| DISORDER | 疾病 | Inheritance |
| 3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) lyase deficiency | 3-羥基-3-甲基戊二酰輔酶A(HMG-CoA)裂解酶缺乏症 | AR |
| 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC1-related) | 三甲基巴豆醯輔酶A梭化酶缺乏症(MCC1相關) | AR |
| 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC2-related) | 三甲基巴豆醯輔酶A梭化酶缺乏症(MCC2相關) | AR |
| ABCC8-related disorders | ABCC8相關疾病 | AR |
| Abetalipoproteinemia | 無β脂蛋白血症 | AR |
| ACAD9 deficiency | 醯輔酶A去氫酶9缺乏症≤1 in 500 | AR |
| Achromatopsia (CNGB3-related) | 全色盲(CNGB3相關) | AR |
| Acrodermatitis enteropathica | 腸源性肢端皮炎 | AR |
| Adenosine deaminase deficiency | 腺苷脱氨酶缺乏症 | AR |
| Aicardi-Goutieres syndrome (SAMHD1-related) | Aicardi-Goutieres綜合症(SAMHD1相關) | AR |
| Aldosterone synthase deficiency | 醛固酮合成酶缺乏症 | AR |
| Mitochondrial trifunctional protein deficiency, HADHB-related | 線粒體三功能蛋白缺乏症 (HADHB-相關) | AR |
| Alpha-1 antitrypsin deficiency | α1-抗胰蛋白酶缺乏症 | AR |
| Alpha-mannosidosis | α-甘露糖苷貯積症 | AR |
| Alpha-thalassemia | 甲型地中海貧血 | AR |
| Alpha-thalassemia X-linked intellectual disability syndrome | 伴甲型地中海貧血性聯遺傳智力低下綜合症 | X-linked |
| Alport Syndrome (COL4A3-related) | 亞伯氏綜合症(COL4A3相關) | AR |
| Alport Syndrome (COL4A4-related) | 亞伯氏綜合症(COL4A4相關) | AR |
| Alport Syndrome, X-linked (COL4A5-related) | 性聯遺傳亞伯氏綜合症(COL4A5相關) | X-linked |
| Alström syndrome | 阿爾斯特倫綜合症 | AR |
| Andermann syndrome | 安德曼綜合症 | AR |
| Arginase deficiency | 精氨酸酶缺乏症 | AR |
| Argininosuccinic aciduria | 精氨基琥珀酸尿症 | AR |
| Aromatase deficiency | 芳香化酶缺乏症 | AR |
| Asparagine synthetase deficiency | 天門冬醯胺合成酶缺乏症 | AR |
| Aspartylglucosaminuria | 天門冬氨酸葡萄糖胺尿症 | AR |
| Ataxia with vitamin E deficiency | 共濟失調伴選擇性
維他命E缺乏 | AR |
| Ataxia-telangiectasia | 共濟失調微血管擴張症 | AR |
| Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia | 自體免疫性多內分泌病變伴陰道念珠菌感染伴外胚層增生不良症 | AR |
| Autosomal recessive deafness 77 | 常染色體隱性77型失聰 | AR |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) | Charlevoix-Saguenay常染色體隱性痙攣性共濟失調 | AR |
| Bardet-Biedl syndrome (BBS10-related) | 巴德-畢德氏綜合症(BBS10相關) | AR |
| Bardet-Biedl syndrome (BBS12-related) | 巴德-畢德氏綜合症(BBS12相關) | AR |
| Bartter syndrome type 4A | 巴特氏綜合症第4A型 | AR |
| BBS1-related disorders | BBS1相關疾病 | AR |
| BBS2-related disorders | BBS2相關疾病 | AR |
| Bernard-Soulier syndrome (GP9-related) | Bernard-Soulier綜合症(GP9相關) | AR |
| Beta-ketothiolase deficiency | β-酮硫解酶缺乏症 | AR |
| Biotinidase deficiency | 生物素酶缺乏症 | AR |
| Bloom syndrome | 布隆氏綜合症 | AR |
| Canavan disease | 海綿狀腦白質營養不良症 | AR |
| Carbamoylphosphate synthetase I deficiency | 氨甲酰磷酸合成酶I缺乏症 | AR |
| Carnitine palmitoyltransferase I deficiency | 肉鹼棕櫚醯基轉移酶I缺乏症 | AR |
| Carnitine palmitoyltransferase II deficiency | 肉鹼棕櫚醯基轉移酶II缺乏症 | AR |
| Carpenter syndrome (RAB23-related) | Carpenter綜合症(RAB23相關) | AR |
| Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders | 軟骨-毛髮發育不全-異常增生譜系疾病 | AR |
| Cerebrotendinous xanthomatosis | 腦腱性黃瘤症 | AR |
| CFTR-related disorders (including cystic fibrosis) | CFTR相關疾病(包括囊狀纖維化) | AR |
| Charcot-Marie-Tooth disease (NDRG1-related) | 進行性神經性腓骨萎縮症(NDRG1相關) | AR |
| Charcot-Marie-Tooth disease, X-linked (GJB1-related) | 進行性神經性腓骨萎縮症性聯遺傳(GJB1相關) | X-linked |
| Chorea-acanthocytosis | 舞蹈棘狀紅血球症 | AR |
| Choroideremia | 脈絡膜缺失症 | X-linked |
| Chronic granulomatous disease (CYBA-related) | 慢性肉芽腫病(CYBA相關) | AR |
| Chronic granulomatous disease (CYBB-related) | 慢性肉芽腫病(CYBB相關) | X-linked |
| Citrin deficiency | 希特林蛋白缺陷症 | AR |
| Citrullinemia type 1 | 瓜胺酸血症第1型 | AR |
| Cockayne syndrome type A | 柯凱因氏綜合症A型 | AR |
| Cockayne syndrome type B | 柯凱因氏綜合症B型 | AR |
| Cohen syndrome | 科恩綜合症 | AR |
| Combined malonic and methylmalonic aciduria (ACSF3-related) | 丙二酸及甲基丙二酸聯合尿症(ACSF3相關) | AR |
| Combined oxidative phosphorylation deficiency (GFM1-related) | 結合性氧化磷酸化缺乏症(GFM1相關) | AR |
| Combined oxidative phosphorylation deficiency (TSFM-related) | 結合性氧化磷酸化缺乏症(TSFM相關) | AR |
| Combined pituitary hormone deficiency (LHX3-related) | 結合性腦下垂體賀爾蒙缺失(LHX3相關) | AR |
| Combined pituitary hormone deficiency (PROP1-related) | 結合性腦下垂體賀爾蒙缺失(PROP1相關) | AR |
| Congenital adrenal hyperplasia due to 11-beta-hydroxylase-deficiency | 先天性腎上腺增生症-11β羥化酶缺失症 | AR |
| Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 先天性腎上腺增生症-21羥化酶缺失症 | AR |
| Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency | 先天性腎上腺增生症3β羥基類固醇脫氫酶缺乏症2型 | AR |
| Congenital amegakaryocytic thrombocytopenia | 先天性巨核細胞缺乏血小板低下症 | AR |
| Congenital disorder of glycosylation (ALG6-related) | 先天性醣基化疾病(ALG6相關) | AR |
| Congenital disorder of glycosylation (MPI-related) | 先天性醣基化疾病(MPI相關) | AR |
| Congenital disorder of glycosylation (PMM2-related) | 先天性醣基化疾病(PMM2相關) | AR |
| Congenital ichthyosis (TGM1-related) | 先天性魚鱗癬(TGM1相關) | AR |
| Congenital insensitivity to pain with anhidrosis | 先天性痛覺不敏感併無汗症 | AR |
| Congenital myasthenic syndrome (CHRNE-related) | 先天性肌無力綜合症(CHRNE相關) | AR |
| Corneal dystrophy and perceptive deafness | 角膜失養和感音性失聰症 | AR |
| CYP17A1-related disorders | CYP17A1相關疾病 | AR |
| Cystinosis | 胱胺酸症 | AR |
| DHDDS-related disorders | DHDDS相關疾病 | AR |
| Dihydrolipoamide dehydrogenase deficiency (DLD) | 二氫硫辛醯胺脫氫酶缺乏症(DLD) | AR |
| DMD-related dystrophinopathy | 裘馨氏肌肉萎縮症(DMD相關) | X-linked |
| Dysferlinopathy | 肌鐵蛋白缺陷型肌營養不良症 | AR |
| Dystrophic epidermolysis bullosa (COL7A1-related) | 營養不良性大皰性表皮鬆解症(COL7A1相關) | AR |
| Ehlers-Danlos syndrome, dermatosparaxis type | 埃勒斯當洛斯綜合症(皮膚脆裂型) | AR |
| Ellis-van Creveld syndrome (EVC2-related) | 埃利偉氏綜合症(EVC2相關) | AR |
| Ellis-van Creveld syndrome (EVC-related) | 埃利偉氏綜合症(EVC相關) | AR |
| Emery-Dreifuss muscular dystrophy (EMD-related) | EmeryDreifuss肌肉萎縮症(EMD相關) | X-linked |
| Enhanced S-cone syndrome/ retinitis pigmentosa 37 | 增強型S錐綜合症/視網膜色素病變37型 | AR |
| Ethylmalonic encephalopathy | 乙基丙二酸腦病變 | AR |
| Carnitine-acylcarnitine translocase deficiency | 肉鹼-醯基肉鹼轉位酶缺乏症 | AR |
| Bardet-Biedl syndrome 6 | 巴德-畢德氏綜合症(6型) | AR |
| Fabry disease | 法布瑞氏症 | X-linked |
| Factor IX deficiency (Hemophilia B) | 凝血因子IX缺乏症(乙型血友病) | X-linked |
| Factor XI deficiency (Hemophilia C) | 第11凝血因子缺乏症(血友病C) | AR |
| Familial dysautonomia | 家族性自主神經失調症 | AR |
| Familial hypercholesterolemia (LDLRAP1-related) | 家族性高膽固醇血症(LDLRAP1相關) | AR |
| Familial hypercholesterolemia (LDLR-related) | 家族性高膽固醇血症(LDLR相關) | AR |
| Familial mediterranean fever | 家族性地中海熱 | AR |
| Fanconi anemia type A | 范科尼貧血A型 | AR |
| Fanconi anemia type C | 范科尼貧血C型 | AR |
| Fanconi anemia type G | 范科尼貧血G型 | AR |
| FKRP-related disorders | FKRP相關疾病 | AR |
| FKTN-related disorders | FKTN相關疾病 | AR |
| Fragile X syndrome | 脆性X綜合症 | X-linked |
| Fumarate hydratase deficiency | 延胡索酸酶缺乏症 | AR |
| Galactokinase deficiency galactosemia | 半乳糖激酶缺乏症 | AR |
| Galactosemia (GALT-related) | 半乳糖血症(GALT相關) | AR |
| Gaucher disease | 高雪氏症 | AR |
| Gitelman syndrome (SLC12A3-related) | 吉特曼氏
綜合症(SLC12A3相關) | AR |
| GJB2-related DFNB1 nonsyndromic hearing loss and deafness | GJB2相關DFNB1非綜合症性聽力損失和耳聾 | AR |
| GLE1-related disorders | GLE1相關疾病 | AR |
| Glucose-6-phosphate dehydrogenase (G6PD) deficiency | 6-磷酸葡萄糖脫氫酶(G6PD)缺乏症(蠶豆症) | X-linked |
| Glutaric acidemia type I | 戊二酸血症1型 | AR |
| Glutaric acidemia type IIA | 戊二酸血症2A型 | AR |
| Glutaric acidemia type IIC | 戊二酸血症2C型 | AR |
| Glycine encephalopathy (AMT-related) | 甘氨酸腦病(AMT相關) | AR |
| Glycine encephalopathy (GLDC-related) | 甘氨酸腦病(GLDC相關) | AR |
| Glycogen storage disease type IA | 肝醣儲積症1A型 | AR |
| Glycogen storage disease type IB | 肝醣儲積症1B型 | AR |
| Glycogen storage disease type II (Pompe disease) | 肝醣儲積症2型(龐貝氏症) | AR |
| Glycogen storage disease type III | 肝醣儲積症3型 | AR |
| Glycogen storage disease type IV/ adult polyglucosan body disease | 肝醣儲積症4型(成人葡萄糖多聚体體病) | AR |
| Glycogen storage disease type V | 肝醣儲積症5型 | AR |
| Glycogen storage disease type VII | 肝醣儲積症7型 | AR |
| GP1BA-related conditions | GP1BA相關疾病 | AR |
| GRACILE syndrome/ BCS1L-related disorders | GRACILE綜合症/BCS1L相關疾病 | AR |
| Guanidinoacetate methyltransferase deficiency | 胍基乙酸甲基轉移酶缺乏症 | AR |
| HBB-related hemoglobinopathies | HBB相關血紅蛋白病 | AR |
| Hereditary fructose intolerance | 遺傳性果糖不耐症 | AR |
| 3-hydroxyacyl-CoA dehydrogenase deficiency | 3-羥基輔酶A脫氫酶缺乏症 | AR |
| Hereditary hemochromatosis type 2 (HJV-related) | 遺傳性血色素沉著症2型(HJV相關) | AR |
| Hereditary hemochromatosis type 3 | 遺傳性血色素沉著症3型 | AR |
| Hermansky-Pudlak syndrome type 1 | HermanskyPudlak綜合症1型 | AR |
| Hermansky-Pudlak syndrome type 3 | HermanskyPudlak綜合症3型 | AR |
| Holocarboxylase synthetase deficiency | 多發性羧化酶缺乏症 | AR |
| Homocystinuria due to CBS deficiency | 胱硫醚β合成酶缺乏性高胱氨酸尿症 | AR |
| Homocystinuria due to MTHFR deficiency | 高胱胺酸尿症(因缺乏亞甲基四氫葉酸還原酶) | AR |
| Homocystinuria, cobalamin E type | 高胱胺酸尿症(鈷胺素E型) | AR |
| HSD17B4-related disorders | HSD17B4相關疾病 | AR |
| Hydrolethalus syndrome type 1 | Hydrolethalus綜合症1型 | AR |
| Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome | 高鳥氨酸血症-高氨血症-同型瓜氨酸尿綜合症 | AR |
| Hypohidrotic ectodermal dysplasia (EDA-related) | 少汗性外胚層發育不良症(EDA相關) | X-linked |
| Hypophosphatasia | 低磷酸酯酶症 | AR |
| Inclusion body myopathy 2 | 包涵體肌炎2型 | AR |
| Isovaleric acidemia | 異戊酸血症 | AR |
| Joubert syndrome 2/ TMEM216-related disorders | 茹貝爾綜合症2型/TMEM216相關疾病 | AR |
| Junctional epidermolysis bullosa (LAMB3-related) | 接合性表皮溶解水皰症(LAMB3相關) | AR |
| Junctional epidermolysis bullosa (LAMC2-related) | 接合性表皮溶解水皰症(LAMC2相關) | AR |
| KCNJ11-related disorders | KCNJ11相關疾病 | AR |
| Krabbe disease | 球細胞腦白質失養症(Krabbe病) | AR |
| LAMA2-related muscular dystrophy | LAMA2相關肌肉失養症 | AR |
| LAMA3-related disorders | LAMA3相關疾病 | AR |
| Leber congenital amaurosis 10/ CEP290-related disorders | 萊伯氏先天性黑矇症10型/CEP290相關疾病 | AR |
| Leber congenital amaurosis 13 | 萊伯氏先天性黑矇症13型 | AR |
| Leber congenital amaurosis 5 | 萊伯氏先天性黑矇症5型 | AR |
| Leber congenital amaurosis 8/ CRB1-related disorders | 萊伯氏先天性黑矇症8型/CRB1相關疾病 | AR |
| Leigh syndrome, French Canadian type | Leigh綜合症法裔加拿大型 | AR |
| Leukoencephalopathy with vanishing white matter (EIF2B5-related) | 白質消融性白質腦病(EIF2B5相關) | AR |
| Limb-girdle muscular dystrophy type 2A (calpainopathy) | 肢帶型肌肉失養症2A型(鈣蛋白酶病) | AR |
| Limb-girdle muscular dystrophy type 2C | 肢帶型肌肉失養症2C型 | AR |
| Limb-girdle muscular dystrophy type 2D | 肢帶型肌肉失養症2D型 | AR |
| Limb-girdle muscular dystrophy type 2E | 肢帶型肌肉失養症2E型 | AR |
| Lipoid congenital adrenal hyperplasia | 先天性類脂性腎上腺皮質增生症 | AR |
| Lipoprotein lipase deficiency | 脂蛋白酶脂解酵素缺乏症 | AR |
| Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency | 長鏈3-羥烷基輔酶A脫氫酶缺乏症 | AR |
| Lysinuric protein intolerance | 賴氨酸尿蛋白不耐受症 | AR |
| Lysosomal acid lipase deficiency | 溶酶體酸性脂肪酶缺乏症 | AR |
| Major histocompatibility complex class II deficiency (CIITA-related) | 主要組織相容性複合體Ⅱ類分子缺陷(CIITA相關) | AR |
| Maple syrup urine disease (MSUD) type 1A | 楓糖尿症1A型 | AR |
| Maple syrup urine disease (MSUD) type 1B | 楓糖尿症1B型 | AR |
| Maple syrup urine disease (MSUD) type 2 | 楓糖尿症2型 | AR |
| Medium chain acyl-CoA dehydrogenase (MCAD) deficiency | 中鏈醯輔酶Α去氫酶缺乏症 | AR |
| Megalencephalic leukoencephalopathy with subcortical cysts type 1 | 巨腦性腦白質病伴皮層下囊腫1型 | AR |
| Menkes disease/ ATP7A-related disorders | 孟克斯氏症/ATP7A相關疾病 | X-linked |
| Metachromatic leukodystrophy (ARSA-related) | 異染性腦白質營養不良(ARSA相關) | AR |
| Methylmalonic acidemia (MMAA-related) | 甲基丙二酸血症(MMAA相關) | AR |
| Methylmalonic acidemia (MMAB-related) | 甲基丙二酸血症(MMAB相關) | AR |
| Methylmalonic acidemia (MUT-related) | 甲基丙二酸血症(MUT相關) | AR |
| Methylmalonic acidemia with homocystinuria, cobalamin C type | 甲基丙二酸血症併高胱胺酸血症(鈷胺素C型) | AR |
| Methylmalonic acidemia with homocystinuria, cobalamin D type | 甲基丙二酸血症併高胱胺酸血症(鈷胺素D型) | AR |
| Microphthalmia /clinical anophthalmia (VSX2-related) | 小眼畸形/臨床無眼畸形(VSX2相關) | AR |
| Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related) | 粒線體酵素複合物I缺乏症/Leigh綜合症(NDUFAF5相關) | AR |
| Mitochondrial complex II deficiency/ Leigh syndrome (NDUFS6- related) | 粒線體酵素複合物II缺乏症/Leigh綜合症(NDUFS6相關) | AR |
| Mitochondrial DNA depletion syndrome (MPV17-related) | 粒線體DNA耗竭綜合症(MPV17相關) | AR |
| Mitochondrial myopathy and sideroblastic anemia 1 | 粒線體肌病和鐵粒細胞性貧血1型 | AR |
| Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease | 粒線體神經胃腸腦病變症 | AR |
| MKS1-related disorders | MKS1相關疾病 | AR |
| Mucolipidosis type II/III (GNPTAB-related) | 黏脂質症2/3型(GNPTAB相關) | AR |
| Mucolipidosis type III (GNPTG-related) | 黏脂質症3型(GNPTG相關) | AR |
| Mucolipidosis type IV | 黏脂質症4型 | AR |
| Mucopolysaccharidosis type I | 黏多醣症1型 | AR |
| Mucopolysaccharidosis type II (Hunter syndrome) | 黏多醣症2型(韓特氏綜合症) | X-linked |
| Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) | 黏多醣症3A型(聖菲利柏氏綜合症A型) | AR |
| Mucopolysaccharidosis type IIIB (Sanfilippo B syndrome) | 黏多醣症3B型(聖菲利柏氏綜合症B型) | AR |
| Mucopolysaccharidosis type IIIC (Sanfilippo C syndrome)/ retinitis pigmentosa 73 | 黏多醣症3C型(聖菲利柏氏綜合症C型)/視網膜色素病變73型 | AR |
| Mucopolysaccharidosis type IIID (Sanfilippo D syndrome) | 黏多醣症3D型(聖菲利柏氏綜合症D型) | AR |
| Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis | 黏多醣症4B型(莫奎歐綜合症B型)/GM1神經節苷脂儲積症 | AR |
| Mucopolysaccharidosis type IX | 黏多醣症9型 | AR |
| Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) | 黏多醣症6型(Maroteaux-Lamy綜合症) | AR |
| Multiple sulfatase deficiency | 多發性硫酸脂酶缺乏症 | AR |
| N-Acetylglutamate synthase deficiency | N-乙醯穀胺酸合成酶缺乏症 | AR |
| Nemaline myopathy 2 | 桿狀體肌症-2型 | AR |
| Nephrogenic diabetes insipidus (AQP2-related) | 腎性尿崩症(AQP2相關) | AR |
| Nephrotic syndrome/ congenital Finnish nephrosis (NPHS1-related) | 腎病綜合症(NPHS1相關) | AR |
| Nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related) | 類固醇抗性腎病綜合症(NPHS2相關) | AR |
| Neuronal ceroid lipofuscinosis (TPP1-related) | 神經元蠟樣脂褐質沉著症(TPP1相關) | AR |
| Neuronal ceroid-lipofuscinosis (CLN3-related) | 神經元蠟樣脂褐質沉著症(CLN3相關) | AR |
| Neuronal ceroid-lipofuscinosis (CLN5-related) | 神經元蠟樣脂褐質沉著症(CLN5相關) | AR |
| Neuronal ceroid-lipofuscinosis (CLN6-related) | 神經元蠟樣脂褐質沉著症(CLN6相關) | AR |
| Neuronal ceroid-lipofuscinosis (MFSD8-related) | 神經元蠟樣脂褐質沉著症(MFSD8相關) | AR |
| Neuronal ceroid-lipofuscinosis (PPT1-related) | 神經元蠟樣脂褐質沉著症(PPT1相關) | AR |
| Neuronal ceroid-lipofuscinosis/ Northern epilepsy (CLN8-related) | 神經元蠟樣脂褐質沉著症/北方癲癇型(CLN8相關) | AR |
| Niemann-Pick disease type A/B | 尼曼匹克症A/B型 | AR |
| Niemann-Pick disease type C (NPC1-related) | 尼曼匹克症C型(NPC1相關) | AR |
| Niemann-Pick disease type C (NPC2-related) | 尼曼匹克症C型(NPC2相關) | AR |
| Nijmegen breakage syndrome | 奈梅亨破損綜合症 | AR |
| OPA3-related conditions | OPA3相關疾病 | AR |
| Ornithine aminotransferase deficiency | 鳥胺酸酮酸轉胺酶缺乏症 | AR |
| Ornithine transcarbamylase (OTC) deficiency | 鳥胺酸氨甲醯基轉移酶缺乏症 | X-linked |
| Osteopetrosis (TCIRG1-related) | 骨質石化症(TCIRG1相關) | AR |
| Pendred syndrome | Pendred氏綜合症 | AR |
| Peroxisomal acyl-CoA oxidase deficiency | 過氧化物酶酰基輔酶A氧化酶缺乏症 | AR |
| Phenylalanine hydroxylase deficiency (including Phenylketonuria (PKU)) | 苯丙氨酸羥化酶缺乏症(包括苯酮尿症) | AR |
| Phosphoglycerate dehydrogenase deficiency/ Neu-Laxova syndrome type 1 | 磷酸甘油酸脫氫酶缺乏症/Neu-Laxova綜合症1型 | AR |
| Polycystic kidney disease (PKHD1-related) | 多囊性腎病變(PKHD1相關) | AR |
| Polymicrogyria (ADGRG1-related) | 多小腦回(ADGRG1相關) | AR |
| POMGNT1-related disorders | POMGNT1相關疾病 | AR |
| Pontocerebellar hypoplasia (RARS2-related) | 橋腦小腦發育不全(RARS2相關) | AR |
| Pontocerebellar hypoplasia (SEPSECS-related) | 橋腦小腦發育不全(SEPSECS相關) | AR |
| Postnatal progressive microcephaly with seizures and brain atrophy/ Infantile cerebral and cerebellar atrophy (MED17-related) | 產後進行性小頭畸形伴癲癇發作和腦萎縮/嬰兒腦和小腦萎縮(MED17相關) | AR |
| Primary carnitine deficiency | 原發性肉鹼缺乏症 | AR |
| Primary Ciliary Dyskinesia (DNAH5-related) | 原發性纖毛運動障礙(DNAH5相關) | AR |
| Primary Ciliary Dyskinesia (DNAI1-related) | 原發性纖毛運動障礙(DNAI1相關) | AR |
| Primary Ciliary Dyskinesia (DNAI2-related) | 原發性纖毛運動障礙(DNAI2相關) | AR |
| Primary hyperoxaluria type 1 | 原發性高草酸尿症1型 | AR |
| Primary hyperoxaluria type 2 | 原發性高草酸尿症2型 | AR |
| Primary hyperoxaluria type 3 | 原發性高草酸尿症3型 | AR |
| Progressive familial intrahepatic cholestasis type 2 | 進行性家族性肝內膽汁滯留症2型 | AR |
| Propionic acidemia (PCCA-related) | 丙酸血症(PCCA相關) | AR |
| Propionic acidemia (PCCB-related) | 丙酸血症(PCCB相關) | AR |
| PRPS1-related disorders | PRPS1相關疾病 | X-linked |
| PSAP-related disorders | PSAP相關疾病 | AR |
| Pycnodysostosis | 緻密性成骨不全症 | AR |
| Pyruvate carboxylase deficiency | 丙酮酸羧化酶缺乏症 | AR |
| Pyruvate dehydrogenase complex deficiency (PDHA1-related) | 丙酮酸鹽脫氫酶缺乏症(PDHA1相關) | X-linked |
| Pyruvate dehydrogenase complex deficiency (PDHB-related) | 丙酮酸鹽脫氫酶缺乏症(PDHB相關) | AR |
| RAPSN-related disorders | RAPSN相關疾病 | AR |
| Renal tubular acidosis with deafness (ATP6V1B1-related) | 腎小管酸中毒伴失聰(ATP6V1B1相關) | AR |
| Retinitis pigmentosa 25 | 視網膜色素病變25型 | AR |
| Retinitis pigmentosa 26 | 視網膜色素病變26型 | AR |
| Retinitis Pigmentosa 28 | 視網膜色素病變28型 | AR |
| Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related) | 肢近端型點狀軟骨發育不良1型/雷弗素姆病(PEX7相關) | AR |
| Rhizomelic chondrodysplasia punctata type 3 | 肢近端型點狀軟骨發育不良3型 | AR |
| Roberts syndrome | 羅伯氏綜合症 | AR |
| RPE65-related disorders | RPE65相關疾病 | AR |
| RPGRIP1L-related disorders | RPGRIP1L相關疾病 | AR |
| RTEL-1-related disorders | RTEL-1相關疾病 | AR |
| Sandhoff disease | Sandhoff病/GM2神經節苷脂儲積症 | AR |
| Schimke immuno-osseous dysplasia | Schimke免疫骨發育不良 | AR |
| Severe combined immune deficiency (DCLRE1C-related) | 嚴重聯合免疫缺陷症(DCLRE1C相關) | AR |
| Severe combined immunodeficiency (RAG2-related) | 嚴重聯合免疫缺陷症(RAG2相關) | AR |
| Severe congenital neutropenia due to VPS45-deficiency | 嚴重先天性嗜中性球減少症(因VPS45缺失) | AR |
| Severe congenital neutropenia type 3 | 嚴重先天性嗜中性球減少症3型 | AR |
| Sialic acid storage disorders | 唾液酸貯積症 | AR |
| Sjögren-Larsson syndrome | Sjögren-Larsson氏綜合症 | AR |
| SLC26A2-related disorders | SLC26A2相關疾病 | AR |
| SLC35A3-related disorders | SLC35A3相關疾病 | AR |
| Smith-Lemli-Opitz syndrome | Smith-Lemli-Opitz綜合症 | AR |
| Spastic paraplegia type 15 | 痙攣性下身麻痺15型 | AR |
| Spastic paraplegia type 49 | 痙攣性下身麻痺49型 | AR |
| Spinal muscular atrophy | 脊髓性肌肉萎縮症 | AR |
| Spondylothoracic dysostosis | 脊椎肋骨發育不全 | AR |
| Steel Syndrome | 鋼鐵綜合症 | AR |
| Stüve-Wiedemann syndrome | Stüve-Wiedemann綜合症 | AR |
| Tay-Sachs disease/ hexosaminidase A deficiency | 戴薩克斯症/己醣胺酶A缺乏症 | AR |
| Tetrahydrobiopterin deficiency (PTS-related) | 四氫生物蝶呤缺乏症(PTS相關) | AR |
| Transient infantile liver failure | 急性新生兒肝衰竭 | AR |
| Tyrosine hydroxylase deficiency | 酪胺酸羥化酶缺乏症 | AR |
| Tyrosinemia type I | 酪胺酸血症1型 | AR |
| Tyrosinemia type II | 酪胺酸血症2型 | AR |
| Usher syndrome type IB/ MYO7A-related disorders | 尤塞氏綜合症1B型/MYO7A相關疾病 | AR |
| Usher syndrome type IC/ USH1C-related disorders | 尤塞氏綜合症1C型/USH1C相關疾病 | AR |
| Usher syndrome type ID | 尤塞氏綜合症1D型 | AR |
| Usher syndrome type IF/ PCDH15-related disorders | 尤塞氏綜合症1F型/PCDH15相關疾病 | AR |
| Usher syndrome type IIA/ USH2A-related disorders | 尤塞氏綜合症2A型/USH2A相關疾病 | AR |
| Usher syndrome type IIIA | 尤塞氏綜合症3A型 | AR |
| Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | 特長鏈醯輔酶A去氫酶缺乏症 | AR |
| VRK1-related disorders | VRK1相關疾病 | AR |
| Wilson disease | 威爾森氏症 | AR |
| WNT10A-related disorders | WNT10A相關疾病 | AR |
| Xeroderma pigmentosum complementation group A | 著色性乾皮症-A型 | AR |
| Xeroderma pigmentosum complementation group C | 著色性乾皮症-C型 | AR |
| X-linked adrenoleukodystrophy | 性聯遺傳腎上腺白質營養不良 | X-linked |
| X-linked creatine transporter deficiency | 性聯遺傳肌酸轉運載體缺乏症 | X-linked |
| X-linked juvenile retinoschisis | 性聯遺傳視網膜裂損症 | X-linked |
| X-linked myotubular myopathy | 性聯遺傳肌小管病變 | X-linked |
| X-linked severe combined immunodeficiency (X-SCID) | 性聯遺傳嚴重聯合免疫缺陷症 | X-linked |
| Zellweger spectrum disorder (PEX10-related) | 柴爾維格氏症(PEX10相關) | AR |
| Zellweger spectrum disorder (PEX12-related) | 柴爾維格氏症(PEX12相關) | AR |
| Zellweger spectrum disorder (PEX1-related) | 柴爾維格氏症(PEX1相關) | AR |
| Zellweger spectrum disorder (PEX2-related) | 柴爾維格氏症(PEX2相關) | AR |
| Zellweger spectrum disorder (PEX6-related) | 柴爾維格氏症(PEX6相關) | AR |
Reproductive Medicine
