NEWS CENTER
新聞與媒體
| No. | 英文疾病名稱 | 中文疾病名稱 |
| 1 | 3-methylglutaconic aciduria type 1 | 1型3-甲基戊二酸尿症 |
| 2 | 6-deficiency pyruvyl-tetrahydropterin synthase | 6-缺陷丙酮醯四氫蝶呤合酶 |
| 3 | ABO isoimmunization | ABO同種免疫反應 |
| 4 | Achondroplasia | 軟骨發育不全 |
| 5 | Achromatopsia | 全色盲 |
| 6 | Aciduria Argininosuccinic | 精氨酸琥珀酸尿症 |
| 7 | Acyl-CoA dehydrogenase deficiency | 醯基輔酶A脫氫酶缺陷 |
| 8 | Adenosine deaminase deficiency | 腺苷脫氨酶缺陷 |
| 9 | Adrenoleukodystrophy | 腎上腺腦白質營養不良 |
| 10 | Adult syndrome | 成人史迪爾氏綜合征 |
| 11 | Aicardi Goutieres Syndrome | Aicardi-Goutieres綜合征 |
| 12 | Aicardi-Goutières syndrome | Aicardi-Goutieres綜合征（AGS） |
| 13 | Alagille syndrome | 阿拉吉歐綜合征 |
| 14 | Albright syndrome | Albright氏綜合征（纖維性骨失養症） |
| 15 | Alpha thalassemia | α地中海貧血 |
| 16 | Alpha-1 antitrypsin deficiency | α-1抗胰蛋白酶缺陷 |
| 17 | Alpha-thalassemia syndrome X-linked intellectual disability | α-地中海貧血綜合征 （X染色體遺傳）智力障礙 |
| 18 | Alport syndrome | 艾柏綜合征 |
| 19 | Alström syndrome | 阿爾斯特倫綜合征 |
| 20 | Amyotrophic Lateral Sclerosis | 肌萎縮側索硬化症 |
| 21 | Amyotrophic lateral sclerosis familiar | 肌萎縮側索硬化，家族性 |
| 22 | Androgen insensitivity syndrome | 雄激素不敏感綜合征 |
| 23 | Aniridia | 無虹膜綜合征 |
| 24 | APECED syndrome | 自身免疫性多發性內分泌病-念珠菌病-外胚層營養不良表觀 |
| 25 | Apparent mineralocorticoid excess | 表觀鹽皮質激素過多 |
| 26 | Arterial tortuosity syndrome | 動脈迂曲綜合征 |
| 27 | Ataxia-oculomotor apraxia type 1 | 1型共濟失調-動眼神經失用症 |
| 28 | ATIC deficiency | ATIC缺陷 |
| 29 | Autism spectrum disorder | 自閉症譜系障礙 |
| 30 | Autosomal dominant limb-girdle muscular dystrophy type 1B | 常染色體顯性肢帶肌營養不良1B型 |
| 31 | Autosomal recessive limb-girdle muscular dystrophy | 常染色體隱性肢帶肌營養不良 |
| 32 | Autosomal recessive polycystic kidney disease | 常染色體隱性多囊腎病 |
| 33 | Band like calcification polymicrogyria | 多小腦回帶狀鈣化症 |
| 34 | Bardet-Biedl syndrome | Bardet-Biedl綜合征 |
| 35 | Bartter syndrome | 巴特氏綜合征 |
| 36 | Best Macular dystrophy | 貝斯特氏症黃斑營養不良 |
| 37 | Beta Thalassemia | β地中海貧血 |
| 38 | Biotinidase deficiency | 生物素酶缺陷 |
| 39 | Biotin-responsive basal ganglia disease | 生物素反應性基底節病 |
| 40 | Blackfan-Diamond disease | 先天性純紅細胞再生障礙性貧血 |
| 41 | Blepharophimosis-epicanthus inversus-ptosis syndrome | 瞼裂肥大-內眥贅皮-上瞼下垂綜合征 |
| 42 | Bruck syndrome | 布魯克綜合征 |
| 43 | Brugada syndrome | 布魯加達綜合征 |
| 44 | Bruton type agammaglobulinemia | 布魯頓氏低免疫球蛋白血症 |
| 45 | CADASIL | 體顯性腦動脈血管病變合併皮質下腦梗及腦白質病變 |
| 46 | Canavan Disease | 卡拿彎病 |
| 47 | Carbamoyl-phosphate synthase deficiency |
氨甲醯磷酸合酶缺乏症 |
| 48 | Carbonic anhydrase deficiency type 2 | 碳酸酐酶缺乏症2型 |
| 49 | Cartilage-hair hypoplasia | 軟骨-毛髮發育不全 |
| 50 | Catecholaminergic polymorphic ventricular tachycar |
兒茶酚胺能多形性室性心動過速 |
| 51 | Caveolinopathy | 小窩蛋白病 |
| 52 | CDK9 SYNDROME | CDK9綜合征 |
| 53 | Central core myopathy | 中心性肌病 |
| 54 | Cerebellar hypoplasia | 小腦發育不全 |
| 55 | Charcot Marie Tooh 2A | 第二型遺傳性運動感覺神經病變 |
| 56 | Charcot Marie Tooh X-linked | 遺傳性運動感覺神經病變（X染色體遺傳） |
| 57 | Charcot Marie Tooth 1A | 1A型遺傳性運動感覺神經病變 |
| 58 | Charcot Marie Tooth 1B | 1B型遺傳性運動感覺神經病變 |
| 59 | Charcot Marie Tooth 2K | 2K型遺傳性運動感覺神經病變 |
| 60 | Charcot Marie Tooth 4C | 4C型遺傳性運動感覺神經病變 |
| 61 | Charcot Marie Tooth 4D | 4D型遺傳性運動感覺神經病變 |
| 62 | Chondrodysplasia punctata | 軟骨發育異常 |
| 63 | Chondrodysplasia punctata type 1 Rhizomelic |
肢近端型點狀軟骨發育不良 |
| 64 | Chondrodysplasia type Grebe | 軟骨發育不良 Grebe 型 |
| 65 | Choroideremia | 脈絡膜缺失症 |
| 66 | Chronic granulomatosis | 慢性肉芽腫病 |
| 67 | Citrullinemia | 瓜胺酸血症 |
| 68 | Cleidocranial dysostosis | 鎖骨顱骨成骨不全症 |
| 69 | Clouston syndrome | Clouston綜合征（指甲/角質/毛髮） |
| 70 | COFS syndrome | 腦眼面骨骼綜合征 |
| 71 | Cohen syndrome | 科恩綜合征 |
| 72 | Combined oxidative phosphorylation deficiency | 複合氧化磷酸化缺陷 |
| 73 | Congenital adrenal hyperplasia | 先天性腎上腺增生 |
| 74 | Congenital cataracts | 先天性白內障 |
| 75 | Congenital cerebellar ataxia | 先天性小腦共濟失調 |
| 76 | Congenital heart disease | 先天性心臟病 |
| 77 | Congenital ichthyosis | 先天性魚鱗癬 |
| 78 | Congenital lamellar ichthyosis | 先天性板層狀魚鱗病 |
| 79 | Congenital muscular dystrophy | 先天性肌肉萎縮症 |
| 80 | Congenital muscular dystrophy by merosin Deficit |
先天性肌營養不良症 |
| 81 | Congenital muscular dystrophy megaconial | 先天性肌肉萎縮症 |
| 82 | Congenital myasthenic syndromes with glycosylation defect | 先天性肌無力綜合征伴糖基化缺陷 |
| 83 | Congenital nephrotic syndrome | 先天性腎病綜合征 |
| 84 | Congenital tufting enteropathy | 先天性叢狀腸病 |
| 85 | Corneal dystrophy | 角膜營養不良 |
| 86 | Cornelia de Lange syndrome | 狄蘭氏綜合征 |
| 87 | Creutzfeldt-Jakob disease | 克雅氏症 |
| 88 | Cystic fibrosis | 囊性纖維化 |
| 89 | Cystoid macular dystrophy | 囊樣黃斑營養不良 |
| 90 | Cytomegalic congenital adrenal hypoplasia | 巨細胞性先天性腎上腺發育不全 |
| 91 | D,L-2-hydroxyglutaric aciduria | L-2-羥基戊二酸尿症 |
| 92 | Darier disease | 毛囊角化病 |
| 93 | Deficiency of glucose 6-phosphate dehydrogenase | 葡萄糖6-磷酸脫氫酶缺乏 |
| 94 | Dehydrated hereditary stomatocytosis | 脫水遺傳性口細胞增多症 |
| 95 | Diastrophic dysplasia | 畸形發育不良 |
| 96 | Diffuse gastric cancer | 彌漫性胃癌 |
| 97 | Dihydropyrimidine dehydrogenase deficiency | 二氫嘧啶脫氫酶缺乏症 |
| 98 | Dominant polycystic kidney disease | 顯性多囊腎病 |
| 99 | Duchenne muscular dystrophy / Becker | 杜氏肌營養不良症/貝克 |
| 100 | Duffy isoimmunization | Duffy同種免疫反應 |
| 101 | Dyskeratosis congenita, X-linked | 先天性角化不良症（X染色體遺傳） |
| 102 | Dystrophic epidermolysis bullosa | 營養不良大皰性表皮松解症 |
| 103 | Ectodermic dysplasia | 外胚層發育不良 |
| 104 | EIF2B3-related leukodystrophy | EIF2B3腦白質失養症 |
| 105 | Ellis-van Creveld syndrome | 埃利偉氏綜合征 |
| 106 | Emery-Dreifuss muscular dystrophy | 埃默里-德雷弗斯肌營養不良症 |
| 107 | Epileptic encephalopathy | 癲癇性腦病 |
| 108 | Fabry disease | 法布瑞氏症 |
| 109 | Facio-scapulo-humeral dystrophy | 面肩胛肱肌失養症 |
| 110 | Factor XIII deficiency | 先天性第十三因數缺乏症 |
| 111 | Familial adenomatous polyposis | 家族性腺瘤性息肉病 |
| 112 | Familial amyloidotic polyneuropathy | 家族性澱粉樣變性多發性神經病 |
| 113 | Familial dysautonomia | 家族性神經異常 |
| 114 | Familial hyperaldosteronism | 家族性高醛甾酮症 |
| 115 | Familial hypertrophic cardiomyopathy | 家族性肥厚性心肌病 |
| 116 | Familial idiopathic steroid-resistant nephrotic syndrome with |
家族性特發性類固醇抵抗性腎病綜合征 |
| 117 | focal segmental hyalinosis | 局灶性節段性透明質病 |
| 118 | Familial isolated arrhythmogenic right ventricular dysplasia | 家族性孤立性心律失常性右心室發育不良 |
| 119 | Familial isolated dilated cardiomyopathy | 家族性孤立擴張型心肌病 |
| 120 | Familial mediterranian fever | 家族性地中海熱 |
| 121 | Familial spastic paraplegia | 家族性痙攣截癱 |
| 122 | Family thoracic aortic aneurysm | 家庭胸主動脈瘤 |
| 123 | Fanconi Anemia | 範可尼貧血 |
| 124 | Fatal familial insomnia | 致命性家族性失眠症 |
| 125 | Fatal mutiple mitochondrial dysfunctions syndrome | 致命的多重線粒體功能障礙綜合征 |
| 126 | FGFR1 related disorder | FGFR1相關疾病 |
| 127 | Focal dermal hypoplasia | 局灶性真皮發育不全 |
| 128 | Fragile X syndrome | 脆性X染色體綜合征 |
| 129 | Fraser syndrome | 弗雷澤綜合征 |
| 130 | Galactosemy | 半乳糖血症 |
| 131 | Gangliosidosis | 神經節苷脂儲積症 |
| 132 | Gaucher's Disease | 高歇氏病 |
| 133 | Geleophysic dysplasia | 凝膠樣體格發育不良 |
| 134 | Gerstmann-Straussler-Scheinker syndrome | 格斯特曼綜合征 |
| 135 | Glanzmann's thrombasthenia | 血小板無力症 |
| 136 | Glycine encephalopathy | 甘氨酸腦病 |
| 137 | Glycogen Storage Disease | 糖原貯藏病 |
| 138 | Glycogenosis due to glucose-6-phosphatase deficiency | 葡萄糖-6-磷酸酶缺乏引起的糖原病 |
| 139 | GNE-related disorders | GNE相關病變 |
| 140 | Gorlin syndrome | 戈林綜合征 |
| 141 | GSS syndrome | GSS綜合征 |
| 142 | Harlequin type ichthyosis congenital | 先天性小丑型魚鱗病 |
| 143 | Hemolytic anemia due to red cell pyruvate kinase deficiency | 紅細胞丙酮酸激酶缺乏引起的溶血性貧血 |
| 144 | Hemophagocytic lymphohistiocytosis | 噬血細胞性淋巴組織細胞增多症 |
| 145 | Hemophilia A | A型血友病 |
| 146 | Hemophilia B | B型血友病 |
| 147 | Hereditary angioedema | 遺傳性血管性水腫 |
| 148 | Hereditary breast cancer | 遺傳性乳腺癌 |
| 149 | Hereditary chronic pancreatitis | 遺傳性慢性胰腺炎 |
| 150 | Hereditary fructose intolerance | 遺傳性果糖不耐症 |
| 151 | Hereditary hearing loss | 遺傳性聽力損失 |
| 152 | Hereditary hemorrhagic telangiectasia | 遺傳性出血性毛細血管擴張症 |
| 153 | Hereditary multiple exostosis | 遺傳性多發性外生性增生 |
| 154 | Hereditary Parkinson | 遺傳性帕金森 |
| 155 | Hereditary spherocytosis | 遺傳性球形紅細胞症 |
| 156 | Hermansky-Pudlak syndrome | 赫爾曼斯基-普德拉克綜合征 |
| 157 | Hipomielinizante leukodystrophy | 異染性腦白質營養不良 |
| 158 | HLA typing | HLA分型 |
| 159 | Holoprosencephaly | 無腦門畸形 |
| 160 | Homocystinuria | 同型胱氨酸尿症 |
| 161 | Hunters Syndrome | 漢特氏症 |
| 162 | Huntington | 亨丁頓舞蹈症 |
| 163 | Hurler Syndrome | Hurler氏病 |
| 164 | Hyper IgD syndrome | 高IgD綜合征 |
| 165 | Hyperinsulinism | 高胰島素血症 |
| 166 | Hyperkalemic periodic paralysis | 高鉀性週期性麻痹 |
| 167 | Hypochondroplasia | 軟骨發育不良 |
| 168 | Hypohidrotic ectodermal dysplasia | 少汗性外胚層發育不良 |
| 169 | Hypoparathyroidism-retardation-dysmorphism syndrom | 甲狀旁腺功能減退症發育遲緩畸形綜合征 |
| 170 | Hypophosphatemic rickets X-linked | 低磷血症性軟骨病（X染色體遺傳） |
| 171 | Idiopathic dystonia | 特發性肌張力障礙 |
| 172 | Incontinentia pigmenti | 色素性失禁 |
| 173 | Infantile liver failure syndrome 1 | 1型嬰兒肝衰竭綜合征 |
| 174 | intestinal atresia | 腸閉鎖 |
| 175 | IPEX syndrome | IPEX綜合征（X連鎖多內分泌腺病腸病伴免疫失調） |
| 176 | Isolated sulfite oxidase deficiency | 孤立的亞硫酸鹽氧化酶缺乏症 |
| 177 | isovaleric acidemia | 異戊酸血症 |
| 178 | Jeune asphyxiating thoracic dystrophy | 窒息性胸腔失養症 |
| 179 | Joubert syndrome | 茹貝爾症候群 |
| 180 | Junctional epidermolysis bullosa | 交界性大皰性表皮松解症 |
| 181 | Kell isoimmunization | Kell同種免疫反應 |
| 182 | Kennedy disease | 甘迺迪病 |
| 183 | Krabbe disease | 克拉布病 |
| 184 | L1 syndrome | L1綜合征 |
| 185 | L-aromatic amino acid decarboxylase deficiency | L-芳香族氨基酸脫羧酶缺乏症(AADC缺乏症) |
| 186 | Larsen syndrome | 拉森綜合征 |
| 187 | LCHADD | 長鏈脂肪酸代謝異常 |
| 188 | Leber congenital amaurosis | 萊伯氏先天性黑曚症 |
| 189 | Leigh disease with leukodystrophy | 亞急性壞死性腦脊髓病伴白質營養不良 |
| 190 | Leigh syndrome | 亞急性壞死性腦脊髓病 |
| 191 | Leigh-like syndrome | 類壞死性腦脊髓病 |
| 192 | Leopard syndrome | 豹皮綜合征（多發性黑痣綜合征） |
| 193 | Leprechaunism | 矮妖精貌綜合征 |
| 194 | Leri Weill Dyschondrosteosis | Léri-Weill軟骨骨生成障礙綜合症 |
| 195 | Leucodystrophy | 腦白質失養症 |
| 196 | Leukoencephalopathy with vanishing white matter | 白質消融性白質腦病 |
| 197 | Li-Fraumeni syndrome | 李-佛美尼綜合征 |
| 198 | Limb girdle muscular dystrophy | 四肢帶狀肌營養不良 |
| 199 | Lipofuscinosis | 脂褐質病 |
| 200 | Lissencephaly type 1 (X-chromosome) | 1型無腦畸形（X染色體） |
| 0.201 | Long QT syndrome | 長QT綜合征 |
| 202 | Lowe syndrome | 眼腦腎綜合征 |
| 203 | Lymphedema-Distichiasis | 淋巴水腫綜合征 |
| 204 | Lynch syndrome | 林奇綜合征 |
| 205 | Macular dystrophy | 黃斑營養不良 |
| 206 | Marfan syndrome | 馬凡氏症 |
| 207 | McArdle disease | 麥卡德爾病 |
| 208 | Menkes disease | 孟克斯氏綜合征 |
| 209 | Mental Retardation | 智力遲鈍 |
| 210 | Mental retardation syndrome - strabismus | 精神發育遲緩綜合征-斜視 |
| 211 | Merkel-Gruber syndrome | 梅克爾綜合征 |
| 212 | Metachromatic leucodystrophy | 中色性白質營養不良 |
| 213 | Methyl malonic acidemia | 甲基丙二酸血症 |
| 214 | Microcephaly | 小頭畸形 |
| 215 | Microphthalmia | 小眼症 |
| 216 | Microvillus inclusion disease | 微絨毛包涵體病 |
| 217 | Mitochondrial complex IV deficiency | 線粒體複合體IV缺乏 |
| 218 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | 線粒體短鏈烯醯基輔酶A水合酶1缺乏症 |
| 219 | Mitochrondrial DNA depletion syndrome | 線粒體DNA耗竭綜合征 |
| 220 | Molybdenum cofactor deficiency | 鉬輔因數缺乏 |
| 221 | Morbus-Crouzon syndrome | Crouzon氏綜合征 |
| 222 | Mucin-1 kidney disease | 黏蛋白-腎病 |
| 223 | Mucolipidosis II | 第二型粘液脂肪代謝障礙 |
| 224 | Mucopolysaccharidosis I | I型粘多糖病 |
| 225 | Mucopolysaccharidosis II | II型粘多糖病 |
| 226 | Mucopolysaccharidosis IIIA | III型粘多糖病 |
| 227 | Mucopolysaccharidosis IV-A | IV型多糖病 |
| 228 | Muenke syndrome | 穆恩克綜合征 |
| 229 | Multiple Endocrine Neoplasia 1 | 1型內分泌腫瘤 |
| 230 | Multiple Endocrine Neoplasia 2A | 2A型內分泌腫瘤 |
| 231 | Multiple Endocrine Neoplasia 2B | 2B型內分泌腫瘤 |
| 232 | Multiple intestinal atresia | 多發性腸閉鎖 |
| 233 | Myoclonic dystonia | 肌陣攣性肌張力障礙 |
| 234 | N-acetyl-alpha-D-galactosaminidase deficiency | N-乙醯-α-D-氨基半乳糖缺乏症 |
| 235 | Nail-patella syndrome | 指甲髕骨綜合征 |
| 236 | Nanoftalmia | 小眼球症 |
| 237 | Nemaline myopathy | 杆狀體肌病 |
| 238 | Neurofibromatosis 1 | 1型神經纖維瘤病 |
| 239 | Neurofibromatosis 2 | 2型纖維瘤病 |
| 240 | Niemann Pick A/B syndrome | 尼曼匹克氏症A型和B型綜合征 |
| 241 | Niemann Pick C syndrome | 尼曼匹克氏症C型合征 |
| 242 | Nonketotic hyperglycinemia | 非酮症性高血糖血症 |
| 243 | Nonspecific X-linked intellectual deficit | 非特異性X染色體遺傳智力缺陷 |
| 244 | Noonan Syndrome | 努南綜合征 |
| 245 | Norrie disease | 諾裡病 |
| 246 | Nuclear cataract | 核性白內障 |
| 247 | Oculocutaneous albinism | 眼部皮膚白化病 |
| 248 | Oculo-dental-digital dysplasia | 眼-牙-指發育不良 |
| 249 | Ohtahara Syndrome | Ohtahara綜合征（嬰兒早期癲癇性腦病變） |
| 250 | Ornithine transcarbamylase deficiency | 鳥氨酸轉碳澱粉酶缺乏症 |
| 251 | Osteochondrodysplasia | 骨軟骨發育不良 |
| 252 | Osteogenesis imperfecta | 成骨不全 |
| 253 | Osteopetrosis | 骨質疏鬆症 |
| 254 | Oxoglutaricaciduria | 草酸尿 |
| 255 | Papillo-renal syndrome | 乳頭腎綜合征 |
| 256 | Paraganglioma/Pheochromocytoma | 副神經節瘤/嗜鉻細胞瘤 |
| 257 | Partial STAT1 deficiency | STAT1部分缺失 |
| 258 | Pelizaeus Merzbacher | 佩梅病（慢性兒童型腦硬化症） |
| 259 | Pelizaeus Merzbacher-like | 類佩梅病 |
| 260 | Peraganglioma / pheochromocytoma | 瘤/嗜鉻細胞瘤 |
| 261 | Periventricular Heterotopia | 腦室周圍異位 |
| 262 | Peters plus syndrome | 彼得斯綜合征 |
| 263 | Peutz Jeghers syndrome | 黑斑息肉綜合征 |
| 264 | Pfeiffer syndrome | 菲佛氏症 |
| 265 | Phenylketonuria | 苯丙酮尿症 |
| 266 | Pompe disease | 龐貝氏症 |
| 267 | Pressure sensitive neuropathy | 壓力性敏感神經病 |
| 268 | Primary ciliary dyskinesia | 原發性纖毛運動障礙 |
| 269 | Progressive external ophthalmoplegia | 進行性外眼肌麻痹 |
| 270 | Progressive familial intrahepatic cholestasis | 進行性家族性肝內膽汁淤積症 |
| 271 | Propionic acidemia | 丙酸血症 |
| 272 | Proximal myopathy with extrapyramidal signs | 具有錐體外系征的近端肌病 |
| 273 | Pseudoachondroplasia | 假性軟骨發育不全 |
| 274 | Pseudohermaphroditism | 假兩性畸形 |
| 275 | Pyridoxal phosphate-responsive seizures | 磷酸吡哆醇反應性癲癇發作 |
| 276 | Pyruvate carboxylase deficiency | 丙酮酸羧化酶缺乏 |
| 277 | Rendu-Osler-Weber disease | 郎-奧韋綜合征 |
| 278 | Retinitis Pigmentosa | 色素性視網膜炎 |
| 279 | Retinoblastoma | 視網膜母細胞瘤 |
| 280 | RhCE isoimmunization | RhCE同種免疫反應 |
| 281 | RhD isoimmunization | RhD同種免疫反應 |
| 282 | Sandhoff disease | Sandhoff病 |
| 283 | Schaaf-Yang syndrome | Schaaf-Yang綜合征 |
| 284 | Schwannomatosis | 神經鞘瘤病 |
| 285 | Sensory ataxic neuropathy - dysarthria - ophthalmo | 感覺性共濟失調性神經病-構音障礙-眼科 |
| 286 | Severe combined immunodeficiencyT-B + X-linked | 嚴重聯合免疫缺陷T-B+X染色體遺傳 |
| 287 | Shwachman-Diamond syndrome | 史黛氏症 |
| 288 | Sickle cell anemia | 鐮狀細胞貧血 |
| 289 | Simple epidermolysis bullosa | 單純性大皰性表皮松解症 |
| 290 | Simpson-Golabi-Behmel syndrome | Simpson-Golabi-Behmel綜合征 |
| 291 | Smith Lemli Opitz syndrome | Smith-Lemli-Opitz綜合征 |
| 292 | Spinal Muscular Atrophy | 脊髓性肌肉萎縮 |
| 293 | Spinocerebellar ataxia | 脊髓小腦共濟失調症 |
| 294 | spinocerebellar ataxia type 36 | 脊髓小腦共濟失調36型 |
| 295 | Spondylometaphyseal dysplasia | 脊椎骨骺發育不良 |
| 296 | Stargardt's Disease | 斯特格氏黃斑失養症 |
| 297 | Steinert myotonic dystrophy | Steinert病-強直性肌營養不良 |
| 298 | Steroid resistant nephrotic syndrome | 類固醇抵抗性腎病綜合征 |
| 299 | Stickler syndrome type 1 | 1型Stickler綜合征 |
| 300 | Stuve-Wiedemann syndrome | 斯圖維-維德曼綜合征 |
| 301 | Synaptic congenital myasthenic syndromes | 突觸性先天性肌無力綜合征 |
| 302 | Syndrome type 2 lethal congenital contracture | 2型致死性先天性攣縮綜合征 |
| 303 | Syndrome Van der Knapp | 範德克納普綜合征 |
| 304 | Tay Sachs | 泰伊-薩克斯二氏病 |
| 305 | Temtamy's syndrome | Temtamy綜合征 |
| 306 | Thymine-uraciluria | 胸腺嘧啶-尿嘧啶尿 |
| 307 | Tibial muscular dystrophy | 脛骨肌營養不良 |
| 308 | Treacher Collins syndrome | 特雷徹·柯林斯綜合征 |
| 309 | Tuberous sclerosis | 結節性硬化 |
| 310 | Tyrosinemia type I | Ⅰ型酪氨酸血症 |
| 311 | Urine Disease smelling maple syrup | 楓糖尿症 |
| 312 | Usher syndrome | Usher綜合征 |
| 313 | Van den Ende-Gupta syndrome | Van den Ende-Gupta綜合征 |
| 314 | Van der Woude syndrome | 範德沃特綜合征 |
| 315 | Variable PenetranceHypertrophic Cardiomyopthy | 可變滲透性肥厚型心肌病 |
| 316 | Vitelliform macular dystrophy | 葡萄狀黃斑營養不良 |
| 317 | Von Hippel Lindau syndrome | 林島綜合征 |
| 318 | Walker-Warburg syndrome | Walker-Warburg綜合征 |
| 319 | Warburg micro syndrome | Warburg微綜合征 |
| 320 | Wiskott-Aldrich syndrome | 維斯科特-奧爾德里奇綜合症 |
| 321 | Wolman syndrome | 沃爾曼綜合征 |
| 322 | Woodhouse-Sakati syndrome | Woodhouse-Sakati綜合征 |
| 323 | X-linked adrenoleukodystrophy | X染色體遺傳腎上腺腦白質營養不良 |
| 324 | X-linked Agammaglobulinemia | X染色體遺傳無丙種球蛋白血症 |
| 325 | Zellweger syndrome | 齊薇格綜合征 |
