Health A-Z

01 Hypertension高血压 Guide→ 02 Hypertensive Heart Disease高血压心脏病 Guide→ 03 Coronary Artery Disease冠状动脉疾病 Guide→ 04 Angina心绞痛 Guide→ 05 Heart Attack / Myocardial Infarction心肌梗死 Guide→ 06 Arrhythmia心律失常 Guide→ 07 Atrial Fibrillation心房颤动 Guide→ 08 Heart Failure心力衰竭 Guide→ 09 Atherosclerosis动脉粥样硬化 Guide→ 10 Peripheral Artery Disease外周动脉疾病 Guide→ 11 Deep Vein Thrombosis深静脉血栓 Guide→ 12 Common Cold普通感冒 Guide→ 13 Acute Pharyngitis急性咽炎 Guide→ 14 Acute Bronchitis急性支气管炎 Guide→ 15 Chronic bronchitis慢性支气管炎 Guide→ 16 COPD慢性阻塞性肺疾病 Guide→ 17 Asthma哮喘 Guide→ 18 Pneumonia肺炎 Guide→ 19 Interstitial Lung Diseases间质性肺疾病 Guide→ 20 Emphysema肺气肿 Guide→ 21 Bronchiectasis支气管扩张症 Guide→ 22 Pleurisy胸膜炎 Guide→ 23 GERD胃食管反流病 Guide→ 24 Peptic Ulcer Disease消化性溃疡 Guide→ 25 Irritable Bowel Syndrome肠易激综合征 Guide→ 26 Constipation便秘 Guide→ 27 MASLD代谢功能障碍相关脂肪性肝病 Guide→ 28 Gallstones胆结石 Guide→ 29 Cholecystitis胆囊炎 Guide→ 30 Hemorrhoids痔病 Guide→ 31 Type 2 diabetes2 型糖尿病 Guide→ 32 Type 1 Diabetes1 型糖尿病 Guide→ 33 Diabetic Retinopathy糖尿病视网膜病变 Guide→ 34 Hyperthyroidism甲状腺功能亢进症 Guide→ 35 Hypothyroidism甲状腺功能减退症 Guide→ 36 Gout痛风 Guide→ 37 High Cholesterol / Hyperlipidemia高胆固醇血症 Guide→ 38 Obesity肥胖症 Guide→ 39 Osteoporosis骨质疏松症 Guide→ 40 Urinary Tract Infection尿路感染 Guide→ 41 Transient Ischemic Attack短暂性脑缺血发作 Guide→ 42 Ischemic Stroke缺血性卒中 Guide→ 43 Hemorrhagic Stroke出血性卒中 Guide→ 44 Migraine偏头痛 Guide→ 45 Tension-Type Headache紧张型头痛 Guide→ 46 Trigeminal neuralgia三叉神经痛 Guide→ 47 Bell Palsy贝尔麻痹 Guide→ 48 Sciatica坐骨神经痛 Guide→ 49 Parkinson Disease帕金森病 Guide→ 50 Alzheimer Disease阿尔茨海默病 Guide→ 51 Epilepsy癫痫 Guide→ 52 Sleep Apnea睡眠呼吸暂停 Guide→ 53 Peripheral Neuropathy周围神经病变 Guide→ 54 Guillain-Barré syndrome Guide→ 55 Multiple Sclerosis多发性硬化 Guide→ 56 Myasthenia Gravis重症肌无力 Guide→ 57 Iron-Deficiency Anemia缺铁性贫血 Guide→ 58 Immune Thrombocytopenia免疫性血小板减少症 Guide→ 59 Hodgkin lymphoma霍奇金淋巴瘤 Guide→ 60 Rheumatoid Arthritis类风湿关节炎 Guide→ 61 Ankylosing Spondylitis强直性脊柱炎 Guide→ 62 Systemic Lupus Erythematosus系统性红斑狼疮 Guide→ 63 Sjogren Syndrome干燥综合征 Guide→ 64 Psoriatic Arthritis银屑病关节炎 Guide→ 65 Sepsis脓毒症 Guide→ 66 Anaphylaxis严重过敏反应 Guide→ 67 Appendicitis阑尾炎 Guide→ 68 Burns烧伤 Guide→ 69 Bruises瘀伤 Guide→ 70 Kidney Stones肾结石 Guide→ 71 Benign Prostatic Hyperplasia良性前列腺增生 Guide→ 72 Prostatitis前列腺炎 Guide→ 73 Varicocele精索静脉曲张 Guide→ 74 Varicose Veins静脉曲张 Guide→ 75 Cellulitis蜂窝织炎 Guide→ 76 Abscess脓肿 Guide→ 77 Thyroid Cancer甲状腺癌 Guide→ 78 Carpal Tunnel Syndrome腕管综合征 Guide→ 79 Tennis Elbow网球肘 Guide→ 80 Meniscus Injury半月板损伤 Guide→ 81 Dislocations关节脱位 Guide→ 82 Dislocated Shoulder肩关节脱位 Guide→ 83 Bursitis滑囊炎 Guide→ 84 Vaginitis阴道炎 Guide→ 85 Pelvic Inflammatory Disease盆腔炎 Guide→ 86 Uterine Fibroids子宫肌瘤 Guide→ 87 Ovarian Cysts卵巢囊肿 Guide→ 88 PCOS多囊卵巢综合征 Guide→ 89 Adenomyosis子宫腺肌病 Guide→ 90 Perimenopause and Menopause围绝经期与绝经 Guide→ 91 Ectopic Pregnancy异位妊娠 Guide→ 92 Primary Ovarian Insufficiency原发性卵巢功能不全 Guide→ 93 Endometriosis子宫内膜异位症 Guide→ 94 Hand, Foot and Mouth Disease手足口病 Guide→ 95 Urticaria荨麻疹 Guide→ 96 ADHD注意缺陷多动障碍 Guide→ 97 Kawasaki disease Guide→ 98 Febrile Seizures热性惊厥 Guide→ 99 Neonatal Jaundice新生儿黄疸 Guide→ 100 Cerebral Palsy脑性瘫痪 Guide→ 101 Dry Eye Disease干眼病 Guide→ 102 Conjunctivitis结膜炎 Guide→ 103 Chalazion睑板腺囊肿 Guide→ 104 Cataract白内障 Guide→ 105 Glaucoma青光眼 Guide→ 106 Presbyopia老视 Guide→ 107 Retinal Detachment视网膜脱离 Guide→ 108 Age-Related Macular Degeneration年龄相关性黄斑变性 Guide→ 109 Allergic Rhinitis过敏性鼻炎 Guide→ 110 Sinusitis鼻窦炎 Guide→ 111 Otitis Media中耳炎 Guide→ 112 Tinnitus耳鸣 Guide→ 113 BPPV良性阵发性位置性眩晕 Guide→ 114 Periodontitis牙周炎 Guide→ 115 Canker Sores口腔溃疡 Guide→ 116 Dental Caries龋齿 Guide→ 117 TMJ Disorders颞下颌关节紊乱 Guide→ 118 Contact Dermatitis接触性皮炎 Guide→ 119 Acne痤疮 Guide→ 120 Rosacea玫瑰痤疮 Guide→ 121 Shingles带状疱疹 Guide→ 122 Vitiligo白癜风 Guide→ 123 Psoriasis银屑病 Guide→ 124 Alopecia Areata斑秃 Guide→ 125 Scabies疥疮 Guide→ 126 Syphilis梅毒 Guide→ 127 Genital warts生殖器疣 Guide→ 128 Generalized Anxiety Disorder广泛性焦虑障碍 Guide→ 129 Major depressive disorder重性抑郁障碍 Guide→ 130 Obsessive-Compulsive Disorder强迫症 Guide→ 131 Panic Disorder惊恐障碍 Guide→ 132 Bipolar Disorder双相障碍 Guide→ 133 Schizophrenia精神分裂症 Guide→ 134 Anorexia Nervosa神经性厌食症 Guide→ 135 PTSD创伤后应激障碍 Guide→ 136 Personality Disorders人格障碍 Guide→ 137 Behçet disease Guide→ 138 Giant cell arteritis巨细胞动脉炎 Guide→ 139 Granulomatosis with polyangiitis肉芽肿性多血管炎 Guide→ 140 Systemic scleroderma Guide→ 141 Antiphospholipid syndrome Guide→ 142 Fibromyalgia纤维肌痛 Guide→ 143 Influenza流行性感冒 Guide→ 144 COVID-19 Guide→ 145 Chickenpox水痘 Guide→ 146 Mumps流行性腮腺炎 Guide→ 147 Helicobacter pylori Infections幽门螺杆菌感染 Guide→ 148 Hepatitis B乙型肝炎 Guide→ 149 Rubella风疹 Guide→ 150 Measles麻疹 Guide→ 151 Dengue登革热 Guide→ 152 Tuberculosis结核病 Guide→ 153 Lung Cancer肺癌 Guide→ 154 Stomach Cancer胃癌 Guide→ 155 Colorectal Cancer结直肠癌 Guide→ 156 Liver Cancer肝癌 Guide→ 157 Breast cancer乳腺癌 Guide→ 158 Cervical Cancer宫颈癌 Guide→ 159 Prostate Cancer前列腺癌 Guide→ 160 Esophageal Cancer食管癌 Guide→ 161 Ovarian Cancer卵巢癌 Guide→ 162 Pancreatic Cancer胰腺癌 Guide→ 163 Bladder cancer Guide→ 164 Kidney Cancer肾癌 Guide→ 165 Endometrial Cancer子宫内膜癌 Guide→ 166 Lymphoma淋巴瘤 Guide→ 167 Leukemia白血病 Guide→ 168 Multiple myeloma Guide→ 169 Acute Kidney Injury急性肾损伤 Guide→ 170 Fractures骨折 Guide→ 171 Sudden Cardiac Arrest心脏骤停 Guide→ 172 Heart Valve Disease心脏瓣膜病 Guide→ 173 Cardiomyopathy心肌病 Guide→ 174 Stroke脑卒中 Guide→ 175 Brain Aneurysm脑动脉瘤 Guide→ 176 Pulmonary Embolism肺栓塞 Guide→ 177 Aortic Aneurysm主动脉瘤 Guide→ 178 Raynaud Phenomenon雷诺现象 Guide→ 179 Orthostatic Hypotension体位性低血压 Guide→ 180 POTS体位性心动过速综合征 Guide→ 181 Prediabetes糖尿病前期 Guide→ 182 Gestational Diabetes妊娠期糖尿病 Guide→ 183 Metabolic Syndrome代谢综合征 Guide→ 184 Hashimoto Thyroiditis桥本甲状腺炎 Guide→ 185 Graves DiseaseGraves 病 Guide→ 186 Obstructive Sleep Apnea阻塞性睡眠呼吸暂停 Guide→ 187 Pulmonary Fibrosis肺纤维化 Guide→ 188 Pulmonary Hypertension肺动脉高压 Guide→ 189 Gastritis胃炎 Guide→ 190 Crohn Disease克罗恩病 Guide→ 191 Ulcerative Colitis溃疡性结肠炎 Guide→ 192 Celiac Disease乳糜泻 Guide→ 193 Diverticular Disease结肠憩室病 Guide→ 194 Gastroenteritis急性胃肠炎 Guide→ 195 Hepatitis C丙型肝炎 Guide→ 196 Cirrhosis肝硬化 Guide→ 197 Pancreatitis胰腺炎 Guide→ 198 Hemochromatosis遗传性血色病 Guide→ 199 Chronic Kidney Disease慢性肾病 Guide→ 200 Overactive Bladder膀胱过度活动症 Guide→ 201 Urinary Incontinence尿失禁 Guide→ 202 Interstitial Cystitis间质性膀胱炎/膀胱疼痛综合征 Guide→ 203 Essential Tremor特发性震颤 Guide→ 204 Autism Spectrum Disorder孤独症谱系障碍 Guide→ 205 Insomnia Disorder失眠障碍 Guide→ 206 Osteoarthritis骨关节炎 Guide→ 207 Low Back Pain下背痛 Guide→ 208 Frozen Shoulder冻结肩 Guide→ 209 Rotator Cuff Injury肩袖损伤 Guide→ 210 Plantar Fasciitis足底筋膜炎 Guide→ 211 Achilles Tendinopathy跟腱病 Guide→ 212 ACL Injury前交叉韧带损伤 Guide→ 213 Concussion脑震荡 Guide→ 214 CRPS复杂区域疼痛综合征 Guide→ 215 Atopic Dermatitis特应性皮炎 Guide→ 216 Fungal Skin Infection皮肤真菌感染 Guide→ 217 Long COVID长新冠 Guide→ 218 HIV/AIDSHIV 感染与艾滋病 Guide→ 219 HPV Infection人乳头瘤病毒感染 Guide→ 220 Herpes Simplex单纯疱疹病毒感染 Guide→ 221 Lyme Disease莱姆病 Guide→ 222 Infectious Mononucleosis传染性单核细胞增多症 Guide→ 223 Vulvodynia外阴痛 Guide→ 224 PMS经前综合征 Guide→ 225 PMDD经前烦躁障碍 Guide→ 226 Female Infertility女性不孕症 Guide→ 227 Male Infertility男性不育症 Guide→ 228 Erectile Dysfunction勃起功能障碍 Guide→ 229 Premature Ejaculation早泄 Guide→ 230 Male Hypogonadism男性性腺功能减退症 Guide→ 231 Peyronie Disease阴茎硬结症 Guide→ 232 Preeclampsia子痫前期 Guide→ 233 Postpartum Depression产后抑郁症 Guide→ 234 Melanoma黑色素瘤 Guide→ 235 Myopia近视 Guide→ 236 Keratoconus圆锥角膜 Guide→ 237 Uveitis葡萄膜炎 Guide→ 238 Hearing Loss听力损失 Guide→ 239 Tonsillitis扁桃体炎 Guide→ 240 Vitamin B12 Deficiency Anemia维生素 B12 缺乏性贫血 Guide→ 241 Sickle Cell Disease镰状细胞病 Guide→ 242 Thalassemia地中海贫血 Guide→ 243 Hemophilia血友病 Guide→ 244 Neutropenia中性粒细胞减少症 Guide→ 245 Food Allergy食物过敏 Guide→ 246 RSV Infection呼吸道合胞病毒感染 Guide→ 247 Croup哮吼 Guide→ 248 Congenital Heart Disease先天性心脏病 Guide→ 249 Adolescent Idiopathic Scoliosis青少年特发性脊柱侧弯 Guide→ 250 Nocturnal Enuresis儿童夜间遗尿 Guide→ 251 Developmental Dysplasia of the Hip发育性髋关节发育不良 Guide→ 252 Cholera霍乱 Guide→ 253 Progressive supranuclear palsy进行性核上性麻痹 Guide→ 254 Pemphigus天疱疮 Guide→ 255 Polymyalgia rheumatica风湿性多肌痛 Guide→ 256 Abortion流产 Guide→ 257 Hypothermia低体温 Guide→ 258 Botulism肉毒中毒 Guide→ 259 Mitral valve prolapse二尖瓣脱垂 Guide→ 260 Menopause绝经期 Guide→ 261 Spina bifida脊柱裂 Guide→ 262 Motion sickness晕动病 Guide→ 263 Cryptosporidiosis隐孢子虫病 Guide→ 264 Vasculitis血管炎 Guide→ 265 Delirium谵妄 Guide→ 266 Friedreich ataxia弗里德赖希共济失调 Guide→ 267 Scoliosis脊柱侧凸 Guide→ 268 Trichomoniasis毛滴虫病 Guide→ 269 Vitamin D deficiency维生素D缺乏 Guide→ 270 Tourette syndromeTourette综合征 Guide→ 271 Cystic fibrosis囊性纤维化 Guide→ 272 Spinal stenosis椎管狭窄 Guide→ 273 Phenylketonuria苯丙酮尿症 Guide→ 274 Leukodystrophies脑白质营养不良 Guide→ 275 Impetigo脓疱病 Guide→ 276 Hidradenitis suppurativa化脓性汗腺炎 Guide→ 277 Plague鼠疫 Guide→ 278 Anthrax炭疽 Guide→ 279 Sarcoidosis结节病 Guide→ 280 Cat-scratch disease猫抓病 Guide→ 281 Whooping cough百日咳 Guide→ 282 Tetanus破伤风 Guide→ 283 Diphtheria白喉 Guide→ 284 Legionnaires disease军团病 Guide→ 285 Meningococcal disease脑膜炎球菌病 Guide→ 286 Rabies狂犬病 Guide→ 287 Amyotrophic lateral sclerosis肌萎缩侧索硬化 Guide→ 288 Spinal muscular atrophy脊肌萎缩症 Guide→ 289 Smallpox天花 Guide→ 290 Mpox猴痘 Guide→ 291 Muscular dystrophy肌营养不良 Guide→ 292 Aspergillosis曲霉病 Guide→ 293 Histoplasmosis组织胞浆菌病 Guide→ 294 Chagas disease美洲锥虫病 Guide→ 295 Leishmaniasis利什曼病 Guide→ 296 Alpha-1-antitrypsin deficiencyα-1-抗胰蛋白酶缺乏 Guide→ 297 Toxoplasmosis弓形虫病 Guide→ 298 Osteogenesis imperfecta成骨不全 Guide→ 299 Lactose intolerance乳糖不耐受 Guide→ 300 Wilson diseaseWilson病 Guide→ 301 Dehydration脱水 Guide→ 302 Amyloidosis淀粉样变性 Guide→ 303 Hydrocephalus脑积水 Guide→ 304 Marfan syndrome马凡综合征 Guide→ 305 Ehlers-Danlos syndromeEhlers-Danlos综合征 Guide→ 306 Reye syndromeReye综合征 Guide→ 307 Tuberous sclerosis结节性硬化症 Guide→ 308 Usher syndromeUsher综合征 Guide→ 309 Turner syndromeTurner综合征 Guide→ 310 Klinefelter syndromeKlinefelter综合征 Guide→ 311 Prader-Willi syndromePrader-Willi综合征 Guide→ 312 Rett syndromeRett综合征 Guide→ 313 Xerostomia口干燥症 Guide→ 314 Astigmatism散光 Guide→ 315 Periodontal disease牙周病 Guide→ 316 Myhre syndrome Guide→ 317 Aicardi-Goutières syndrome Guide→ 318 Abdominal wall defect Guide→ 319 Pol III-related leukodystrophy Guide→ 320 15q11-q13 duplication syndrome Guide→ 321 Charcot-Marie-Tooth disease Guide→ 322 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy Guide→ 323 Multiminicore disease Guide→ 324 Epilepsy-aphasia spectrum Guide→ 325 Wolfram syndrome Guide→ 326 Primary ciliary dyskinesia Guide→ 327 Langerhans cell histiocytosis Guide→ 328 X-linked adrenoleukodystrophy Guide→ 329 Noonan syndrome Guide→ 330 Noonan syndrome with multiple lentigines Guide→ 331 Xeroderma pigmentosum Guide→ 332 Nonsyndromic holoprosencephaly Guide→ 333 Caudal regression syndrome Guide→ 334 Waldenström macroglobulinemia Guide→ 335 Focal dermal hypoplasia Guide→ 336 CHARGE syndrome Guide→ 337 Congenital generalized lipodystrophy Guide→ 338 TRNT1 deficiency Guide→ 339 TUBB4A-related leukodystrophy Guide→ 340 Ataxia with oculomotor apraxia Guide→ 341 Barth syndrome Guide→ 342 Carpenter syndrome Guide→ 343 Bohring-Opitz syndrome Guide→ 344 Juvenile idiopathic arthritis Guide→ 345 Nicolaides-Baraitser syndrome Guide→ 346 Brain-lung-thyroid syndrome Guide→ 347 Metachromatic leukodystrophy Guide→ 348 Mucopolysaccharidosis type II Guide→ 349 Hajdu-Cheney syndrome Guide→ 350 Dystrophic epidermolysis bullosa Guide→ 351 Leprosy Guide→ 352 Collagen VI-related dystrophy Guide→ 353 McCune-Albright syndrome Guide→ 354 RAB18 deficiency Guide→ 355 Dandy-Walker malformation Guide→ 356 Klippel-Feil syndrome Guide→ 357 Septo-optic dysplasia Guide→ 358 Transthyretin amyloidosis Guide→ 359 Dyskeratosis congenita Guide→ 360 Beta-propeller protein-associated neurodegeneration Guide→ 361 Costello syndrome Guide→ 362 Shwachman-Diamond syndrome Guide→ 363 Freeman-Sheldon syndrome Guide→ 364 48,XXYY syndrome Guide→ 365 Hereditary paraganglioma-pheochromocytoma Guide→ 366 PLCG2-associated antibody deficiency and immune dysregulation Guide→ 367 Lysosomal acid lipase deficiency Guide→ 368 Sturge-Weber syndrome Guide→ 369 Familial thoracic aortic aneurysm and dissection Guide→ 370 Sialidosis Guide→ 371 17 alpha-hydroxylase/17,20-lyase deficiency Guide→ 372 Carnitine palmitoyltransferase II deficiency Guide→ 373 22q11.2 deletion syndrome Guide→ 374 Chronic granulomatous disease Guide→ 375 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome Guide→ 376 Alcohol use disorder Guide→ 377 Glycogen storage disease type IV Guide→ 378 Cutis laxa Guide→ 379 Maturity-onset diabetes of the young Guide→ 380 Loeys-Dietz syndrome Guide→ 381 Hennekam syndrome Guide→ 382 Epidermolysis bullosa simplex Guide→ 383 Carney complex Guide→ 384 Familial adenomatous polyposis Guide→ 385 Dupuytren contracture Guide→ 386 Neuromyelitis optica Guide→ 387 Histiocytosis-lymphadenopathy plus syndrome Guide→ 388 Lipoid proteinosis Guide→ 389 Mucopolysaccharidosis type III Guide→ 390 Spastic paraplegia type 49 Guide→ 391 Cyclic vomiting syndrome Guide→ 392 Central core disease Guide→ 393 Porphyria Guide→ 394 Cartilage-hair hypoplasia Guide→ 395 Osteopetrosis Guide→ 396 Giant congenital melanocytic nevus Guide→ 397 Poikiloderma with neutropenia Guide→ 398 Mevalonate kinase deficiency Guide→ 399 Mucopolysaccharidosis type I Guide→ 400 GM1 gangliosidosis Guide→ 401 Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome Guide→ 402 49,XXXXY syndrome Guide→ 403 Heterotaxy syndrome Guide→ 404 Woodhouse-Sakati syndrome Guide→ 405 Bannayan-Riley-Ruvalcaba syndrome Guide→ 406 Trichothiodystrophy Guide→ 407 Pallister-Killian mosaic syndrome Guide→ 408 Hypermanganesemia with dystonia Guide→ 409 Lacrimo-auriculo-dento-digital syndrome Guide→ 410 Hereditary neuralgic amyotrophy Guide→ 411 Pitt-Hopkins syndrome Guide→ 412 Combined pituitary hormone deficiency Guide→ 413 Hereditary cerebral amyloid angiopathy Guide→ 414 Down syndrome Guide→ 415 Tyrosine hydroxylase deficiency Guide→ 416 Lennox-Gastaut syndrome Guide→ 417 Pontocerebellar hypoplasia Guide→ 418 Zellweger spectrum disorder Guide→ 419 Osteoglophonic dysplasia Guide→ 420 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Guide→ 421 Vici syndrome Guide→ 422 Glycogen storage disease type I Guide→ 423 Mitochondrial complex V deficiency Guide→ 424 SLC4A1-associated distal renal tubular acidosis Guide→ 425 Pearson syndrome Guide→ 426 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Guide→ 427 Dyserythropoietic anemia and thrombocytopenia Guide→ 428 Methylmalonic acidemia with homocystinuria Guide→ 429 DOORS syndrome Guide→ 430 Arterial tortuosity syndrome Guide→ 431 Juvenile polyposis syndrome Guide→ 432 Paroxysmal nocturnal hemoglobinuria Guide→ 433 Leigh syndrome Guide→ 434 Diamond-Blackfan anemia Guide→ 435 Parathyroid cancer Guide→ 436 Spondyloepiphyseal dysplasia congenita Guide→ 437 Blau syndrome Guide→ 438 Familial partial lipodystrophy Guide→ 439 Amelogenesis imperfecta Guide→ 440 CDKL5 deficiency disorder Guide→ 441 Citrullinemia Guide→ 442 Familial isolated pituitary adenoma Guide→ 443 Oral-facial-digital syndrome Guide→ 444 Schinzel-Giedion syndrome Guide→ 445 Task-specific focal dystonia Guide→ 446 Hereditary pancreatitis Guide→ 447 Williams syndrome Guide→ 448 Cowden syndrome Guide→ 449 CASK-related intellectual disability Guide→ 450 Primary coenzyme Q10 deficiency Guide→ 451 Deoxyguanosine kinase deficiency Guide→ 452 Familial candidiasis Guide→ 453 Wolff-Parkinson-White syndrome Guide→ 454 Congenital dyserythropoietic anemia Guide→ 455 9q22.3 microdeletion Guide→ 456 Seasonal affective disorder Guide→ 457 Lattice corneal dystrophy type II Guide→ 458 Genetic epilepsy with febrile seizures plus Guide→ 459 Systemic mastocytosis Guide→ 460 Multiple pterygium syndrome Guide→ 461 Danon disease Guide→ 462 Isolated sulfite oxidase deficiency Guide→ 463 Opitz G/BBB syndrome Guide→ 464 Fanconi anemia Guide→ 465 DICER1 syndrome Guide→ 466 Peters plus syndrome Guide→ 467 Poland syndrome Guide→ 468 Primary sclerosing cholangitis Guide→ 469 Hyaline fibromatosis syndrome Guide→ 470 Mainzer-Saldino syndrome Guide→ 471 Progressive familial heart block Guide→ 472 Apert syndrome Guide→ 473 Nijmegen breakage syndrome Guide→ 474 African iron overload Guide→ 475 Cleidocranial dysplasia Guide→ 476 Epidermal nevus Guide→ 477 Facioscapulohumeral muscular dystrophy Guide→ 478 Kaufman oculocerebrofacial syndrome Guide→ 479 Netherton syndrome Guide→ 480 Joubert syndrome Guide→ 481 Megalencephalic leukoencephalopathy with subcortical cysts Guide→ 482 Hartsfield syndrome Guide→ 483 Alpha-N-acetylgalactosaminidase deficiency Guide→ 484 Cerebrotendinous xanthomatosis Guide→ 485 Campomelic dysplasia Guide→ 486 Cytochrome P450 oxidoreductase deficiency Guide→ 487 Mycosis fungoides Guide→ 488 Fraser syndrome Guide→ 489 Branchio-oculo-facial syndrome Guide→ 490 Congenital central hypoventilation syndrome Guide→ 491 Megalencephaly-capillary malformation syndrome Guide→ 492 Junctional epidermolysis bullosa Guide→ 493 Niemann-Pick disease Guide→ 494 Cystinosis Guide→ 495 Triple A syndrome Guide→ 496 Stickler syndrome Guide→ 497 Mabry syndrome Guide→ 498 BAP1 tumor predisposition syndrome Guide→ 499 PMM2-congenital disorder of glycosylation Guide→ 500 Timothy syndrome Guide→ 501 Hereditary hemorrhagic telangiectasia Guide→ 502 Esophageal atresia/tracheoesophageal fistula Guide→ 503 Familial lipoprotein lipase deficiency Guide→ 504 Lateral meningocele syndrome Guide→ 505 Cardiofaciocutaneous syndrome Guide→ 506 Pelizaeus-Merzbacher disease Guide→ 507 WAGR syndrome Guide→ 508 Mucopolysaccharidosis type VI Guide→ 509 L1 syndrome Guide→ 510 Mosaic variegated aneuploidy syndrome Guide→ 511 Distal 18q deletion syndrome Guide→ 512 Critical congenital heart disease Guide→ 513 7q11.23 duplication syndrome Guide→ 514 Anhidrotic ectodermal dysplasia with immune deficiency Guide→ 515 Jacobsen syndrome Guide→ 516 Dementia with Lewy bodies Guide→ 517 Multiple sulfatase deficiency Guide→ 518 Multiple endocrine neoplasia Guide→ 519 Cerebro-facio-thoracic dysplasia Guide→ 520 Caffey disease Guide→ 521 IMAGe syndrome Guide→ 522 Dilated cardiomyopathy with ataxia syndrome Guide→ 523 Achondroplasia Guide→ 524 Coloboma Guide→ 525 Mucolipidosis type IV Guide→ 526 1q21.1 microdeletion Guide→ 527 Constitutional mismatch repair deficiency syndrome Guide→ 528 Pseudohypoaldosteronism type 1 Guide→ 529 Infantile-onset ascending hereditary spastic paralysis Guide→ 530 Duchenne and Becker muscular dystrophy Guide→ 531 MYH9-related disorder Guide→ 532 Glycogen storage disease type VII Guide→ 533 3-M syndrome Guide→ 534 Nonsyndromic hearing loss Guide→ 535 X-linked lymphoproliferative disease Guide→ 536 1q21.1 microduplication Guide→ 537 Phosphoglycerate dehydrogenase deficiency Guide→ 538 Triosephosphate isomerase deficiency Guide→ 539 Boucher-Neuhäuser syndrome Guide→ 540 CHOPS syndrome Guide→ 541 Snijders Blok-Campeau syndrome Guide→ 542 Andermann syndrome Guide→ 543 Hirschsprung disease Guide→ 544 CLPB deficiency Guide→ 545 Saul-Wilson syndrome Guide→ 546 Autosomal dominant sleep-related hypermotor epilepsy Guide→ 547 3-beta-hydroxysteroid dehydrogenase deficiency Guide→ 548 Sitosterolemia Guide→ 549 Familial dysautonomia Guide→ 550 Tyrosinemia Guide→ 551 Stevens-Johnson syndrome/toxic epidermal necrolysis Guide→ 552 Cold-induced sweating syndrome Guide→ 553 Geleophysic dysplasia Guide→ 554 48,XXXY syndrome Guide→ 555 Wiedemann-Rautenstrauch syndrome Guide→ 556 Mucopolysaccharidosis type VII Guide→ 557 X-linked chondrodysplasia punctata 2 Guide→ 558 Fukuyama congenital muscular dystrophy Guide→ 559 Familial hypertrophic cardiomyopathy Guide→ 560 Gastrointestinal stromal tumor Guide→ 561 Progressive external ophthalmoplegia Guide→ 562 CLN8 disease Guide→ 563 Gaucher disease Guide→ 564 PACS1 syndrome Guide→ 565 SOST-related sclerosing bone dysplasia Guide→ 566 Moebius syndrome Guide→ 567 STAC3 disorder Guide→ 568 LAMA2-related muscular dystrophy Guide→ 569 Mitochondrial complex I deficiency Guide→ 570 Familial paroxysmal kinesigenic dyskinesia Guide→ 571 Hereditary neuropathy with liability to pressure palsies Guide→ 572 Schizoaffective disorder Guide→ 573 Trichorhinophalangeal syndrome type II Guide→ 574 Cantú syndrome Guide→ 575 Spastic paraplegia type 15 Guide→ 576 Farsightedness Guide→ 577 Riboflavin transporter deficiency neuronopathy Guide→ 578 Congenital hypothyroidism Guide→ 579 Von Hippel-Lindau syndrome Guide→ 580 Leukoencephalopathy with thalamus and brainstem involvement and high lactate Guide→ 581 Autosomal dominant hypocalcemia Guide→ 582 Congenital fibrosis of the extraocular muscles Guide→ 583 Pelizaeus-Merzbacher-like disease type 1 Guide→ 584 Wolf-Hirschhorn syndrome Guide→ 585 Rabson-Mendenhall syndrome Guide→ 586 Congenital fiber-type disproportion Guide→ 587 DOCK8 immunodeficiency syndrome Guide→ 588 Chediak-Higashi syndrome Guide→ 589 Klippel-Trenaunay syndrome Guide→ 590 Kindler epidermolysis bullosa Guide→ 591 Darier disease Guide→ 592 PGM3-congenital disorder of glycosylation Guide→ 593 Leukoencephalopathy with vanishing white matter Guide→ 594 Dent disease Guide→ 595 Pachyonychia congenita Guide→ 596 Thrombotic thrombocytopenic purpura Guide→ 597 Schimke immuno-osseous dysplasia Guide→ 598 Nonketotic hyperglycinemia Guide→ 599 Fatty acid hydroxylase-associated neurodegeneration Guide→ 600 Limb-girdle muscular dystrophy Guide→ 601 Nonsyndromic paraganglioma Guide→ 602 McLeod neuroacanthocytosis syndrome Guide→ 603 Epilepsy of infancy with migrating focal seizures Guide→ 604 Alkaptonuria Guide→ 605 McKusick-Kaufman syndrome Guide→ 606 Oculodentodigital dysplasia Guide→ 607 Desmoid tumor Guide→ 608 Hereditary sensory and autonomic neuropathy type II Guide→ 609 Atypical hemolytic-uremic syndrome Guide→ 610 Dowling-Degos disease Guide→ 611 X-linked myotubular myopathy Guide→ 612 Coats plus syndrome Guide→ 613 Gorlin syndrome Guide→ 614 Sjögren-Larsson syndrome Guide→ 615 Galactosialidosis Guide→ 616 Myotonic dystrophy Guide→ 617 Free sialic acid storage disorder Guide→ 618 Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis Guide→ 619 Schwartz-Jampel syndrome Guide→ 620 Congenital anomalies of kidney and urinary tract Guide→ 621 STXBP1 encephalopathy Guide→ 622 Metatropic dysplasia Guide→ 623 Swyer syndrome Guide→ 624 Opioid addiction Guide→ 625 Aicardi syndrome Guide→ 626 Glycogen storage disease type IX Guide→ 627 Stüve-Wiedemann syndrome Guide→ 628 Spinal muscular atrophy with progressive myoclonic epilepsy Guide→ 629 Megacystis-microcolon-intestinal hypoperistalsis syndrome Guide→ 630 GLUT1 deficiency syndrome Guide→ 631 Autosomal dominant optic atrophy and cataract Guide→ 632 Xia-Gibbs syndrome Guide→ 633 21-hydroxylase deficiency Guide→ 634 Narcolepsy Guide→ 635 10q26 deletion syndrome Guide→ 636 Holt-Oram syndrome Guide→ 637 Craniofacial microsomia Guide→ 638 Malignant hyperthermia Guide→ 639 Abetalipoproteinemia Guide→ 640 Mowat-Wilson syndrome Guide→ 641 Yuan-Harel-Lupski syndrome Guide→ 642 Frontotemporal dementia with parkinsonism-17 Guide→ 643 VACTERL association Guide→ 644 Spondyloenchondrodysplasia with immune dysregulation Guide→ 645 Autosomal dominant leukodystrophy with autonomic disease Guide→ 646 Congenital cataracts, facial dysmorphism, and neuropathy Guide→ 647 Otopalatodigital syndrome type 2 Guide→ 648 Proteus syndrome Guide→ 649 Thiopurine S-methyltransferase deficiency Guide→ 650 Craniofrontonasal syndrome Guide→ 651 Fragile X-associated tremor/ataxia syndrome Guide→ 652 Cholangiocarcinoma Guide→ 653 Branchiootorenal/branchiootic syndrome Guide→ 654 Mandibulofacial dysostosis with microcephaly Guide→ 655 Paget disease of bone Guide→ 656 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Guide→ 657 Autoimmune lymphoproliferative syndrome Guide→ 658 Dihydrolipoamide dehydrogenase deficiency Guide→ 659 Idiopathic pulmonary fibrosis Guide→ 660 Isolated growth hormone deficiency Guide→ 661 Chronic myeloid leukemia Guide→ 662 Generalized arterial calcification of infancy Guide→ 663 Neurofibromatosis type 1 Guide→ 664 Shprintzen-Goldberg syndrome Guide→ 665 Alagille syndrome Guide→ 666 MEGDEL syndrome Guide→ 667 Alveolar capillary dysplasia with misalignment of pulmonary veins Guide→ 668 CUL3-related neurodevelopmental disorder Guide→ 669 Idiopathic infantile hypercalcemia Guide→ 670 RAPADILINO syndrome Guide→ 671 Biotin-thiamine-responsive basal ganglia disease Guide→ 672 Spondylocostal dysostosis Guide→ 673 16p11.2 duplication Guide→ 674 Polymicrogyria Guide→ 675 Mucopolysaccharidosis type IV Guide→ 676 Rhizomelic chondrodysplasia punctata Guide→ 677 CLN1 disease Guide→ 678 Alpha thalassemia X-linked intellectual disability syndrome Guide→ 679 Peters anomaly Guide→ 680 Common variable immune deficiency Guide→ 681 Frontonasal dysplasia Guide→ 682 Hereditary diffuse gastric cancer Guide→ 683 Spastic paraplegia type 11 Guide→ 684 Crouzon syndrome with acanthosis nigricans Guide→ 685 Acute necrotizing encephalopathy type 1 Guide→ 686 Congenital hepatic fibrosis Guide→ 687 Bardet-Biedl syndrome Guide→ 688 Autoimmune Addison disease Guide→ 689 Autosomal dominant hyper-IgE syndrome Guide→ 690 Adenosine deaminase deficiency Guide→ 691 STING-associated vasculopathy with onset in infancy Guide→ 692 Smith-Magenis syndrome Guide→ 693 Congenital plasminogen deficiency Guide→ 694 Type A insulin resistance syndrome Guide→ 695 Spastic paraplegia type 2 Guide→ 696 Glycogen storage disease type III Guide→ 697 DLG4-related synaptopathy Guide→ 698 Au-Kline syndrome Guide→ 699 Rothmund-Thomson syndrome Guide→ 700 SATB2-associated syndrome Guide→ 701 Pulmonary veno-occlusive disease Guide→ 702 Simpson-Golabi-Behmel syndrome Guide→ 703 Jansen-de Vries syndrome Guide→ 704 Hypophosphatasia Guide→ 705 Isolated lissencephaly sequence Guide→ 706 Infantile neuroaxonal dystrophy Guide→ 707 Renal tubular acidosis with deafness Guide→ 708 Hyperparathyroidism-jaw tumor syndrome Guide→ 709 Galactosemia Guide→ 710 Microcephalic osteodysplastic primordial dwarfism type II Guide→ 711 Wiskott-Aldrich syndrome Guide→ 712 Allergic asthma Guide→ 713 Rapid-onset dystonia parkinsonism Guide→ 714 Familial hypercholesterolemia Guide→ 715 Aromatase deficiency Guide→ 716 Chronic atrial and intestinal dysrhythmia Guide→ 717 MED13L syndrome Guide→ 718 Purine nucleoside phosphorylase deficiency Guide→ 719 Alpha-mannosidosis Guide→ 720 Glycogen storage disease type 0 Guide→ 721 Nemaline myopathy Guide→ 722 COL4A1-related brain small-vessel disease Guide→ 723 Dihydropyrimidine dehydrogenase deficiency Guide→ 724 Maffucci syndrome Guide→ 725 Potocki-Lupski syndrome Guide→ 726 Sotos syndrome Guide→ 727 Restless legs syndrome Guide→ 728 Baller-Gerold syndrome Guide→ 729 Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay Guide→ 730 X-linked hypophosphatemia Guide→ 731 UNC80 deficiency Guide→ 732 Roberts syndrome Guide→ 733 Tetrasomy 18p Guide→ 734 Camurati-Engelmann disease Guide→ 735 Spastic paraplegia type 7 Guide→ 736 MPV17-related hepatocerebral mitochondrial DNA depletion syndrome Guide→ 737 Thrombocytopenia-absent radius syndrome Guide→ 738 Gyrate atrophy of the choroid and retina Guide→ 739 RNAse T2-deficient leukoencephalopathy Guide→ 740 Giant axonal neuropathy Guide→ 741 Progressive familial intrahepatic cholestasis Guide→ 742 Arginine vasopressin resistance Guide→ 743 Spinocerebellar ataxia type 36 Guide→ 744 Achondrogenesis Guide→ 745 ALG1-congenital disorder of glycosylation Guide→ 746 Chorea-acanthocytosis Guide→ 747 Capillary malformation-arteriovenous malformation syndrome Guide→ 748 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Guide→ 749 Cranioectodermal dysplasia Guide→ 750 Rigid spine muscular dystrophy Guide→ 751 Spinal muscular atrophy with respiratory distress type 1 Guide→ 752 CLN3 disease Guide→ 753 Hyperphosphatemic familial tumoral calcinosis Guide→ 754 Isovaleric acidemia Guide→ 755 Dermatofibrosarcoma protuberans Guide→ 756 Huntington's disease-like Guide→ 757 Vitamin D-dependent rickets Guide→ 758 Incontinentia pigmenti Guide→ 759 X-linked cardiac valvular dysplasia Guide→ 760 Axenfeld-Rieger syndrome Guide→ 761 Sézary syndrome Guide→ 762 Hermansky-Pudlak syndrome Guide→ 763 Buschke-Ollendorff syndrome Guide→ 764 Bloom syndrome Guide→ 765 Epidermolysis bullosa with pyloric atresia Guide→ 766 Keratoderma with woolly hair Guide→ 767 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Guide→ 768 Familial acute myeloid leukemia with mutated CEBPA Guide→ 769 FOXG1 syndrome Guide→ 770 Congenital mirror movement disorder Guide→ 771 Persistent Müllerian duct syndrome Guide→ 772 ADNP syndrome Guide→ 773 Spondyloepiphyseal dysplasia with marked metaphyseal changes Guide→ 774 Manitoba oculotrichoanal syndrome Guide→ 775 Adenylosuccinate lyase deficiency Guide→ 776 Rhabdoid tumor predisposition syndrome Guide→ 777 Robinow syndrome Guide→ 778 Troyer syndrome Guide→ 779 Pompe disease Guide→ 780 Anophthalmia/Microphthalmia Guide→ 781 Gorlin-Chaudhry-Moss syndrome Guide→ 782 Pendred syndrome Guide→ 783 Von Willebrand disease Guide→ 784 Fryns syndrome Guide→ 785 Beta thalassemia Guide→ 786 Walker-Warburg syndrome Guide→ 787 FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome Guide→ 788 17q12 deletion syndrome Guide→ 789 Ataxia-telangiectasia Guide→ 790 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart Guide→ 791 Bartter syndrome Guide→ 792 Duane-radial ray syndrome Guide→ 793 Lafora progressive myoclonus epilepsy Guide→ 794 Hereditary folate malabsorption Guide→ 795 Beckwith-Wiedemann syndrome Guide→ 796 Kallmann syndrome Guide→ 797 Donohue syndrome Guide→ 798 Thiamine-responsive megaloblastic anemia syndrome Guide→ 799 Benign familial neonatal seizures Guide→ 800 CHD2 myoclonic encephalopathy Guide→ 801 Aceruloplasminemia Guide→ 802 Neuroblastoma Guide→ 803 Action myoclonus–renal failure syndrome Guide→ 804 Distal hereditary motor neuropathy, type V Guide→ 805 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Guide→ 806 Leber congenital amaurosis Guide→ 807 Kearns-Sayre syndrome Guide→ 808 Tetra-amelia syndrome Guide→ 809 X-linked hyper IgM syndrome Guide→ 810 Nakajo-Nishimura syndrome Guide→ 811 PDGFRA-associated chronic eosinophilic leukemia Guide→ 812 Sick sinus syndrome Guide→ 813 Familial restrictive cardiomyopathy Guide→ 814 D-bifunctional protein deficiency Guide→ 815 Intrahepatic cholestasis of pregnancy Guide→ 816 Yao syndrome Guide→ 817 Alpers-Huttenlocher syndrome Guide→ 818 Erdheim-Chester disease Guide→ 819 Familial hyperaldosteronism Guide→ 820 15q13.3 microdeletion Guide→ 821 Lymphangioleiomyomatosis Guide→ 822 Andersen-Tawil syndrome Guide→ 823 Floating-Harbor syndrome Guide→ 824 Isolated ectopia lentis Guide→ 825 MBD5-associated neurodevelopmental disorder Guide→ 826 Dihydropyrimidinase deficiency Guide→ 827 Laryngo-onycho-cutaneous syndrome Guide→ 828 Snyder-Robinson syndrome Guide→ 829 3-methylglutaconyl-CoA hydratase deficiency Guide→ 830 Primary localized cutaneous amyloidosis Guide→ 831 Retroperitoneal fibrosis Guide→ 832 Activated PI3K-delta syndrome Guide→ 833 Very long-chain acyl-CoA dehydrogenase deficiency Guide→ 834 Hereditary leiomyomatosis and renal cell cancer Guide→ 835 Androgen insensitivity syndrome Guide→ 836 Pyridoxal phosphate-responsive seizures Guide→ 837 Tay-Sachs disease Guide→ 838 GRN-related frontotemporal lobar degeneration Guide→ 839 Blepharocheilodontic syndrome Guide→ 840 CLN10 disease Guide→ 841 Autosomal recessive congenital methemoglobinemia Guide→ 842 Gnathodiaphyseal dysplasia Guide→ 843 Retinoblastoma Guide→ 844 Distal hereditary motor neuropathy, type II Guide→ 845 Dopa-responsive dystonia Guide→ 846 3q29 microdeletion syndrome Guide→ 847 Imerslund-Gräsbeck syndrome Guide→ 848 Deafness-dystonia-optic neuronopathy syndrome Guide→ 849 Glutaric acidemia type I Guide→ 850 Centronuclear myopathy Guide→ 851 2-hydroxyglutaric aciduria Guide→ 852 ADCY5-related dyskinesia Guide→ 853 Ankyrin-B syndrome Guide→ 854 Familial hemophagocytic lymphohistiocytosis Guide→ 855 Trichohepatoenteric syndrome Guide→ 856 Nail-patella syndrome Guide→ 857 Auriculocondylar syndrome Guide→ 858 X-linked spondyloepiphyseal dysplasia tarda Guide→ 859 Oculopharyngeal muscular dystrophy Guide→ 860 Pyruvate carboxylase deficiency Guide→ 861 Gillespie syndrome Guide→ 862 Melorheostosis Guide→ 863 Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis Guide→ 864 Core binding factor acute myeloid leukemia Guide→ 865 Cytochrome c oxidase deficiency Guide→ 866 Dystonia 16 Guide→ 867 Glycogen storage disease type V Guide→ 868 KBG syndrome Guide→ 869 Mandibuloacral dysplasia Guide→ 870 Bosma arhinia microphthalmia syndrome Guide→ 871 Larsen syndrome Guide→ 872 Alternating hemiplegia of childhood Guide→ 873 Retinitis pigmentosa Guide→ 874 C3 glomerulopathy Guide→ 875 Familial encephalopathy with neuroserpin inclusion bodies Guide→ 876 Aarskog-Scott syndrome Guide→ 877 Primary hyperoxaluria Guide→ 878 Hereditary spherocytosis Guide→ 879 GM3 synthase deficiency Guide→ 880 HIVEP2-related intellectual disability Guide→ 881 Isolated Pierre Robin sequence Guide→ 882 Intestinal pseudo-obstruction Guide→ 883 Multiple familial trichoepithelioma Guide→ 884 Nephronophthisis Guide→ 885 Carnitine palmitoyltransferase I deficiency Guide→ 886 Congenital insensitivity to pain with anhidrosis Guide→ 887 Lowe syndrome Guide→ 888 Burn-McKeown syndrome Guide→ 889 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Guide→ 890 Otopalatodigital syndrome type 1 Guide→ 891 Aniridia Guide→ 892 Kabuki syndrome Guide→ 893 Congenital diaphragmatic hernia Guide→ 894 Pfeiffer syndrome Guide→ 895 Acute promyelocytic leukemia Guide→ 896 Autosomal dominant epilepsy with auditory features Guide→ 897 Adenine phosphoribosyltransferase deficiency Guide→ 898 Sporadic hemiplegic migraine Guide→ 899 Microcephaly-capillary malformation syndrome Guide→ 900 Melnick-Needles syndrome Guide→ 901 Prothrombin thrombophilia Guide→ 902 SETBP1 haploinsufficiency disorder Guide→ 903 Sudden infant death with dysgenesis of the testes syndrome Guide→ 904 Benign recurrent intrahepatic cholestasis Guide→ 905 CLN11 disease Guide→ 906 GNE myopathy Guide→ 907 Saethre-Chotzen syndrome Guide→ 908 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Guide→ 909 CLCN2-related leukoencephalopathy Guide→ 910 Hyperlysinemia Guide→ 911 Ollier disease Guide→ 912 Mucolipidosis II alpha/beta Guide→ 913 Myofibrillar myopathy Guide→ 914 Leukocyte adhesion deficiency type 1 Guide→ 915 2q37 deletion syndrome Guide→ 916 Anauxetic dysplasia Guide→ 917 Surfactant dysfunction Guide→ 918 Juvenile Paget disease Guide→ 919 Pantothenate kinase-associated neurodegeneration Guide→ 920 X-linked agammaglobulinemia Guide→ 921 Short/branched chain acyl-CoA dehydrogenase deficiency Guide→ 922 Donnai-Barrow syndrome Guide→ 923 Farber lipogranulomatosis Guide→ 924 22q13.3 deletion syndrome Guide→ 925 Hereditary sensory neuropathy type IA Guide→ 926 Familial paroxysmal nonkinesigenic dyskinesia Guide→ 927 VEXAS syndrome Guide→ 928 Crigler-Najjar syndrome Guide→ 929 Familial hemiplegic migraine Guide→ 930 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant Guide→ 931 Episodic ataxia Guide→ 932 Factor V Leiden thrombophilia Guide→ 933 Primary familial brain calcification Guide→ 934 X-linked juvenile retinoschisis Guide→ 935 X-linked sideroblastic anemia and ataxia Guide→ 936 Frontometaphyseal dysplasia Guide→ 937 Aspartylglucosaminuria Guide→ 938 Nager syndrome Guide→ 939 Protein S deficiency Guide→ 940 Adams-Oliver syndrome Guide→ 941 Meier-Gorlin syndrome Guide→ 942 8p11 myeloproliferative syndrome Guide→ 943 Genitopatellar syndrome Guide→ 944 Mitochondrial neurogastrointestinal encephalopathy disease Guide→ 945 Atelosteogenesis type 3 Guide→ 946 Hypomyelination with brainstem and spinal cord involvement and leg spasticity Guide→ 947 Coffin-Siris syndrome Guide→ 948 Baraitser-Winter syndrome Guide→ 949 Majeed syndrome Guide→ 950 Trichorhinophalangeal syndrome type I Guide→ 951 Renal tubular dysgenesis Guide→ 952 Cytogenetically normal acute myeloid leukemia Guide→ 953 Dopamine beta-hydroxylase deficiency Guide→ 954 Progressive myoclonic epilepsy type 1 Guide→ 955 Prolidase deficiency Guide→ 956 Dopamine transporter deficiency syndrome Guide→ 957 Intervertebral disc disease Guide→ 958 Leber hereditary optic neuropathy Guide→ 959 Sandhoff disease Guide→ 960 Carbonic anhydrase VA deficiency Guide→ 961 LMNA-related congenital muscular dystrophy Guide→ 962 Subcortical band heterotopia Guide→ 963 FG syndrome Guide→ 964 Familial focal epilepsy with variable foci Guide→ 965 Aromatic l-amino acid decarboxylase deficiency Guide→ 966 Autosomal dominant cerebellar ataxia, deafness, and narcolepsy Guide→ 967 Idiopathic inflammatory myopathy Guide→ 968 Pseudocholinesterase deficiency Guide→ 969 Warfarin resistance Guide→ 970 RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Guide→ 971 Knobloch syndrome Guide→ 972 Costeff syndrome Guide→ 973 Asparagine synthetase deficiency Guide→ 974 Transcobalamin deficiency Guide→ 975 SLC35A2-congenital disorder of glycosylation Guide→ 976 CLN6 disease Guide→ 977 Spondylothoracic dysostosis Guide→ 978 Early-onset glaucoma Guide→ 979 Laron syndrome Guide→ 980 GRIN2B-related neurodevelopmental disorder Guide→ 981 Hereditary sensory and autonomic neuropathy type IE Guide→ 982 Fibrochondrogenesis Guide→ 983 Griscelli syndrome Guide→ 984 Blepharophimosis, ptosis, and epicanthus inversus syndrome Guide→ 985 Char syndrome Guide→ 986 Permanent neonatal diabetes mellitus Guide→ 987 Schwannomatosis Guide→ 988 Encephalocraniocutaneous lipomatosis Guide→ 989 Autosomal recessive spastic ataxia of Charlevoix-Saguenay Guide→ 990 CHMP2B-related frontotemporal dementia Guide→ 991 Channelopathy-associated congenital insensitivity to pain Guide→ 992 Periventricular heterotopia Guide→ 993 Oculofaciocardiodental syndrome Guide→ 994 Small fiber neuropathy Guide→ 995 Wilms tumor Guide→ 996 Hypohidrotic ectodermal dysplasia Guide→ 997 Infantile-onset spinocerebellar ataxia Guide→ 998 PURA syndrome Guide→ 999 Huntington's disease Guide→ 1000 Waardenburg syndrome Guide→ 1001 Cap myopathy Guide→ 1002 Polycystic kidney disease Guide→ 1003 Hereditary fructose intolerance Guide→ 1004 Popliteal pterygium syndrome Guide→ 1005 SCN8A-related epilepsy with encephalopathy Guide→ 1006 47,XYY syndrome Guide→ 1007 Kniest dysplasia Guide→ 1008 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Guide→ 1009 Mitochondrial complex III deficiency Guide→ 1010 Adenosine deaminase 2 deficiency Guide→ 1011 Congenital bile acid synthesis defect type 1 Guide→ 1012 Progressive pseudorheumatoid dysplasia Guide→ 1013 Partington syndrome Guide→ 1014 Arginine vasopressin deficiency Guide→ 1015 Hereditary hyperekplexia Guide→ 1016 Cherubism Guide→ 1017 Scalp-ear-nipple syndrome Guide→ 1018 Fragile X-associated primary ovarian insufficiency Guide→ 1019 Pilomatricoma Guide→ 1020 Asphyxiating thoracic dystrophy Guide→ 1021 CLN2 disease Guide→ 1022 Clopidogrel resistance Guide→ 1023 Craniometaphyseal dysplasia Guide→ 1024 Parkes Weber syndrome Guide→ 1025 19p13.13 deletion syndrome Guide→ 1026 Perrault syndrome Guide→ 1027 Beare-Stevenson cutis gyrata syndrome Guide→ 1028 Glutathione synthetase deficiency Guide→ 1029 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Guide→ 1030 Essential thrombocythemia Guide→ 1031 MyD88 deficiency Guide→ 1032 Tumor necrosis factor receptor-associated periodic syndrome Guide→ 1033 Alexander disease Guide→ 1034 Ataxia-pancytopenia syndrome Guide→ 1035 ALG12-congenital disorder of glycosylation Guide→ 1036 Oculocutaneous albinism Guide→ 1037 Familial osteochondritis dissecans Guide→ 1038 Familial exudative vitreoretinopathy Guide→ 1039 Silver-Russell syndrome Guide→ 1040 Hereditary angioedema Guide→ 1041 Canavan disease Guide→ 1042 Mitochondrial membrane protein-associated neurodegeneration Guide→ 1043 Miller syndrome Guide→ 1044 Protein C deficiency Guide→ 1045 Age-related hearing loss Guide→ 1046 Multicentric osteolysis, nodulosis, and arthropathy Guide→ 1047 Lujan syndrome Guide→ 1048 White-Sutton syndrome Guide→ 1049 Krabbe disease Guide→ 1050 Emery-Dreifuss muscular dystrophy Guide→ 1051 Weissenbacher-Zweymüller syndrome Guide→ 1052 Ewing sarcoma Guide→ 1053 Spastic paraplegia type 5A Guide→ 1054 Tarsal-carpal coalition syndrome Guide→ 1055 Pseudoxanthoma elasticum Guide→ 1056 Keratitis-ichthyosis-deafness syndrome Guide→ 1057 Anophthalmia/microphthalmia-esophageal atresia syndrome Guide→ 1058 Medullary cystic kidney disease type 1 Guide→ 1059 Osteoporosis-pseudoglioma syndrome Guide→ 1060 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Guide→ 1061 Early-onset isolated dystonia Guide→ 1062 Isolated Duane retraction syndrome Guide→ 1063 Polycythemia vera Guide→ 1064 X-linked dystonia-parkinsonism Guide→ 1065 Congenital bile acid synthesis defect type 2 Guide→ 1066 Inherited thyroxine-binding globulin deficiency Guide→ 1067 Moyamoya disease Guide→ 1068 Acrocallosal syndrome Guide→ 1069 Myotonia congenita Guide→ 1070 3p deletion syndrome Guide→ 1071 Congenital myasthenic syndromes Guide→ 1072 Potocki-Shaffer syndrome Guide→ 1073 Liebenberg syndrome Guide→ 1074 Fibrodysplasia ossificans progressiva Guide→ 1075 Sheldon-Hall syndrome Guide→ 1076 Factor XI deficiency Guide→ 1077 Cockayne syndrome Guide→ 1078 Vitelliform macular dystrophy Guide→ 1079 Benign essential blepharospasm Guide→ 1080 Hereditary multiple osteochondromas Guide→ 1081 Spinocerebellar ataxia type 3 Guide→ 1082 Hypomyelination and congenital cataract Guide→ 1083 CHILD syndrome Guide→ 1084 Cerebral cavernous malformation Guide→ 1085 Recurrent hydatidiform mole Guide→ 1086 Complement component 2 deficiency Guide→ 1087 Nonsyndromic aplasia cutis congenita Guide→ 1088 REN-related kidney disease Guide→ 1089 Acromicric dysplasia Guide→ 1090 Tubular aggregate myopathy Guide→ 1091 Cone-rod dystrophy Guide→ 1092 Familial Mediterranean fever Guide→ 1093 Otospondylomegaepiphyseal dysplasia Guide→ 1094 Nonsyndromic dilated cardiomyopathy Guide→ 1095 Lactate dehydrogenase deficiency Guide→ 1096 Tibial muscular dystrophy Guide→ 1097 FOXP2-related speech and language disorder Guide→ 1098 X-linked sideroblastic anemia Guide→ 1099 Pseudoachondroplasia Guide→ 1100 Neurofibromatosis type 2 Guide→ 1101 Phosphoglycerate kinase deficiency Guide→ 1102 HSD10 disease Guide→ 1103 X-linked acrogigantism Guide→ 1104 Multiple system atrophy Guide→ 1105 Paroxysmal extreme pain disorder Guide→ 1106 Dysequilibrium syndrome Guide→ 1107 Lymphedema-distichiasis syndrome Guide→ 1108 Complete LCAT deficiency Guide→ 1109 T-cell immunodeficiency, congenital alopecia, and nail dystrophy Guide→ 1110 Pulmonary alveolar microlithiasis Guide→ 1111 Autosomal recessive primary microcephaly Guide→ 1112 Hepatic veno-occlusive disease with immunodeficiency Guide→ 1113 MECP2-related severe neonatal encephalopathy Guide→ 1114 3-hydroxyacyl-CoA dehydrogenase deficiency Guide→ 1115 Epidermolytic hyperkeratosis Guide→ 1116 Perry syndrome Guide→ 1117 Proopiomelanocortin deficiency Guide→ 1118 17q12 duplication Guide→ 1119 Weaver syndrome Guide→ 1120 Isobutyryl-CoA dehydrogenase deficiency Guide→ 1121 X-linked chondrodysplasia punctata 1 Guide→ 1122 Combined oxidative phosphorylation deficiency 1 Guide→ 1123 Pyruvate kinase deficiency Guide→ 1124 Factor XIII deficiency Guide→ 1125 5q minus syndrome Guide→ 1126 KCNK9 imprinting syndrome Guide→ 1127 Ocular albinism Guide→ 1128 Feingold syndrome Guide→ 1129 1p36 deletion syndrome Guide→ 1130 Gilbert syndrome Guide→ 1131 Harlequin ichthyosis Guide→ 1132 X-linked thrombocytopenia Guide→ 1133 Ménière disease Guide→ 1134 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes Guide→ 1135 Fundus albipunctatus Guide→ 1136 Short-chain acyl-CoA dehydrogenase deficiency Guide→ 1137 Denys-Drash syndrome Guide→ 1138 Primary myelofibrosis Guide→ 1139 Renpenning syndrome Guide→ 1140 X-linked lissencephaly with abnormal genitalia Guide→ 1141 Clouston syndrome Guide→ 1142 GM2 activator deficiency Guide→ 1143 Glutaric acidemia type II Guide→ 1144 Primary spontaneous pneumothorax Guide→ 1145 Congenital contractural arachnodactyly Guide→ 1146 5-alpha reductase deficiency Guide→ 1147 Warfarin sensitivity Guide→ 1148 Craniofacial-deafness-hand syndrome Guide→ 1149 Ochoa syndrome Guide→ 1150 6q24-related transient neonatal diabetes mellitus Guide→ 1151 DNMT3A overgrowth syndrome Guide→ 1152 Achromatopsia Guide→ 1153 Chordoma Guide→ 1154 Pulmonary arterial hypertension Guide→ 1155 Spinocerebellar ataxia type 2 Guide→ 1156 Autosomal recessive axonal neuropathy with neuromyotonia Guide→ 1157 Angelman syndrome Guide→ 1158 Actin-accumulation myopathy Guide→ 1159 Familial isolated hyperparathyroidism Guide→ 1160 Autosomal dominant tubulointerstitial kidney disease-UMOD Guide→ 1161 Enlarged parietal foramina Guide→ 1162 Cohen syndrome Guide→ 1163 Omenn syndrome Guide→ 1164 Adermatoglyphia Guide→ 1165 Isolated congenital asplenia Guide→ 1166 17-beta hydroxysteroid dehydrogenase 3 deficiency Guide→ 1167 CLN5 disease Guide→ 1168 Hypochondroplasia Guide→ 1169 Winchester syndrome Guide→ 1170 Bare lymphocyte syndrome type II Guide→ 1171 X-linked congenital stationary night blindness Guide→ 1172 Hepatic lipase deficiency Guide→ 1173 Cushing disease Guide→ 1174 Lysinuric protein intolerance Guide→ 1175 Spastic paraplegia type 4 Guide→ 1176 Androgenetic alopecia Guide→ 1177 Familial glucocorticoid deficiency Guide→ 1178 Multiple mitochondrial dysfunctions syndrome Guide→ 1179 Spastic paraplegia type 3A Guide→ 1180 Pyruvate dehydrogenase deficiency Guide→ 1181 Fragile X syndrome Guide→ 1182 Glucose-6-phosphate dehydrogenase deficiency Guide→ 1183 Hereditary antithrombin deficiency Guide→ 1184 Intranuclear rod myopathy Guide→ 1185 Myoclonic epilepsy myopathy sensory ataxia Guide→ 1186 X-linked dilated cardiomyopathy Guide→ 1187 IRAK-4 deficiency Guide→ 1188 Left ventricular noncompaction Guide→ 1189 16p11.2 deletion syndrome Guide→ 1190 Bradyopsia Guide→ 1191 Generalized pustular psoriasis Guide→ 1192 Isolated hyperchlorhidrosis Guide→ 1193 Head and neck squamous cell carcinoma Guide→ 1194 Optic atrophy type 1 Guide→ 1195 CLN4 disease Guide→ 1196 Developmental and epileptic encephalopathy 1 Guide→ 1197 GRACILE syndrome Guide→ 1198 5q31.3 microdeletion syndrome Guide→ 1199 Brugada syndrome Guide→ 1200 Glucose phosphate isomerase deficiency Guide→ 1201 Multiple epiphyseal dysplasia Guide→ 1202 ACAD9 deficiency Guide→ 1203 Myopathy with deficiency of iron-sulfur cluster assembly enzyme Guide→ 1204 Smith-Kingsmore syndrome Guide→ 1205 Autosomal dominant vitreoretinochoroidopathy Guide→ 1206 Renal hypouricemia Guide→ 1207 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Guide→ 1208 Renal coloboma syndrome Guide→ 1209 Myoclonic epilepsy with ragged-red fibers Guide→ 1210 Meckel syndrome Guide→ 1211 Spastic paraplegia type 8 Guide→ 1212 Dentinogenesis imperfecta Guide→ 1213 Early-onset myopathy with fatal cardiomyopathy Guide→ 1214 Mitochondrial trifunctional protein deficiency Guide→ 1215 Fucosidosis Guide→ 1216 Bowen-Conradi syndrome Guide→ 1217 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Guide→ 1218 Hyperkalemic periodic paralysis Guide→ 1219 Adiposis dolorosa Guide→ 1220 Senior-Løken syndrome Guide→ 1221 Spondylocarpotarsal synostosis syndrome Guide→ 1222 Horizontal gaze palsy with progressive scoliosis Guide→ 1223 Hyperferritinemia-cataract syndrome Guide→ 1224 Silver syndrome Guide→ 1225 Kleefstra syndrome Guide→ 1226 Hand-foot-genital syndrome Guide→ 1227 CHST3-related skeletal dysplasia Guide→ 1228 Spastic paraplegia type 31 Guide→ 1229 Myosin storage myopathy Guide→ 1230 Fibronectin glomerulopathy Guide→ 1231 Severe congenital neutropenia Guide→ 1232 Cornelia de Lange syndrome Guide→ 1233 Coffin-Lowry syndrome Guide→ 1234 Werner syndrome Guide→ 1235 N-acetylglutamate synthase deficiency Guide→ 1236 PRICKLE1-related progressive myoclonus epilepsy with ataxia Guide→ 1237 Cryptogenic cirrhosis Guide→ 1238 Ataxia neuropathy spectrum Guide→ 1239 Congenital nephrotic syndrome Guide→ 1240 Spinal muscular atrophy with lower extremity predominance Guide→ 1241 16p12.2 microdeletion Guide→ 1242 Erythromelalgia Guide→ 1243 Treacher Collins syndrome Guide→ 1244 Piebaldism Guide→ 1245 Leydig cell hypoplasia Guide→ 1246 3MC syndrome Guide→ 1247 Horner syndrome Guide→ 1248 Miller-Dieker syndrome Guide→ 1249 SUCLG1-related mitochondrial DNA depletion syndrome Guide→ 1250 Hereditary myopathy with early respiratory failure Guide→ 1251 Corticosterone methyloxidase deficiency Guide→ 1252 Glanzmann thrombasthenia Guide→ 1253 Congenital sucrase-isomaltase deficiency Guide→ 1254 COG5-congenital disorder of glycosylation Guide→ 1255 Bietti crystalline dystrophy Guide→ 1256 Romano-Ward syndrome Guide→ 1257 TK2-related mitochondrial DNA depletion syndrome, myopathic form Guide→ 1258 Erythrokeratodermia variabilis et progressiva Guide→ 1259 Propionic acidemia Guide→ 1260 Hyperprolinemia Guide→ 1261 Monilethrix Guide→ 1262 Adult polyglucosan body disease Guide→ 1263 Ophthalmo-acromelic syndrome Guide→ 1264 X-linked adrenal hypoplasia congenita Guide→ 1265 Refsum disease Guide→ 1266 Vohwinkel syndrome Guide→ 1267 Color vision deficiency Guide→ 1268 Desmosterolosis Guide→ 1269 Wagner syndrome Guide→ 1270 ALG6-congenital disorder of glycosylation Guide→ 1271 Mucolipidosis III alpha/beta Guide→ 1272 Neuropathy, ataxia, and retinitis pigmentosa Guide→ 1273 Paramyotonia congenita Guide→ 1274 Ring chromosome 14 syndrome Guide→ 1275 Frasier syndrome Guide→ 1276 Rippling muscle disease Guide→ 1277 Boomerang dysplasia Guide→ 1278 Hypomagnesemia with secondary hypocalcemia Guide→ 1279 Monoamine oxidase A deficiency Guide→ 1280 Mayer-Rokitansky-Küster-Hauser syndrome Guide→ 1281 Cyclic neutropenia Guide→ 1282 Spinocerebellar ataxia type 1 Guide→ 1283 Arginase deficiency Guide→ 1284 Laing distal myopathy Guide→ 1285 Tangier disease Guide→ 1286 Argininosuccinic aciduria Guide→ 1287 Familial pityriasis rubra pilaris Guide→ 1288 Sialuria Guide→ 1289 Pyridoxine-dependent epilepsy Guide→ 1290 Congenital hyperinsulinism Guide→ 1291 Microvillus inclusion disease Guide→ 1292 Complement component 8 deficiency Guide→ 1293 Primary macronodular adrenal hyperplasia Guide→ 1294 Gordon Holmes syndrome Guide→ 1295 Acatalasemia Guide→ 1296 Molybdenum cofactor deficiency Guide→ 1297 Primary carnitine deficiency Guide→ 1298 Gray platelet syndrome Guide→ 1299 Nonbullous congenital ichthyosiform erythroderma Guide→ 1300 MUTYH-associated polyposis Guide→ 1301 Phosphoribosylpyrophosphate synthetase superactivity Guide→ 1302 Hypokalemic periodic paralysis Guide→ 1303 Muenke syndrome Guide→ 1304 ZAP70-related severe combined immunodeficiency Guide→ 1305 Hutchinson-Gilford progeria syndrome Guide→ 1306 Childhood absence epilepsy Guide→ 1307 Weill-Marchesani syndrome Guide→ 1308 Anencephaly Guide→ 1309 Hailey-Hailey disease Guide→ 1310 Otulipenia Guide→ 1311 Lissencephaly with cerebellar hypoplasia Guide→ 1312 Pseudohypoaldosteronism type 2 Guide→ 1313 Tietz syndrome Guide→ 1314 Hartnup disease Guide→ 1315 Sepiapterin reductase deficiency Guide→ 1316 CLN7 disease Guide→ 1317 X-linked infantile spinal muscular atrophy Guide→ 1318 Marinesco-Sjögren syndrome Guide→ 1319 Ohdo syndrome, Maat-Kievit-Brunner type Guide→ 1320 Kuskokwim syndrome Guide→ 1321 Miyoshi myopathy Guide→ 1322 Smith-Lemli-Opitz syndrome Guide→ 1323 Homocystinuria Guide→ 1324 Lynch syndrome Guide→ 1325 Microphthalmia with linear skin defects syndrome Guide→ 1326 Proximal 18q deletion syndrome Guide→ 1327 Hypermethioninemia Guide→ 1328 Diastrophic dysplasia Guide→ 1329 Familial HDL deficiency Guide→ 1330 Gitelman syndrome Guide→ 1331 Combined malonic and methylmalonic aciduria Guide→ 1332 Familial porencephaly Guide→ 1333 X-linked infantile nystagmus Guide→ 1334 MECP2 duplication syndrome Guide→ 1335 Mucolipidosis III gamma Guide→ 1336 Arts syndrome Guide→ 1337 Bare lymphocyte syndrome type I Guide→ 1338 Müllerian aplasia and hyperandrogenism Guide→ 1339 Fragile XE syndrome Guide→ 1340 Medium-chain acyl-CoA dehydrogenase deficiency Guide→ 1341 Björnstad syndrome Guide→ 1342 Succinyl-CoA:3-ketoacid CoA transferase deficiency Guide→ 1343 Meesmann corneal dystrophy Guide→ 1344 White sponge nevus Guide→ 1345 Childhood myocerebrohepatopathy spectrum Guide→ 1346 Fabry disease Guide→ 1347 3-methylcrotonyl-CoA carboxylase deficiency Guide→ 1348 Congenital stromal corneal dystrophy Guide→ 1349 3q29 microduplication syndrome Guide→ 1350 Recombinant 8 syndrome Guide→ 1351 Juvenile myoclonic epilepsy Guide→ 1352 Tetrahydrobiopterin deficiency Guide→ 1353 Ring chromosome 20 syndrome Guide→ 1354 SUCLA2-related mitochondrial DNA depletion syndrome Guide→ 1355 Central precocious puberty Guide→ 1356 Glycogen storage disease type VI Guide→ 1357 Short QT syndrome Guide→ 1358 Autosomal recessive hypotrichosis Guide→ 1359 Li-Fraumeni syndrome Guide→ 1360 Carnitine-acylcarnitine translocase deficiency Guide→ 1361 Lamellar ichthyosis Guide→ 1362 Maternally inherited diabetes and deafness Guide→ 1363 Lesch-Nyhan syndrome Guide→ 1364 Factor VII deficiency Guide→ 1365 Methemoglobinemia, beta-globin type Guide→ 1366 Emanuel syndrome Guide→ 1367 Peroxisomal acyl-CoA oxidase deficiency Guide→ 1368 Congenital afibrinogenemia Guide→ 1369 Carbamoyl phosphate synthetase I deficiency Guide→ 1370 Peutz-Jeghers syndrome Guide→ 1371 Atelosteogenesis type 1 Guide→ 1372 Stargardt macular degeneration Guide→ 1373 Distal myopathy 2 Guide→ 1374 Beta-mannosidosis Guide→ 1375 Milroy disease Guide→ 1376 Cerebral folate transport deficiency Guide→ 1377 Chylomicron retention disease Guide→ 1378 Koolen-de Vries syndrome Guide→ 1379 NGLY1-congenital disorder of deglycosylation Guide→ 1380 Familial hypobetalipoproteinemia Guide→ 1381 Biotinidase deficiency Guide→ 1382 Léri-Weill dyschondrosteosis Guide→ 1383 Spondyloepiphyseal dysplasia with metatarsal shortening Guide→ 1384 Iron-refractory iron deficiency anemia Guide→ 1385 Norrie disease Guide→ 1386 Lattice corneal dystrophy type I Guide→ 1387 DOLK-congenital disorder of glycosylation Guide→ 1388 Glucose-galactose malabsorption Guide→ 1389 Fuchs endothelial dystrophy Guide→ 1390 Myoclonus-dystonia Guide→ 1391 Mannose-binding lectin deficiency Guide→ 1392 15q24 microdeletion Guide→ 1393 Beta-ureidopropionase deficiency Guide→ 1394 Macrozoospermia Guide→ 1395 Corticosteroid-binding globulin deficiency Guide→ 1396 Ghosal hematodiaphyseal dysplasia Guide→ 1397 Legius syndrome Guide→ 1398 Hereditary xanthinuria Guide→ 1399 Thanatophoric dysplasia Guide→ 1400 Alport syndrome Guide→ 1401 MDA5 deficiency Guide→ 1402 Congenital bilateral absence of the vas deferens Guide→ 1403 Neuroferritinopathy Guide→ 1404 Supravalvular aortic stenosis Guide→ 1405 46,XX testicular difference of sex development Guide→ 1406 Dubin-Johnson syndrome Guide→ 1407 Amish lethal microcephaly Guide→ 1408 Chanarin-Dorfman syndrome Guide→ 1409 Meige disease Guide→ 1410 Pyle disease Guide→ 1411 Eosinophil peroxidase deficiency Guide→ 1412 Birt-Hogg-Dubé syndrome Guide→ 1413 Menkes syndrome Guide→ 1414 Spinal and bulbar muscular atrophy Guide→ 1415 Crouzon syndrome Guide→ 1416 Jackson-Weiss syndrome Guide→ 1417 Ellis-van Creveld syndrome Guide→ 1418 Ethylmalonic encephalopathy Guide→ 1419 X-linked creatine deficiency Guide→ 1420 Hystrix-like ichthyosis with deafness Guide→ 1421 Allan-Herndon-Dudley syndrome Guide→ 1422 Fumarase deficiency Guide→ 1423 Guanidinoacetate methyltransferase deficiency Guide→ 1424 Methylmalonic acidemia Guide→ 1425 Factor X deficiency Guide→ 1426 Complete plasminogen activator inhibitor 1 deficiency Guide→ 1427 Alström syndrome Guide→ 1428 Adenosine monophosphate deaminase deficiency Guide→ 1429 Bart-Pumphrey syndrome Guide→ 1430 Hypochromic microcytic anemia with iron overload Guide→ 1431 Van der Woude syndrome Guide→ 1432 Prekallikrein deficiency Guide→ 1433 CAV3-related distal myopathy Guide→ 1434 Weyers acrofacial dysostosis Guide→ 1435 Glutamate formiminotransferase deficiency Guide→ 1436 Succinic semialdehyde dehydrogenase deficiency Guide→ 1437 Ichthyosis with confetti Guide→ 1438 Bunion Guide→ 1439 Pallister-Hall syndrome Guide→ 1440 Potassium-aggravated myotonia Guide→ 1441 Congenital deafness with labyrinthine aplasia, microtia, and microdontia Guide→ 1442 SADDAN Guide→ 1443 Arrhythmogenic right ventricular cardiomyopathy Guide→ 1444 Dentatorubral-pallidoluysian atrophy Guide→ 1445 Greenberg dysplasia Guide→ 1446 PDGFRB-associated chronic eosinophilic leukemia Guide→ 1447 Familial erythrocytosis Guide→ 1448 Aldosterone-producing adenoma Guide→ 1449 SYNGAP1-related intellectual disability Guide→ 1450 Holocarboxylase synthetase deficiency Guide→ 1451 GABA-transaminase deficiency Guide→ 1452 Hereditary sensory and autonomic neuropathy type V Guide→ 1453 Cystinuria Guide→ 1454 X-linked intellectual disability, Siderius type Guide→ 1455 Ataxia with vitamin E deficiency Guide→ 1456 Congenital leptin deficiency Guide→ 1457 Atelosteogenesis type 2 Guide→ 1458 Rotor syndrome Guide→ 1459 Maple syrup urine disease Guide→ 1460 Multiple cutaneous and mucosal venous malformations Guide→ 1461 Brody myopathy Guide→ 1462 JAK3-deficient severe combined immunodeficiency Guide→ 1463 Deafness and myopia syndrome Guide→ 1464 Alpha-methylacyl-CoA racemase deficiency Guide→ 1465 Stormorken syndrome Guide→ 1466 Y chromosome infertility Guide→ 1467 Christianson syndrome Guide→ 1468 PPP2R5D-related intellectual disability Guide→ 1469 Phosphoglycerate mutase deficiency Guide→ 1470 Choroideremia Guide→ 1471 Grange syndrome Guide→ 1472 Liddle syndrome Guide→ 1473 Beta-ketothiolase deficiency Guide→ 1474 Leptin receptor deficiency Guide→ 1475 Vibratory urticaria Guide→ 1476 Trisomy 18 Guide→ 1477 Trisomy X Guide→ 1478 Distal arthrogryposis type 1 Guide→ 1479 Mal de Meleda Guide→ 1480 Autosomal recessive cerebellar ataxia type 1 Guide→ 1481 Langer mesomelic dysplasia Guide→ 1482 Autosomal recessive congenital stationary night blindness Guide→ 1483 Aromatase excess syndrome Guide→ 1484 Progressive osseous heteroplasia Guide→ 1485 Townes-Brocks Syndrome Guide→ 1486 Catecholaminergic polymorphic ventricular tachycardia Guide→ 1487 Dystonia 6 Guide→ 1488 Uncombable hair syndrome Guide→ 1489 Factor V deficiency Guide→ 1490 Complement factor I deficiency Guide→ 1491 Bernard-Soulier syndrome Guide→ 1492 Familial atrial fibrillation Guide→ 1493 Autosomal dominant congenital stationary night blindness Guide→ 1494 Prothrombin deficiency Guide→ 1495 Trisomy 13 Guide→ 1496 Greig cephalopolysyndactyly syndrome Guide→ 1497 Juvenile primary lateral sclerosis Guide→ 1498 UV-sensitive syndrome Guide→ 1499 Aminoacylase 1 deficiency Guide→ 1500 Spinocerebellar ataxia type 6 Guide→ 1501 Familial male-limited precocious puberty Guide→ 1502 Glycoprotein VI deficiency Guide→ 1503 PPM-X syndrome Guide→ 1504 Spondyloperipheral dysplasia Guide→ 1505 Juvenile primary osteoporosis Guide→ 1506 Arginine:glycine amidinotransferase deficiency Guide→ 1507 Histidinemia Guide→ 1508 Steatocystoma multiplex Guide→ 1509 Cri-du-chat syndrome Guide→ 1510 Fish-eye disease Guide→ 1511 Peeling skin syndrome 2 Guide→ 1512 Microcephaly, seizures, and developmental delay Guide→ 1513 Nonsyndromic congenital nail disorder 10 Guide→ 1514 Trimethylaminuria Guide→ 1515 Neutral lipid storage disease with myopathy Guide→ 1516 Warsaw breakage syndrome Guide→ 1517 Anonychia congenita Guide→ 1518 Palmoplantar keratoderma with deafness Guide→ 1519 Cole disease Guide→ 1520 Isolated hyperCKemia Guide→ 1521 X-linked severe combined immunodeficiency Guide→ 1522 Platyspondylic dysplasia, Torrance type Guide→ 1523 Globozoospermia Guide→ 1524 Malonyl-CoA decarboxylase deficiency Guide→ 1525 Deafness-infertility syndrome Guide→ 1526 North American Indian childhood cirrhosis Guide→ 1527 22q11.2 duplication Guide→ 1528 Aneurysms动脉瘤 Guide→ 1529 Arteriovenous Malformations动静脉畸形 Guide→ 1530 Carotid Artery Disease颈动脉疾病 Guide→ 1531 Endocarditis心内膜炎 Guide→ 1532 Pericardial Disorders心包疾病 Guide→ 1533 Shock休克 Guide→ 1534 Vascular Diseases血管疾病 Guide→ 1535 Blood Clots血栓 Guide→ 1536 Addison Disease艾迪生病 Guide→ 1537 Adrenal Gland Disorders肾上腺疾病 Guide→ 1538 Diabetes Insipidus尿崩症 Guide→ 1539 Hyperglycemia高血糖 Guide→ 1540 Pheochromocytoma嗜铬细胞瘤 Guide→ 1541 Pituitary Disorders垂体疾病 Guide→ 1542 Pituitary Tumors垂体肿瘤 Guide→ 1543 Breathing Problems呼吸问题 Guide→ 1544 Inhalation Injuries吸入性损伤 Guide→ 1545 Respiratory Failure呼吸衰竭 Guide→ 1546 Tracheal Disorders气管疾病 Guide→ 1547 Adhesions腹腔粘连 Guide→ 1548 Anal Disorders肛门疾病 Guide→ 1549 Bowel Incontinence大便失禁 Guide→ 1550 Colonic Polyps结肠息肉 Guide→ 1551 Eosinophilic Esophagitis嗜酸性粒细胞性食管炎 Guide→ 1552 Esophagus Disorders食管疾病 Guide→ 1553 Fistulas瘘 Guide→ 1554 Gastrointestinal Bleeding消化道出血 Guide→ 1555 Gluten Sensitivity麸质敏感 Guide→ 1556 Hiatal Hernia食管裂孔疝 Guide→ 1557 Intestinal Obstruction肠梗阻 Guide→ 1558 Malabsorption Syndromes吸收不良综合征 Guide→ 1559 Bile Duct Diseases胆管疾病 Guide→ 1560 Gallbladder Diseases胆囊疾病 Guide→ 1561 Pancreatic Diseases胰腺疾病 Guide→ 1562 Bladder Diseases膀胱疾病 Guide→ 1563 Kidney Failure肾衰竭 Guide→ 1564 Ureteral Disorders输尿管疾病 Guide→ 1565 Urethral Disorders尿道疾病 Guide→ 1566 Acoustic Neuroma听神经瘤 Guide→ 1567 Acute Flaccid Myelitis急性弛缓性脊髓炎 Guide→ 1568 Aphasia失语症 Guide→ 1569 Brachial Plexus Injuries臂丛神经损伤 Guide→ 1570 Chiari MalformationChiari 畸形 Guide→ 1571 Coma昏迷 Guide→ 1572 Dementia痴呆 Guide→ 1573 Dizziness and Vertigo头晕与眩晕 Guide→ 1574 Dystonia肌张力障碍 Guide→ 1575 Encephalitis脑炎 Guide→ 1576 Mild Cognitive Impairment轻度认知障碍 Guide→ 1577 Movement Disorders运动障碍 Guide→ 1578 Paralysis瘫痪 Guide→ 1579 Seizures癫痫发作 Guide→ 1580 Spinal Cord Injuries脊髓损伤 Guide→ 1581 Traumatic Brain Injury创伤性脑损伤 Guide→ 1582 Compulsive Gambling赌博障碍 Guide→ 1583 Learning Disabilities学习障碍 Guide→ 1584 Mood Disorders心境障碍 Guide→ 1585 Phobias恐惧症 Guide→ 1586 Psychotic Disorders精神病性障碍 Guide→ 1587 Self-Harm自伤 Guide→ 1588 Arthritis关节炎 Guide→ 1589 Bone Diseases骨病 Guide→ 1590 Bone Infections骨感染 Guide→ 1591 Cartilage Disorders软骨疾病 Guide→ 1592 Herniated Disk椎间盘突出 Guide→ 1593 Infectious Arthritis感染性关节炎 Guide→ 1594 Joint Disorders关节疾病 Guide→ 1595 Myositis肌炎 Guide→ 1596 Osteonecrosis骨坏死 Guide→ 1597 Rickets佝偻病 Guide→ 1598 Ankle Injuries and Disorders踝关节损伤与疾病 Guide→ 1599 Back Injuries背部损伤 Guide→ 1600 Foot Injuries and Disorders足部损伤与疾病 Guide→ 1601 Knee Injuries and Disorders膝关节损伤与疾病 Guide→ 1602 Sprains and Strains扭伤与拉伤 Guide→ 1603 Tendinitis肌腱炎 Guide→ 1604 Wrist Injuries and Disorders腕部损伤与疾病 Guide→ 1605 Athlete's Foot足癣（脚气） Guide→ 1606 Birthmarks胎记 Guide→ 1607 Blisters水疱 Guide→ 1608 Corns and Calluses鸡眼与胼胝 Guide→ 1609 Hair Loss脱发 Guide→ 1610 Itching瘙痒 Guide→ 1611 Pressure Sores压力性损伤 Guide→ 1612 Skin Infections皮肤感染 Guide→ 1613 Tinea Infections癣菌感染 Guide→ 1614 Warts疣 Guide→ 1615 Bird Flu禽流感 Guide→ 1616 C. diff Infections艰难梭菌感染 Guide→ 1617 Campylobacter Infections弯曲菌感染 Guide→ 1618 Chikungunya基孔肯雅热 Guide→ 1619 Cytomegalovirus Infections巨细胞病毒感染 Guide→ 1620 E. coli Infections大肠杆菌感染 Guide→ 1621 Ebola埃博拉病毒病 Guide→ 1622 Giardia Infections贾第虫感染 Guide→ 1623 Gonorrhea淋病 Guide→ 1624 H1N1 Flu (Swine Flu)甲型 H1N1 流感 Guide→ 1625 Listeria Infections李斯特菌感染 Guide→ 1626 Malaria疟疾 Guide→ 1627 Meningitis脑膜炎 Guide→ 1628 MRSA耐甲氧西林金黄色葡萄球菌感染 Guide→ 1629 Norovirus Infections诺如病毒感染 Guide→ 1630 Pneumocystis Infections肺孢子菌感染 Guide→ 1631 Rotavirus Infections轮状病毒感染 Guide→ 1632 Salmonella Infections沙门菌感染 Guide→ 1633 Valley Fever球孢子菌病 Guide→ 1634 West Nile Virus西尼罗病毒感染 Guide→ 1635 Yeast Infections念珠菌感染 Guide→ 1636 Zika Virus寨卡病毒感染 Guide→ 1637 Cervix Disorders宫颈疾病 Guide→ 1638 Ovarian Disorders卵巢疾病 Guide→ 1639 Pelvic Floor Disorders盆底疾病 Guide→ 1640 Uterine Diseases子宫疾病 Guide→ 1641 Vaginal Diseases阴道疾病 Guide→ 1642 Penis Disorders阴茎疾病 Guide→ 1643 Prostate Diseases前列腺疾病 Guide→ 1644 Testicular Disorders睾丸疾病 Guide→ 1645 Acute Lymphocytic Leukemia急性淋巴细胞白血病 Guide→ 1646 Acute Myeloid Leukemia急性髓系白血病 Guide→ 1647 Adrenal Gland Cancer肾上腺癌 Guide→ 1648 Anal Cancer肛门癌 Guide→ 1649 Brain Tumors脑肿瘤 Guide→ 1650 Carcinoid Tumors类癌肿瘤 Guide→ 1651 Chronic Lymphocytic Leukemia慢性淋巴细胞白血病 Guide→ 1652 Gallbladder Cancer胆囊癌 Guide→ 1653 Intestinal Cancer小肠癌 Guide→ 1654 Kaposi Sarcoma卡波西肉瘤 Guide→ 1655 Mesothelioma间皮瘤 Guide→ 1656 Oral Cancer口腔癌 Guide→ 1657 Skin Cancer皮肤癌 Guide→ 1658 Soft Tissue Sarcoma软组织肉瘤 Guide→ 1659 Testicular Cancer睾丸癌 Guide→ 1660 Thymus Cancer胸腺癌 Guide→ 1661 Vaginal Cancer阴道癌 Guide→ 1662 Vulvar Cancer外阴癌 Guide→ 1663 Amblyopia弱视 Guide→ 1664 Corneal Disorders角膜疾病 Guide→ 1665 Eye Infections眼部感染 Guide→ 1666 Eye Injuries眼外伤 Guide→ 1667 Eye Movement Disorders眼球运动障碍 Guide→ 1668 Optic Nerve Disorders视神经疾病 Guide→ 1669 Retinal Disorders视网膜疾病 Guide→ 1670 Bad Breath口臭 Guide→ 1671 Balance Problems平衡障碍 Guide→ 1672 Barotrauma气压伤 Guide→ 1673 Ear Disorders耳部疾病 Guide→ 1674 Mouth Disorders口腔疾病 Guide→ 1675 Nasal Cancer鼻腔癌 Guide→ 1676 Salivary Gland Disorders唾液腺疾病 Guide→ 1677 Taste and Smell Disorders味觉与嗅觉障碍 Guide→ 1678 Throat Disorders咽喉疾病 Guide→ 1679 Tooth Disorders牙齿疾病 Guide→ 1680 Voice Disorders声音障碍 Guide→ 1681 Autoimmune Diseases自身免疫性疾病 Guide→ 1682 Bleeding Disorders出血性疾病 Guide→ 1683 Bone Marrow Diseases骨髓疾病 Guide→ 1684 Eosinophilic Disorders嗜酸性粒细胞疾病 Guide→ 1685 Latex Allergy乳胶过敏 Guide→ 1686 Lymphatic Diseases淋巴系统疾病 Guide→ 1687 Lymphedema淋巴水肿 Guide→ 1688 Platelet Disorders血小板疾病 Guide→ 1689 Spleen Diseases脾脏疾病 Guide→