALG6 | AR |
1006 | 先天性糖基化病 1d 型 | Congenital Disorders of Glycosylation Id | ALG3 | AR |
1007 | 先天性糖基化病 1g 型 | Congenital Disorders of Glycosylation Ig | ALG12 | AR |
1008 | 先天性糖基化病 1h 型 | Congenital Disorders of Glycosylation Ih | ALG8 | AR |
1009 | 先天性糖基化病 1k 型 | Congenital Disorders of Glycosylation Ik | ALG1 | AR |
1010 | 先天性糖基化病 1l 型 | Congenital Disorders of Glycosylation Il | ALG9 | AR |
1011 | 先天性糖基化病 1m 型 | Congenital Disorders of Glycosylation Im | DOLK | AR |
1012 | 先天性糖基化病 1n 型 | Congenital Disorders of Glycosylation In | RFT1 | AR |
1013 | 先天性糖基化病 1p 型 | Congenital Disorders of Glycosylation Ip | ALG11 | AR |
1014 | 先天性糖基化病 1q 型 | Congenital Disorders of Glycosylation Iq | SRD5A3 | AR |
1015 | 先天性糖基化病 1v 型 | Congenital Disorders of Glycosylation Iv | NGLY1 | AR |
1016 | 先天性糖基化病 1Y 型 | Congenital Disorders of Glycosylation Iy | SSR4 | XL |
1017 | 先天性糖基化病 2a 型 | Congenital Disorders of Glycosylation IIa | MGAT2 | AR |
1018 | 先天性糖基化病 2e 型 | Congenital Disorders of Glycosylation IIe | COG7 | AR |
1019 | 先天性糖基化病 2k 型 | Congenital Disorders of Glycosylation IIk | TMEM165 | AR |
1020 | 先天性糖基化病 2l 型 | Congenital Disorders of Glycosylation IIl | COG6 | AR |
1021 | 先天性糖基化病 2n 型 | Congenital Disorders of Glycosylation Iin | SLC39A8 | AR |
1022 | 先天性糖基化病 2o 型 | Congenital Disorders of Glycosylation Iio | CCDC115 | AR |
1023 | 先天性痛覺不敏感 | Congenital Insensitivity to Pain | SCN9A | AR |
1024 | 先天性脫髮伴 T 細胞免疫缺陷和甲營養不良 | Congenital Alopecia and T-Cell ImmunoDeficiency and Nail Dystrophy | FOXN1 | AR |
1025 | 先天性無巨核細胞血小板减少 | Congenital Amegakaryocytic Thrombocytopenia | MPL | AR |
1026 | 先天性無痛無汗症 | Insensitivity to pain, congenital, with anhidrosis | NTRK1 | AR |
1027 | 先天性纖維蛋白原缺乏血症 | Congenital Afibrinogenemia | FGA,FGB,F GG | AR |
1028 | 先天性血栓性血小板减少性紫癜 | Congenital Thrombotic thrombocytopenic purpura | ADAMTS13 | AR |
1029 | 先天性指屈曲、關節病、髖內翻及心包炎綜合症 | Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome | PRG4 | AR |
1030 | 纖維軟骨增生 1 型 | Fibrochondrogenesis 1 | COL11A1 | AR |
1031 | 纖維軟骨增生 2 型 | Fibrochondrogenesis 2 | COL11A2 | AR |
1032 | 綫粒體 DNA 缺失綜合症 11 型 | Mitochondrial DNA depletion Syndrome 11 | MGME1 | AR |
1033 | 綫粒體 DNA 缺失綜合症 13 型 | Mitochondrial DNA depletion Syndrome 13 | FBXL4 | AR |
1034 | 綫粒體 DNA 缺失綜合症 1 型 | Mitochondrial DNA depletion Syndrome 1 | TYMP | AR |
1035 | 綫粒體 DNA 缺失綜合症 2 型 | Mitochondrial DNA depletion Syndrome 2 | TK2 | AR |
1036 | 綫粒體 DNA 缺失綜合症 3 型 | Mitochondrial DNA depletion Syndrome 3 | DGUOK | AR |
1037 | 綫粒體 DNA 缺失綜合症 4A 型 | Mitochondrial DNA depletion Syndrome 4A | POLG | AR |
1038 | 綫粒體 DNA 缺失綜合症 5 型 | Mitochondrial DNA depletion Syndrome 5 | SUCLA2 | AR |
1039 | 綫粒體 DNA 缺失綜合症 6 型 | Mitochondrial DNA depletion Syndrome 6 | MPV17 | AR |
1040 | 綫粒體 DNA 缺失綜合症 7 型 | Mitochondrial DNA depletion Syndrome 7 | TWNK | AR |
1041 | 綫粒體 DNA 缺失綜合症 8A 型/8B 型 | Mitochondrial DNA depletion Syndrome 8A/8B | RRM2B | AR |
1042 | 綫粒體 DNA 缺失綜合症 9 型 | Mitochondrial DNA depletion Syndrome 9 | SUCLG1 | AR |
1043 | 綫粒體短鏈烯醯 CoA 水合酶 1 缺乏症 | Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency | ECHS1 | AR |
1044 | 綫粒體複合體 I 缺乏症,核型 1 | Mitochondrial Complex I Deficiency, Nuclear Type 1 | NDUFS4 | AR |
1045 | 綫粒體複合體 I 缺乏症,核型 10 | Mitochondrial Complex I Deficiency, Nuclear Type 10 | NDUFAF2 | AR |
1046 | 綫粒體複合體 I 缺乏症,核型 12 | Mitochondrial Complex I Deficiency, Nuclear Type 12 | NDUFA1 | XL |
1047 | 綫粒體複合體 I 缺乏症,核型 14 | Mitochondrial Complex I Deficiency, Nuclear Type 14 | NDUFA11 | AR |
1048 | 綫粒體複合體 I 缺乏症,核型 16 | Mitochondrial Complex I Deficiency, Nuclear Type 16 | NDUFAF5 | AR |
1049 | 綫粒體複合體 I 缺乏症,核型 17 | Mitochondrial Complex I Deficiency, Nuclear Type 17 | NDUFAF6 | AR |
1050 | 綫粒體複合體 I 缺乏症,核型 19 | Mitochondrial Complex I Deficiency, Nuclear Type 19 | FOXRED1 | AR |
1051 | 綫粒體複合體 I 缺乏症,核型 2 | Mitochondrial Complex I Deficiency, Nuclear Type 2 | NDUFS8 | AR |
1052 | 綫粒體複合體 I 缺乏症,核型 21 | Mitochondrial Complex I Deficiency, Nuclear Type 21 | NUBPL | AR |
1053 | 綫粒體複合體 I 缺乏症,核型 22 | Mitochondrial Complex I Deficiency, Nuclear Type 22 | NDUFA10 | AR |
1054 | 綫粒體複合體 I 缺乏症,核型 3 | Mitochondrial Complex I Deficiency, Nuclear Type 3 | NDUFS7 | AR |
1055 | 綫粒體複合體 I 缺乏症,核型 4 | Mitochondrial Complex I Deficiency, Nuclear Type 4 | NDUFV1 | AR |
1056 | 綫粒體複合體 I 缺乏症,核型 5 | Mitochondrial Complex I Deficiency, Nuclear Type 5 | NDUFS1 | AR |
1057 | 綫粒體複合體 I 缺乏症,核型 6 | Mitochondrial Complex I Deficiency, Nuclear Type 6 | NDUFS2 | AR |
1058 | 綫粒體複合體 I 缺乏症,核型 7 | Mitochondrial Complex I Deficiency, Nuclear Type 7 | NDUFV2 | AR |
1059 | 綫粒體複合體 I 缺乏症,核型 9 | Mitochondrial Complex I Deficiency, Nuclear Type 9 | NDUFS6 | AR |
1060 | 綫粒體複合體 I 缺乏症,核型 20 | Mitochondrial Complex I Deficiency, Nuclear Type 20 | ACAD9 | AR |
1061 | 綫粒體複合體 II 缺乏症,核型 2 | Mitochondrial Complex II Deficiency, Nuclear Type 2 | SDHAF1 | AR |
1062 | 綫粒體複合體 III 缺乏症,核型 2 | Mitochondrial Complex III Deficiency Nuclear Type 2 | TTC19 | AR |
1063 | 綫粒體複合體 III 缺乏症,核型 4 | Mitochondrial Complex III Deficiency Nuclear Type 4 | UQCRQ | AR |
1064 | 綫粒體複合體 III 缺乏症,核型 5 | Mitochondrial Complex III Deficiency Nuclear Type 5 | UQCRC2 | AR |
1065 | 綫粒體複合體 III 缺乏症,核型 8 | Mitochondrial Complex III Deficiency Nuclear Type 8 | LYRM7 | AR |
1066 | 綫粒體複合體 IV 缺乏症,核型 1 | Mitochondrial Complex IV Deficiency, Nuclear Type 1 | SURF1 | AR |
1067 | 綫粒體複合體 IV 缺乏症,核型 3 | Mitochondrial Complex IV Deficiency, Nuclear Type 3 | COX10 | AR |
1068 | 綫粒體複合體 IV 缺乏症,核型 11 | Mitochondrial Complex IV Deficiency, Nuclear Type 11 | COX20 | AR |
1069 | 綫粒體複合體 IV 缺乏症,核型 12 | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | PET100 | AR |
1070 | 綫粒體複合體 IV 缺乏症,核型 17 | Mitochondrial Complex IV Deficiency, Nuclear Type 17 | COA8 | AR |
1071 | 綫粒體複合體 V(ATP 合酶)缺乏症,核型 2 | Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type2 | TMEM70 | AR |
1072 | 綫粒體神經發育性疾病伴運動異常和乳酸酸中毒(伴或不伴癲癇) | Mitochondrial Neurodevelopmental Disorder with Abnormal Movements and Lactic Acidosis with or without Seizures | WARS2 | AR |
1073 | 腺苷琥珀酸酶缺乏症 | Adenylosuccinase Deficiency | ADSL | AR |
1074 | 腺苷脫氨酶缺乏症 | Adenosine Deaminase Deficiency | ADA | AR |
1075 | 小兒暫時性肝功能衰竭綜合症 | Infantile Transient Liver Failure | TRMU | AR |
1076 | 小腦-面-牙綜合症 | Cerebellofaciodental Syndrome | BRF1 | AR |
1077 | 小腦性共濟失調-智力障礙-平衡失調綜合症 1 型 | Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 | VLDLR | AR |
1078 | 小腦性共濟失調-智力障礙-平衡失調綜合症 2 型 | Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 | WDR81 | AR |
1079 | 小腦性共濟失調-智力障礙-平衡失調綜合症 4 型 | Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 | ATP8A2 | AR |
1080 | 小頭骨發育不良先天性侏儒 1 型 | Microcephalic Osteodysplastic Primordial Dwarfism, TypeI | RNU4ATAC | AR |
1081 | 小頭骨發育不良先天性侏儒 2 型 | Microcephalic Osteodysplastic Primordial Dwarfism, Type II | PCNT | AR |
1082 | 小頭畸形、矮小和肢體異常 | Microcephaly, Short Stature, And Limb Abnormalities | DONSON | AR |
1083 | 小頭畸形、癲癇、痙攣發作及腦鈣化 | Microcephaly, Seizures, Spasticity, And Brain Calcifications | PCDH12 | AR |
1084 | 小頭畸形、癲癇和糖尿病綜合症 | Microcephaly, Epilepsy, and Diabetes Syndrome | IER3IP1 | AR |
1085 | 小頭畸形、短肢及葡萄糖代謝障礙 1 型 | Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 | TRMT10A | AR |
1086 | 小頭畸形-癲癇-發育遲緩症 | Microcephaly, Seizures, and Developmental Delay | PNKP | AR |
1087 | 小頭畸形-毛細血管畸形綜合症 | Microcephaly-Capillary Malformation Syndrome | STAMBP | AR |
1088 | 小眼畸形伴眼缺損 3 型 | Microphthalmia with Coloboma 3 | VSX2 | AR |
1089 | 鋅缺乏型腸病性肢端皮炎 | Acrodermatitis Enteropathica, Zinc-Deficiency Type | SLC39A4 | AR |
1090 | 新生兒 Bartter 綜合症 4A 型伴感音性耳聾 | Neonatal Bartter Syndrome Type 4A with Sensorineural Deafness | BSND | AR |
1091 | 新生兒瓜氨酸血症 2 型 | Citrullinemia, TypeII, Neonatal-Onset | SLC25A13 | AR |
1092 | 新生兒糖尿病伴先天性甲狀腺功能减退 | Neonatal Diabetes Mellitus with Congenital Hypothyroidism | GLIS3 | AR |
1093 | 新生兒嚴重型甲狀旁腺功能亢進 | Neonatal Severe Hyperparathyroidism | CASR | AR |
1094 | 新生兒致死型頑固多發性癲癇發作綜合症 | Lethal Neonatal Rigidity and Multifocal Seizure Syndrome | BRAT1 | AR |
1095 | 血色病 2A 型 | Hemochromatosis, Type 2A | HJV | AR |
1096 | 血小板異常伴嗜酸性粒細胞增多症及免疫介導的炎性反應 | Platelet Abnormalities with Eosinophilia and Immune-mediated Inflammatory Disease | ARPC1B | AR |
1097 | 亞甲基四氫葉酸還原酶缺乏性高胱氨酸尿症 | Homocystinuria due to MTHFR Deficiency | MTHFR | AR |
1098 | 烟霧病 6 型伴或不伴食管失馳症 | Moyamoya Disease 6 with or without Achalasia | GUCY1A1 | AR |
1099 | 延胡索酸酶缺乏症 | Fumarase Deficiency | FH | AR |
1100 | 嚴重先天性中性白細胞减少症 3 型 | Severe Congenital Neutropenia, Autosomal Recessive,3 | HAX1 | AR |
1101 | 嚴重先天性中性白細胞减少症 4 型 | Severe Congenital Neutropenia, Autosomal Recessive,4 | G6PC3 | AR |
1102 | 嚴重先天性中性白細胞减少症 5 型 | Severe Congenital Neutropenia, Autosomal Recessive, 5 | VPS45 | AR |
1103 | 嚴重先天性中性白細胞减少症 6 型 | Severe Congenital Neutropenia, Autosomal Recessive, 6 | JAGN1 | AR |
1104 | 岩藻糖苷貯積病 | Fucosidosis | FUCA1 | AR |
1105 | 炎性腸病 28 型 | Inflammatory Bowel Disease 28 | IL10RA | AR |
1106 | 眼皮膚白化病 1 型 | Oculocutaneous Albinism Type1 | TYR | AR |
1107 | 眼皮膚白化病 2 型 | Oculocutaneous Albinism Type2 | OCA2 | AR |
1108 | 眼皮膚白化病 3 型 | Oculocutaneous Albinism Type3 | TYRP1 | AR |
1109 | 眼皮膚白化病 4 型 | Oculocutaneous Albinism Type4 | SLC45A2 | AR |
1110 | 眼皮膚白化病 6 型 | Oculocutaneous Albinism Type6 | SLC24A5 | AR |
1111 | 眼皮膚白化病 7 型 | Oculocutaneous Albinism Type7 | C10orf11 | AR |
1112 | 眼前節發育障礙 2 型 | Anterior Segement Dysgenesis 2 | FOXE3 | AR |
1113 | 眼前節發育障礙 7 型 | Anterior Segement Dysgenesis 7 | PXDN | AR |
1114 | 眼缺損、先心病、魚鱗病樣皮膚病、智力障礙及 耳異常綜合症 | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome | PIGL | AR |
1115 | 羊水過多伴巨腦和症狀性癲癇 | Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy | STRADA | AR |
1116 | 胰島素樣生長因子 I 抵抗 | Insulin-Like Growth Factor I, Resistance to | IGF1R | AR |
1117 | 遺傳性感覺和自主神經病 2B 型 | Hereditary Sensory and Autonomic Neuropathy TypeIIB | RETREG1 | AR |
1118 | 遺傳性感覺和自主神經病 2 型 | Hereditary Sensory and Autonomic Neuropathy TypeII | WNK1 | AR |
1119 | 遺傳性感覺和自主神經病 5 型 | Hereditary Sensory and Autonomic Neuropathy TypeV | NGF | AR |
1120 | 遺傳性感覺和自主神經病 8 型 | Hereditary Sensory and Autonomic Neuropathy TypeVIII | PRDM12 | AR |
1121 | 遺傳性感覺和自主神經病變 3 型 | Hereditary Sensory and Autonomic Neuropathy Type III | ELP1 | AR |
1122 | 遺傳性果糖不耐受症 | Hereditary Fructose Intolerance | ALDOB | AR |
1123 | 遺傳性驚跳症 3 型 | Hereditary Hyperekplexia 3 | SLC6A5 | AR |
1124 | 遺傳性驚跳症 4 型 | Hereditary 4 | ATAD1 | AR |
1125 | 遺傳性血色病 2B 型 | Hemochromatosis Type2B | HAMP | AR |
1126 | 遺傳性葉酸吸收不良 | Hereditary Folate Malabsorption | SLC46A1 | AR |
1127 | 遺傳性運動感覺神經病 6B 型 | Hereditary Motor And Sensory Neuropathy type VIB | SLC25A46 | AR |
1128 | 遺傳性運動感覺性神經病伴胼胝體發育不全 | Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum | SLC12A6 | AR |
1129 | 乙基丙二酸腦病 | Ethylmalonic Encephalopathy | ETHE1 | AR |
1130 | 乙型血友病 | Hemophilia B | F9 | XL |
1131 | 異丁醯輔酶 A 脫氫酶缺乏症 | Isobutyryl-CoA dehydrogenase Deficiency | ACAD8 | AR |
1132 | 異染性腦白質營養不良 | Metachromatic Leukodystrophy due to Arylsulfatase A | ARSA | AR |
1133 | 異戊酸血症 | Isovaleric Acidemia | IVD | AR |
1134 | 嬰兒肝衰竭綜合症 1 型 | Infantile liver failure Syndrome 1 | LARS1 | AR |
1135 | 嬰兒紋狀體黑質變性 | Striatonigral Degeneration, Infantile | NUP62 | AR |
1136 | 嬰兒型低磷酸酯酶症 | Hypophosphatasia, infantile | ALPL | AR |
1137 | 嬰兒型泛發性動脉鈣化 2 型 | Generalized Arterial Calcification of Infancy 2 | ABCC6 | AR |
1138 | 嬰兒型肌張力低下伴精神運動發育退化和特殊面容 1 型 | Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 | NALCN | AR |
1139 | 嬰兒型肌張力低下伴精神運動發育退化和特殊面容 2 型 | Hypotonia Infantile, With Psychomotor Retardation And Characteristic facies 2 | UNC80 | AR |
1140 | 嬰兒型肌張力低下伴精神運動發育退化和特殊面容 3 型 | Hypotonia, Infantile, With Psychomotor Retardation And Characteristic facies 3 | TBCK | AR |
1141 | 嬰兒型帕金森樣張力失調 | Infantile Parkinsonism-Dystonia | SLC6A3 | AR |
1142 | 嬰兒型突發性心力衰竭 | Infantile Sudden Cardiac Failure | PPA2 | AR |
1143 | 嬰兒型唾液游離酸貯積症 | Free sialic acid storage Disease, infantile form | SLC17A5 | AR |
1144 | 嬰兒型小腦-視網膜退化症 | Infantile Cerebellar-Retinal Degeneration | ACO2 | AR |
1145 | 右心房異構 | Right Atrial Isomerism | GDF1 | AR |
1146 | 原發性常染色體隱性遺傳小頭畸形 10 型 | Primary Autosomal Recessive Microcephaly 10 | ZNF335 | AR |
1147 | 原發性常染色體隱性遺傳小頭畸形 15 型 | Primary Autosomal Recessive Microcephaly 15 | MFSD2A | AR |
1148 | 原發性常染色體隱性遺傳小頭畸形 17 型 | Primary Autosomal Recessive Microcephaly 17 | CIT | AR |
1149 | 原發性常染色體隱性遺傳小頭畸形 1 型 | Primary Autosomal Recessive Microcephaly 1 | MCPH1 | AR |
1150 | 原發性常染色體隱性遺傳小頭畸形 20 型 | Primary Autosomal Recessive Microcephaly 20 | KIF14 | AR |
1151 | 原發性常染色體隱性遺傳小頭畸形 2 型伴或不伴 皮質畸形 | Primary Autosomal Recessive Microcephaly 2, With Or Without Corticalmalformations | WDR62 | AR |
1152 | 原發性常染色體隱性遺傳小頭畸形 3 型 | Primary Autosomal Recessive Microcephaly 3 | CDK5RAP2 | AR |
1153 | 原發性常染色體隱性遺傳小頭畸形 4 型 | Primary Autosomal Recessive Microcephaly 4 | KNL1 | AR |
1154 | 原發性常染色體隱性遺傳小頭畸形 5 型 | Primary Autosomal Recessive Microcephaly 5 | ASPM | AR |
1155 | 原發性常染色體隱性遺傳小頭畸形 6 型 | Primary Autosomal Recessive Microcephaly 6 | CENPJ | AR |
1156 | 原發性常染色體隱性遺傳小頭畸形 7 型 | Primary Autosomal Recessive Microcephaly 7 | STIL | AR |
1157 | 原發性輔酶 Q10 缺乏症 1 型 | Primary Coenzyme Q10 Deficiency 1 | COQ2 | AR |
1158 | 原發性輔酶 Q10 缺乏症 4 型 | Primary Coenzyme Q10 Deficiency 4 | COQ8A | AR |
1159 | 原發性輔酶 Q10 缺乏症 6 型 | Primary Coenzyme Q10 Deficiency 6 | COQ6 | AR |
1160 | 原發性輔酶 Q10 缺乏症 7 型 | Primary Coenzyme Q10 Deficiency 7 | COQ4 | AR |
1161 | 原發性高草酸尿症 1 型 | Primary Hyperoxaluria TypeI | AGXT | AR |
1162 | 原發性開角型青光眼 3A 型 | Primary Open Angle Glaucoma 3A | CYP1B1 | AR |
1163 | 原發性肉碱缺乏症 | Primary Carnitine Deficiency | SLC22A5 | AR |
1164 | 遠端關節攣縮 5D 型 | Distal Arthrogryposis Type 5D | ECEL1 | AR |
1165 | 遠端腎小管性酸中毒伴溶血性貧血 | Distal Renal Tubular Acidosis with Hemolytic Anemia | SLC4A1 | AR |
1166 | 早髮型肌病、無反射、呼吸窘迫及吞咽困難 | Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia | MEGF10 | AR |
1167 | 早髮型進行性腦病 | Encephalopathy, Progressive, Early-onset, with Brain Atrophy and Thin Corpus Callosum | TBCD | AR |
1168 | 早發性肥胖伴腎上腺功能不全和紅發 | Obesity, Early-onset, with Adrenal Insufficiency and Red Hair | POMC | AR |
1169 | 早發幼兒癲癇性腦病 16 型 | Early Infantile Epileptic Encephalopathy 16 | TBC1D24 | AR |
1170 | 早發幼兒癲癇性腦病 25 型 | Early Infantile Epileptic Encephalopathy 25 | SLC13A5 | AR |
1171 | 早發幼兒癲癇性腦病 28 型 | Early Infantile Epileptic Encephalopathy 28 | WWOX | AR |
1172 | 早發幼兒癲癇性腦病 34 型 | Early Infantile Epileptic Encephalopathy 34 | SLC12A5 | AR |
1173 | 早發幼兒癲癇性腦病 37 型 | Early Infantile Epileptic Encephalopathy 37 | FRRS1L | AR |
1174 | 早發幼兒癲癇性腦病 38 型 | Early Infantile Epileptic Encephalopathy 38 | ARV1 | AR |
1175 | 早發幼兒癲癇性腦病 3 型 | Early Infantile Epileptic Encephalopathy 3 | SLC25A22 | AR |
1176 | 早發幼兒癲癇性腦病 44 型 | Early Infantile Epileptic Encephalopathy 44 | UBA5 | AR |
1177 | 早發幼兒癲癇性腦病 48 型 | Early Infantile Epileptic Encephalopathy 48 | AP3B2 | AR |
1178 | 早發幼兒癲癇性腦病 49 型 | Early Infantile Epileptic Encephalopathy 49 | DENND5A | AR |
1179 | 早發幼兒癲癇性腦病 8 型 | Early Infantile Epileptic Encephalopathy 8 | ARHGEF9 | XL |
1180 | 早發幼兒癲癇性腦病 9 型 | Early Infantile Epileptic Encephalopathy 9 | PCDH19 | XL |
1181 | 增生性血管病變和積水性無腦畸形 | Proliferative Vasculopathy And Hydranencephaly- Hydrocephaly Syndrome | FLVCR2 | AR |
1182 | 粘脂質貯積症 3α或 3β型 | Mucolipidosis III Alpha & Beta | GNPTAB | AR |
1183 | 粘脂質貯積症 3γ型 | Mucolipidosis III Gamma | GNPTG | AR |
1184 | 粘脂質貯積症 4 型 | Mucolipidosis IV | MCOLN1 | AR |
1185 | 長鏈 3-羥醯輔酶 A 脫氫酶缺乏症 | Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | HADHA | AR |
1186 | 著色性幹皮病 A 組 | Xeroderma Pigmentosum Group A | XPA | AR |
1187 | 著色性幹皮病 C 組 | Xeroderma Pigmentosum Group C | XPC | AR |
1188 | 著色性幹皮病 G 組 | Xeroderma Pigmentosum Group G | ERCC5 | AR |
1189 | 枕葉外皮畸形症 | Cortical Malformations, Occipital | LAMC3 | AR |
1190 | 支鏈酮酸脫氫酶激酶缺乏症 | Branched-chain Ketoacid Dehydrogenase Kinase Deficiency | BCKDK | AR |
1191 | 肢帶型肌營養不良 2A 型 | Limb-Girdle Muscular Dystrophy Type 2A | CAPN3 | AR |
1192 | 肢帶型肌營養不良 2B 型 | Limb-Girdle Muscular Dystrophy Type 2B | DYSF | AR |
1193 | 肢帶型肌營養不良 2C 型 | Limb-Girdle Muscular Dystrophy Type 2C | SGCG | AR |
1194 | 肢帶型肌營養不良 2D 型 | Limb-Girdle Muscular Dystrophy Type 2D | SGCA | AR |
1195 | 肢帶型肌營養不良 2E 型 | Limb-Girdle Muscular Dystrophy Type 2E | SGCB | AR |
1196 | 肢帶型肌營養不良 2F 型 | Limb-Girdle Muscular Dystrophy Type 2F | SGCD | AR |
1197 | 肢帶型肌營養不良 2G 型 | Limb-Girdle Muscular Dystrophy Type 2G | TCAP | AR |
1198 | 肢帶型肌營養不良 2H 型 | Limb-Girdle Muscular Dystrophy Type 2H | TRIM32 | AR |
1199 | 肢帶型肌營養不良 2S 型 | Limb-Girdle Muscular Dystrophy Type 2S | TRAPPC11 | AR |
1200 | 肢帶型肌營養不良 2T 型 | Limb-Girdle Muscular Dystrophy Type 2T | GMPPB | AR |
1201 | 肢端系膜發育不良 1 型 | Acromesomelic Dysplasia 1 | NPR2 | AR |
1202 | 肢端系膜發育不良 2A 型 | Acromesomelic Dysplasia 2A | GDF5 | AR |
1203 | 肢端系膜發育不良 3 型 | Acromesomelic Dysplasia 3 | BMPR1B | AR |
1204 | 肢根點狀軟骨發育不良 1 型 | Rhizomelic Chondro Dysplasia Punctata Type 1 | PEX7 | AR |
1205 | 肢根點狀軟骨發育不良 2 型 | Rhizomelic Chondro Dysplasia Punctata Type 2 | GNPAT | AR |
1206 | 肢根點狀軟骨發育不良 3 型 | Rhizomelic chondro Dysplasia Punctata, Type 3 | AGPS | AR |
1207 | 脂蛋白轉移酶缺乏症 | Lipoyltransferase 1 Deficiency | LIPT1 | AR |
1208 | 脂質先天性腎上腺增生 | Lipoid Congenital Adrenal Hyperplasia | STAR | AR |
1209 | 緻密性成骨不全 | Pycnodysostosis | CTSK | AR |
1210 | 致死性關節攣縮伴前角細胞病 | Lethal Arthrogryposis With Anterior Horn Cell Disease | GLE1 | AR |
1211 | 致死性膕翼狀胬肉綜合症 | Popliteal Pterygium Syndrome, Lethal Type | RIPK4 | AR |
1212 | 致死性先天攣縮綜合症 11 型 | Lethal congenital contracture Syndrome 11 | GLDN | AR |
1213 | 致死性先天攣縮綜合症 2 型 | Lethal Congenital Contracture Syndrome 2 | ERBB3 | AR |
1214 | 致死性先天攣縮綜合症 3 型 | Lethal Congenital Contracture Syndrome 3 | PIP5K1C | AR |
1215 | 致死性先天攣縮綜合症 7 型 | Lethal Congenital Contracture Syndrome 7 | CNTNAP1 | AR |
1216 | 致死性限制性皮膚病 | Lethal Restrictive Dermopathy | LMNA,ZMP STE24 | AR |
1217 | 智力發育障礙伴面部畸形、癲癇發作和遠端肢體異常 | Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies | OTUD6B | AR |
1218 | 智力發育障礙伴心律失常 | Intellectual Developmental Disorder with Cardiac Arrhythmia | GNB5 | AR |
1219 | 中鏈醯基輔酶 A 脫氫酶缺乏症 | Acyl-CoA Dehydrogenase Deficiency, Medium-Chain | ACADM | AR |
1220 | 中央凹發育不良 2 型 | Foveal Hypoplasia 2 | SLC38A8 | AR |
1221 | 中央核性肌病 2 型 | Centronuclear Myopathy 2 | BIN1 | AR |
1222 | 重型聯合免疫缺陷伴小頭畸形、生長遲緩及電離輻射敏感 | Severe Combined ImmunoDeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation | NHEJ1 | AR |
1223 | 重症聯合免疫缺陷(B 細胞和 NK 細胞 陽性、T 細胞陰性) | Severe Combined ImmunoDeficiency, T cell-negative, B-cell/natural killer-cell Positive | IL7R | AR |
1224 | 轉鈷胺素Ⅱ缺乏症 | Transcobalamin II Deficiency | TCN2 | AR |
1225 | 轉醛醇酶缺乏症 | Transaldolase Deficiency | TALDO1 | AR |
1226 | 自身免疫性多發內分泌腺病綜合症 1 型 | Autoimmune Polyendocrine Syndrome Type1 | AIRE | AR |
1227 | 綜合症型小眼畸形 12 型 | Syndromic Microphthalmia 12 | RARB | AR |
1228 | 綜合症型小眼畸形 9 型 | Microphthalmia, Syndromic 9 | STRA6 | AR |
1229 | 組織細胞增多-淋巴結病綜合症 | Histiocytosis-lymphadenopathy plus Syndrome | SLC29A3 | AR |
1230 | 左心發育不全綜合症 1 型 | Hypoplastic Left Heart Syndrome 1 | GJA1 | AR |
1231 | 左旋芳香族氨基酸脫羧酶缺乏症 | Aromatic L-Amino Acid Decarboxylase Deficiency | DDC | AR – |
參考資料
[1] Bell, Callum J.,et al. “Carrier testing for severe childhood recessive disease by next-generation sequencing. “Science translational medicine 3.65 (2011): 65ra4-65ra4.
[2] http://www.omim.org/statistics/entry
[3] 所列疾病携帶者率僅適用於中國人群。The morbidity & carrier rates are only applicable to the Chinese population.