1689 个疾病知识主题

001 高血压Hypertension 百科内容 → 002 高血压心脏病Hypertensive Heart Disease 百科内容 → 003 冠状动脉疾病Coronary Artery Disease 百科内容 → 004 心绞痛Angina 百科内容 → 005 心肌梗死Heart Attack / Myocardial Infarction 百科内容 → 006 心律失常Arrhythmia 百科内容 → 007 心房颤动Atrial Fibrillation 百科内容 → 008 心力衰竭Heart Failure 百科内容 → 009 动脉粥样硬化Atherosclerosis 百科内容 → 010 外周动脉疾病Peripheral Artery Disease 百科内容 → 011 深静脉血栓Deep Vein Thrombosis 百科内容 → 012 普通感冒Common Cold 百科内容 → 013 急性咽炎Acute Pharyngitis 百科内容 → 014 急性支气管炎Acute Bronchitis 百科内容 → 015 慢性支气管炎Chronic bronchitis 百科内容 → 016 慢性阻塞性肺疾病COPD 百科内容 → 017 哮喘Asthma 百科内容 → 018 肺炎Pneumonia 百科内容 → 019 间质性肺疾病Interstitial Lung Diseases 百科内容 → 020 肺气肿Emphysema 百科内容 → 021 支气管扩张症Bronchiectasis 百科内容 → 022 胸膜炎Pleurisy 百科内容 → 023 胃食管反流病GERD 百科内容 → 024 消化性溃疡Peptic Ulcer Disease 百科内容 → 025 肠易激综合征Irritable Bowel Syndrome 百科内容 → 026 便秘Constipation 百科内容 → 027 代谢功能障碍相关脂肪性肝病MASLD 百科内容 → 028 胆结石Gallstones 百科内容 → 029 胆囊炎Cholecystitis 百科内容 → 030 痔病Hemorrhoids 百科内容 → 031 2 型糖尿病Type 2 Diabetes 百科内容 → 032 1 型糖尿病Type 1 Diabetes 百科内容 → 033 糖尿病视网膜病变Diabetic Retinopathy 百科内容 → 034 甲状腺功能亢进症Hyperthyroidism 百科内容 → 035 甲状腺功能减退症Hypothyroidism 百科内容 → 036 痛风Gout 百科内容 → 037 高胆固醇血症High Cholesterol / Hyperlipidemia 百科内容 → 038 肥胖症Obesity 百科内容 → 039 骨质疏松症Osteoporosis 百科内容 → 040 尿路感染Urinary Tract Infection 百科内容 → 041 短暂性脑缺血发作Transient Ischemic Attack 百科内容 → 042 缺血性卒中Ischemic Stroke 百科内容 → 043 出血性卒中Hemorrhagic Stroke 百科内容 → 044 偏头痛Migraine 百科内容 → 045 紧张型头痛Tension-Type Headache 百科内容 → 046 三叉神经痛Trigeminal neuralgia 百科内容 → 047 贝尔麻痹Bell Palsy 百科内容 → 048 坐骨神经痛Sciatica 百科内容 → 049 帕金森病Parkinson Disease 百科内容 → 050 阿尔茨海默病Alzheimer Disease 百科内容 → 051 癫痫Epilepsy 百科内容 → 052 睡眠呼吸暂停Sleep Apnea 百科内容 → 053 周围神经病变Peripheral Neuropathy 百科内容 → 054 Guillain-Barré syndromeGuillain-Barré syndrome 百科内容 → 055 多发性硬化Multiple Sclerosis 百科内容 → 056 重症肌无力Myasthenia Gravis 百科内容 → 057 缺铁性贫血Iron-Deficiency Anemia 百科内容 → 058 免疫性血小板减少症Immune Thrombocytopenia 百科内容 → 059 霍奇金淋巴瘤Hodgkin lymphoma 百科内容 → 060 类风湿关节炎Rheumatoid Arthritis 百科内容 → 061 强直性脊柱炎Ankylosing Spondylitis 百科内容 → 062 系统性红斑狼疮Systemic Lupus Erythematosus 百科内容 → 063 干燥综合征Sjogren Syndrome 百科内容 → 064 银屑病关节炎Psoriatic Arthritis 百科内容 → 065 脓毒症Sepsis 百科内容 → 066 严重过敏反应Anaphylaxis 百科内容 → 067 阑尾炎Appendicitis 百科内容 → 068 烧伤Burns 百科内容 → 069 瘀伤Bruises 百科内容 → 070 肾结石Kidney Stones 百科内容 → 071 良性前列腺增生Benign Prostatic Hyperplasia 百科内容 → 072 前列腺炎Prostatitis 百科内容 → 073 精索静脉曲张Varicocele 百科内容 → 074 静脉曲张Varicose Veins 百科内容 → 075 蜂窝织炎Cellulitis 百科内容 → 076 脓肿Abscess 百科内容 → 077 甲状腺癌Thyroid Cancer 百科内容 → 078 腕管综合征Carpal Tunnel Syndrome 百科内容 → 079 网球肘Tennis Elbow 百科内容 → 080 半月板损伤Meniscus Injury 百科内容 → 081 关节脱位Dislocations 百科内容 → 082 肩关节脱位Dislocated Shoulder 百科内容 → 083 滑囊炎Bursitis 百科内容 → 084 阴道炎Vaginitis 百科内容 → 085 盆腔炎Pelvic Inflammatory Disease 百科内容 → 086 子宫肌瘤Uterine Fibroids 百科内容 → 087 卵巢囊肿Ovarian Cysts 百科内容 → 088 多囊卵巢综合征PCOS 百科内容 → 089 子宫腺肌病Adenomyosis 百科内容 → 090 围绝经期与绝经Perimenopause and Menopause 百科内容 → 091 异位妊娠Ectopic Pregnancy 百科内容 → 092 原发性卵巢功能不全Primary Ovarian Insufficiency 百科内容 → 093 子宫内膜异位症Endometriosis 百科内容 → 094 手足口病Hand, Foot and Mouth Disease 百科内容 → 095 荨麻疹Urticaria 百科内容 → 096 注意缺陷多动障碍ADHD 百科内容 → 097 Kawasaki diseaseKawasaki disease 百科内容 → 098 热性惊厥Febrile Seizures 百科内容 → 099 新生儿黄疸Neonatal Jaundice 百科内容 → 100 脑性瘫痪Cerebral Palsy 百科内容 → 101 干眼病Dry Eye Disease 百科内容 → 102 结膜炎Conjunctivitis 百科内容 → 103 睑板腺囊肿Chalazion 百科内容 → 104 白内障Cataract 百科内容 → 105 青光眼Glaucoma 百科内容 → 106 老视Presbyopia 百科内容 → 107 视网膜脱离Retinal Detachment 百科内容 → 108 年龄相关性黄斑变性Age-Related Macular Degeneration 百科内容 → 109 过敏性鼻炎Allergic Rhinitis 百科内容 → 110 鼻窦炎Sinusitis 百科内容 → 111 中耳炎Otitis Media 百科内容 → 112 耳鸣Tinnitus 百科内容 → 113 良性阵发性位置性眩晕BPPV 百科内容 → 114 牙周炎Periodontitis 百科内容 → 115 口腔溃疡Canker Sores 百科内容 → 116 龋齿Dental Caries 百科内容 → 117 颞下颌关节紊乱TMJ Disorders 百科内容 → 118 接触性皮炎Contact Dermatitis 百科内容 → 119 痤疮Acne 百科内容 → 120 玫瑰痤疮Rosacea 百科内容 → 121 带状疱疹Shingles 百科内容 → 122 白癜风Vitiligo 百科内容 → 123 银屑病Psoriasis 百科内容 → 124 斑秃Alopecia Areata 百科内容 → 125 疥疮Scabies 百科内容 → 126 梅毒Syphilis 百科内容 → 127 生殖器疣Genital warts 百科内容 → 128 广泛性焦虑障碍Generalized Anxiety Disorder 百科内容 → 129 重性抑郁障碍Major Depressive Disorder 百科内容 → 130 强迫症Obsessive-Compulsive Disorder 百科内容 → 131 惊恐障碍Panic Disorder 百科内容 → 132 双相障碍Bipolar Disorder 百科内容 → 133 精神分裂症Schizophrenia 百科内容 → 134 神经性厌食症Anorexia Nervosa 百科内容 → 135 创伤后应激障碍PTSD 百科内容 → 136 人格障碍Personality Disorders 百科内容 → 137 Behçet diseaseBehçet disease 百科内容 → 138 巨细胞动脉炎Giant cell arteritis 百科内容 → 139 肉芽肿性多血管炎Granulomatosis with polyangiitis 百科内容 → 140 Systemic sclerodermaSystemic scleroderma 百科内容 → 141 Antiphospholipid syndromeAntiphospholipid syndrome 百科内容 → 142 纤维肌痛Fibromyalgia 百科内容 → 143 流行性感冒Influenza 百科内容 → 144 COVID-19COVID-19 百科内容 → 145 水痘Chickenpox 百科内容 → 146 流行性腮腺炎Mumps 百科内容 → 147 幽门螺杆菌感染Helicobacter pylori Infections 百科内容 → 148 乙型肝炎Hepatitis B 百科内容 → 149 风疹Rubella 百科内容 → 150 麻疹Measles 百科内容 → 151 登革热Dengue 百科内容 → 152 结核病Tuberculosis 百科内容 → 153 肺癌Lung Cancer 百科内容 → 154 胃癌Stomach Cancer 百科内容 → 155 结直肠癌Colorectal Cancer 百科内容 → 156 肝癌Liver Cancer 百科内容 → 157 乳腺癌Breast Cancer 百科内容 → 158 宫颈癌Cervical Cancer 百科内容 → 159 前列腺癌Prostate Cancer 百科内容 → 160 食管癌Esophageal Cancer 百科内容 → 161 卵巢癌Ovarian Cancer 百科内容 → 162 胰腺癌Pancreatic Cancer 百科内容 → 163 Bladder cancerBladder cancer 百科内容 → 164 肾癌Kidney Cancer 百科内容 → 165 子宫内膜癌Endometrial Cancer 百科内容 → 166 淋巴瘤Lymphoma 百科内容 → 167 白血病Leukemia 百科内容 → 168 Multiple myelomaMultiple myeloma 百科内容 → 169 急性肾损伤Acute Kidney Injury 百科内容 → 170 骨折Fractures 百科内容 → 171 心脏骤停Sudden Cardiac Arrest 百科内容 → 172 心脏瓣膜病Heart Valve Disease 百科内容 → 173 心肌病Cardiomyopathy 百科内容 → 174 脑卒中Stroke 百科内容 → 175 脑动脉瘤Brain Aneurysm 百科内容 → 176 肺栓塞Pulmonary Embolism 百科内容 → 177 主动脉瘤Aortic Aneurysm 百科内容 → 178 雷诺现象Raynaud Phenomenon 百科内容 → 179 体位性低血压Orthostatic Hypotension 百科内容 → 180 体位性心动过速综合征POTS 百科内容 → 181 糖尿病前期Prediabetes 百科内容 → 182 妊娠期糖尿病Gestational Diabetes 百科内容 → 183 代谢综合征Metabolic Syndrome 百科内容 → 184 桥本甲状腺炎Hashimoto Thyroiditis 百科内容 → 185 Graves 病Graves Disease 百科内容 → 186 阻塞性睡眠呼吸暂停Obstructive Sleep Apnea 百科内容 → 187 肺纤维化Pulmonary Fibrosis 百科内容 → 188 肺动脉高压Pulmonary Hypertension 百科内容 → 189 胃炎Gastritis 百科内容 → 190 克罗恩病Crohn Disease 百科内容 → 191 溃疡性结肠炎Ulcerative Colitis 百科内容 → 192 乳糜泻Celiac Disease 百科内容 → 193 结肠憩室病Diverticular Disease 百科内容 → 194 急性胃肠炎Gastroenteritis 百科内容 → 195 丙型肝炎Hepatitis C 百科内容 → 196 肝硬化Cirrhosis 百科内容 → 197 胰腺炎Pancreatitis 百科内容 → 198 遗传性血色病Hemochromatosis 百科内容 → 199 慢性肾病Chronic Kidney Disease 百科内容 → 200 膀胱过度活动症Overactive Bladder 百科内容 → 201 尿失禁Urinary Incontinence 百科内容 → 202 间质性膀胱炎/膀胱疼痛综合征Interstitial Cystitis 百科内容 → 203 特发性震颤Essential Tremor 百科内容 → 204 孤独症谱系障碍Autism Spectrum Disorder 百科内容 → 205 失眠障碍Insomnia Disorder 百科内容 → 206 骨关节炎Osteoarthritis 百科内容 → 207 下背痛Low Back Pain 百科内容 → 208 冻结肩Frozen Shoulder 百科内容 → 209 肩袖损伤Rotator Cuff Injury 百科内容 → 210 足底筋膜炎Plantar Fasciitis 百科内容 → 211 跟腱病Achilles Tendinopathy 百科内容 → 212 前交叉韧带损伤ACL Injury 百科内容 → 213 脑震荡Concussion 百科内容 → 214 复杂区域疼痛综合征CRPS 百科内容 → 215 特应性皮炎Atopic Dermatitis 百科内容 → 216 皮肤真菌感染Fungal Skin Infection 百科内容 → 217 长新冠Long COVID 百科内容 → 218 HIV 感染与艾滋病HIV/AIDS 百科内容 → 219 人乳头瘤病毒感染HPV Infection 百科内容 → 220 单纯疱疹病毒感染Herpes Simplex 百科内容 → 221 莱姆病Lyme Disease 百科内容 → 222 传染性单核细胞增多症Infectious Mononucleosis 百科内容 → 223 外阴痛Vulvodynia 百科内容 → 224 经前综合征PMS 百科内容 → 225 经前烦躁障碍PMDD 百科内容 → 226 女性不孕症Female Infertility 百科内容 → 227 男性不育症Male Infertility 百科内容 → 228 勃起功能障碍Erectile Dysfunction 百科内容 → 229 早泄Premature Ejaculation 百科内容 → 230 男性性腺功能减退症Male Hypogonadism 百科内容 → 231 阴茎硬结症Peyronie Disease 百科内容 → 232 子痫前期Preeclampsia 百科内容 → 233 产后抑郁症Postpartum Depression 百科内容 → 234 黑色素瘤Melanoma 百科内容 → 235 近视Myopia 百科内容 → 236 圆锥角膜Keratoconus 百科内容 → 237 葡萄膜炎Uveitis 百科内容 → 238 听力损失Hearing Loss 百科内容 → 239 扁桃体炎Tonsillitis 百科内容 → 240 维生素 B12 缺乏性贫血Vitamin B12 Deficiency Anemia 百科内容 → 241 镰状细胞病Sickle Cell Disease 百科内容 → 242 地中海贫血Thalassemia 百科内容 → 243 血友病Hemophilia 百科内容 → 244 中性粒细胞减少症Neutropenia 百科内容 → 245 食物过敏Food Allergy 百科内容 → 246 呼吸道合胞病毒感染RSV Infection 百科内容 → 247 哮吼Croup 百科内容 → 248 先天性心脏病Congenital Heart Disease 百科内容 → 249 青少年特发性脊柱侧弯Adolescent Idiopathic Scoliosis 百科内容 → 250 儿童夜间遗尿Nocturnal Enuresis 百科内容 → 251 发育性髋关节发育不良Developmental Dysplasia of the Hip 百科内容 → 252 霍乱Cholera 百科内容 → 253 进行性核上性麻痹Progressive supranuclear palsy 百科内容 → 254 天疱疮Pemphigus 百科内容 → 255 风湿性多肌痛Polymyalgia rheumatica 百科内容 → 256 流产Abortion 百科内容 → 257 低体温Hypothermia 百科内容 → 258 肉毒中毒Botulism 百科内容 → 259 二尖瓣脱垂Mitral valve prolapse 百科内容 → 260 绝经期Menopause 百科内容 → 261 脊柱裂Spina bifida 百科内容 → 262 晕动病Motion sickness 百科内容 → 263 隐孢子虫病Cryptosporidiosis 百科内容 → 264 血管炎Vasculitis 百科内容 → 265 谵妄Delirium 百科内容 → 266 弗里德赖希共济失调Friedreich ataxia 百科内容 → 267 脊柱侧凸Scoliosis 百科内容 → 268 毛滴虫病Trichomoniasis 百科内容 → 269 维生素D缺乏Vitamin D deficiency 百科内容 → 270 Tourette综合征Tourette syndrome 百科内容 → 271 囊性纤维化Cystic fibrosis 百科内容 → 272 椎管狭窄Spinal stenosis 百科内容 → 273 苯丙酮尿症Phenylketonuria 百科内容 → 274 脑白质营养不良Leukodystrophies 百科内容 → 275 脓疱病Impetigo 百科内容 → 276 化脓性汗腺炎Hidradenitis suppurativa 百科内容 → 277 鼠疫Plague 百科内容 → 278 炭疽Anthrax 百科内容 → 279 结节病Sarcoidosis 百科内容 → 280 猫抓病Cat-scratch disease 百科内容 → 281 百日咳Whooping cough 百科内容 → 282 破伤风Tetanus 百科内容 → 283 白喉Diphtheria 百科内容 → 284 军团病Legionnaires disease 百科内容 → 285 脑膜炎球菌病Meningococcal disease 百科内容 → 286 狂犬病Rabies 百科内容 → 287 肌萎缩侧索硬化Amyotrophic lateral sclerosis 百科内容 → 288 脊肌萎缩症Spinal muscular atrophy 百科内容 → 289 天花Smallpox 百科内容 → 290 猴痘Mpox 百科内容 → 291 肌营养不良Muscular dystrophy 百科内容 → 292 曲霉病Aspergillosis 百科内容 → 293 组织胞浆菌病Histoplasmosis 百科内容 → 294 美洲锥虫病Chagas disease 百科内容 → 295 利什曼病Leishmaniasis 百科内容 → 296 α-1-抗胰蛋白酶缺乏Alpha-1-antitrypsin deficiency 百科内容 → 297 弓形虫病Toxoplasmosis 百科内容 → 298 成骨不全Osteogenesis imperfecta 百科内容 → 299 乳糖不耐受Lactose intolerance 百科内容 → 300 Wilson病Wilson disease 百科内容 → 301 脱水Dehydration 百科内容 → 302 淀粉样变性Amyloidosis 百科内容 → 303 脑积水Hydrocephalus 百科内容 → 304 马凡综合征Marfan syndrome 百科内容 → 305 Ehlers-Danlos综合征Ehlers-Danlos syndrome 百科内容 → 306 Reye综合征Reye syndrome 百科内容 → 307 结节性硬化症Tuberous sclerosis 百科内容 → 308 Usher综合征Usher syndrome 百科内容 → 309 Turner综合征Turner syndrome 百科内容 → 310 Klinefelter综合征Klinefelter syndrome 百科内容 → 311 Prader-Willi综合征Prader-Willi syndrome 百科内容 → 312 Rett综合征Rett syndrome 百科内容 → 313 口干燥症Xerostomia 百科内容 → 314 散光Astigmatism 百科内容 → 315 牙周病Periodontal disease 百科内容 → 316 Myhre syndromeMyhre syndrome 百科内容 → 317 Aicardi-Goutières syndromeAicardi-Goutières syndrome 百科内容 → 318 Abdominal wall defectAbdominal wall defect 百科内容 → 319 Pol III-related leukodystrophyPol III-related leukodystrophy 百科内容 → 320 15q11-q13 duplication syndrome15q11-q13 duplication syndrome 百科内容 → 321 Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease 百科内容 → 322 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophyAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 百科内容 → 323 Multiminicore diseaseMultiminicore disease 百科内容 → 324 Epilepsy-aphasia spectrumEpilepsy-aphasia spectrum 百科内容 → 325 Wolfram syndromeWolfram syndrome 百科内容 → 326 Primary ciliary dyskinesiaPrimary ciliary dyskinesia 百科内容 → 327 Langerhans cell histiocytosisLangerhans cell histiocytosis 百科内容 → 328 X-linked adrenoleukodystrophyX-linked adrenoleukodystrophy 百科内容 → 329 Noonan syndromeNoonan syndrome 百科内容 → 330 Noonan syndrome with multiple lentiginesNoonan syndrome with multiple lentigines 百科内容 → 331 Xeroderma pigmentosumXeroderma pigmentosum 百科内容 → 332 Nonsyndromic holoprosencephalyNonsyndromic holoprosencephaly 百科内容 → 333 Caudal regression syndromeCaudal regression syndrome 百科内容 → 334 Waldenström macroglobulinemiaWaldenström macroglobulinemia 百科内容 → 335 Focal dermal hypoplasiaFocal dermal hypoplasia 百科内容 → 336 CHARGE syndromeCHARGE syndrome 百科内容 → 337 Congenital generalized lipodystrophyCongenital generalized lipodystrophy 百科内容 → 338 TRNT1 deficiencyTRNT1 deficiency 百科内容 → 339 TUBB4A-related leukodystrophyTUBB4A-related leukodystrophy 百科内容 → 340 Ataxia with oculomotor apraxiaAtaxia with oculomotor apraxia 百科内容 → 341 Barth syndromeBarth syndrome 百科内容 → 342 Carpenter syndromeCarpenter syndrome 百科内容 → 343 Bohring-Opitz syndromeBohring-Opitz syndrome 百科内容 → 344 Juvenile idiopathic arthritisJuvenile idiopathic arthritis 百科内容 → 345 Nicolaides-Baraitser syndromeNicolaides-Baraitser syndrome 百科内容 → 346 Brain-lung-thyroid syndromeBrain-lung-thyroid syndrome 百科内容 → 347 Metachromatic leukodystrophyMetachromatic leukodystrophy 百科内容 → 348 Mucopolysaccharidosis type IIMucopolysaccharidosis type II 百科内容 → 349 Hajdu-Cheney syndromeHajdu-Cheney syndrome 百科内容 → 350 Dystrophic epidermolysis bullosaDystrophic epidermolysis bullosa 百科内容 → 351 LeprosyLeprosy 百科内容 → 352 Collagen VI-related dystrophyCollagen VI-related dystrophy 百科内容 → 353 McCune-Albright syndromeMcCune-Albright syndrome 百科内容 → 354 RAB18 deficiencyRAB18 deficiency 百科内容 → 355 Dandy-Walker malformationDandy-Walker malformation 百科内容 → 356 Klippel-Feil syndromeKlippel-Feil syndrome 百科内容 → 357 Septo-optic dysplasiaSepto-optic dysplasia 百科内容 → 358 Transthyretin amyloidosisTransthyretin amyloidosis 百科内容 → 359 Dyskeratosis congenitaDyskeratosis congenita 百科内容 → 360 Beta-propeller protein-associated neurodegenerationBeta-propeller protein-associated neurodegeneration 百科内容 → 361 Costello syndromeCostello syndrome 百科内容 → 362 Shwachman-Diamond syndromeShwachman-Diamond syndrome 百科内容 → 363 Freeman-Sheldon syndromeFreeman-Sheldon syndrome 百科内容 → 364 48,XXYY syndrome48,XXYY syndrome 百科内容 → 365 Hereditary paraganglioma-pheochromocytomaHereditary paraganglioma-pheochromocytoma 百科内容 → 366 PLCG2-associated antibody deficiency and immune dysregulationPLCG2-associated antibody deficiency and immune dysregulation 百科内容 → 367 Lysosomal acid lipase deficiencyLysosomal acid lipase deficiency 百科内容 → 368 Sturge-Weber syndromeSturge-Weber syndrome 百科内容 → 369 Familial thoracic aortic aneurysm and dissectionFamilial thoracic aortic aneurysm and dissection 百科内容 → 370 SialidosisSialidosis 百科内容 → 371 17 alpha-hydroxylase/17,20-lyase deficiency17 alpha-hydroxylase/17,20-lyase deficiency 百科内容 → 372 Carnitine palmitoyltransferase II deficiencyCarnitine palmitoyltransferase II deficiency 百科内容 → 373 22q11.2 deletion syndrome22q11.2 deletion syndrome 百科内容 → 374 Chronic granulomatous diseaseChronic granulomatous disease 百科内容 → 375 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndromeHereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 百科内容 → 376 Alcohol use disorderAlcohol use disorder 百科内容 → 377 Glycogen storage disease type IVGlycogen storage disease type IV 百科内容 → 378 Cutis laxaCutis laxa 百科内容 → 379 Maturity-onset diabetes of the youngMaturity-onset diabetes of the young 百科内容 → 380 Loeys-Dietz syndromeLoeys-Dietz syndrome 百科内容 → 381 Hennekam syndromeHennekam syndrome 百科内容 → 382 Epidermolysis bullosa simplexEpidermolysis bullosa simplex 百科内容 → 383 Carney complexCarney complex 百科内容 → 384 Familial adenomatous polyposisFamilial adenomatous polyposis 百科内容 → 385 Dupuytren contractureDupuytren contracture 百科内容 → 386 Neuromyelitis opticaNeuromyelitis optica 百科内容 → 387 Histiocytosis-lymphadenopathy plus syndromeHistiocytosis-lymphadenopathy plus syndrome 百科内容 → 388 Lipoid proteinosisLipoid proteinosis 百科内容 → 389 Mucopolysaccharidosis type IIIMucopolysaccharidosis type III 百科内容 → 390 Spastic paraplegia type 49Spastic paraplegia type 49 百科内容 → 391 Cyclic vomiting syndromeCyclic vomiting syndrome 百科内容 → 392 Central core diseaseCentral core disease 百科内容 → 393 PorphyriaPorphyria 百科内容 → 394 Cartilage-hair hypoplasiaCartilage-hair hypoplasia 百科内容 → 395 OsteopetrosisOsteopetrosis 百科内容 → 396 Giant congenital melanocytic nevusGiant congenital melanocytic nevus 百科内容 → 397 Poikiloderma with neutropeniaPoikiloderma with neutropenia 百科内容 → 398 Mevalonate kinase deficiencyMevalonate kinase deficiency 百科内容 → 399 Mucopolysaccharidosis type IMucopolysaccharidosis type I 百科内容 → 400 GM1 gangliosidosisGM1 gangliosidosis 百科内容 → 401 Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndromeImmune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome 百科内容 → 402 49,XXXXY syndrome49,XXXXY syndrome 百科内容 → 403 Heterotaxy syndromeHeterotaxy syndrome 百科内容 → 404 Woodhouse-Sakati syndromeWoodhouse-Sakati syndrome 百科内容 → 405 Bannayan-Riley-Ruvalcaba syndromeBannayan-Riley-Ruvalcaba syndrome 百科内容 → 406 TrichothiodystrophyTrichothiodystrophy 百科内容 → 407 Pallister-Killian mosaic syndromePallister-Killian mosaic syndrome 百科内容 → 408 Hypermanganesemia with dystoniaHypermanganesemia with dystonia 百科内容 → 409 Lacrimo-auriculo-dento-digital syndromeLacrimo-auriculo-dento-digital syndrome 百科内容 → 410 Hereditary neuralgic amyotrophyHereditary neuralgic amyotrophy 百科内容 → 411 Pitt-Hopkins syndromePitt-Hopkins syndrome 百科内容 → 412 Combined pituitary hormone deficiencyCombined pituitary hormone deficiency 百科内容 → 413 Hereditary cerebral amyloid angiopathyHereditary cerebral amyloid angiopathy 百科内容 → 414 Down syndromeDown syndrome 百科内容 → 415 Tyrosine hydroxylase deficiencyTyrosine hydroxylase deficiency 百科内容 → 416 Lennox-Gastaut syndromeLennox-Gastaut syndrome 百科内容 → 417 Pontocerebellar hypoplasiaPontocerebellar hypoplasia 百科内容 → 418 Zellweger spectrum disorderZellweger spectrum disorder 百科内容 → 419 Osteoglophonic dysplasiaOsteoglophonic dysplasia 百科内容 → 420 Ankyloblepharon-ectodermal defects-cleft lip/palate syndromeAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome 百科内容 → 421 Vici syndromeVici syndrome 百科内容 → 422 Glycogen storage disease type IGlycogen storage disease type I 百科内容 → 423 Mitochondrial complex V deficiencyMitochondrial complex V deficiency 百科内容 → 424 SLC4A1-associated distal renal tubular acidosisSLC4A1-associated distal renal tubular acidosis 百科内容 → 425 Pearson syndromePearson syndrome 百科内容 → 426 Adult-onset leukoencephalopathy with axonal spheroids and pigmented gliaAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia 百科内容 → 427 Dyserythropoietic anemia and thrombocytopeniaDyserythropoietic anemia and thrombocytopenia 百科内容 → 428 Methylmalonic acidemia with homocystinuriaMethylmalonic acidemia with homocystinuria 百科内容 → 429 DOORS syndromeDOORS syndrome 百科内容 → 430 Arterial tortuosity syndromeArterial tortuosity syndrome 百科内容 → 431 Juvenile polyposis syndromeJuvenile polyposis syndrome 百科内容 → 432 Paroxysmal nocturnal hemoglobinuriaParoxysmal nocturnal hemoglobinuria 百科内容 → 433 Leigh syndromeLeigh syndrome 百科内容 → 434 Diamond-Blackfan anemiaDiamond-Blackfan anemia 百科内容 → 435 Parathyroid cancerParathyroid cancer 百科内容 → 436 Spondyloepiphyseal dysplasia congenitaSpondyloepiphyseal dysplasia congenita 百科内容 → 437 Blau syndromeBlau syndrome 百科内容 → 438 Familial partial lipodystrophyFamilial partial lipodystrophy 百科内容 → 439 Amelogenesis imperfectaAmelogenesis imperfecta 百科内容 → 440 CDKL5 deficiency disorderCDKL5 deficiency disorder 百科内容 → 441 CitrullinemiaCitrullinemia 百科内容 → 442 Familial isolated pituitary adenomaFamilial isolated pituitary adenoma 百科内容 → 443 Oral-facial-digital syndromeOral-facial-digital syndrome 百科内容 → 444 Schinzel-Giedion syndromeSchinzel-Giedion syndrome 百科内容 → 445 Task-specific focal dystoniaTask-specific focal dystonia 百科内容 → 446 Hereditary pancreatitisHereditary pancreatitis 百科内容 → 447 Williams syndromeWilliams syndrome 百科内容 → 448 Cowden syndromeCowden syndrome 百科内容 → 449 CASK-related intellectual disabilityCASK-related intellectual disability 百科内容 → 450 Primary coenzyme Q10 deficiencyPrimary coenzyme Q10 deficiency 百科内容 → 451 Deoxyguanosine kinase deficiencyDeoxyguanosine kinase deficiency 百科内容 → 452 Familial candidiasisFamilial candidiasis 百科内容 → 453 Wolff-Parkinson-White syndromeWolff-Parkinson-White syndrome 百科内容 → 454 Congenital dyserythropoietic anemiaCongenital dyserythropoietic anemia 百科内容 → 455 9q22.3 microdeletion9q22.3 microdeletion 百科内容 → 456 Seasonal affective disorderSeasonal affective disorder 百科内容 → 457 Lattice corneal dystrophy type IILattice corneal dystrophy type II 百科内容 → 458 Genetic epilepsy with febrile seizures plusGenetic epilepsy with febrile seizures plus 百科内容 → 459 Systemic mastocytosisSystemic mastocytosis 百科内容 → 460 Multiple pterygium syndromeMultiple pterygium syndrome 百科内容 → 461 Danon diseaseDanon disease 百科内容 → 462 Isolated sulfite oxidase deficiencyIsolated sulfite oxidase deficiency 百科内容 → 463 Opitz G/BBB syndromeOpitz G/BBB syndrome 百科内容 → 464 Fanconi anemiaFanconi anemia 百科内容 → 465 DICER1 syndromeDICER1 syndrome 百科内容 → 466 Peters plus syndromePeters plus syndrome 百科内容 → 467 Poland syndromePoland syndrome 百科内容 → 468 Primary sclerosing cholangitisPrimary sclerosing cholangitis 百科内容 → 469 Hyaline fibromatosis syndromeHyaline fibromatosis syndrome 百科内容 → 470 Mainzer-Saldino syndromeMainzer-Saldino syndrome 百科内容 → 471 Progressive familial heart blockProgressive familial heart block 百科内容 → 472 Apert syndromeApert syndrome 百科内容 → 473 Nijmegen breakage syndromeNijmegen breakage syndrome 百科内容 → 474 African iron overloadAfrican iron overload 百科内容 → 475 Cleidocranial dysplasiaCleidocranial dysplasia 百科内容 → 476 Epidermal nevusEpidermal nevus 百科内容 → 477 Facioscapulohumeral muscular dystrophyFacioscapulohumeral muscular dystrophy 百科内容 → 478 Kaufman oculocerebrofacial syndromeKaufman oculocerebrofacial syndrome 百科内容 → 479 Netherton syndromeNetherton syndrome 百科内容 → 480 Joubert syndromeJoubert syndrome 百科内容 → 481 Megalencephalic leukoencephalopathy with subcortical cystsMegalencephalic leukoencephalopathy with subcortical cysts 百科内容 → 482 Hartsfield syndromeHartsfield syndrome 百科内容 → 483 Alpha-N-acetylgalactosaminidase deficiencyAlpha-N-acetylgalactosaminidase deficiency 百科内容 → 484 Cerebrotendinous xanthomatosisCerebrotendinous xanthomatosis 百科内容 → 485 Campomelic dysplasiaCampomelic dysplasia 百科内容 → 486 Cytochrome P450 oxidoreductase deficiencyCytochrome P450 oxidoreductase deficiency 百科内容 → 487 Mycosis fungoidesMycosis fungoides 百科内容 → 488 Fraser syndromeFraser syndrome 百科内容 → 489 Branchio-oculo-facial syndromeBranchio-oculo-facial syndrome 百科内容 → 490 Congenital central hypoventilation syndromeCongenital central hypoventilation syndrome 百科内容 → 491 Megalencephaly-capillary malformation syndromeMegalencephaly-capillary malformation syndrome 百科内容 → 492 Junctional epidermolysis bullosaJunctional epidermolysis bullosa 百科内容 → 493 Niemann-Pick diseaseNiemann-Pick disease 百科内容 → 494 CystinosisCystinosis 百科内容 → 495 Triple A syndromeTriple A syndrome 百科内容 → 496 Stickler syndromeStickler syndrome 百科内容 → 497 Mabry syndromeMabry syndrome 百科内容 → 498 BAP1 tumor predisposition syndromeBAP1 tumor predisposition syndrome 百科内容 → 499 PMM2-congenital disorder of glycosylationPMM2-congenital disorder of glycosylation 百科内容 → 500 Timothy syndromeTimothy syndrome 百科内容 → 501 Hereditary hemorrhagic telangiectasiaHereditary hemorrhagic telangiectasia 百科内容 → 502 Esophageal atresia/tracheoesophageal fistulaEsophageal atresia/tracheoesophageal fistula 百科内容 → 503 Familial lipoprotein lipase deficiencyFamilial lipoprotein lipase deficiency 百科内容 → 504 Lateral meningocele syndromeLateral meningocele syndrome 百科内容 → 505 Cardiofaciocutaneous syndromeCardiofaciocutaneous syndrome 百科内容 → 506 Pelizaeus-Merzbacher diseasePelizaeus-Merzbacher disease 百科内容 → 507 WAGR syndromeWAGR syndrome 百科内容 → 508 Mucopolysaccharidosis type VIMucopolysaccharidosis type VI 百科内容 → 509 L1 syndromeL1 syndrome 百科内容 → 510 Mosaic variegated aneuploidy syndromeMosaic variegated aneuploidy syndrome 百科内容 → 511 Distal 18q deletion syndromeDistal 18q deletion syndrome 百科内容 → 512 Critical congenital heart diseaseCritical congenital heart disease 百科内容 → 513 7q11.23 duplication syndrome7q11.23 duplication syndrome 百科内容 → 514 Anhidrotic ectodermal dysplasia with immune deficiencyAnhidrotic ectodermal dysplasia with immune deficiency 百科内容 → 515 Jacobsen syndromeJacobsen syndrome 百科内容 → 516 Dementia with Lewy bodiesDementia with Lewy bodies 百科内容 → 517 Multiple sulfatase deficiencyMultiple sulfatase deficiency 百科内容 → 518 Multiple endocrine neoplasiaMultiple endocrine neoplasia 百科内容 → 519 Cerebro-facio-thoracic dysplasiaCerebro-facio-thoracic dysplasia 百科内容 → 520 Caffey diseaseCaffey disease 百科内容 → 521 IMAGe syndromeIMAGe syndrome 百科内容 → 522 Dilated cardiomyopathy with ataxia syndromeDilated cardiomyopathy with ataxia syndrome 百科内容 → 523 AchondroplasiaAchondroplasia 百科内容 → 524 ColobomaColoboma 百科内容 → 525 Mucolipidosis type IVMucolipidosis type IV 百科内容 → 526 1q21.1 microdeletion1q21.1 microdeletion 百科内容 → 527 Constitutional mismatch repair deficiency syndromeConstitutional mismatch repair deficiency syndrome 百科内容 → 528 Pseudohypoaldosteronism type 1Pseudohypoaldosteronism type 1 百科内容 → 529 Infantile-onset ascending hereditary spastic paralysisInfantile-onset ascending hereditary spastic paralysis 百科内容 → 530 Duchenne and Becker muscular dystrophyDuchenne and Becker muscular dystrophy 百科内容 → 531 MYH9-related disorderMYH9-related disorder 百科内容 → 532 Glycogen storage disease type VIIGlycogen storage disease type VII 百科内容 → 533 3-M syndrome3-M syndrome 百科内容 → 534 Nonsyndromic hearing lossNonsyndromic hearing loss 百科内容 → 535 X-linked lymphoproliferative diseaseX-linked lymphoproliferative disease 百科内容 → 536 1q21.1 microduplication1q21.1 microduplication 百科内容 → 537 Phosphoglycerate dehydrogenase deficiencyPhosphoglycerate dehydrogenase deficiency 百科内容 → 538 Triosephosphate isomerase deficiencyTriosephosphate isomerase deficiency 百科内容 → 539 Boucher-Neuhäuser syndromeBoucher-Neuhäuser syndrome 百科内容 → 540 CHOPS syndromeCHOPS syndrome 百科内容 → 541 Snijders Blok-Campeau syndromeSnijders Blok-Campeau syndrome 百科内容 → 542 Andermann syndromeAndermann syndrome 百科内容 → 543 Hirschsprung diseaseHirschsprung disease 百科内容 → 544 CLPB deficiencyCLPB deficiency 百科内容 → 545 Saul-Wilson syndromeSaul-Wilson syndrome 百科内容 → 546 Autosomal dominant sleep-related hypermotor epilepsyAutosomal dominant sleep-related hypermotor epilepsy 百科内容 → 547 3-beta-hydroxysteroid dehydrogenase deficiency3-beta-hydroxysteroid dehydrogenase deficiency 百科内容 → 548 SitosterolemiaSitosterolemia 百科内容 → 549 Familial dysautonomiaFamilial dysautonomia 百科内容 → 550 TyrosinemiaTyrosinemia 百科内容 → 551 Stevens-Johnson syndrome/toxic epidermal necrolysisStevens-Johnson syndrome/toxic epidermal necrolysis 百科内容 → 552 Cold-induced sweating syndromeCold-induced sweating syndrome 百科内容 → 553 Geleophysic dysplasiaGeleophysic dysplasia 百科内容 → 554 48,XXXY syndrome48,XXXY syndrome 百科内容 → 555 Wiedemann-Rautenstrauch syndromeWiedemann-Rautenstrauch syndrome 百科内容 → 556 Mucopolysaccharidosis type VIIMucopolysaccharidosis type VII 百科内容 → 557 X-linked chondrodysplasia punctata 2X-linked chondrodysplasia punctata 2 百科内容 → 558 Fukuyama congenital muscular dystrophyFukuyama congenital muscular dystrophy 百科内容 → 559 Familial hypertrophic cardiomyopathyFamilial hypertrophic cardiomyopathy 百科内容 → 560 Gastrointestinal stromal tumorGastrointestinal stromal tumor 百科内容 → 561 Progressive external ophthalmoplegiaProgressive external ophthalmoplegia 百科内容 → 562 CLN8 diseaseCLN8 disease 百科内容 → 563 Gaucher diseaseGaucher disease 百科内容 → 564 PACS1 syndromePACS1 syndrome 百科内容 → 565 SOST-related sclerosing bone dysplasiaSOST-related sclerosing bone dysplasia 百科内容 → 566 Moebius syndromeMoebius syndrome 百科内容 → 567 STAC3 disorderSTAC3 disorder 百科内容 → 568 LAMA2-related muscular dystrophyLAMA2-related muscular dystrophy 百科内容 → 569 Mitochondrial complex I deficiencyMitochondrial complex I deficiency 百科内容 → 570 Familial paroxysmal kinesigenic dyskinesiaFamilial paroxysmal kinesigenic dyskinesia 百科内容 → 571 Hereditary neuropathy with liability to pressure palsiesHereditary neuropathy with liability to pressure palsies 百科内容 → 572 Schizoaffective disorderSchizoaffective disorder 百科内容 → 573 Trichorhinophalangeal syndrome type IITrichorhinophalangeal syndrome type II 百科内容 → 574 Cantú syndromeCantú syndrome 百科内容 → 575 Spastic paraplegia type 15Spastic paraplegia type 15 百科内容 → 576 FarsightednessFarsightedness 百科内容 → 577 Riboflavin transporter deficiency neuronopathyRiboflavin transporter deficiency neuronopathy 百科内容 → 578 Congenital hypothyroidismCongenital hypothyroidism 百科内容 → 579 Von Hippel-Lindau syndromeVon Hippel-Lindau syndrome 百科内容 → 580 Leukoencephalopathy with thalamus and brainstem involvement and high lactateLeukoencephalopathy with thalamus and brainstem involvement and high lactate 百科内容 → 581 Autosomal dominant hypocalcemiaAutosomal dominant hypocalcemia 百科内容 → 582 Congenital fibrosis of the extraocular musclesCongenital fibrosis of the extraocular muscles 百科内容 → 583 Pelizaeus-Merzbacher-like disease type 1Pelizaeus-Merzbacher-like disease type 1 百科内容 → 584 Wolf-Hirschhorn syndromeWolf-Hirschhorn syndrome 百科内容 → 585 Rabson-Mendenhall syndromeRabson-Mendenhall syndrome 百科内容 → 586 Congenital fiber-type disproportionCongenital fiber-type disproportion 百科内容 → 587 DOCK8 immunodeficiency syndromeDOCK8 immunodeficiency syndrome 百科内容 → 588 Chediak-Higashi syndromeChediak-Higashi syndrome 百科内容 → 589 Klippel-Trenaunay syndromeKlippel-Trenaunay syndrome 百科内容 → 590 Kindler epidermolysis bullosaKindler epidermolysis bullosa 百科内容 → 591 Darier diseaseDarier disease 百科内容 → 592 PGM3-congenital disorder of glycosylationPGM3-congenital disorder of glycosylation 百科内容 → 593 Leukoencephalopathy with vanishing white matterLeukoencephalopathy with vanishing white matter 百科内容 → 594 Dent diseaseDent disease 百科内容 → 595 Pachyonychia congenitaPachyonychia congenita 百科内容 → 596 Thrombotic thrombocytopenic purpuraThrombotic thrombocytopenic purpura 百科内容 → 597 Schimke immuno-osseous dysplasiaSchimke immuno-osseous dysplasia 百科内容 → 598 Nonketotic hyperglycinemiaNonketotic hyperglycinemia 百科内容 → 599 Fatty acid hydroxylase-associated neurodegenerationFatty acid hydroxylase-associated neurodegeneration 百科内容 → 600 Limb-girdle muscular dystrophyLimb-girdle muscular dystrophy 百科内容 → 601 Nonsyndromic paragangliomaNonsyndromic paraganglioma 百科内容 → 602 McLeod neuroacanthocytosis syndromeMcLeod neuroacanthocytosis syndrome 百科内容 → 603 Epilepsy of infancy with migrating focal seizuresEpilepsy of infancy with migrating focal seizures 百科内容 → 604 AlkaptonuriaAlkaptonuria 百科内容 → 605 McKusick-Kaufman syndromeMcKusick-Kaufman syndrome 百科内容 → 606 Oculodentodigital dysplasiaOculodentodigital dysplasia 百科内容 → 607 Desmoid tumorDesmoid tumor 百科内容 → 608 Hereditary sensory and autonomic neuropathy type IIHereditary sensory and autonomic neuropathy type II 百科内容 → 609 Atypical hemolytic-uremic syndromeAtypical hemolytic-uremic syndrome 百科内容 → 610 Dowling-Degos diseaseDowling-Degos disease 百科内容 → 611 X-linked myotubular myopathyX-linked myotubular myopathy 百科内容 → 612 Coats plus syndromeCoats plus syndrome 百科内容 → 613 Gorlin syndromeGorlin syndrome 百科内容 → 614 Sjögren-Larsson syndromeSjögren-Larsson syndrome 百科内容 → 615 GalactosialidosisGalactosialidosis 百科内容 → 616 Myotonic dystrophyMyotonic dystrophy 百科内容 → 617 Free sialic acid storage disorderFree sialic acid storage disorder 百科内容 → 618 Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosisHereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 百科内容 → 619 Schwartz-Jampel syndromeSchwartz-Jampel syndrome 百科内容 → 620 Congenital anomalies of kidney and urinary tractCongenital anomalies of kidney and urinary tract 百科内容 → 621 STXBP1 encephalopathySTXBP1 encephalopathy 百科内容 → 622 Metatropic dysplasiaMetatropic dysplasia 百科内容 → 623 Swyer syndromeSwyer syndrome 百科内容 → 624 Opioid addictionOpioid addiction 百科内容 → 625 Aicardi syndromeAicardi syndrome 百科内容 → 626 Glycogen storage disease type IXGlycogen storage disease type IX 百科内容 → 627 Stüve-Wiedemann syndromeStüve-Wiedemann syndrome 百科内容 → 628 Spinal muscular atrophy with progressive myoclonic epilepsySpinal muscular atrophy with progressive myoclonic epilepsy 百科内容 → 629 Megacystis-microcolon-intestinal hypoperistalsis syndromeMegacystis-microcolon-intestinal hypoperistalsis syndrome 百科内容 → 630 GLUT1 deficiency syndromeGLUT1 deficiency syndrome 百科内容 → 631 Autosomal dominant optic atrophy and cataractAutosomal dominant optic atrophy and cataract 百科内容 → 632 Xia-Gibbs syndromeXia-Gibbs syndrome 百科内容 → 633 21-hydroxylase deficiency21-hydroxylase deficiency 百科内容 → 634 NarcolepsyNarcolepsy 百科内容 → 635 10q26 deletion syndrome10q26 deletion syndrome 百科内容 → 636 Holt-Oram syndromeHolt-Oram syndrome 百科内容 → 637 Craniofacial microsomiaCraniofacial microsomia 百科内容 → 638 Malignant hyperthermiaMalignant hyperthermia 百科内容 → 639 AbetalipoproteinemiaAbetalipoproteinemia 百科内容 → 640 Mowat-Wilson syndromeMowat-Wilson syndrome 百科内容 → 641 Yuan-Harel-Lupski syndromeYuan-Harel-Lupski syndrome 百科内容 → 642 Frontotemporal dementia with parkinsonism-17Frontotemporal dementia with parkinsonism-17 百科内容 → 643 VACTERL associationVACTERL association 百科内容 → 644 Spondyloenchondrodysplasia with immune dysregulationSpondyloenchondrodysplasia with immune dysregulation 百科内容 → 645 Autosomal dominant leukodystrophy with autonomic diseaseAutosomal dominant leukodystrophy with autonomic disease 百科内容 → 646 Congenital cataracts, facial dysmorphism, and neuropathyCongenital cataracts, facial dysmorphism, and neuropathy 百科内容 → 647 Otopalatodigital syndrome type 2Otopalatodigital syndrome type 2 百科内容 → 648 Proteus syndromeProteus syndrome 百科内容 → 649 Thiopurine S-methyltransferase deficiencyThiopurine S-methyltransferase deficiency 百科内容 → 650 Craniofrontonasal syndromeCraniofrontonasal syndrome 百科内容 → 651 Fragile X-associated tremor/ataxia syndromeFragile X-associated tremor/ataxia syndrome 百科内容 → 652 CholangiocarcinomaCholangiocarcinoma 百科内容 → 653 Branchiootorenal/branchiootic syndromeBranchiootorenal/branchiootic syndrome 百科内容 → 654 Mandibulofacial dysostosis with microcephalyMandibulofacial dysostosis with microcephaly 百科内容 → 655 Paget disease of bonePaget disease of bone 百科内容 → 656 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementiaInclusion body myopathy with early-onset Paget disease and frontotemporal dementia 百科内容 → 657 Autoimmune lymphoproliferative syndromeAutoimmune lymphoproliferative syndrome 百科内容 → 658 Dihydrolipoamide dehydrogenase deficiencyDihydrolipoamide dehydrogenase deficiency 百科内容 → 659 Idiopathic pulmonary fibrosisIdiopathic pulmonary fibrosis 百科内容 → 660 Isolated growth hormone deficiencyIsolated growth hormone deficiency 百科内容 → 661 Chronic myeloid leukemiaChronic myeloid leukemia 百科内容 → 662 Generalized arterial calcification of infancyGeneralized arterial calcification of infancy 百科内容 → 663 Neurofibromatosis type 1Neurofibromatosis type 1 百科内容 → 664 Shprintzen-Goldberg syndromeShprintzen-Goldberg syndrome 百科内容 → 665 Alagille syndromeAlagille syndrome 百科内容 → 666 MEGDEL syndromeMEGDEL syndrome 百科内容 → 667 Alveolar capillary dysplasia with misalignment of pulmonary veinsAlveolar capillary dysplasia with misalignment of pulmonary veins 百科内容 → 668 CUL3-related neurodevelopmental disorderCUL3-related neurodevelopmental disorder 百科内容 → 669 Idiopathic infantile hypercalcemiaIdiopathic infantile hypercalcemia 百科内容 → 670 RAPADILINO syndromeRAPADILINO syndrome 百科内容 → 671 Biotin-thiamine-responsive basal ganglia diseaseBiotin-thiamine-responsive basal ganglia disease 百科内容 → 672 Spondylocostal dysostosisSpondylocostal dysostosis 百科内容 → 673 16p11.2 duplication16p11.2 duplication 百科内容 → 674 PolymicrogyriaPolymicrogyria 百科内容 → 675 Mucopolysaccharidosis type IVMucopolysaccharidosis type IV 百科内容 → 676 Rhizomelic chondrodysplasia punctataRhizomelic chondrodysplasia punctata 百科内容 → 677 CLN1 diseaseCLN1 disease 百科内容 → 678 Alpha thalassemia X-linked intellectual disability syndromeAlpha thalassemia X-linked intellectual disability syndrome 百科内容 → 679 Peters anomalyPeters anomaly 百科内容 → 680 Common variable immune deficiencyCommon variable immune deficiency 百科内容 → 681 Frontonasal dysplasiaFrontonasal dysplasia 百科内容 → 682 Hereditary diffuse gastric cancerHereditary diffuse gastric cancer 百科内容 → 683 Spastic paraplegia type 11Spastic paraplegia type 11 百科内容 → 684 Crouzon syndrome with acanthosis nigricansCrouzon syndrome with acanthosis nigricans 百科内容 → 685 Acute necrotizing encephalopathy type 1Acute necrotizing encephalopathy type 1 百科内容 → 686 Congenital hepatic fibrosisCongenital hepatic fibrosis 百科内容 → 687 Bardet-Biedl syndromeBardet-Biedl syndrome 百科内容 → 688 Autoimmune Addison diseaseAutoimmune Addison disease 百科内容 → 689 Autosomal dominant hyper-IgE syndromeAutosomal dominant hyper-IgE syndrome 百科内容 → 690 Adenosine deaminase deficiencyAdenosine deaminase deficiency 百科内容 → 691 STING-associated vasculopathy with onset in infancySTING-associated vasculopathy with onset in infancy 百科内容 → 692 Smith-Magenis syndromeSmith-Magenis syndrome 百科内容 → 693 Congenital plasminogen deficiencyCongenital plasminogen deficiency 百科内容 → 694 Type A insulin resistance syndromeType A insulin resistance syndrome 百科内容 → 695 Spastic paraplegia type 2Spastic paraplegia type 2 百科内容 → 696 Glycogen storage disease type IIIGlycogen storage disease type III 百科内容 → 697 DLG4-related synaptopathyDLG4-related synaptopathy 百科内容 → 698 Au-Kline syndromeAu-Kline syndrome 百科内容 → 699 Rothmund-Thomson syndromeRothmund-Thomson syndrome 百科内容 → 700 SATB2-associated syndromeSATB2-associated syndrome 百科内容 → 701 Pulmonary veno-occlusive diseasePulmonary veno-occlusive disease 百科内容 → 702 Simpson-Golabi-Behmel syndromeSimpson-Golabi-Behmel syndrome 百科内容 → 703 Jansen-de Vries syndromeJansen-de Vries syndrome 百科内容 → 704 HypophosphatasiaHypophosphatasia 百科内容 → 705 Isolated lissencephaly sequenceIsolated lissencephaly sequence 百科内容 → 706 Infantile neuroaxonal dystrophyInfantile neuroaxonal dystrophy 百科内容 → 707 Renal tubular acidosis with deafnessRenal tubular acidosis with deafness 百科内容 → 708 Hyperparathyroidism-jaw tumor syndromeHyperparathyroidism-jaw tumor syndrome 百科内容 → 709 GalactosemiaGalactosemia 百科内容 → 710 Microcephalic osteodysplastic primordial dwarfism type IIMicrocephalic osteodysplastic primordial dwarfism type II 百科内容 → 711 Wiskott-Aldrich syndromeWiskott-Aldrich syndrome 百科内容 → 712 Allergic asthmaAllergic asthma 百科内容 → 713 Rapid-onset dystonia parkinsonismRapid-onset dystonia parkinsonism 百科内容 → 714 Familial hypercholesterolemiaFamilial hypercholesterolemia 百科内容 → 715 Aromatase deficiencyAromatase deficiency 百科内容 → 716 Chronic atrial and intestinal dysrhythmiaChronic atrial and intestinal dysrhythmia 百科内容 → 717 MED13L syndromeMED13L syndrome 百科内容 → 718 Purine nucleoside phosphorylase deficiencyPurine nucleoside phosphorylase deficiency 百科内容 → 719 Alpha-mannosidosisAlpha-mannosidosis 百科内容 → 720 Glycogen storage disease type 0Glycogen storage disease type 0 百科内容 → 721 Nemaline myopathyNemaline myopathy 百科内容 → 722 COL4A1-related brain small-vessel diseaseCOL4A1-related brain small-vessel disease 百科内容 → 723 Dihydropyrimidine dehydrogenase deficiencyDihydropyrimidine dehydrogenase deficiency 百科内容 → 724 Maffucci syndromeMaffucci syndrome 百科内容 → 725 Potocki-Lupski syndromePotocki-Lupski syndrome 百科内容 → 726 Sotos syndromeSotos syndrome 百科内容 → 727 Restless legs syndromeRestless legs syndrome 百科内容 → 728 Baller-Gerold syndromeBaller-Gerold syndrome 百科内容 → 729 Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delayShort stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay 百科内容 → 730 X-linked hypophosphatemiaX-linked hypophosphatemia 百科内容 → 731 UNC80 deficiencyUNC80 deficiency 百科内容 → 732 Roberts syndromeRoberts syndrome 百科内容 → 733 Tetrasomy 18pTetrasomy 18p 百科内容 → 734 Camurati-Engelmann diseaseCamurati-Engelmann disease 百科内容 → 735 Spastic paraplegia type 7Spastic paraplegia type 7 百科内容 → 736 MPV17-related hepatocerebral mitochondrial DNA depletion syndromeMPV17-related hepatocerebral mitochondrial DNA depletion syndrome 百科内容 → 737 Thrombocytopenia-absent radius syndromeThrombocytopenia-absent radius syndrome 百科内容 → 738 Gyrate atrophy of the choroid and retinaGyrate atrophy of the choroid and retina 百科内容 → 739 RNAse T2-deficient leukoencephalopathyRNAse T2-deficient leukoencephalopathy 百科内容 → 740 Giant axonal neuropathyGiant axonal neuropathy 百科内容 → 741 Progressive familial intrahepatic cholestasisProgressive familial intrahepatic cholestasis 百科内容 → 742 Arginine vasopressin resistanceArginine vasopressin resistance 百科内容 → 743 Spinocerebellar ataxia type 36Spinocerebellar ataxia type 36 百科内容 → 744 AchondrogenesisAchondrogenesis 百科内容 → 745 ALG1-congenital disorder of glycosylationALG1-congenital disorder of glycosylation 百科内容 → 746 Chorea-acanthocytosisChorea-acanthocytosis 百科内容 → 747 Capillary malformation-arteriovenous malformation syndromeCapillary malformation-arteriovenous malformation syndrome 百科内容 → 748 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevationLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 百科内容 → 749 Cranioectodermal dysplasiaCranioectodermal dysplasia 百科内容 → 750 Rigid spine muscular dystrophyRigid spine muscular dystrophy 百科内容 → 751 Spinal muscular atrophy with respiratory distress type 1Spinal muscular atrophy with respiratory distress type 1 百科内容 → 752 CLN3 diseaseCLN3 disease 百科内容 → 753 Hyperphosphatemic familial tumoral calcinosisHyperphosphatemic familial tumoral calcinosis 百科内容 → 754 Isovaleric acidemiaIsovaleric acidemia 百科内容 → 755 Dermatofibrosarcoma protuberansDermatofibrosarcoma protuberans 百科内容 → 756 Huntington's disease-likeHuntington's disease-like 百科内容 → 757 Vitamin D-dependent ricketsVitamin D-dependent rickets 百科内容 → 758 Incontinentia pigmentiIncontinentia pigmenti 百科内容 → 759 X-linked cardiac valvular dysplasiaX-linked cardiac valvular dysplasia 百科内容 → 760 Axenfeld-Rieger syndromeAxenfeld-Rieger syndrome 百科内容 → 761 Sézary syndromeSézary syndrome 百科内容 → 762 Hermansky-Pudlak syndromeHermansky-Pudlak syndrome 百科内容 → 763 Buschke-Ollendorff syndromeBuschke-Ollendorff syndrome 百科内容 → 764 Bloom syndromeBloom syndrome 百科内容 → 765 Epidermolysis bullosa with pyloric atresiaEpidermolysis bullosa with pyloric atresia 百科内容 → 766 Keratoderma with woolly hairKeratoderma with woolly hair 百科内容 → 767 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 百科内容 → 768 Familial acute myeloid leukemia with mutated CEBPAFamilial acute myeloid leukemia with mutated CEBPA 百科内容 → 769 FOXG1 syndromeFOXG1 syndrome 百科内容 → 770 Congenital mirror movement disorderCongenital mirror movement disorder 百科内容 → 771 Persistent Müllerian duct syndromePersistent Müllerian duct syndrome 百科内容 → 772 ADNP syndromeADNP syndrome 百科内容 → 773 Spondyloepiphyseal dysplasia with marked metaphyseal changesSpondyloepiphyseal dysplasia with marked metaphyseal changes 百科内容 → 774 Manitoba oculotrichoanal syndromeManitoba oculotrichoanal syndrome 百科内容 → 775 Adenylosuccinate lyase deficiencyAdenylosuccinate lyase deficiency 百科内容 → 776 Rhabdoid tumor predisposition syndromeRhabdoid tumor predisposition syndrome 百科内容 → 777 Robinow syndromeRobinow syndrome 百科内容 → 778 Troyer syndromeTroyer syndrome 百科内容 → 779 Pompe diseasePompe disease 百科内容 → 780 Anophthalmia/MicrophthalmiaAnophthalmia/Microphthalmia 百科内容 → 781 Gorlin-Chaudhry-Moss syndromeGorlin-Chaudhry-Moss syndrome 百科内容 → 782 Pendred syndromePendred syndrome 百科内容 → 783 Von Willebrand diseaseVon Willebrand disease 百科内容 → 784 Fryns syndromeFryns syndrome 百科内容 → 785 Beta thalassemiaBeta thalassemia 百科内容 → 786 Walker-Warburg syndromeWalker-Warburg syndrome 百科内容 → 787 FBXL4-related encephalomyopathic mitochondrial DNA depletion syndromeFBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 百科内容 → 788 17q12 deletion syndrome17q12 deletion syndrome 百科内容 → 789 Ataxia-telangiectasiaAtaxia-telangiectasia 百科内容 → 790 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heartNeurodevelopmental disorder with or without anomalies of the brain, eye, or heart 百科内容 → 791 Bartter syndromeBartter syndrome 百科内容 → 792 Duane-radial ray syndromeDuane-radial ray syndrome 百科内容 → 793 Lafora progressive myoclonus epilepsyLafora progressive myoclonus epilepsy 百科内容 → 794 Hereditary folate malabsorptionHereditary folate malabsorption 百科内容 → 795 Beckwith-Wiedemann syndromeBeckwith-Wiedemann syndrome 百科内容 → 796 Kallmann syndromeKallmann syndrome 百科内容 → 797 Donohue syndromeDonohue syndrome 百科内容 → 798 Thiamine-responsive megaloblastic anemia syndromeThiamine-responsive megaloblastic anemia syndrome 百科内容 → 799 Benign familial neonatal seizuresBenign familial neonatal seizures 百科内容 → 800 CHD2 myoclonic encephalopathyCHD2 myoclonic encephalopathy 百科内容 → 801 AceruloplasminemiaAceruloplasminemia 百科内容 → 802 NeuroblastomaNeuroblastoma 百科内容 → 803 Action myoclonus–renal failure syndromeAction myoclonus–renal failure syndrome 百科内容 → 804 Distal hereditary motor neuropathy, type VDistal hereditary motor neuropathy, type V 百科内容 → 805 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyCongenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 百科内容 → 806 Leber congenital amaurosisLeber congenital amaurosis 百科内容 → 807 Kearns-Sayre syndromeKearns-Sayre syndrome 百科内容 → 808 Tetra-amelia syndromeTetra-amelia syndrome 百科内容 → 809 X-linked hyper IgM syndromeX-linked hyper IgM syndrome 百科内容 → 810 Nakajo-Nishimura syndromeNakajo-Nishimura syndrome 百科内容 → 811 PDGFRA-associated chronic eosinophilic leukemiaPDGFRA-associated chronic eosinophilic leukemia 百科内容 → 812 Sick sinus syndromeSick sinus syndrome 百科内容 → 813 Familial restrictive cardiomyopathyFamilial restrictive cardiomyopathy 百科内容 → 814 D-bifunctional protein deficiencyD-bifunctional protein deficiency 百科内容 → 815 Intrahepatic cholestasis of pregnancyIntrahepatic cholestasis of pregnancy 百科内容 → 816 Yao syndromeYao syndrome 百科内容 → 817 Alpers-Huttenlocher syndromeAlpers-Huttenlocher syndrome 百科内容 → 818 Erdheim-Chester diseaseErdheim-Chester disease 百科内容 → 819 Familial hyperaldosteronismFamilial hyperaldosteronism 百科内容 → 820 15q13.3 microdeletion15q13.3 microdeletion 百科内容 → 821 LymphangioleiomyomatosisLymphangioleiomyomatosis 百科内容 → 822 Andersen-Tawil syndromeAndersen-Tawil syndrome 百科内容 → 823 Floating-Harbor syndromeFloating-Harbor syndrome 百科内容 → 824 Isolated ectopia lentisIsolated ectopia lentis 百科内容 → 825 MBD5-associated neurodevelopmental disorderMBD5-associated neurodevelopmental disorder 百科内容 → 826 Dihydropyrimidinase deficiencyDihydropyrimidinase deficiency 百科内容 → 827 Laryngo-onycho-cutaneous syndromeLaryngo-onycho-cutaneous syndrome 百科内容 → 828 Snyder-Robinson syndromeSnyder-Robinson syndrome 百科内容 → 829 3-methylglutaconyl-CoA hydratase deficiency3-methylglutaconyl-CoA hydratase deficiency 百科内容 → 830 Primary localized cutaneous amyloidosisPrimary localized cutaneous amyloidosis 百科内容 → 831 Retroperitoneal fibrosisRetroperitoneal fibrosis 百科内容 → 832 Activated PI3K-delta syndromeActivated PI3K-delta syndrome 百科内容 → 833 Very long-chain acyl-CoA dehydrogenase deficiencyVery long-chain acyl-CoA dehydrogenase deficiency 百科内容 → 834 Hereditary leiomyomatosis and renal cell cancerHereditary leiomyomatosis and renal cell cancer 百科内容 → 835 Androgen insensitivity syndromeAndrogen insensitivity syndrome 百科内容 → 836 Pyridoxal phosphate-responsive seizuresPyridoxal phosphate-responsive seizures 百科内容 → 837 Tay-Sachs diseaseTay-Sachs disease 百科内容 → 838 GRN-related frontotemporal lobar degenerationGRN-related frontotemporal lobar degeneration 百科内容 → 839 Blepharocheilodontic syndromeBlepharocheilodontic syndrome 百科内容 → 840 CLN10 diseaseCLN10 disease 百科内容 → 841 Autosomal recessive congenital methemoglobinemiaAutosomal recessive congenital methemoglobinemia 百科内容 → 842 Gnathodiaphyseal dysplasiaGnathodiaphyseal dysplasia 百科内容 → 843 RetinoblastomaRetinoblastoma 百科内容 → 844 Distal hereditary motor neuropathy, type IIDistal hereditary motor neuropathy, type II 百科内容 → 845 Dopa-responsive dystoniaDopa-responsive dystonia 百科内容 → 846 3q29 microdeletion syndrome3q29 microdeletion syndrome 百科内容 → 847 Imerslund-Gräsbeck syndromeImerslund-Gräsbeck syndrome 百科内容 → 848 Deafness-dystonia-optic neuronopathy syndromeDeafness-dystonia-optic neuronopathy syndrome 百科内容 → 849 Glutaric acidemia type IGlutaric acidemia type I 百科内容 → 850 Centronuclear myopathyCentronuclear myopathy 百科内容 → 851 2-hydroxyglutaric aciduria2-hydroxyglutaric aciduria 百科内容 → 852 ADCY5-related dyskinesiaADCY5-related dyskinesia 百科内容 → 853 Ankyrin-B syndromeAnkyrin-B syndrome 百科内容 → 854 Familial hemophagocytic lymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis 百科内容 → 855 Trichohepatoenteric syndromeTrichohepatoenteric syndrome 百科内容 → 856 Nail-patella syndromeNail-patella syndrome 百科内容 → 857 Auriculocondylar syndromeAuriculocondylar syndrome 百科内容 → 858 X-linked spondyloepiphyseal dysplasia tardaX-linked spondyloepiphyseal dysplasia tarda 百科内容 → 859 Oculopharyngeal muscular dystrophyOculopharyngeal muscular dystrophy 百科内容 → 860 Pyruvate carboxylase deficiencyPyruvate carboxylase deficiency 百科内容 → 861 Gillespie syndromeGillespie syndrome 百科内容 → 862 MelorheostosisMelorheostosis 百科内容 → 863 Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularisNaegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis 百科内容 → 864 Core binding factor acute myeloid leukemiaCore binding factor acute myeloid leukemia 百科内容 → 865 Cytochrome c oxidase deficiencyCytochrome c oxidase deficiency 百科内容 → 866 Dystonia 16Dystonia 16 百科内容 → 867 Glycogen storage disease type VGlycogen storage disease type V 百科内容 → 868 KBG syndromeKBG syndrome 百科内容 → 869 Mandibuloacral dysplasiaMandibuloacral dysplasia 百科内容 → 870 Bosma arhinia microphthalmia syndromeBosma arhinia microphthalmia syndrome 百科内容 → 871 Larsen syndromeLarsen syndrome 百科内容 → 872 Alternating hemiplegia of childhoodAlternating hemiplegia of childhood 百科内容 → 873 Retinitis pigmentosaRetinitis pigmentosa 百科内容 → 874 C3 glomerulopathyC3 glomerulopathy 百科内容 → 875 Familial encephalopathy with neuroserpin inclusion bodiesFamilial encephalopathy with neuroserpin inclusion bodies 百科内容 → 876 Aarskog-Scott syndromeAarskog-Scott syndrome 百科内容 → 877 Primary hyperoxaluriaPrimary hyperoxaluria 百科内容 → 878 Hereditary spherocytosisHereditary spherocytosis 百科内容 → 879 GM3 synthase deficiencyGM3 synthase deficiency 百科内容 → 880 HIVEP2-related intellectual disabilityHIVEP2-related intellectual disability 百科内容 → 881 Isolated Pierre Robin sequenceIsolated Pierre Robin sequence 百科内容 → 882 Intestinal pseudo-obstructionIntestinal pseudo-obstruction 百科内容 → 883 Multiple familial trichoepitheliomaMultiple familial trichoepithelioma 百科内容 → 884 NephronophthisisNephronophthisis 百科内容 → 885 Carnitine palmitoyltransferase I deficiencyCarnitine palmitoyltransferase I deficiency 百科内容 → 886 Congenital insensitivity to pain with anhidrosisCongenital insensitivity to pain with anhidrosis 百科内容 → 887 Lowe syndromeLowe syndrome 百科内容 → 888 Burn-McKeown syndromeBurn-McKeown syndrome 百科内容 → 889 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 百科内容 → 890 Otopalatodigital syndrome type 1Otopalatodigital syndrome type 1 百科内容 → 891 AniridiaAniridia 百科内容 → 892 Kabuki syndromeKabuki syndrome 百科内容 → 893 Congenital diaphragmatic herniaCongenital diaphragmatic hernia 百科内容 → 894 Pfeiffer syndromePfeiffer syndrome 百科内容 → 895 Acute promyelocytic leukemiaAcute promyelocytic leukemia 百科内容 → 896 Autosomal dominant epilepsy with auditory featuresAutosomal dominant epilepsy with auditory features 百科内容 → 897 Adenine phosphoribosyltransferase deficiencyAdenine phosphoribosyltransferase deficiency 百科内容 → 898 Sporadic hemiplegic migraineSporadic hemiplegic migraine 百科内容 → 899 Microcephaly-capillary malformation syndromeMicrocephaly-capillary malformation syndrome 百科内容 → 900 Melnick-Needles syndromeMelnick-Needles syndrome 百科内容 → 901 Prothrombin thrombophiliaProthrombin thrombophilia 百科内容 → 902 SETBP1 haploinsufficiency disorderSETBP1 haploinsufficiency disorder 百科内容 → 903 Sudden infant death with dysgenesis of the testes syndromeSudden infant death with dysgenesis of the testes syndrome 百科内容 → 904 Benign recurrent intrahepatic cholestasisBenign recurrent intrahepatic cholestasis 百科内容 → 905 CLN11 diseaseCLN11 disease 百科内容 → 906 GNE myopathyGNE myopathy 百科内容 → 907 Saethre-Chotzen syndromeSaethre-Chotzen syndrome 百科内容 → 908 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 百科内容 → 909 CLCN2-related leukoencephalopathyCLCN2-related leukoencephalopathy 百科内容 → 910 HyperlysinemiaHyperlysinemia 百科内容 → 911 Ollier diseaseOllier disease 百科内容 → 912 Mucolipidosis II alpha/betaMucolipidosis II alpha/beta 百科内容 → 913 Myofibrillar myopathyMyofibrillar myopathy 百科内容 → 914 Leukocyte adhesion deficiency type 1Leukocyte adhesion deficiency type 1 百科内容 → 915 2q37 deletion syndrome2q37 deletion syndrome 百科内容 → 916 Anauxetic dysplasiaAnauxetic dysplasia 百科内容 → 917 Surfactant dysfunctionSurfactant dysfunction 百科内容 → 918 Juvenile Paget diseaseJuvenile Paget disease 百科内容 → 919 Pantothenate kinase-associated neurodegenerationPantothenate kinase-associated neurodegeneration 百科内容 → 920 X-linked agammaglobulinemiaX-linked agammaglobulinemia 百科内容 → 921 Short/branched chain acyl-CoA dehydrogenase deficiencyShort/branched chain acyl-CoA dehydrogenase deficiency 百科内容 → 922 Donnai-Barrow syndromeDonnai-Barrow syndrome 百科内容 → 923 Farber lipogranulomatosisFarber lipogranulomatosis 百科内容 → 924 22q13.3 deletion syndrome22q13.3 deletion syndrome 百科内容 → 925 Hereditary sensory neuropathy type IAHereditary sensory neuropathy type IA 百科内容 → 926 Familial paroxysmal nonkinesigenic dyskinesiaFamilial paroxysmal nonkinesigenic dyskinesia 百科内容 → 927 VEXAS syndromeVEXAS syndrome 百科内容 → 928 Crigler-Najjar syndromeCrigler-Najjar syndrome 百科内容 → 929 Familial hemiplegic migraineFamilial hemiplegic migraine 百科内容 → 930 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variantOhdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 百科内容 → 931 Episodic ataxiaEpisodic ataxia 百科内容 → 932 Factor V Leiden thrombophiliaFactor V Leiden thrombophilia 百科内容 → 933 Primary familial brain calcificationPrimary familial brain calcification 百科内容 → 934 X-linked juvenile retinoschisisX-linked juvenile retinoschisis 百科内容 → 935 X-linked sideroblastic anemia and ataxiaX-linked sideroblastic anemia and ataxia 百科内容 → 936 Frontometaphyseal dysplasiaFrontometaphyseal dysplasia 百科内容 → 937 AspartylglucosaminuriaAspartylglucosaminuria 百科内容 → 938 Nager syndromeNager syndrome 百科内容 → 939 Protein S deficiencyProtein S deficiency 百科内容 → 940 Adams-Oliver syndromeAdams-Oliver syndrome 百科内容 → 941 Meier-Gorlin syndromeMeier-Gorlin syndrome 百科内容 → 942 8p11 myeloproliferative syndrome8p11 myeloproliferative syndrome 百科内容 → 943 Genitopatellar syndromeGenitopatellar syndrome 百科内容 → 944 Mitochondrial neurogastrointestinal encephalopathy diseaseMitochondrial neurogastrointestinal encephalopathy disease 百科内容 → 945 Atelosteogenesis type 3Atelosteogenesis type 3 百科内容 → 946 Hypomyelination with brainstem and spinal cord involvement and leg spasticityHypomyelination with brainstem and spinal cord involvement and leg spasticity 百科内容 → 947 Coffin-Siris syndromeCoffin-Siris syndrome 百科内容 → 948 Baraitser-Winter syndromeBaraitser-Winter syndrome 百科内容 → 949 Majeed syndromeMajeed syndrome 百科内容 → 950 Trichorhinophalangeal syndrome type ITrichorhinophalangeal syndrome type I 百科内容 → 951 Renal tubular dysgenesisRenal tubular dysgenesis 百科内容 → 952 Cytogenetically normal acute myeloid leukemiaCytogenetically normal acute myeloid leukemia 百科内容 → 953 Dopamine beta-hydroxylase deficiencyDopamine beta-hydroxylase deficiency 百科内容 → 954 Progressive myoclonic epilepsy type 1Progressive myoclonic epilepsy type 1 百科内容 → 955 Prolidase deficiencyProlidase deficiency 百科内容 → 956 Dopamine transporter deficiency syndromeDopamine transporter deficiency syndrome 百科内容 → 957 Intervertebral disc diseaseIntervertebral disc disease 百科内容 → 958 Leber hereditary optic neuropathyLeber hereditary optic neuropathy 百科内容 → 959 Sandhoff diseaseSandhoff disease 百科内容 → 960 Carbonic anhydrase VA deficiencyCarbonic anhydrase VA deficiency 百科内容 → 961 LMNA-related congenital muscular dystrophyLMNA-related congenital muscular dystrophy 百科内容 → 962 Subcortical band heterotopiaSubcortical band heterotopia 百科内容 → 963 FG syndromeFG syndrome 百科内容 → 964 Familial focal epilepsy with variable fociFamilial focal epilepsy with variable foci 百科内容 → 965 Aromatic l-amino acid decarboxylase deficiencyAromatic l-amino acid decarboxylase deficiency 百科内容 → 966 Autosomal dominant cerebellar ataxia, deafness, and narcolepsyAutosomal dominant cerebellar ataxia, deafness, and narcolepsy 百科内容 → 967 Idiopathic inflammatory myopathyIdiopathic inflammatory myopathy 百科内容 → 968 Pseudocholinesterase deficiencyPseudocholinesterase deficiency 百科内容 → 969 Warfarin resistanceWarfarin resistance 百科内容 → 970 RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathyRRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 百科内容 → 971 Knobloch syndromeKnobloch syndrome 百科内容 → 972 Costeff syndromeCosteff syndrome 百科内容 → 973 Asparagine synthetase deficiencyAsparagine synthetase deficiency 百科内容 → 974 Transcobalamin deficiencyTranscobalamin deficiency 百科内容 → 975 SLC35A2-congenital disorder of glycosylationSLC35A2-congenital disorder of glycosylation 百科内容 → 976 CLN6 diseaseCLN6 disease 百科内容 → 977 Spondylothoracic dysostosisSpondylothoracic dysostosis 百科内容 → 978 Early-onset glaucomaEarly-onset glaucoma 百科内容 → 979 Laron syndromeLaron syndrome 百科内容 → 980 GRIN2B-related neurodevelopmental disorderGRIN2B-related neurodevelopmental disorder 百科内容 → 981 Hereditary sensory and autonomic neuropathy type IEHereditary sensory and autonomic neuropathy type IE 百科内容 → 982 FibrochondrogenesisFibrochondrogenesis 百科内容 → 983 Griscelli syndromeGriscelli syndrome 百科内容 → 984 Blepharophimosis, ptosis, and epicanthus inversus syndromeBlepharophimosis, ptosis, and epicanthus inversus syndrome 百科内容 → 985 Char syndromeChar syndrome 百科内容 → 986 Permanent neonatal diabetes mellitusPermanent neonatal diabetes mellitus 百科内容 → 987 SchwannomatosisSchwannomatosis 百科内容 → 988 Encephalocraniocutaneous lipomatosisEncephalocraniocutaneous lipomatosis 百科内容 → 989 Autosomal recessive spastic ataxia of Charlevoix-SaguenayAutosomal recessive spastic ataxia of Charlevoix-Saguenay 百科内容 → 990 CHMP2B-related frontotemporal dementiaCHMP2B-related frontotemporal dementia 百科内容 → 991 Channelopathy-associated congenital insensitivity to painChannelopathy-associated congenital insensitivity to pain 百科内容 → 992 Periventricular heterotopiaPeriventricular heterotopia 百科内容 → 993 Oculofaciocardiodental syndromeOculofaciocardiodental syndrome 百科内容 → 994 Small fiber neuropathySmall fiber neuropathy 百科内容 → 995 Wilms tumorWilms tumor 百科内容 → 996 Hypohidrotic ectodermal dysplasiaHypohidrotic ectodermal dysplasia 百科内容 → 997 Infantile-onset spinocerebellar ataxiaInfantile-onset spinocerebellar ataxia 百科内容 → 998 PURA syndromePURA syndrome 百科内容 → 999 Huntington's diseaseHuntington's disease 百科内容 → 1000 Waardenburg syndromeWaardenburg syndrome 百科内容 → 1001 Cap myopathyCap myopathy 百科内容 → 1002 Polycystic kidney diseasePolycystic kidney disease 百科内容 → 1003 Hereditary fructose intoleranceHereditary fructose intolerance 百科内容 → 1004 Popliteal pterygium syndromePopliteal pterygium syndrome 百科内容 → 1005 SCN8A-related epilepsy with encephalopathySCN8A-related epilepsy with encephalopathy 百科内容 → 1006 47,XYY syndrome47,XYY syndrome 百科内容 → 1007 Kniest dysplasiaKniest dysplasia 百科内容 → 1008 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathyCerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 百科内容 → 1009 Mitochondrial complex III deficiencyMitochondrial complex III deficiency 百科内容 → 1010 Adenosine deaminase 2 deficiencyAdenosine deaminase 2 deficiency 百科内容 → 1011 Congenital bile acid synthesis defect type 1Congenital bile acid synthesis defect type 1 百科内容 → 1012 Progressive pseudorheumatoid dysplasiaProgressive pseudorheumatoid dysplasia 百科内容 → 1013 Partington syndromePartington syndrome 百科内容 → 1014 Arginine vasopressin deficiencyArginine vasopressin deficiency 百科内容 → 1015 Hereditary hyperekplexiaHereditary hyperekplexia 百科内容 → 1016 CherubismCherubism 百科内容 → 1017 Scalp-ear-nipple syndromeScalp-ear-nipple syndrome 百科内容 → 1018 Fragile X-associated primary ovarian insufficiencyFragile X-associated primary ovarian insufficiency 百科内容 → 1019 PilomatricomaPilomatricoma 百科内容 → 1020 Asphyxiating thoracic dystrophyAsphyxiating thoracic dystrophy 百科内容 → 1021 CLN2 diseaseCLN2 disease 百科内容 → 1022 Clopidogrel resistanceClopidogrel resistance 百科内容 → 1023 Craniometaphyseal dysplasiaCraniometaphyseal dysplasia 百科内容 → 1024 Parkes Weber syndromeParkes Weber syndrome 百科内容 → 1025 19p13.13 deletion syndrome19p13.13 deletion syndrome 百科内容 → 1026 Perrault syndromePerrault syndrome 百科内容 → 1027 Beare-Stevenson cutis gyrata syndromeBeare-Stevenson cutis gyrata syndrome 百科内容 → 1028 Glutathione synthetase deficiencyGlutathione synthetase deficiency 百科内容 → 1029 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 百科内容 → 1030 Essential thrombocythemiaEssential thrombocythemia 百科内容 → 1031 MyD88 deficiencyMyD88 deficiency 百科内容 → 1032 Tumor necrosis factor receptor-associated periodic syndromeTumor necrosis factor receptor-associated periodic syndrome 百科内容 → 1033 Alexander diseaseAlexander disease 百科内容 → 1034 Ataxia-pancytopenia syndromeAtaxia-pancytopenia syndrome 百科内容 → 1035 ALG12-congenital disorder of glycosylationALG12-congenital disorder of glycosylation 百科内容 → 1036 Oculocutaneous albinismOculocutaneous albinism 百科内容 → 1037 Familial osteochondritis dissecansFamilial osteochondritis dissecans 百科内容 → 1038 Familial exudative vitreoretinopathyFamilial exudative vitreoretinopathy 百科内容 → 1039 Silver-Russell syndromeSilver-Russell syndrome 百科内容 → 1040 Hereditary angioedemaHereditary angioedema 百科内容 → 1041 Canavan diseaseCanavan disease 百科内容 → 1042 Mitochondrial membrane protein-associated neurodegenerationMitochondrial membrane protein-associated neurodegeneration 百科内容 → 1043 Miller syndromeMiller syndrome 百科内容 → 1044 Protein C deficiencyProtein C deficiency 百科内容 → 1045 Age-related hearing lossAge-related hearing loss 百科内容 → 1046 Multicentric osteolysis, nodulosis, and arthropathyMulticentric osteolysis, nodulosis, and arthropathy 百科内容 → 1047 Lujan syndromeLujan syndrome 百科内容 → 1048 White-Sutton syndromeWhite-Sutton syndrome 百科内容 → 1049 Krabbe diseaseKrabbe disease 百科内容 → 1050 Emery-Dreifuss muscular dystrophyEmery-Dreifuss muscular dystrophy 百科内容 → 1051 Weissenbacher-Zweymüller syndromeWeissenbacher-Zweymüller syndrome 百科内容 → 1052 Ewing sarcomaEwing sarcoma 百科内容 → 1053 Spastic paraplegia type 5ASpastic paraplegia type 5A 百科内容 → 1054 Tarsal-carpal coalition syndromeTarsal-carpal coalition syndrome 百科内容 → 1055 Pseudoxanthoma elasticumPseudoxanthoma elasticum 百科内容 → 1056 Keratitis-ichthyosis-deafness syndromeKeratitis-ichthyosis-deafness syndrome 百科内容 → 1057 Anophthalmia/microphthalmia-esophageal atresia syndromeAnophthalmia/microphthalmia-esophageal atresia syndrome 百科内容 → 1058 Medullary cystic kidney disease type 1Medullary cystic kidney disease type 1 百科内容 → 1059 Osteoporosis-pseudoglioma syndromeOsteoporosis-pseudoglioma syndrome 百科内容 → 1060 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasiaX-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 百科内容 → 1061 Early-onset isolated dystoniaEarly-onset isolated dystonia 百科内容 → 1062 Isolated Duane retraction syndromeIsolated Duane retraction syndrome 百科内容 → 1063 Polycythemia veraPolycythemia vera 百科内容 → 1064 X-linked dystonia-parkinsonismX-linked dystonia-parkinsonism 百科内容 → 1065 Congenital bile acid synthesis defect type 2Congenital bile acid synthesis defect type 2 百科内容 → 1066 Inherited thyroxine-binding globulin deficiencyInherited thyroxine-binding globulin deficiency 百科内容 → 1067 Moyamoya diseaseMoyamoya disease 百科内容 → 1068 Acrocallosal syndromeAcrocallosal syndrome 百科内容 → 1069 Myotonia congenitaMyotonia congenita 百科内容 → 1070 3p deletion syndrome3p deletion syndrome 百科内容 → 1071 Congenital myasthenic syndromesCongenital myasthenic syndromes 百科内容 → 1072 Potocki-Shaffer syndromePotocki-Shaffer syndrome 百科内容 → 1073 Liebenberg syndromeLiebenberg syndrome 百科内容 → 1074 Fibrodysplasia ossificans progressivaFibrodysplasia ossificans progressiva 百科内容 → 1075 Sheldon-Hall syndromeSheldon-Hall syndrome 百科内容 → 1076 Factor XI deficiencyFactor XI deficiency 百科内容 → 1077 Cockayne syndromeCockayne syndrome 百科内容 → 1078 Vitelliform macular dystrophyVitelliform macular dystrophy 百科内容 → 1079 Benign essential blepharospasmBenign essential blepharospasm 百科内容 → 1080 Hereditary multiple osteochondromasHereditary multiple osteochondromas 百科内容 → 1081 Spinocerebellar ataxia type 3Spinocerebellar ataxia type 3 百科内容 → 1082 Hypomyelination and congenital cataractHypomyelination and congenital cataract 百科内容 → 1083 CHILD syndromeCHILD syndrome 百科内容 → 1084 Cerebral cavernous malformationCerebral cavernous malformation 百科内容 → 1085 Recurrent hydatidiform moleRecurrent hydatidiform mole 百科内容 → 1086 Complement component 2 deficiencyComplement component 2 deficiency 百科内容 → 1087 Nonsyndromic aplasia cutis congenitaNonsyndromic aplasia cutis congenita 百科内容 → 1088 REN-related kidney diseaseREN-related kidney disease 百科内容 → 1089 Acromicric dysplasiaAcromicric dysplasia 百科内容 → 1090 Tubular aggregate myopathyTubular aggregate myopathy 百科内容 → 1091 Cone-rod dystrophyCone-rod dystrophy 百科内容 → 1092 Familial Mediterranean feverFamilial Mediterranean fever 百科内容 → 1093 Otospondylomegaepiphyseal dysplasiaOtospondylomegaepiphyseal dysplasia 百科内容 → 1094 Nonsyndromic dilated cardiomyopathyNonsyndromic dilated cardiomyopathy 百科内容 → 1095 Lactate dehydrogenase deficiencyLactate dehydrogenase deficiency 百科内容 → 1096 Tibial muscular dystrophyTibial muscular dystrophy 百科内容 → 1097 FOXP2-related speech and language disorderFOXP2-related speech and language disorder 百科内容 → 1098 X-linked sideroblastic anemiaX-linked sideroblastic anemia 百科内容 → 1099 PseudoachondroplasiaPseudoachondroplasia 百科内容 → 1100 Neurofibromatosis type 2Neurofibromatosis type 2 百科内容 → 1101 Phosphoglycerate kinase deficiencyPhosphoglycerate kinase deficiency 百科内容 → 1102 HSD10 diseaseHSD10 disease 百科内容 → 1103 X-linked acrogigantismX-linked acrogigantism 百科内容 → 1104 Multiple system atrophyMultiple system atrophy 百科内容 → 1105 Paroxysmal extreme pain disorderParoxysmal extreme pain disorder 百科内容 → 1106 Dysequilibrium syndromeDysequilibrium syndrome 百科内容 → 1107 Lymphedema-distichiasis syndromeLymphedema-distichiasis syndrome 百科内容 → 1108 Complete LCAT deficiencyComplete LCAT deficiency 百科内容 → 1109 T-cell immunodeficiency, congenital alopecia, and nail dystrophyT-cell immunodeficiency, congenital alopecia, and nail dystrophy 百科内容 → 1110 Pulmonary alveolar microlithiasisPulmonary alveolar microlithiasis 百科内容 → 1111 Autosomal recessive primary microcephalyAutosomal recessive primary microcephaly 百科内容 → 1112 Hepatic veno-occlusive disease with immunodeficiencyHepatic veno-occlusive disease with immunodeficiency 百科内容 → 1113 MECP2-related severe neonatal encephalopathyMECP2-related severe neonatal encephalopathy 百科内容 → 1114 3-hydroxyacyl-CoA dehydrogenase deficiency3-hydroxyacyl-CoA dehydrogenase deficiency 百科内容 → 1115 Epidermolytic hyperkeratosisEpidermolytic hyperkeratosis 百科内容 → 1116 Perry syndromePerry syndrome 百科内容 → 1117 Proopiomelanocortin deficiencyProopiomelanocortin deficiency 百科内容 → 1118 17q12 duplication17q12 duplication 百科内容 → 1119 Weaver syndromeWeaver syndrome 百科内容 → 1120 Isobutyryl-CoA dehydrogenase deficiencyIsobutyryl-CoA dehydrogenase deficiency 百科内容 → 1121 X-linked chondrodysplasia punctata 1X-linked chondrodysplasia punctata 1 百科内容 → 1122 Combined oxidative phosphorylation deficiency 1Combined oxidative phosphorylation deficiency 1 百科内容 → 1123 Pyruvate kinase deficiencyPyruvate kinase deficiency 百科内容 → 1124 Factor XIII deficiencyFactor XIII deficiency 百科内容 → 1125 5q minus syndrome5q minus syndrome 百科内容 → 1126 KCNK9 imprinting syndromeKCNK9 imprinting syndrome 百科内容 → 1127 Ocular albinismOcular albinism 百科内容 → 1128 Feingold syndromeFeingold syndrome 百科内容 → 1129 1p36 deletion syndrome1p36 deletion syndrome 百科内容 → 1130 Gilbert syndromeGilbert syndrome 百科内容 → 1131 Harlequin ichthyosisHarlequin ichthyosis 百科内容 → 1132 X-linked thrombocytopeniaX-linked thrombocytopenia 百科内容 → 1133 Ménière diseaseMénière disease 百科内容 → 1134 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodesMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 百科内容 → 1135 Fundus albipunctatusFundus albipunctatus 百科内容 → 1136 Short-chain acyl-CoA dehydrogenase deficiencyShort-chain acyl-CoA dehydrogenase deficiency 百科内容 → 1137 Denys-Drash syndromeDenys-Drash syndrome 百科内容 → 1138 Primary myelofibrosisPrimary myelofibrosis 百科内容 → 1139 Renpenning syndromeRenpenning syndrome 百科内容 → 1140 X-linked lissencephaly with abnormal genitaliaX-linked lissencephaly with abnormal genitalia 百科内容 → 1141 Clouston syndromeClouston syndrome 百科内容 → 1142 GM2 activator deficiencyGM2 activator deficiency 百科内容 → 1143 Glutaric acidemia type IIGlutaric acidemia type II 百科内容 → 1144 Primary spontaneous pneumothoraxPrimary spontaneous pneumothorax 百科内容 → 1145 Congenital contractural arachnodactylyCongenital contractural arachnodactyly 百科内容 → 1146 5-alpha reductase deficiency5-alpha reductase deficiency 百科内容 → 1147 Warfarin sensitivityWarfarin sensitivity 百科内容 → 1148 Craniofacial-deafness-hand syndromeCraniofacial-deafness-hand syndrome 百科内容 → 1149 Ochoa syndromeOchoa syndrome 百科内容 → 1150 6q24-related transient neonatal diabetes mellitus6q24-related transient neonatal diabetes mellitus 百科内容 → 1151 DNMT3A overgrowth syndromeDNMT3A overgrowth syndrome 百科内容 → 1152 AchromatopsiaAchromatopsia 百科内容 → 1153 ChordomaChordoma 百科内容 → 1154 Pulmonary arterial hypertensionPulmonary arterial hypertension 百科内容 → 1155 Spinocerebellar ataxia type 2Spinocerebellar ataxia type 2 百科内容 → 1156 Autosomal recessive axonal neuropathy with neuromyotoniaAutosomal recessive axonal neuropathy with neuromyotonia 百科内容 → 1157 Angelman syndromeAngelman syndrome 百科内容 → 1158 Actin-accumulation myopathyActin-accumulation myopathy 百科内容 → 1159 Familial isolated hyperparathyroidismFamilial isolated hyperparathyroidism 百科内容 → 1160 Autosomal dominant tubulointerstitial kidney disease-UMODAutosomal dominant tubulointerstitial kidney disease-UMOD 百科内容 → 1161 Enlarged parietal foraminaEnlarged parietal foramina 百科内容 → 1162 Cohen syndromeCohen syndrome 百科内容 → 1163 Omenn syndromeOmenn syndrome 百科内容 → 1164 AdermatoglyphiaAdermatoglyphia 百科内容 → 1165 Isolated congenital aspleniaIsolated congenital asplenia 百科内容 → 1166 17-beta hydroxysteroid dehydrogenase 3 deficiency17-beta hydroxysteroid dehydrogenase 3 deficiency 百科内容 → 1167 CLN5 diseaseCLN5 disease 百科内容 → 1168 HypochondroplasiaHypochondroplasia 百科内容 → 1169 Winchester syndromeWinchester syndrome 百科内容 → 1170 Bare lymphocyte syndrome type IIBare lymphocyte syndrome type II 百科内容 → 1171 X-linked congenital stationary night blindnessX-linked congenital stationary night blindness 百科内容 → 1172 Hepatic lipase deficiencyHepatic lipase deficiency 百科内容 → 1173 Cushing diseaseCushing disease 百科内容 → 1174 Lysinuric protein intoleranceLysinuric protein intolerance 百科内容 → 1175 Spastic paraplegia type 4Spastic paraplegia type 4 百科内容 → 1176 Androgenetic alopeciaAndrogenetic alopecia 百科内容 → 1177 Familial glucocorticoid deficiencyFamilial glucocorticoid deficiency 百科内容 → 1178 Multiple mitochondrial dysfunctions syndromeMultiple mitochondrial dysfunctions syndrome 百科内容 → 1179 Spastic paraplegia type 3ASpastic paraplegia type 3A 百科内容 → 1180 Pyruvate dehydrogenase deficiencyPyruvate dehydrogenase deficiency 百科内容 → 1181 Fragile X syndromeFragile X syndrome 百科内容 → 1182 Glucose-6-phosphate dehydrogenase deficiencyGlucose-6-phosphate dehydrogenase deficiency 百科内容 → 1183 Hereditary antithrombin deficiencyHereditary antithrombin deficiency 百科内容 → 1184 Intranuclear rod myopathyIntranuclear rod myopathy 百科内容 → 1185 Myoclonic epilepsy myopathy sensory ataxiaMyoclonic epilepsy myopathy sensory ataxia 百科内容 → 1186 X-linked dilated cardiomyopathyX-linked dilated cardiomyopathy 百科内容 → 1187 IRAK-4 deficiencyIRAK-4 deficiency 百科内容 → 1188 Left ventricular noncompactionLeft ventricular noncompaction 百科内容 → 1189 16p11.2 deletion syndrome16p11.2 deletion syndrome 百科内容 → 1190 BradyopsiaBradyopsia 百科内容 → 1191 Generalized pustular psoriasisGeneralized pustular psoriasis 百科内容 → 1192 Isolated hyperchlorhidrosisIsolated hyperchlorhidrosis 百科内容 → 1193 Head and neck squamous cell carcinomaHead and neck squamous cell carcinoma 百科内容 → 1194 Optic atrophy type 1Optic atrophy type 1 百科内容 → 1195 CLN4 diseaseCLN4 disease 百科内容 → 1196 Developmental and epileptic encephalopathy 1Developmental and epileptic encephalopathy 1 百科内容 → 1197 GRACILE syndromeGRACILE syndrome 百科内容 → 1198 5q31.3 microdeletion syndrome5q31.3 microdeletion syndrome 百科内容 → 1199 Brugada syndromeBrugada syndrome 百科内容 → 1200 Glucose phosphate isomerase deficiencyGlucose phosphate isomerase deficiency 百科内容 → 1201 Multiple epiphyseal dysplasiaMultiple epiphyseal dysplasia 百科内容 → 1202 ACAD9 deficiencyACAD9 deficiency 百科内容 → 1203 Myopathy with deficiency of iron-sulfur cluster assembly enzymeMyopathy with deficiency of iron-sulfur cluster assembly enzyme 百科内容 → 1204 Smith-Kingsmore syndromeSmith-Kingsmore syndrome 百科内容 → 1205 Autosomal dominant vitreoretinochoroidopathyAutosomal dominant vitreoretinochoroidopathy 百科内容 → 1206 Renal hypouricemiaRenal hypouricemia 百科内容 → 1207 3-hydroxy-3-methylglutaryl-CoA lyase deficiency3-hydroxy-3-methylglutaryl-CoA lyase deficiency 百科内容 → 1208 Renal coloboma syndromeRenal coloboma syndrome 百科内容 → 1209 Myoclonic epilepsy with ragged-red fibersMyoclonic epilepsy with ragged-red fibers 百科内容 → 1210 Meckel syndromeMeckel syndrome 百科内容 → 1211 Spastic paraplegia type 8Spastic paraplegia type 8 百科内容 → 1212 Dentinogenesis imperfectaDentinogenesis imperfecta 百科内容 → 1213 Early-onset myopathy with fatal cardiomyopathyEarly-onset myopathy with fatal cardiomyopathy 百科内容 → 1214 Mitochondrial trifunctional protein deficiencyMitochondrial trifunctional protein deficiency 百科内容 → 1215 FucosidosisFucosidosis 百科内容 → 1216 Bowen-Conradi syndromeBowen-Conradi syndrome 百科内容 → 1217 Retinal arterial macroaneurysm with supravalvular pulmonic stenosisRetinal arterial macroaneurysm with supravalvular pulmonic stenosis 百科内容 → 1218 Hyperkalemic periodic paralysisHyperkalemic periodic paralysis 百科内容 → 1219 Adiposis dolorosaAdiposis dolorosa 百科内容 → 1220 Senior-Løken syndromeSenior-Løken syndrome 百科内容 → 1221 Spondylocarpotarsal synostosis syndromeSpondylocarpotarsal synostosis syndrome 百科内容 → 1222 Horizontal gaze palsy with progressive scoliosisHorizontal gaze palsy with progressive scoliosis 百科内容 → 1223 Hyperferritinemia-cataract syndromeHyperferritinemia-cataract syndrome 百科内容 → 1224 Silver syndromeSilver syndrome 百科内容 → 1225 Kleefstra syndromeKleefstra syndrome 百科内容 → 1226 Hand-foot-genital syndromeHand-foot-genital syndrome 百科内容 → 1227 CHST3-related skeletal dysplasiaCHST3-related skeletal dysplasia 百科内容 → 1228 Spastic paraplegia type 31Spastic paraplegia type 31 百科内容 → 1229 Myosin storage myopathyMyosin storage myopathy 百科内容 → 1230 Fibronectin glomerulopathyFibronectin glomerulopathy 百科内容 → 1231 Severe congenital neutropeniaSevere congenital neutropenia 百科内容 → 1232 Cornelia de Lange syndromeCornelia de Lange syndrome 百科内容 → 1233 Coffin-Lowry syndromeCoffin-Lowry syndrome 百科内容 → 1234 Werner syndromeWerner syndrome 百科内容 → 1235 N-acetylglutamate synthase deficiencyN-acetylglutamate synthase deficiency 百科内容 → 1236 PRICKLE1-related progressive myoclonus epilepsy with ataxiaPRICKLE1-related progressive myoclonus epilepsy with ataxia 百科内容 → 1237 Cryptogenic cirrhosisCryptogenic cirrhosis 百科内容 → 1238 Ataxia neuropathy spectrumAtaxia neuropathy spectrum 百科内容 → 1239 Congenital nephrotic syndromeCongenital nephrotic syndrome 百科内容 → 1240 Spinal muscular atrophy with lower extremity predominanceSpinal muscular atrophy with lower extremity predominance 百科内容 → 1241 16p12.2 microdeletion16p12.2 microdeletion 百科内容 → 1242 ErythromelalgiaErythromelalgia 百科内容 → 1243 Treacher Collins syndromeTreacher Collins syndrome 百科内容 → 1244 PiebaldismPiebaldism 百科内容 → 1245 Leydig cell hypoplasiaLeydig cell hypoplasia 百科内容 → 1246 3MC syndrome3MC syndrome 百科内容 → 1247 Horner syndromeHorner syndrome 百科内容 → 1248 Miller-Dieker syndromeMiller-Dieker syndrome 百科内容 → 1249 SUCLG1-related mitochondrial DNA depletion syndromeSUCLG1-related mitochondrial DNA depletion syndrome 百科内容 → 1250 Hereditary myopathy with early respiratory failureHereditary myopathy with early respiratory failure 百科内容 → 1251 Corticosterone methyloxidase deficiencyCorticosterone methyloxidase deficiency 百科内容 → 1252 Glanzmann thrombastheniaGlanzmann thrombasthenia 百科内容 → 1253 Congenital sucrase-isomaltase deficiencyCongenital sucrase-isomaltase deficiency 百科内容 → 1254 COG5-congenital disorder of glycosylationCOG5-congenital disorder of glycosylation 百科内容 → 1255 Bietti crystalline dystrophyBietti crystalline dystrophy 百科内容 → 1256 Romano-Ward syndromeRomano-Ward syndrome 百科内容 → 1257 TK2-related mitochondrial DNA depletion syndrome, myopathic formTK2-related mitochondrial DNA depletion syndrome, myopathic form 百科内容 → 1258 Erythrokeratodermia variabilis et progressivaErythrokeratodermia variabilis et progressiva 百科内容 → 1259 Propionic acidemiaPropionic acidemia 百科内容 → 1260 HyperprolinemiaHyperprolinemia 百科内容 → 1261 MonilethrixMonilethrix 百科内容 → 1262 Adult polyglucosan body diseaseAdult polyglucosan body disease 百科内容 → 1263 Ophthalmo-acromelic syndromeOphthalmo-acromelic syndrome 百科内容 → 1264 X-linked adrenal hypoplasia congenitaX-linked adrenal hypoplasia congenita 百科内容 → 1265 Refsum diseaseRefsum disease 百科内容 → 1266 Vohwinkel syndromeVohwinkel syndrome 百科内容 → 1267 Color vision deficiencyColor vision deficiency 百科内容 → 1268 DesmosterolosisDesmosterolosis 百科内容 → 1269 Wagner syndromeWagner syndrome 百科内容 → 1270 ALG6-congenital disorder of glycosylationALG6-congenital disorder of glycosylation 百科内容 → 1271 Mucolipidosis III alpha/betaMucolipidosis III alpha/beta 百科内容 → 1272 Neuropathy, ataxia, and retinitis pigmentosaNeuropathy, ataxia, and retinitis pigmentosa 百科内容 → 1273 Paramyotonia congenitaParamyotonia congenita 百科内容 → 1274 Ring chromosome 14 syndromeRing chromosome 14 syndrome 百科内容 → 1275 Frasier syndromeFrasier syndrome 百科内容 → 1276 Rippling muscle diseaseRippling muscle disease 百科内容 → 1277 Boomerang dysplasiaBoomerang dysplasia 百科内容 → 1278 Hypomagnesemia with secondary hypocalcemiaHypomagnesemia with secondary hypocalcemia 百科内容 → 1279 Monoamine oxidase A deficiencyMonoamine oxidase A deficiency 百科内容 → 1280 Mayer-Rokitansky-Küster-Hauser syndromeMayer-Rokitansky-Küster-Hauser syndrome 百科内容 → 1281 Cyclic neutropeniaCyclic neutropenia 百科内容 → 1282 Spinocerebellar ataxia type 1Spinocerebellar ataxia type 1 百科内容 → 1283 Arginase deficiencyArginase deficiency 百科内容 → 1284 Laing distal myopathyLaing distal myopathy 百科内容 → 1285 Tangier diseaseTangier disease 百科内容 → 1286 Argininosuccinic aciduriaArgininosuccinic aciduria 百科内容 → 1287 Familial pityriasis rubra pilarisFamilial pityriasis rubra pilaris 百科内容 → 1288 SialuriaSialuria 百科内容 → 1289 Pyridoxine-dependent epilepsyPyridoxine-dependent epilepsy 百科内容 → 1290 Congenital hyperinsulinismCongenital hyperinsulinism 百科内容 → 1291 Microvillus inclusion diseaseMicrovillus inclusion disease 百科内容 → 1292 Complement component 8 deficiencyComplement component 8 deficiency 百科内容 → 1293 Primary macronodular adrenal hyperplasiaPrimary macronodular adrenal hyperplasia 百科内容 → 1294 Gordon Holmes syndromeGordon Holmes syndrome 百科内容 → 1295 AcatalasemiaAcatalasemia 百科内容 → 1296 Molybdenum cofactor deficiencyMolybdenum cofactor deficiency 百科内容 → 1297 Primary carnitine deficiencyPrimary carnitine deficiency 百科内容 → 1298 Gray platelet syndromeGray platelet syndrome 百科内容 → 1299 Nonbullous congenital ichthyosiform erythrodermaNonbullous congenital ichthyosiform erythroderma 百科内容 → 1300 MUTYH-associated polyposisMUTYH-associated polyposis 百科内容 → 1301 Phosphoribosylpyrophosphate synthetase superactivityPhosphoribosylpyrophosphate synthetase superactivity 百科内容 → 1302 Hypokalemic periodic paralysisHypokalemic periodic paralysis 百科内容 → 1303 Muenke syndromeMuenke syndrome 百科内容 → 1304 ZAP70-related severe combined immunodeficiencyZAP70-related severe combined immunodeficiency 百科内容 → 1305 Hutchinson-Gilford progeria syndromeHutchinson-Gilford progeria syndrome 百科内容 → 1306 Childhood absence epilepsyChildhood absence epilepsy 百科内容 → 1307 Weill-Marchesani syndromeWeill-Marchesani syndrome 百科内容 → 1308 AnencephalyAnencephaly 百科内容 → 1309 Hailey-Hailey diseaseHailey-Hailey disease 百科内容 → 1310 OtulipeniaOtulipenia 百科内容 → 1311 Lissencephaly with cerebellar hypoplasiaLissencephaly with cerebellar hypoplasia 百科内容 → 1312 Pseudohypoaldosteronism type 2Pseudohypoaldosteronism type 2 百科内容 → 1313 Tietz syndromeTietz syndrome 百科内容 → 1314 Hartnup diseaseHartnup disease 百科内容 → 1315 Sepiapterin reductase deficiencySepiapterin reductase deficiency 百科内容 → 1316 CLN7 diseaseCLN7 disease 百科内容 → 1317 X-linked infantile spinal muscular atrophyX-linked infantile spinal muscular atrophy 百科内容 → 1318 Marinesco-Sjögren syndromeMarinesco-Sjögren syndrome 百科内容 → 1319 Ohdo syndrome, Maat-Kievit-Brunner typeOhdo syndrome, Maat-Kievit-Brunner type 百科内容 → 1320 Kuskokwim syndromeKuskokwim syndrome 百科内容 → 1321 Miyoshi myopathyMiyoshi myopathy 百科内容 → 1322 Smith-Lemli-Opitz syndromeSmith-Lemli-Opitz syndrome 百科内容 → 1323 HomocystinuriaHomocystinuria 百科内容 → 1324 Lynch syndromeLynch syndrome 百科内容 → 1325 Microphthalmia with linear skin defects syndromeMicrophthalmia with linear skin defects syndrome 百科内容 → 1326 Proximal 18q deletion syndromeProximal 18q deletion syndrome 百科内容 → 1327 HypermethioninemiaHypermethioninemia 百科内容 → 1328 Diastrophic dysplasiaDiastrophic dysplasia 百科内容 → 1329 Familial HDL deficiencyFamilial HDL deficiency 百科内容 → 1330 Gitelman syndromeGitelman syndrome 百科内容 → 1331 Combined malonic and methylmalonic aciduriaCombined malonic and methylmalonic aciduria 百科内容 → 1332 Familial porencephalyFamilial porencephaly 百科内容 → 1333 X-linked infantile nystagmusX-linked infantile nystagmus 百科内容 → 1334 MECP2 duplication syndromeMECP2 duplication syndrome 百科内容 → 1335 Mucolipidosis III gammaMucolipidosis III gamma 百科内容 → 1336 Arts syndromeArts syndrome 百科内容 → 1337 Bare lymphocyte syndrome type IBare lymphocyte syndrome type I 百科内容 → 1338 Müllerian aplasia and hyperandrogenismMüllerian aplasia and hyperandrogenism 百科内容 → 1339 Fragile XE syndromeFragile XE syndrome 百科内容 → 1340 Medium-chain acyl-CoA dehydrogenase deficiencyMedium-chain acyl-CoA dehydrogenase deficiency 百科内容 → 1341 Björnstad syndromeBjörnstad syndrome 百科内容 → 1342 Succinyl-CoA:3-ketoacid CoA transferase deficiencySuccinyl-CoA:3-ketoacid CoA transferase deficiency 百科内容 → 1343 Meesmann corneal dystrophyMeesmann corneal dystrophy 百科内容 → 1344 White sponge nevusWhite sponge nevus 百科内容 → 1345 Childhood myocerebrohepatopathy spectrumChildhood myocerebrohepatopathy spectrum 百科内容 → 1346 Fabry diseaseFabry disease 百科内容 → 1347 3-methylcrotonyl-CoA carboxylase deficiency3-methylcrotonyl-CoA carboxylase deficiency 百科内容 → 1348 Congenital stromal corneal dystrophyCongenital stromal corneal dystrophy 百科内容 → 1349 3q29 microduplication syndrome3q29 microduplication syndrome 百科内容 → 1350 Recombinant 8 syndromeRecombinant 8 syndrome 百科内容 → 1351 Juvenile myoclonic epilepsyJuvenile myoclonic epilepsy 百科内容 → 1352 Tetrahydrobiopterin deficiencyTetrahydrobiopterin deficiency 百科内容 → 1353 Ring chromosome 20 syndromeRing chromosome 20 syndrome 百科内容 → 1354 SUCLA2-related mitochondrial DNA depletion syndromeSUCLA2-related mitochondrial DNA depletion syndrome 百科内容 → 1355 Central precocious pubertyCentral precocious puberty 百科内容 → 1356 Glycogen storage disease type VIGlycogen storage disease type VI 百科内容 → 1357 Short QT syndromeShort QT syndrome 百科内容 → 1358 Autosomal recessive hypotrichosisAutosomal recessive hypotrichosis 百科内容 → 1359 Li-Fraumeni syndromeLi-Fraumeni syndrome 百科内容 → 1360 Carnitine-acylcarnitine translocase deficiencyCarnitine-acylcarnitine translocase deficiency 百科内容 → 1361 Lamellar ichthyosisLamellar ichthyosis 百科内容 → 1362 Maternally inherited diabetes and deafnessMaternally inherited diabetes and deafness 百科内容 → 1363 Lesch-Nyhan syndromeLesch-Nyhan syndrome 百科内容 → 1364 Factor VII deficiencyFactor VII deficiency 百科内容 → 1365 Methemoglobinemia, beta-globin typeMethemoglobinemia, beta-globin type 百科内容 → 1366 Emanuel syndromeEmanuel syndrome 百科内容 → 1367 Peroxisomal acyl-CoA oxidase deficiencyPeroxisomal acyl-CoA oxidase deficiency 百科内容 → 1368 Congenital afibrinogenemiaCongenital afibrinogenemia 百科内容 → 1369 Carbamoyl phosphate synthetase I deficiencyCarbamoyl phosphate synthetase I deficiency 百科内容 → 1370 Peutz-Jeghers syndromePeutz-Jeghers syndrome 百科内容 → 1371 Atelosteogenesis type 1Atelosteogenesis type 1 百科内容 → 1372 Stargardt macular degenerationStargardt macular degeneration 百科内容 → 1373 Distal myopathy 2Distal myopathy 2 百科内容 → 1374 Beta-mannosidosisBeta-mannosidosis 百科内容 → 1375 Milroy diseaseMilroy disease 百科内容 → 1376 Cerebral folate transport deficiencyCerebral folate transport deficiency 百科内容 → 1377 Chylomicron retention diseaseChylomicron retention disease 百科内容 → 1378 Koolen-de Vries syndromeKoolen-de Vries syndrome 百科内容 → 1379 NGLY1-congenital disorder of deglycosylationNGLY1-congenital disorder of deglycosylation 百科内容 → 1380 Familial hypobetalipoproteinemiaFamilial hypobetalipoproteinemia 百科内容 → 1381 Biotinidase deficiencyBiotinidase deficiency 百科内容 → 1382 Léri-Weill dyschondrosteosisLéri-Weill dyschondrosteosis 百科内容 → 1383 Spondyloepiphyseal dysplasia with metatarsal shorteningSpondyloepiphyseal dysplasia with metatarsal shortening 百科内容 → 1384 Iron-refractory iron deficiency anemiaIron-refractory iron deficiency anemia 百科内容 → 1385 Norrie diseaseNorrie disease 百科内容 → 1386 Lattice corneal dystrophy type ILattice corneal dystrophy type I 百科内容 → 1387 DOLK-congenital disorder of glycosylationDOLK-congenital disorder of glycosylation 百科内容 → 1388 Glucose-galactose malabsorptionGlucose-galactose malabsorption 百科内容 → 1389 Fuchs endothelial dystrophyFuchs endothelial dystrophy 百科内容 → 1390 Myoclonus-dystoniaMyoclonus-dystonia 百科内容 → 1391 Mannose-binding lectin deficiencyMannose-binding lectin deficiency 百科内容 → 1392 15q24 microdeletion15q24 microdeletion 百科内容 → 1393 Beta-ureidopropionase deficiencyBeta-ureidopropionase deficiency 百科内容 → 1394 MacrozoospermiaMacrozoospermia 百科内容 → 1395 Corticosteroid-binding globulin deficiencyCorticosteroid-binding globulin deficiency 百科内容 → 1396 Ghosal hematodiaphyseal dysplasiaGhosal hematodiaphyseal dysplasia 百科内容 → 1397 Legius syndromeLegius syndrome 百科内容 → 1398 Hereditary xanthinuriaHereditary xanthinuria 百科内容 → 1399 Thanatophoric dysplasiaThanatophoric dysplasia 百科内容 → 1400 Alport syndromeAlport syndrome 百科内容 → 1401 MDA5 deficiencyMDA5 deficiency 百科内容 → 1402 Congenital bilateral absence of the vas deferensCongenital bilateral absence of the vas deferens 百科内容 → 1403 NeuroferritinopathyNeuroferritinopathy 百科内容 → 1404 Supravalvular aortic stenosisSupravalvular aortic stenosis 百科内容 → 1405 46,XX testicular difference of sex development46,XX testicular difference of sex development 百科内容 → 1406 Dubin-Johnson syndromeDubin-Johnson syndrome 百科内容 → 1407 Amish lethal microcephalyAmish lethal microcephaly 百科内容 → 1408 Chanarin-Dorfman syndromeChanarin-Dorfman syndrome 百科内容 → 1409 Meige diseaseMeige disease 百科内容 → 1410 Pyle diseasePyle disease 百科内容 → 1411 Eosinophil peroxidase deficiencyEosinophil peroxidase deficiency 百科内容 → 1412 Birt-Hogg-Dubé syndromeBirt-Hogg-Dubé syndrome 百科内容 → 1413 Menkes syndromeMenkes syndrome 百科内容 → 1414 Spinal and bulbar muscular atrophySpinal and bulbar muscular atrophy 百科内容 → 1415 Crouzon syndromeCrouzon syndrome 百科内容 → 1416 Jackson-Weiss syndromeJackson-Weiss syndrome 百科内容 → 1417 Ellis-van Creveld syndromeEllis-van Creveld syndrome 百科内容 → 1418 Ethylmalonic encephalopathyEthylmalonic encephalopathy 百科内容 → 1419 X-linked creatine deficiencyX-linked creatine deficiency 百科内容 → 1420 Hystrix-like ichthyosis with deafnessHystrix-like ichthyosis with deafness 百科内容 → 1421 Allan-Herndon-Dudley syndromeAllan-Herndon-Dudley syndrome 百科内容 → 1422 Fumarase deficiencyFumarase deficiency 百科内容 → 1423 Guanidinoacetate methyltransferase deficiencyGuanidinoacetate methyltransferase deficiency 百科内容 → 1424 Methylmalonic acidemiaMethylmalonic acidemia 百科内容 → 1425 Factor X deficiencyFactor X deficiency 百科内容 → 1426 Complete plasminogen activator inhibitor 1 deficiencyComplete plasminogen activator inhibitor 1 deficiency 百科内容 → 1427 Alström syndromeAlström syndrome 百科内容 → 1428 Adenosine monophosphate deaminase deficiencyAdenosine monophosphate deaminase deficiency 百科内容 → 1429 Bart-Pumphrey syndromeBart-Pumphrey syndrome 百科内容 → 1430 Hypochromic microcytic anemia with iron overloadHypochromic microcytic anemia with iron overload 百科内容 → 1431 Van der Woude syndromeVan der Woude syndrome 百科内容 → 1432 Prekallikrein deficiencyPrekallikrein deficiency 百科内容 → 1433 CAV3-related distal myopathyCAV3-related distal myopathy 百科内容 → 1434 Weyers acrofacial dysostosisWeyers acrofacial dysostosis 百科内容 → 1435 Glutamate formiminotransferase deficiencyGlutamate formiminotransferase deficiency 百科内容 → 1436 Succinic semialdehyde dehydrogenase deficiencySuccinic semialdehyde dehydrogenase deficiency 百科内容 → 1437 Ichthyosis with confettiIchthyosis with confetti 百科内容 → 1438 BunionBunion 百科内容 → 1439 Pallister-Hall syndromePallister-Hall syndrome 百科内容 → 1440 Potassium-aggravated myotoniaPotassium-aggravated myotonia 百科内容 → 1441 Congenital deafness with labyrinthine aplasia, microtia, and microdontiaCongenital deafness with labyrinthine aplasia, microtia, and microdontia 百科内容 → 1442 SADDANSADDAN 百科内容 → 1443 Arrhythmogenic right ventricular cardiomyopathyArrhythmogenic right ventricular cardiomyopathy 百科内容 → 1444 Dentatorubral-pallidoluysian atrophyDentatorubral-pallidoluysian atrophy 百科内容 → 1445 Greenberg dysplasiaGreenberg dysplasia 百科内容 → 1446 PDGFRB-associated chronic eosinophilic leukemiaPDGFRB-associated chronic eosinophilic leukemia 百科内容 → 1447 Familial erythrocytosisFamilial erythrocytosis 百科内容 → 1448 Aldosterone-producing adenomaAldosterone-producing adenoma 百科内容 → 1449 SYNGAP1-related intellectual disabilitySYNGAP1-related intellectual disability 百科内容 → 1450 Holocarboxylase synthetase deficiencyHolocarboxylase synthetase deficiency 百科内容 → 1451 GABA-transaminase deficiencyGABA-transaminase deficiency 百科内容 → 1452 Hereditary sensory and autonomic neuropathy type VHereditary sensory and autonomic neuropathy type V 百科内容 → 1453 CystinuriaCystinuria 百科内容 → 1454 X-linked intellectual disability, Siderius typeX-linked intellectual disability, Siderius type 百科内容 → 1455 Ataxia with vitamin E deficiencyAtaxia with vitamin E deficiency 百科内容 → 1456 Congenital leptin deficiencyCongenital leptin deficiency 百科内容 → 1457 Atelosteogenesis type 2Atelosteogenesis type 2 百科内容 → 1458 Rotor syndromeRotor syndrome 百科内容 → 1459 Maple syrup urine diseaseMaple syrup urine disease 百科内容 → 1460 Multiple cutaneous and mucosal venous malformationsMultiple cutaneous and mucosal venous malformations 百科内容 → 1461 Brody myopathyBrody myopathy 百科内容 → 1462 JAK3-deficient severe combined immunodeficiencyJAK3-deficient severe combined immunodeficiency 百科内容 → 1463 Deafness and myopia syndromeDeafness and myopia syndrome 百科内容 → 1464 Alpha-methylacyl-CoA racemase deficiencyAlpha-methylacyl-CoA racemase deficiency 百科内容 → 1465 Stormorken syndromeStormorken syndrome 百科内容 → 1466 Y chromosome infertilityY chromosome infertility 百科内容 → 1467 Christianson syndromeChristianson syndrome 百科内容 → 1468 PPP2R5D-related intellectual disabilityPPP2R5D-related intellectual disability 百科内容 → 1469 Phosphoglycerate mutase deficiencyPhosphoglycerate mutase deficiency 百科内容 → 1470 ChoroideremiaChoroideremia 百科内容 → 1471 Grange syndromeGrange syndrome 百科内容 → 1472 Liddle syndromeLiddle syndrome 百科内容 → 1473 Beta-ketothiolase deficiencyBeta-ketothiolase deficiency 百科内容 → 1474 Leptin receptor deficiencyLeptin receptor deficiency 百科内容 → 1475 Vibratory urticariaVibratory urticaria 百科内容 → 1476 Trisomy 18Trisomy 18 百科内容 → 1477 Trisomy XTrisomy X 百科内容 → 1478 Distal arthrogryposis type 1Distal arthrogryposis type 1 百科内容 → 1479 Mal de MeledaMal de Meleda 百科内容 → 1480 Autosomal recessive cerebellar ataxia type 1Autosomal recessive cerebellar ataxia type 1 百科内容 → 1481 Langer mesomelic dysplasiaLanger mesomelic dysplasia 百科内容 → 1482 Autosomal recessive congenital stationary night blindnessAutosomal recessive congenital stationary night blindness 百科内容 → 1483 Aromatase excess syndromeAromatase excess syndrome 百科内容 → 1484 Progressive osseous heteroplasiaProgressive osseous heteroplasia 百科内容 → 1485 Townes-Brocks SyndromeTownes-Brocks Syndrome 百科内容 → 1486 Catecholaminergic polymorphic ventricular tachycardiaCatecholaminergic polymorphic ventricular tachycardia 百科内容 → 1487 Dystonia 6Dystonia 6 百科内容 → 1488 Uncombable hair syndromeUncombable hair syndrome 百科内容 → 1489 Factor V deficiencyFactor V deficiency 百科内容 → 1490 Complement factor I deficiencyComplement factor I deficiency 百科内容 → 1491 Bernard-Soulier syndromeBernard-Soulier syndrome 百科内容 → 1492 Familial atrial fibrillationFamilial atrial fibrillation 百科内容 → 1493 Autosomal dominant congenital stationary night blindnessAutosomal dominant congenital stationary night blindness 百科内容 → 1494 Prothrombin deficiencyProthrombin deficiency 百科内容 → 1495 Trisomy 13Trisomy 13 百科内容 → 1496 Greig cephalopolysyndactyly syndromeGreig cephalopolysyndactyly syndrome 百科内容 → 1497 Juvenile primary lateral sclerosisJuvenile primary lateral sclerosis 百科内容 → 1498 UV-sensitive syndromeUV-sensitive syndrome 百科内容 → 1499 Aminoacylase 1 deficiencyAminoacylase 1 deficiency 百科内容 → 1500 Spinocerebellar ataxia type 6Spinocerebellar ataxia type 6 百科内容 → 1501 Familial male-limited precocious pubertyFamilial male-limited precocious puberty 百科内容 → 1502 Glycoprotein VI deficiencyGlycoprotein VI deficiency 百科内容 → 1503 PPM-X syndromePPM-X syndrome 百科内容 → 1504 Spondyloperipheral dysplasiaSpondyloperipheral dysplasia 百科内容 → 1505 Juvenile primary osteoporosisJuvenile primary osteoporosis 百科内容 → 1506 Arginine:glycine amidinotransferase deficiencyArginine:glycine amidinotransferase deficiency 百科内容 → 1507 HistidinemiaHistidinemia 百科内容 → 1508 Steatocystoma multiplexSteatocystoma multiplex 百科内容 → 1509 Cri-du-chat syndromeCri-du-chat syndrome 百科内容 → 1510 Fish-eye diseaseFish-eye disease 百科内容 → 1511 Peeling skin syndrome 2Peeling skin syndrome 2 百科内容 → 1512 Microcephaly, seizures, and developmental delayMicrocephaly, seizures, and developmental delay 百科内容 → 1513 Nonsyndromic congenital nail disorder 10Nonsyndromic congenital nail disorder 10 百科内容 → 1514 TrimethylaminuriaTrimethylaminuria 百科内容 → 1515 Neutral lipid storage disease with myopathyNeutral lipid storage disease with myopathy 百科内容 → 1516 Warsaw breakage syndromeWarsaw breakage syndrome 百科内容 → 1517 Anonychia congenitaAnonychia congenita 百科内容 → 1518 Palmoplantar keratoderma with deafnessPalmoplantar keratoderma with deafness 百科内容 → 1519 Cole diseaseCole disease 百科内容 → 1520 Isolated hyperCKemiaIsolated hyperCKemia 百科内容 → 1521 X-linked severe combined immunodeficiencyX-linked severe combined immunodeficiency 百科内容 → 1522 Platyspondylic dysplasia, Torrance typePlatyspondylic dysplasia, Torrance type 百科内容 → 1523 GlobozoospermiaGlobozoospermia 百科内容 → 1524 Malonyl-CoA decarboxylase deficiencyMalonyl-CoA decarboxylase deficiency 百科内容 → 1525 Deafness-infertility syndromeDeafness-infertility syndrome 百科内容 → 1526 North American Indian childhood cirrhosisNorth American Indian childhood cirrhosis 百科内容 → 1527 22q11.2 duplication22q11.2 duplication 百科内容 → 1528 动脉瘤Aneurysms 百科内容 → 1529 动静脉畸形Arteriovenous Malformations 百科内容 → 1530 颈动脉疾病Carotid Artery Disease 百科内容 → 1531 心内膜炎Endocarditis 百科内容 → 1532 心包疾病Pericardial Disorders 百科内容 → 1533 休克Shock 百科内容 → 1534 血管疾病Vascular Diseases 百科内容 → 1535 血栓Blood Clots 百科内容 → 1536 艾迪生病Addison Disease 百科内容 → 1537 肾上腺疾病Adrenal Gland Disorders 百科内容 → 1538 尿崩症Diabetes Insipidus 百科内容 → 1539 高血糖Hyperglycemia 百科内容 → 1540 嗜铬细胞瘤Pheochromocytoma 百科内容 → 1541 垂体疾病Pituitary Disorders 百科内容 → 1542 垂体肿瘤Pituitary Tumors 百科内容 → 1543 呼吸问题Breathing Problems 百科内容 → 1544 吸入性损伤Inhalation Injuries 百科内容 → 1545 呼吸衰竭Respiratory Failure 百科内容 → 1546 气管疾病Tracheal Disorders 百科内容 → 1547 腹腔粘连Adhesions 百科内容 → 1548 肛门疾病Anal Disorders 百科内容 → 1549 大便失禁Bowel Incontinence 百科内容 → 1550 结肠息肉Colonic Polyps 百科内容 → 1551 嗜酸性粒细胞性食管炎Eosinophilic Esophagitis 百科内容 → 1552 食管疾病Esophagus Disorders 百科内容 → 1553 瘘Fistulas 百科内容 → 1554 消化道出血Gastrointestinal Bleeding 百科内容 → 1555 麸质敏感Gluten Sensitivity 百科内容 → 1556 食管裂孔疝Hiatal Hernia 百科内容 → 1557 肠梗阻Intestinal Obstruction 百科内容 → 1558 吸收不良综合征Malabsorption Syndromes 百科内容 → 1559 胆管疾病Bile Duct Diseases 百科内容 → 1560 胆囊疾病Gallbladder Diseases 百科内容 → 1561 胰腺疾病Pancreatic Diseases 百科内容 → 1562 膀胱疾病Bladder Diseases 百科内容 → 1563 肾衰竭Kidney Failure 百科内容 → 1564 输尿管疾病Ureteral Disorders 百科内容 → 1565 尿道疾病Urethral Disorders 百科内容 → 1566 听神经瘤Acoustic Neuroma 百科内容 → 1567 急性弛缓性脊髓炎Acute Flaccid Myelitis 百科内容 → 1568 失语症Aphasia 百科内容 → 1569 臂丛神经损伤Brachial Plexus Injuries 百科内容 → 1570 Chiari 畸形Chiari Malformation 百科内容 → 1571 昏迷Coma 百科内容 → 1572 痴呆Dementia 百科内容 → 1573 头晕与眩晕Dizziness and Vertigo 百科内容 → 1574 肌张力障碍Dystonia 百科内容 → 1575 脑炎Encephalitis 百科内容 → 1576 轻度认知障碍Mild Cognitive Impairment 百科内容 → 1577 运动障碍Movement Disorders 百科内容 → 1578 瘫痪Paralysis 百科内容 → 1579 癫痫发作Seizures 百科内容 → 1580 脊髓损伤Spinal Cord Injuries 百科内容 → 1581 创伤性脑损伤Traumatic Brain Injury 百科内容 → 1582 赌博障碍Compulsive Gambling 百科内容 → 1583 学习障碍Learning Disabilities 百科内容 → 1584 心境障碍Mood Disorders 百科内容 → 1585 恐惧症Phobias 百科内容 → 1586 精神病性障碍Psychotic Disorders 百科内容 → 1587 自伤Self-Harm 百科内容 → 1588 关节炎Arthritis 百科内容 → 1589 骨病Bone Diseases 百科内容 → 1590 骨感染Bone Infections 百科内容 → 1591 软骨疾病Cartilage Disorders 百科内容 → 1592 椎间盘突出Herniated Disk 百科内容 → 1593 感染性关节炎Infectious Arthritis 百科内容 → 1594 关节疾病Joint Disorders 百科内容 → 1595 肌炎Myositis 百科内容 → 1596 骨坏死Osteonecrosis 百科内容 → 1597 佝偻病Rickets 百科内容 → 1598 踝关节损伤与疾病Ankle Injuries and Disorders 百科内容 → 1599 背部损伤Back Injuries 百科内容 → 1600 足部损伤与疾病Foot Injuries and Disorders 百科内容 → 1601 膝关节损伤与疾病Knee Injuries and Disorders 百科内容 → 1602 扭伤与拉伤Sprains and Strains 百科内容 → 1603 肌腱炎Tendinitis 百科内容 → 1604 腕部损伤与疾病Wrist Injuries and Disorders 百科内容 → 1605 足癣（脚气）Athlete's Foot 百科内容 → 1606 胎记Birthmarks 百科内容 → 1607 水疱Blisters 百科内容 → 1608 鸡眼与胼胝Corns and Calluses 百科内容 → 1609 脱发Hair Loss 百科内容 → 1610 瘙痒Itching 百科内容 → 1611 压力性损伤Pressure Sores 百科内容 → 1612 皮肤感染Skin Infections 百科内容 → 1613 癣菌感染Tinea Infections 百科内容 → 1614 疣Warts 百科内容 → 1615 禽流感Bird Flu 百科内容 → 1616 艰难梭菌感染C. diff Infections 百科内容 → 1617 弯曲菌感染Campylobacter Infections 百科内容 → 1618 基孔肯雅热Chikungunya 百科内容 → 1619 巨细胞病毒感染Cytomegalovirus Infections 百科内容 → 1620 大肠杆菌感染E. coli Infections 百科内容 → 1621 埃博拉病毒病Ebola 百科内容 → 1622 贾第虫感染Giardia Infections 百科内容 → 1623 淋病Gonorrhea 百科内容 → 1624 甲型 H1N1 流感H1N1 Flu (Swine Flu) 百科内容 → 1625 李斯特菌感染Listeria Infections 百科内容 → 1626 疟疾Malaria 百科内容 → 1627 脑膜炎Meningitis 百科内容 → 1628 耐甲氧西林金黄色葡萄球菌感染MRSA 百科内容 → 1629 诺如病毒感染Norovirus Infections 百科内容 → 1630 肺孢子菌感染Pneumocystis Infections 百科内容 → 1631 轮状病毒感染Rotavirus Infections 百科内容 → 1632 沙门菌感染Salmonella Infections 百科内容 → 1633 球孢子菌病Valley Fever 百科内容 → 1634 西尼罗病毒感染West Nile Virus 百科内容 → 1635 念珠菌感染Yeast Infections 百科内容 → 1636 寨卡病毒感染Zika Virus 百科内容 → 1637 宫颈疾病Cervix Disorders 百科内容 → 1638 卵巢疾病Ovarian Disorders 百科内容 → 1639 盆底疾病Pelvic Floor Disorders 百科内容 → 1640 子宫疾病Uterine Diseases 百科内容 → 1641 阴道疾病Vaginal Diseases 百科内容 → 1642 阴茎疾病Penis Disorders 百科内容 → 1643 前列腺疾病Prostate Diseases 百科内容 → 1644 睾丸疾病Testicular Disorders 百科内容 → 1645 急性淋巴细胞白血病Acute Lymphocytic Leukemia 百科内容 → 1646 急性髓系白血病Acute Myeloid Leukemia 百科内容 → 1647 肾上腺癌Adrenal Gland Cancer 百科内容 → 1648 肛门癌Anal Cancer 百科内容 → 1649 脑肿瘤Brain Tumors 百科内容 → 1650 类癌肿瘤Carcinoid Tumors 百科内容 → 1651 慢性淋巴细胞白血病Chronic Lymphocytic Leukemia 百科内容 → 1652 胆囊癌Gallbladder Cancer 百科内容 → 1653 小肠癌Intestinal Cancer 百科内容 → 1654 卡波西肉瘤Kaposi Sarcoma 百科内容 → 1655 间皮瘤Mesothelioma 百科内容 → 1656 口腔癌Oral Cancer 百科内容 → 1657 皮肤癌Skin Cancer 百科内容 → 1658 软组织肉瘤Soft Tissue Sarcoma 百科内容 → 1659 睾丸癌Testicular Cancer 百科内容 → 1660 胸腺癌Thymus Cancer 百科内容 → 1661 阴道癌Vaginal Cancer 百科内容 → 1662 外阴癌Vulvar Cancer 百科内容 → 1663 弱视Amblyopia 百科内容 → 1664 角膜疾病Corneal Disorders 百科内容 → 1665 眼部感染Eye Infections 百科内容 → 1666 眼外伤Eye Injuries 百科内容 → 1667 眼球运动障碍Eye Movement Disorders 百科内容 → 1668 视神经疾病Optic Nerve Disorders 百科内容 → 1669 视网膜疾病Retinal Disorders 百科内容 → 1670 口臭Bad Breath 百科内容 → 1671 平衡障碍Balance Problems 百科内容 → 1672 气压伤Barotrauma 百科内容 → 1673 耳部疾病Ear Disorders 百科内容 → 1674 口腔疾病Mouth Disorders 百科内容 → 1675 鼻腔癌Nasal Cancer 百科内容 → 1676 唾液腺疾病Salivary Gland Disorders 百科内容 → 1677 味觉与嗅觉障碍Taste and Smell Disorders 百科内容 → 1678 咽喉疾病Throat Disorders 百科内容 → 1679 牙齿疾病Tooth Disorders 百科内容 → 1680 声音障碍Voice Disorders 百科内容 → 1681 自身免疫性疾病Autoimmune Diseases 百科内容 → 1682 出血性疾病Bleeding Disorders 百科内容 → 1683 骨髓疾病Bone Marrow Diseases 百科内容 → 1684 嗜酸性粒细胞疾病Eosinophilic Disorders 百科内容 → 1685 乳胶过敏Latex Allergy 百科内容 → 1686 淋巴系统疾病Lymphatic Diseases 百科内容 → 1687 淋巴水肿Lymphedema 百科内容 → 1688 血小板疾病Platelet Disorders 百科内容 → 1689 脾脏疾病Spleen Diseases 百科内容 →