疾病百科 A–Z：症狀、檢查及治療

01高血壓Hypertension 健康指南 02高血壓心臟病Hypertensive Heart Disease 健康指南 03冠狀動脈疾病Coronary Artery Disease 健康指南 04心絞痛Angina 健康指南 05心肌梗死Heart Attack / Myocardial Infarction 健康指南 06心律失常Arrhythmia 健康指南 07心房顫動Atrial Fibrillation 健康指南 08心力衰竭Heart Failure 健康指南 09動脈粥樣硬化Atherosclerosis 健康指南 10外周動脈疾病Peripheral Artery Disease 健康指南 11深靜脈血栓Deep Vein Thrombosis 健康指南 12普通感冒Common Cold 健康指南 13急性咽炎Acute Pharyngitis 健康指南 14急性支氣管炎Acute Bronchitis 健康指南 15慢性支氣管炎Chronic bronchitis 健康指南 16慢性阻塞性肺疾病COPD 健康指南 17哮喘Asthma 健康指南 18肺炎Pneumonia 健康指南 19間質性肺疾病Interstitial Lung Diseases 健康指南 20肺氣腫Emphysema 健康指南 21支氣管擴張症Bronchiectasis 健康指南 22胸膜炎Pleurisy 健康指南 23胃食管反流病GERD 健康指南 24消化性潰瘍Peptic Ulcer Disease 健康指南 25腸易激綜合症Irritable Bowel Syndrome 健康指南 26便秘Constipation 健康指南 27代謝功能障礙相關脂肪性肝病MASLD 健康指南 28膽結石Gallstones 健康指南 29膽囊炎Cholecystitis 健康指南 30痔病Hemorrhoids 健康指南 312 型糖尿病Type 2 Diabetes 健康指南 321 型糖尿病Type 1 Diabetes 健康指南 33糖尿病視網膜病變Diabetic Retinopathy 健康指南 34甲狀腺功能亢進症Hyperthyroidism 健康指南 35甲狀腺功能減退症Hypothyroidism 健康指南 36痛風Gout 健康指南 37高膽固醇血症High Cholesterol / Hyperlipidemia 健康指南 38肥胖症Obesity 健康指南 39骨質酥鬆症Osteoporosis 健康指南 40尿路感染Urinary Tract Infection 健康指南 41短暫性腦缺血發作Transient Ischemic Attack 健康指南 42缺血性中風Ischemic Stroke 健康指南 43出血性中風Hemorrhagic Stroke 健康指南 44偏頭痛Migraine 健康指南 45緊張型頭痛Tension-Type Headache 健康指南 46三叉神經痛Trigeminal neuralgia 健康指南 47貝爾麻痹Bell Palsy 健康指南 48坐骨神經痛Sciatica 健康指南 49帕金森病Parkinson Disease 健康指南 50阿茲海默症Alzheimer Disease 健康指南 51癲癇Epilepsy 健康指南 52睡眠呼吸暫停Sleep Apnea 健康指南 53周圍神經病變Peripheral Neuropathy 健康指南 54Guillain-Barré syndromeGuillain-Barré syndrome 健康指南 55多發性硬化Multiple Sclerosis 健康指南 56重症肌無力Myasthenia Gravis 健康指南 57缺鐵性貧血Iron-Deficiency Anemia 健康指南 58免疫性血小板減少症Immune Thrombocytopenia 健康指南 59霍奇金淋巴瘤Hodgkin lymphoma 健康指南 60類風濕關節炎Rheumatoid Arthritis 健康指南 61強直性脊柱炎Ankylosing Spondylitis 健康指南 62系統性紅斑狼瘡Systemic Lupus Erythematosus 健康指南 63乾燥綜合症Sjogren Syndrome 健康指南 64銀屑病關節炎Psoriatic Arthritis 健康指南 65膿毒症Sepsis 健康指南 66嚴重過敏反應Anaphylaxis 健康指南 67闌尾炎Appendicitis 健康指南 68燒傷Burns 健康指南 69瘀傷Bruises 健康指南 70腎結石Kidney Stones 健康指南 71良性前列腺增生Benign Prostatic Hyperplasia 健康指南 72前列腺炎Prostatitis 健康指南 73精索靜脈曲張Varicocele 健康指南 74靜脈曲張Varicose Veins 健康指南 75蜂窩織炎Cellulitis 健康指南 76膿腫Abscess 健康指南 77甲狀腺癌Thyroid Cancer 健康指南 78腕管綜合症Carpal Tunnel Syndrome 健康指南 79網球肘Tennis Elbow 健康指南 80半月板損傷Meniscus Injury 健康指南 81關節脫位Dislocations 健康指南 82肩關節脫位Dislocated Shoulder 健康指南 83滑囊炎Bursitis 健康指南 84陰道炎Vaginitis 健康指南 85盆腔炎Pelvic Inflammatory Disease 健康指南 86子宮肌瘤Uterine Fibroids 健康指南 87卵巢囊腫Ovarian Cysts 健康指南 88多囊卵巢綜合症PCOS 健康指南 89子宮腺肌病Adenomyosis 健康指南 90圍絕經期與絕經Perimenopause and Menopause 健康指南 91異位妊娠Ectopic Pregnancy 健康指南 92原發性卵巢功能不全Primary Ovarian Insufficiency 健康指南 93子宮內膜異位症Endometriosis 健康指南 94手足口病Hand, Foot and Mouth Disease 健康指南 95蕁麻疹Urticaria 健康指南 96注意缺陷多動障礙ADHD 健康指南 97Kawasaki diseaseKawasaki disease 健康指南 98熱性驚厥Febrile Seizures 健康指南 99新生兒黃疸Neonatal Jaundice 健康指南 100腦性癱瘓Cerebral Palsy 健康指南 101乾眼病Dry Eye Disease 健康指南 102結膜炎Conjunctivitis 健康指南 103瞼板腺囊腫Chalazion 健康指南 104白內障Cataract 健康指南 105青光眼Glaucoma 健康指南 106老視Presbyopia 健康指南 107視網膜脫離Retinal Detachment 健康指南 108年齡相關性黃斑變性Age-Related Macular Degeneration 健康指南 109過敏性鼻炎Allergic Rhinitis 健康指南 110鼻竇炎Sinusitis 健康指南 111中耳炎Otitis Media 健康指南 112耳鳴Tinnitus 健康指南 113良性陣發性位置性眩暈BPPV 健康指南 114牙周炎Periodontitis 健康指南 115口腔潰瘍Canker Sores 健康指南 116齲齒Dental Caries 健康指南 117顳下頜關節紊亂TMJ Disorders 健康指南 118接觸性皮炎Contact Dermatitis 健康指南 119痤瘡Acne 健康指南 120玫瑰痤瘡Rosacea 健康指南 121帶狀皰疹Shingles 健康指南 122白癜風Vitiligo 健康指南 123銀屑病Psoriasis 健康指南 124斑禿Alopecia Areata 健康指南 125疥瘡Scabies 健康指南 126梅毒Syphilis 健康指南 127生殖器疣Genital warts 健康指南 128廣泛性焦慮障礙Generalized Anxiety Disorder 健康指南 129重性抑鬱症Major Depressive Disorder 健康指南 130強迫症Obsessive-Compulsive Disorder 健康指南 131驚恐障礙Panic Disorder 健康指南 132雙相障礙Bipolar Disorder 健康指南 133思覺失調Schizophrenia 健康指南 134神經性厭食症Anorexia Nervosa 健康指南 135創傷後應激障礙PTSD 健康指南 136人格障礙Personality Disorders 健康指南 137Behçet diseaseBehçet disease 健康指南 138巨細胞動脈炎Giant cell arteritis 健康指南 139肉芽腫性多血管炎Granulomatosis with polyangiitis 健康指南 140Systemic sclerodermaSystemic scleroderma 健康指南 141Antiphospholipid syndromeAntiphospholipid syndrome 健康指南 142纖維肌痛Fibromyalgia 健康指南 143流行性感冒Influenza 健康指南 144COVID-19COVID-19 健康指南 145水痘Chickenpox 健康指南 146流行性腮腺炎Mumps 健康指南 147幽門螺桿菌感染Helicobacter pylori Infections 健康指南 148乙型肝炎Hepatitis B 健康指南 149風疹Rubella 健康指南 150麻疹Measles 健康指南 151登革熱Dengue 健康指南 152結核病Tuberculosis 健康指南 153肺癌Lung Cancer 健康指南 154胃癌Stomach Cancer 健康指南 155大腸癌Colorectal Cancer 健康指南 156肝癌Liver Cancer 健康指南 157乳癌Breast Cancer 健康指南 158宮頸癌Cervical Cancer 健康指南 159前列腺癌Prostate Cancer 健康指南 160食管癌Esophageal Cancer 健康指南 161卵巢癌Ovarian Cancer 健康指南 162胰腺癌Pancreatic Cancer 健康指南 163Bladder cancerBladder cancer 健康指南 164腎癌Kidney Cancer 健康指南 165子宮內膜癌Endometrial Cancer 健康指南 166淋巴瘤Lymphoma 健康指南 167白血病Leukemia 健康指南 168Multiple myelomaMultiple myeloma 健康指南 169急性腎損傷Acute Kidney Injury 健康指南 170骨折Fractures 健康指南 171心臟驟停Sudden Cardiac Arrest 健康指南 172心臟瓣膜病Heart Valve Disease 健康指南 173心肌病Cardiomyopathy 健康指南 174中風Stroke 健康指南 175腦動脈瘤Brain Aneurysm 健康指南 176肺栓塞Pulmonary Embolism 健康指南 177主動脈瘤Aortic Aneurysm 健康指南 178雷諾現象Raynaud Phenomenon 健康指南 179體位性低血壓Orthostatic Hypotension 健康指南 180體位性心動過速綜合症POTS 健康指南 181糖尿病前期Prediabetes 健康指南 182妊娠期糖尿病Gestational Diabetes 健康指南 183代謝綜合症Metabolic Syndrome 健康指南 184橋本甲狀腺炎Hashimoto Thyroiditis 健康指南 185Graves 病Graves Disease 健康指南 186阻塞性睡眠呼吸暫停Obstructive Sleep Apnea 健康指南 187肺纖維化Pulmonary Fibrosis 健康指南 188肺動脈高壓Pulmonary Hypertension 健康指南 189胃炎Gastritis 健康指南 190克隆氏症Crohn Disease 健康指南 191潰瘍性大腸炎Ulcerative Colitis 健康指南 192乳糜瀉Celiac Disease 健康指南 193結腸憩室病Diverticular Disease 健康指南 194急性胃腸炎Gastroenteritis 健康指南 195丙型肝炎Hepatitis C 健康指南 196肝硬化Cirrhosis 健康指南 197胰腺炎Pancreatitis 健康指南 198遺傳性血色病Hemochromatosis 健康指南 199慢性腎病Chronic Kidney Disease 健康指南 200膀胱過度活動症Overactive Bladder 健康指南 201尿失禁Urinary Incontinence 健康指南 202間質性膀胱炎/膀胱疼痛綜合症Interstitial Cystitis 健康指南 203特發性震顫Essential Tremor 健康指南 204孤獨症譜系障礙Autism Spectrum Disorder 健康指南 205失眠障礙Insomnia Disorder 健康指南 206骨關節炎Osteoarthritis 健康指南 207下背痛Low Back Pain 健康指南 208凍結肩Frozen Shoulder 健康指南 209肩袖損傷Rotator Cuff Injury 健康指南 210足底筋膜炎Plantar Fasciitis 健康指南 211跟腱病Achilles Tendinopathy 健康指南 212前交叉韌帶損傷ACL Injury 健康指南 213腦震蕩Concussion 健康指南 214複雜區域疼痛綜合症CRPS 健康指南 215特應性皮炎Atopic Dermatitis 健康指南 216皮膚真菌感染Fungal Skin Infection 健康指南 217長新冠Long COVID 健康指南 218HIV 感染與艾滋病HIV/AIDS 健康指南 219人乳頭瘤病毒感染HPV Infection 健康指南 220單純皰疹病毒感染Herpes Simplex 健康指南 221萊姆病Lyme Disease 健康指南 222傳染性單核細胞增多症Infectious Mononucleosis 健康指南 223外陰痛Vulvodynia 健康指南 224經前綜合症PMS 健康指南 225經前煩躁障礙PMDD 健康指南 226女性不孕症Female Infertility 健康指南 227男性不育症Male Infertility 健康指南 228勃起功能障礙Erectile Dysfunction 健康指南 229早洩Premature Ejaculation 健康指南 230男性性腺功能減退症Male Hypogonadism 健康指南 231陰莖硬結症Peyronie Disease 健康指南 232子癇前期Preeclampsia 健康指南 233產後抑鬱症Postpartum Depression 健康指南 234黑色素瘤Melanoma 健康指南 235近視Myopia 健康指南 236圓錐角膜Keratoconus 健康指南 237葡萄膜炎Uveitis 健康指南 238聽力損失Hearing Loss 健康指南 239扁桃體炎Tonsillitis 健康指南 240維生素 B12 缺乏性貧血Vitamin B12 Deficiency Anemia 健康指南 241鐮狀細胞病Sickle Cell Disease 健康指南 242地中海貧血Thalassemia 健康指南 243血友病Hemophilia 健康指南 244中性粒細胞減少症Neutropenia 健康指南 245食物過敏Food Allergy 健康指南 246呼吸道合胞病毒感染RSV Infection 健康指南 247哮吼Croup 健康指南 248先天性心臟病Congenital Heart Disease 健康指南 249青少年特發性脊柱側彎Adolescent Idiopathic Scoliosis 健康指南 250兒童夜間遺尿Nocturnal Enuresis 健康指南 251發育性髖關節發育不良Developmental Dysplasia of the Hip 健康指南 252霍亂Cholera 健康指南 253進行性核上性麻痹Progressive supranuclear palsy 健康指南 254天皰瘡Pemphigus 健康指南 255風濕性多肌痛Polymyalgia rheumatica 健康指南 256流產Abortion 健康指南 257低體溫Hypothermia 健康指南 258肉毒中毒Botulism 健康指南 259二尖瓣脫垂Mitral valve prolapse 健康指南 260絕經期Menopause 健康指南 261脊柱裂Spina bifida 健康指南 262暈動病Motion sickness 健康指南 263隱孢子蟲病Cryptosporidiosis 健康指南 264血管炎Vasculitis 健康指南 265譫妄Delirium 健康指南 266弗里德賴希共濟失調Friedreich ataxia 健康指南 267脊柱側凸Scoliosis 健康指南 268毛滴蟲病Trichomoniasis 健康指南 269維生素D缺乏Vitamin D deficiency 健康指南 270Tourette綜合症Tourette syndrome 健康指南 271囊性纖維化Cystic fibrosis 健康指南 272椎管狹窄Spinal stenosis 健康指南 273苯丙酮尿症Phenylketonuria 健康指南 274腦白質營養不良Leukodystrophies 健康指南 275膿皰病Impetigo 健康指南 276化膿性汗腺炎Hidradenitis suppurativa 健康指南 277鼠疫Plague 健康指南 278炭疽Anthrax 健康指南 279結節病Sarcoidosis 健康指南 280貓抓病Cat-scratch disease 健康指南 281百日咳Whooping cough 健康指南 282破傷風Tetanus 健康指南 283白喉Diphtheria 健康指南 284軍團病Legionnaires disease 健康指南 285腦膜炎球菌病Meningococcal disease 健康指南 286狂犬病Rabies 健康指南 287肌萎縮側索硬化Amyotrophic lateral sclerosis 健康指南 288脊肌萎縮症Spinal muscular atrophy 健康指南 289天花Smallpox 健康指南 290猴痘Mpox 健康指南 291肌營養不良Muscular dystrophy 健康指南 292曲霉病Aspergillosis 健康指南 293組織胞漿菌病Histoplasmosis 健康指南 294美洲錐蟲病Chagas disease 健康指南 295利什曼病Leishmaniasis 健康指南 296α-1-抗胰蛋白酶缺乏Alpha-1-antitrypsin deficiency 健康指南 297弓形蟲病Toxoplasmosis 健康指南 298成骨不全Osteogenesis imperfecta 健康指南 299乳糖不耐受Lactose intolerance 健康指南 300Wilson病Wilson disease 健康指南 301脫水Dehydration 健康指南 302澱粉樣變性Amyloidosis 健康指南 303腦積水Hydrocephalus 健康指南 304馬凡綜合症Marfan syndrome 健康指南 305Ehlers-Danlos綜合症Ehlers-Danlos syndrome 健康指南 306Reye綜合症Reye syndrome 健康指南 307結節性硬化症Tuberous sclerosis 健康指南 308Usher綜合症Usher syndrome 健康指南 309Turner綜合症Turner syndrome 健康指南 310Klinefelter綜合症Klinefelter syndrome 健康指南 311Prader-Willi綜合症Prader-Willi syndrome 健康指南 312Rett綜合症Rett syndrome 健康指南 313口乾燥症Xerostomia 健康指南 314散光Astigmatism 健康指南 315牙周病Periodontal disease 健康指南 316Myhre syndromeMyhre syndrome 健康指南 317Aicardi-Goutières syndromeAicardi-Goutières syndrome 健康指南 318Abdominal wall defectAbdominal wall defect 健康指南 319Pol III-related leukodystrophyPol III-related leukodystrophy 健康指南 32015q11-q13 duplication syndrome15q11-q13 duplication syndrome 健康指南 321Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease 健康指南 322Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophyAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 健康指南 323Multiminicore diseaseMultiminicore disease 健康指南 324Epilepsy-aphasia spectrumEpilepsy-aphasia spectrum 健康指南 325Wolfram syndromeWolfram syndrome 健康指南 326Primary ciliary dyskinesiaPrimary ciliary dyskinesia 健康指南 327Langerhans cell histiocytosisLangerhans cell histiocytosis 健康指南 328X-linked adrenoleukodystrophyX-linked adrenoleukodystrophy 健康指南 329Noonan syndromeNoonan syndrome 健康指南 330Noonan syndrome with multiple lentiginesNoonan syndrome with multiple lentigines 健康指南 331Xeroderma pigmentosumXeroderma pigmentosum 健康指南 332Nonsyndromic holoprosencephalyNonsyndromic holoprosencephaly 健康指南 333Caudal regression syndromeCaudal regression syndrome 健康指南 334Waldenström macroglobulinemiaWaldenström macroglobulinemia 健康指南 335Focal dermal hypoplasiaFocal dermal hypoplasia 健康指南 336CHARGE syndromeCHARGE syndrome 健康指南 337Congenital generalized lipodystrophyCongenital generalized lipodystrophy 健康指南 338TRNT1 deficiencyTRNT1 deficiency 健康指南 339TUBB4A-related leukodystrophyTUBB4A-related leukodystrophy 健康指南 340Ataxia with oculomotor apraxiaAtaxia with oculomotor apraxia 健康指南 341Barth syndromeBarth syndrome 健康指南 342Carpenter syndromeCarpenter syndrome 健康指南 343Bohring-Opitz syndromeBohring-Opitz syndrome 健康指南 344Juvenile idiopathic arthritisJuvenile idiopathic arthritis 健康指南 345Nicolaides-Baraitser syndromeNicolaides-Baraitser syndrome 健康指南 346Brain-lung-thyroid syndromeBrain-lung-thyroid syndrome 健康指南 347Metachromatic leukodystrophyMetachromatic leukodystrophy 健康指南 348Mucopolysaccharidosis type IIMucopolysaccharidosis type II 健康指南 349Hajdu-Cheney syndromeHajdu-Cheney syndrome 健康指南 350Dystrophic epidermolysis bullosaDystrophic epidermolysis bullosa 健康指南 351LeprosyLeprosy 健康指南 352Collagen VI-related dystrophyCollagen VI-related dystrophy 健康指南 353McCune-Albright syndromeMcCune-Albright syndrome 健康指南 354RAB18 deficiencyRAB18 deficiency 健康指南 355Dandy-Walker malformationDandy-Walker malformation 健康指南 356Klippel-Feil syndromeKlippel-Feil syndrome 健康指南 357Septo-optic dysplasiaSepto-optic dysplasia 健康指南 358Transthyretin amyloidosisTransthyretin amyloidosis 健康指南 359Dyskeratosis congenitaDyskeratosis congenita 健康指南 360Beta-propeller protein-associated neurodegenerationBeta-propeller protein-associated neurodegeneration 健康指南 361Costello syndromeCostello syndrome 健康指南 362Shwachman-Diamond syndromeShwachman-Diamond syndrome 健康指南 363Freeman-Sheldon syndromeFreeman-Sheldon syndrome 健康指南 36448,XXYY syndrome48,XXYY syndrome 健康指南 365Hereditary paraganglioma-pheochromocytomaHereditary paraganglioma-pheochromocytoma 健康指南 366PLCG2-associated antibody deficiency and immune dysregulationPLCG2-associated antibody deficiency and immune dysregulation 健康指南 367Lysosomal acid lipase deficiencyLysosomal acid lipase deficiency 健康指南 368Sturge-Weber syndromeSturge-Weber syndrome 健康指南 369Familial thoracic aortic aneurysm and dissectionFamilial thoracic aortic aneurysm and dissection 健康指南 370SialidosisSialidosis 健康指南 37117 alpha-hydroxylase/17,20-lyase deficiency17 alpha-hydroxylase/17,20-lyase deficiency 健康指南 372Carnitine palmitoyltransferase II deficiencyCarnitine palmitoyltransferase II deficiency 健康指南 37322q11.2 deletion syndrome22q11.2 deletion syndrome 健康指南 374Chronic granulomatous diseaseChronic granulomatous disease 健康指南 375Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndromeHereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 健康指南 376Alcohol use disorderAlcohol use disorder 健康指南 377Glycogen storage disease type IVGlycogen storage disease type IV 健康指南 378Cutis laxaCutis laxa 健康指南 379Maturity-onset diabetes of the youngMaturity-onset diabetes of the young 健康指南 380Loeys-Dietz syndromeLoeys-Dietz syndrome 健康指南 381Hennekam syndromeHennekam syndrome 健康指南 382Epidermolysis bullosa simplexEpidermolysis bullosa simplex 健康指南 383Carney complexCarney complex 健康指南 384Familial adenomatous polyposisFamilial adenomatous polyposis 健康指南 385Dupuytren contractureDupuytren contracture 健康指南 386Neuromyelitis opticaNeuromyelitis optica 健康指南 387Histiocytosis-lymphadenopathy plus syndromeHistiocytosis-lymphadenopathy plus syndrome 健康指南 388Lipoid proteinosisLipoid proteinosis 健康指南 389Mucopolysaccharidosis type IIIMucopolysaccharidosis type III 健康指南 390Spastic paraplegia type 49Spastic paraplegia type 49 健康指南 391Cyclic vomiting syndromeCyclic vomiting syndrome 健康指南 392Central core diseaseCentral core disease 健康指南 393PorphyriaPorphyria 健康指南 394Cartilage-hair hypoplasiaCartilage-hair hypoplasia 健康指南 395OsteopetrosisOsteopetrosis 健康指南 396Giant congenital melanocytic nevusGiant congenital melanocytic nevus 健康指南 397Poikiloderma with neutropeniaPoikiloderma with neutropenia 健康指南 398Mevalonate kinase deficiencyMevalonate kinase deficiency 健康指南 399Mucopolysaccharidosis type IMucopolysaccharidosis type I 健康指南 400GM1 gangliosidosisGM1 gangliosidosis 健康指南 401Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndromeImmune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome 健康指南 40249,XXXXY syndrome49,XXXXY syndrome 健康指南 403Heterotaxy syndromeHeterotaxy syndrome 健康指南 404Woodhouse-Sakati syndromeWoodhouse-Sakati syndrome 健康指南 405Bannayan-Riley-Ruvalcaba syndromeBannayan-Riley-Ruvalcaba syndrome 健康指南 406TrichothiodystrophyTrichothiodystrophy 健康指南 407Pallister-Killian mosaic syndromePallister-Killian mosaic syndrome 健康指南 408Hypermanganesemia with dystoniaHypermanganesemia with dystonia 健康指南 409Lacrimo-auriculo-dento-digital syndromeLacrimo-auriculo-dento-digital syndrome 健康指南 410Hereditary neuralgic amyotrophyHereditary neuralgic amyotrophy 健康指南 411Pitt-Hopkins syndromePitt-Hopkins syndrome 健康指南 412Combined pituitary hormone deficiencyCombined pituitary hormone deficiency 健康指南 413Hereditary cerebral amyloid angiopathyHereditary cerebral amyloid angiopathy 健康指南 414Down syndromeDown syndrome 健康指南 415Tyrosine hydroxylase deficiencyTyrosine hydroxylase deficiency 健康指南 416Lennox-Gastaut syndromeLennox-Gastaut syndrome 健康指南 417Pontocerebellar hypoplasiaPontocerebellar hypoplasia 健康指南 418Zellweger spectrum disorderZellweger spectrum disorder 健康指南 419Osteoglophonic dysplasiaOsteoglophonic dysplasia 健康指南 420Ankyloblepharon-ectodermal defects-cleft lip/palate syndromeAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome 健康指南 421Vici syndromeVici syndrome 健康指南 422Glycogen storage disease type IGlycogen storage disease type I 健康指南 423Mitochondrial complex V deficiencyMitochondrial complex V deficiency 健康指南 424SLC4A1-associated distal renal tubular acidosisSLC4A1-associated distal renal tubular acidosis 健康指南 425Pearson syndromePearson syndrome 健康指南 426Adult-onset leukoencephalopathy with axonal spheroids and pigmented gliaAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia 健康指南 427Dyserythropoietic anemia and thrombocytopeniaDyserythropoietic anemia and thrombocytopenia 健康指南 428Methylmalonic acidemia with homocystinuriaMethylmalonic acidemia with homocystinuria 健康指南 429DOORS syndromeDOORS syndrome 健康指南 430Arterial tortuosity syndromeArterial tortuosity syndrome 健康指南 431Juvenile polyposis syndromeJuvenile polyposis syndrome 健康指南 432Paroxysmal nocturnal hemoglobinuriaParoxysmal nocturnal hemoglobinuria 健康指南 433Leigh syndromeLeigh syndrome 健康指南 434Diamond-Blackfan anemiaDiamond-Blackfan anemia 健康指南 435Parathyroid cancerParathyroid cancer 健康指南 436Spondyloepiphyseal dysplasia congenitaSpondyloepiphyseal dysplasia congenita 健康指南 437Blau syndromeBlau syndrome 健康指南 438Familial partial lipodystrophyFamilial partial lipodystrophy 健康指南 439Amelogenesis imperfectaAmelogenesis imperfecta 健康指南 440CDKL5 deficiency disorderCDKL5 deficiency disorder 健康指南 441CitrullinemiaCitrullinemia 健康指南 442Familial isolated pituitary adenomaFamilial isolated pituitary adenoma 健康指南 443Oral-facial-digital syndromeOral-facial-digital syndrome 健康指南 444Schinzel-Giedion syndromeSchinzel-Giedion syndrome 健康指南 445Task-specific focal dystoniaTask-specific focal dystonia 健康指南 446Hereditary pancreatitisHereditary pancreatitis 健康指南 447Williams syndromeWilliams syndrome 健康指南 448Cowden syndromeCowden syndrome 健康指南 449CASK-related intellectual disabilityCASK-related intellectual disability 健康指南 450Primary coenzyme Q10 deficiencyPrimary coenzyme Q10 deficiency 健康指南 451Deoxyguanosine kinase deficiencyDeoxyguanosine kinase deficiency 健康指南 452Familial candidiasisFamilial candidiasis 健康指南 453Wolff-Parkinson-White syndromeWolff-Parkinson-White syndrome 健康指南 454Congenital dyserythropoietic anemiaCongenital dyserythropoietic anemia 健康指南 4559q22.3 microdeletion9q22.3 microdeletion 健康指南 456Seasonal affective disorderSeasonal affective disorder 健康指南 457Lattice corneal dystrophy type IILattice corneal dystrophy type II 健康指南 458Genetic epilepsy with febrile seizures plusGenetic epilepsy with febrile seizures plus 健康指南 459Systemic mastocytosisSystemic mastocytosis 健康指南 460Multiple pterygium syndromeMultiple pterygium syndrome 健康指南 461Danon diseaseDanon disease 健康指南 462Isolated sulfite oxidase deficiencyIsolated sulfite oxidase deficiency 健康指南 463Opitz G/BBB syndromeOpitz G/BBB syndrome 健康指南 464Fanconi anemiaFanconi anemia 健康指南 465DICER1 syndromeDICER1 syndrome 健康指南 466Peters plus syndromePeters plus syndrome 健康指南 467Poland syndromePoland syndrome 健康指南 468Primary sclerosing cholangitisPrimary sclerosing cholangitis 健康指南 469Hyaline fibromatosis syndromeHyaline fibromatosis syndrome 健康指南 470Mainzer-Saldino syndromeMainzer-Saldino syndrome 健康指南 471Progressive familial heart blockProgressive familial heart block 健康指南 472Apert syndromeApert syndrome 健康指南 473Nijmegen breakage syndromeNijmegen breakage syndrome 健康指南 474African iron overloadAfrican iron overload 健康指南 475Cleidocranial dysplasiaCleidocranial dysplasia 健康指南 476Epidermal nevusEpidermal nevus 健康指南 477Facioscapulohumeral muscular dystrophyFacioscapulohumeral muscular dystrophy 健康指南 478Kaufman oculocerebrofacial syndromeKaufman oculocerebrofacial syndrome 健康指南 479Netherton syndromeNetherton syndrome 健康指南 480Joubert syndromeJoubert syndrome 健康指南 481Megalencephalic leukoencephalopathy with subcortical cystsMegalencephalic leukoencephalopathy with subcortical cysts 健康指南 482Hartsfield syndromeHartsfield syndrome 健康指南 483Alpha-N-acetylgalactosaminidase deficiencyAlpha-N-acetylgalactosaminidase deficiency 健康指南 484Cerebrotendinous xanthomatosisCerebrotendinous xanthomatosis 健康指南 485Campomelic dysplasiaCampomelic dysplasia 健康指南 486Cytochrome P450 oxidoreductase deficiencyCytochrome P450 oxidoreductase deficiency 健康指南 487Mycosis fungoidesMycosis fungoides 健康指南 488Fraser syndromeFraser syndrome 健康指南 489Branchio-oculo-facial syndromeBranchio-oculo-facial syndrome 健康指南 490Congenital central hypoventilation syndromeCongenital central hypoventilation syndrome 健康指南 491Megalencephaly-capillary malformation syndromeMegalencephaly-capillary malformation syndrome 健康指南 492Junctional epidermolysis bullosaJunctional epidermolysis bullosa 健康指南 493Niemann-Pick diseaseNiemann-Pick disease 健康指南 494CystinosisCystinosis 健康指南 495Triple A syndromeTriple A syndrome 健康指南 496Stickler syndromeStickler syndrome 健康指南 497Mabry syndromeMabry syndrome 健康指南 498BAP1 tumor predisposition syndromeBAP1 tumor predisposition syndrome 健康指南 499PMM2-congenital disorder of glycosylationPMM2-congenital disorder of glycosylation 健康指南 500Timothy syndromeTimothy syndrome 健康指南 501Hereditary hemorrhagic telangiectasiaHereditary hemorrhagic telangiectasia 健康指南 502Esophageal atresia/tracheoesophageal fistulaEsophageal atresia/tracheoesophageal fistula 健康指南 503Familial lipoprotein lipase deficiencyFamilial lipoprotein lipase deficiency 健康指南 504Lateral meningocele syndromeLateral meningocele syndrome 健康指南 505Cardiofaciocutaneous syndromeCardiofaciocutaneous syndrome 健康指南 506Pelizaeus-Merzbacher diseasePelizaeus-Merzbacher disease 健康指南 507WAGR syndromeWAGR syndrome 健康指南 508Mucopolysaccharidosis type VIMucopolysaccharidosis type VI 健康指南 509L1 syndromeL1 syndrome 健康指南 510Mosaic variegated aneuploidy syndromeMosaic variegated aneuploidy syndrome 健康指南 511Distal 18q deletion syndromeDistal 18q deletion syndrome 健康指南 512Critical congenital heart diseaseCritical congenital heart disease 健康指南 5137q11.23 duplication syndrome7q11.23 duplication syndrome 健康指南 514Anhidrotic ectodermal dysplasia with immune deficiencyAnhidrotic ectodermal dysplasia with immune deficiency 健康指南 515Jacobsen syndromeJacobsen syndrome 健康指南 516Dementia with Lewy bodiesDementia with Lewy bodies 健康指南 517Multiple sulfatase deficiencyMultiple sulfatase deficiency 健康指南 518Multiple endocrine neoplasiaMultiple endocrine neoplasia 健康指南 519Cerebro-facio-thoracic dysplasiaCerebro-facio-thoracic dysplasia 健康指南 520Caffey diseaseCaffey disease 健康指南 521IMAGe syndromeIMAGe syndrome 健康指南 522Dilated cardiomyopathy with ataxia syndromeDilated cardiomyopathy with ataxia syndrome 健康指南 523AchondroplasiaAchondroplasia 健康指南 524ColobomaColoboma 健康指南 525Mucolipidosis type IVMucolipidosis type IV 健康指南 5261q21.1 microdeletion1q21.1 microdeletion 健康指南 527Constitutional mismatch repair deficiency syndromeConstitutional mismatch repair deficiency syndrome 健康指南 528Pseudohypoaldosteronism type 1Pseudohypoaldosteronism type 1 健康指南 529Infantile-onset ascending hereditary spastic paralysisInfantile-onset ascending hereditary spastic paralysis 健康指南 530Duchenne and Becker muscular dystrophyDuchenne and Becker muscular dystrophy 健康指南 531MYH9-related disorderMYH9-related disorder 健康指南 532Glycogen storage disease type VIIGlycogen storage disease type VII 健康指南 5333-M syndrome3-M syndrome 健康指南 534Nonsyndromic hearing lossNonsyndromic hearing loss 健康指南 535X-linked lymphoproliferative diseaseX-linked lymphoproliferative disease 健康指南 5361q21.1 microduplication1q21.1 microduplication 健康指南 537Phosphoglycerate dehydrogenase deficiencyPhosphoglycerate dehydrogenase deficiency 健康指南 538Triosephosphate isomerase deficiencyTriosephosphate isomerase deficiency 健康指南 539Boucher-Neuhäuser syndromeBoucher-Neuhäuser syndrome 健康指南 540CHOPS syndromeCHOPS syndrome 健康指南 541Snijders Blok-Campeau syndromeSnijders Blok-Campeau syndrome 健康指南 542Andermann syndromeAndermann syndrome 健康指南 543Hirschsprung diseaseHirschsprung disease 健康指南 544CLPB deficiencyCLPB deficiency 健康指南 545Saul-Wilson syndromeSaul-Wilson syndrome 健康指南 546Autosomal dominant sleep-related hypermotor epilepsyAutosomal dominant sleep-related hypermotor epilepsy 健康指南 5473-beta-hydroxysteroid dehydrogenase deficiency3-beta-hydroxysteroid dehydrogenase deficiency 健康指南 548SitosterolemiaSitosterolemia 健康指南 549Familial dysautonomiaFamilial dysautonomia 健康指南 550TyrosinemiaTyrosinemia 健康指南 551Stevens-Johnson syndrome/toxic epidermal necrolysisStevens-Johnson syndrome/toxic epidermal necrolysis 健康指南 552Cold-induced sweating syndromeCold-induced sweating syndrome 健康指南 553Geleophysic dysplasiaGeleophysic dysplasia 健康指南 55448,XXXY syndrome48,XXXY syndrome 健康指南 555Wiedemann-Rautenstrauch syndromeWiedemann-Rautenstrauch syndrome 健康指南 556Mucopolysaccharidosis type VIIMucopolysaccharidosis type VII 健康指南 557X-linked chondrodysplasia punctata 2X-linked chondrodysplasia punctata 2 健康指南 558Fukuyama congenital muscular dystrophyFukuyama congenital muscular dystrophy 健康指南 559Familial hypertrophic cardiomyopathyFamilial hypertrophic cardiomyopathy 健康指南 560Gastrointestinal stromal tumorGastrointestinal stromal tumor 健康指南 561Progressive external ophthalmoplegiaProgressive external ophthalmoplegia 健康指南 562CLN8 diseaseCLN8 disease 健康指南 563Gaucher diseaseGaucher disease 健康指南 564PACS1 syndromePACS1 syndrome 健康指南 565SOST-related sclerosing bone dysplasiaSOST-related sclerosing bone dysplasia 健康指南 566Moebius syndromeMoebius syndrome 健康指南 567STAC3 disorderSTAC3 disorder 健康指南 568LAMA2-related muscular dystrophyLAMA2-related muscular dystrophy 健康指南 569Mitochondrial complex I deficiencyMitochondrial complex I deficiency 健康指南 570Familial paroxysmal kinesigenic dyskinesiaFamilial paroxysmal kinesigenic dyskinesia 健康指南 571Hereditary neuropathy with liability to pressure palsiesHereditary neuropathy with liability to pressure palsies 健康指南 572Schizoaffective disorderSchizoaffective disorder 健康指南 573Trichorhinophalangeal syndrome type IITrichorhinophalangeal syndrome type II 健康指南 574Cantú syndromeCantú syndrome 健康指南 575Spastic paraplegia type 15Spastic paraplegia type 15 健康指南 576FarsightednessFarsightedness 健康指南 577Riboflavin transporter deficiency neuronopathyRiboflavin transporter deficiency neuronopathy 健康指南 578Congenital hypothyroidismCongenital hypothyroidism 健康指南 579Von Hippel-Lindau syndromeVon Hippel-Lindau syndrome 健康指南 580Leukoencephalopathy with thalamus and brainstem involvement and high lactateLeukoencephalopathy with thalamus and brainstem involvement and high lactate 健康指南 581Autosomal dominant hypocalcemiaAutosomal dominant hypocalcemia 健康指南 582Congenital fibrosis of the extraocular musclesCongenital fibrosis of the extraocular muscles 健康指南 583Pelizaeus-Merzbacher-like disease type 1Pelizaeus-Merzbacher-like disease type 1 健康指南 584Wolf-Hirschhorn syndromeWolf-Hirschhorn syndrome 健康指南 585Rabson-Mendenhall syndromeRabson-Mendenhall syndrome 健康指南 586Congenital fiber-type disproportionCongenital fiber-type disproportion 健康指南 587DOCK8 immunodeficiency syndromeDOCK8 immunodeficiency syndrome 健康指南 588Chediak-Higashi syndromeChediak-Higashi syndrome 健康指南 589Klippel-Trenaunay syndromeKlippel-Trenaunay syndrome 健康指南 590Kindler epidermolysis bullosaKindler epidermolysis bullosa 健康指南 591Darier diseaseDarier disease 健康指南 592PGM3-congenital disorder of glycosylationPGM3-congenital disorder of glycosylation 健康指南 593Leukoencephalopathy with vanishing white matterLeukoencephalopathy with vanishing white matter 健康指南 594Dent diseaseDent disease 健康指南 595Pachyonychia congenitaPachyonychia congenita 健康指南 596Thrombotic thrombocytopenic purpuraThrombotic thrombocytopenic purpura 健康指南 597Schimke immuno-osseous dysplasiaSchimke immuno-osseous dysplasia 健康指南 598Nonketotic hyperglycinemiaNonketotic hyperglycinemia 健康指南 599Fatty acid hydroxylase-associated neurodegenerationFatty acid hydroxylase-associated neurodegeneration 健康指南 600Limb-girdle muscular dystrophyLimb-girdle muscular dystrophy 健康指南 601Nonsyndromic paragangliomaNonsyndromic paraganglioma 健康指南 602McLeod neuroacanthocytosis syndromeMcLeod neuroacanthocytosis syndrome 健康指南 603Epilepsy of infancy with migrating focal seizuresEpilepsy of infancy with migrating focal seizures 健康指南 604AlkaptonuriaAlkaptonuria 健康指南 605McKusick-Kaufman syndromeMcKusick-Kaufman syndrome 健康指南 606Oculodentodigital dysplasiaOculodentodigital dysplasia 健康指南 607Desmoid tumorDesmoid tumor 健康指南 608Hereditary sensory and autonomic neuropathy type IIHereditary sensory and autonomic neuropathy type II 健康指南 609Atypical hemolytic-uremic syndromeAtypical hemolytic-uremic syndrome 健康指南 610Dowling-Degos diseaseDowling-Degos disease 健康指南 611X-linked myotubular myopathyX-linked myotubular myopathy 健康指南 612Coats plus syndromeCoats plus syndrome 健康指南 613Gorlin syndromeGorlin syndrome 健康指南 614Sjögren-Larsson syndromeSjögren-Larsson syndrome 健康指南 615GalactosialidosisGalactosialidosis 健康指南 616Myotonic dystrophyMyotonic dystrophy 健康指南 617Free sialic acid storage disorderFree sialic acid storage disorder 健康指南 618Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosisHereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 健康指南 619Schwartz-Jampel syndromeSchwartz-Jampel syndrome 健康指南 620Congenital anomalies of kidney and urinary tractCongenital anomalies of kidney and urinary tract 健康指南 621STXBP1 encephalopathySTXBP1 encephalopathy 健康指南 622Metatropic dysplasiaMetatropic dysplasia 健康指南 623Swyer syndromeSwyer syndrome 健康指南 624Opioid addictionOpioid addiction 健康指南 625Aicardi syndromeAicardi syndrome 健康指南 626Glycogen storage disease type IXGlycogen storage disease type IX 健康指南 627Stüve-Wiedemann syndromeStüve-Wiedemann syndrome 健康指南 628Spinal muscular atrophy with progressive myoclonic epilepsySpinal muscular atrophy with progressive myoclonic epilepsy 健康指南 629Megacystis-microcolon-intestinal hypoperistalsis syndromeMegacystis-microcolon-intestinal hypoperistalsis syndrome 健康指南 630GLUT1 deficiency syndromeGLUT1 deficiency syndrome 健康指南 631Autosomal dominant optic atrophy and cataractAutosomal dominant optic atrophy and cataract 健康指南 632Xia-Gibbs syndromeXia-Gibbs syndrome 健康指南 63321-hydroxylase deficiency21-hydroxylase deficiency 健康指南 634NarcolepsyNarcolepsy 健康指南 63510q26 deletion syndrome10q26 deletion syndrome 健康指南 636Holt-Oram syndromeHolt-Oram syndrome 健康指南 637Craniofacial microsomiaCraniofacial microsomia 健康指南 638Malignant hyperthermiaMalignant hyperthermia 健康指南 639AbetalipoproteinemiaAbetalipoproteinemia 健康指南 640Mowat-Wilson syndromeMowat-Wilson syndrome 健康指南 641Yuan-Harel-Lupski syndromeYuan-Harel-Lupski syndrome 健康指南 642Frontotemporal dementia with parkinsonism-17Frontotemporal dementia with parkinsonism-17 健康指南 643VACTERL associationVACTERL association 健康指南 644Spondyloenchondrodysplasia with immune dysregulationSpondyloenchondrodysplasia with immune dysregulation 健康指南 645Autosomal dominant leukodystrophy with autonomic diseaseAutosomal dominant leukodystrophy with autonomic disease 健康指南 646Congenital cataracts, facial dysmorphism, and neuropathyCongenital cataracts, facial dysmorphism, and neuropathy 健康指南 647Otopalatodigital syndrome type 2Otopalatodigital syndrome type 2 健康指南 648Proteus syndromeProteus syndrome 健康指南 649Thiopurine S-methyltransferase deficiencyThiopurine S-methyltransferase deficiency 健康指南 650Craniofrontonasal syndromeCraniofrontonasal syndrome 健康指南 651Fragile X-associated tremor/ataxia syndromeFragile X-associated tremor/ataxia syndrome 健康指南 652CholangiocarcinomaCholangiocarcinoma 健康指南 653Branchiootorenal/branchiootic syndromeBranchiootorenal/branchiootic syndrome 健康指南 654Mandibulofacial dysostosis with microcephalyMandibulofacial dysostosis with microcephaly 健康指南 655Paget disease of bonePaget disease of bone 健康指南 656Inclusion body myopathy with early-onset Paget disease and frontotemporal dementiaInclusion body myopathy with early-onset Paget disease and frontotemporal dementia 健康指南 657Autoimmune lymphoproliferative syndromeAutoimmune lymphoproliferative syndrome 健康指南 658Dihydrolipoamide dehydrogenase deficiencyDihydrolipoamide dehydrogenase deficiency 健康指南 659Idiopathic pulmonary fibrosisIdiopathic pulmonary fibrosis 健康指南 660Isolated growth hormone deficiencyIsolated growth hormone deficiency 健康指南 661Chronic myeloid leukemiaChronic myeloid leukemia 健康指南 662Generalized arterial calcification of infancyGeneralized arterial calcification of infancy 健康指南 663Neurofibromatosis type 1Neurofibromatosis type 1 健康指南 664Shprintzen-Goldberg syndromeShprintzen-Goldberg syndrome 健康指南 665Alagille syndromeAlagille syndrome 健康指南 666MEGDEL syndromeMEGDEL syndrome 健康指南 667Alveolar capillary dysplasia with misalignment of pulmonary veinsAlveolar capillary dysplasia with misalignment of pulmonary veins 健康指南 668CUL3-related neurodevelopmental disorderCUL3-related neurodevelopmental disorder 健康指南 669Idiopathic infantile hypercalcemiaIdiopathic infantile hypercalcemia 健康指南 670RAPADILINO syndromeRAPADILINO syndrome 健康指南 671Biotin-thiamine-responsive basal ganglia diseaseBiotin-thiamine-responsive basal ganglia disease 健康指南 672Spondylocostal dysostosisSpondylocostal dysostosis 健康指南 67316p11.2 duplication16p11.2 duplication 健康指南 674PolymicrogyriaPolymicrogyria 健康指南 675Mucopolysaccharidosis type IVMucopolysaccharidosis type IV 健康指南 676Rhizomelic chondrodysplasia punctataRhizomelic chondrodysplasia punctata 健康指南 677CLN1 diseaseCLN1 disease 健康指南 678Alpha thalassemia X-linked intellectual disability syndromeAlpha thalassemia X-linked intellectual disability syndrome 健康指南 679Peters anomalyPeters anomaly 健康指南 680Common variable immune deficiencyCommon variable immune deficiency 健康指南 681Frontonasal dysplasiaFrontonasal dysplasia 健康指南 682Hereditary diffuse gastric cancerHereditary diffuse gastric cancer 健康指南 683Spastic paraplegia type 11Spastic paraplegia type 11 健康指南 684Crouzon syndrome with acanthosis nigricansCrouzon syndrome with acanthosis nigricans 健康指南 685Acute necrotizing encephalopathy type 1Acute necrotizing encephalopathy type 1 健康指南 686Congenital hepatic fibrosisCongenital hepatic fibrosis 健康指南 687Bardet-Biedl syndromeBardet-Biedl syndrome 健康指南 688Autoimmune Addison diseaseAutoimmune Addison disease 健康指南 689Autosomal dominant hyper-IgE syndromeAutosomal dominant hyper-IgE syndrome 健康指南 690Adenosine deaminase deficiencyAdenosine deaminase deficiency 健康指南 691STING-associated vasculopathy with onset in infancySTING-associated vasculopathy with onset in infancy 健康指南 692Smith-Magenis syndromeSmith-Magenis syndrome 健康指南 693Congenital plasminogen deficiencyCongenital plasminogen deficiency 健康指南 694Type A insulin resistance syndromeType A insulin resistance syndrome 健康指南 695Spastic paraplegia type 2Spastic paraplegia type 2 健康指南 696Glycogen storage disease type IIIGlycogen storage disease type III 健康指南 697DLG4-related synaptopathyDLG4-related synaptopathy 健康指南 698Au-Kline syndromeAu-Kline syndrome 健康指南 699Rothmund-Thomson syndromeRothmund-Thomson syndrome 健康指南 700SATB2-associated syndromeSATB2-associated syndrome 健康指南 701Pulmonary veno-occlusive diseasePulmonary veno-occlusive disease 健康指南 702Simpson-Golabi-Behmel syndromeSimpson-Golabi-Behmel syndrome 健康指南 703Jansen-de Vries syndromeJansen-de Vries syndrome 健康指南 704HypophosphatasiaHypophosphatasia 健康指南 705Isolated lissencephaly sequenceIsolated lissencephaly sequence 健康指南 706Infantile neuroaxonal dystrophyInfantile neuroaxonal dystrophy 健康指南 707Renal tubular acidosis with deafnessRenal tubular acidosis with deafness 健康指南 708Hyperparathyroidism-jaw tumor syndromeHyperparathyroidism-jaw tumor syndrome 健康指南 709GalactosemiaGalactosemia 健康指南 710Microcephalic osteodysplastic primordial dwarfism type IIMicrocephalic osteodysplastic primordial dwarfism type II 健康指南 711Wiskott-Aldrich syndromeWiskott-Aldrich syndrome 健康指南 712Allergic asthmaAllergic asthma 健康指南 713Rapid-onset dystonia parkinsonismRapid-onset dystonia parkinsonism 健康指南 714Familial hypercholesterolemiaFamilial hypercholesterolemia 健康指南 715Aromatase deficiencyAromatase deficiency 健康指南 716Chronic atrial and intestinal dysrhythmiaChronic atrial and intestinal dysrhythmia 健康指南 717MED13L syndromeMED13L syndrome 健康指南 718Purine nucleoside phosphorylase deficiencyPurine nucleoside phosphorylase deficiency 健康指南 719Alpha-mannosidosisAlpha-mannosidosis 健康指南 720Glycogen storage disease type 0Glycogen storage disease type 0 健康指南 721Nemaline myopathyNemaline myopathy 健康指南 722COL4A1-related brain small-vessel diseaseCOL4A1-related brain small-vessel disease 健康指南 723Dihydropyrimidine dehydrogenase deficiencyDihydropyrimidine dehydrogenase deficiency 健康指南 724Maffucci syndromeMaffucci syndrome 健康指南 725Potocki-Lupski syndromePotocki-Lupski syndrome 健康指南 726Sotos syndromeSotos syndrome 健康指南 727Restless legs syndromeRestless legs syndrome 健康指南 728Baller-Gerold syndromeBaller-Gerold syndrome 健康指南 729Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delayShort stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay 健康指南 730X-linked hypophosphatemiaX-linked hypophosphatemia 健康指南 731UNC80 deficiencyUNC80 deficiency 健康指南 732Roberts syndromeRoberts syndrome 健康指南 733Tetrasomy 18pTetrasomy 18p 健康指南 734Camurati-Engelmann diseaseCamurati-Engelmann disease 健康指南 735Spastic paraplegia type 7Spastic paraplegia type 7 健康指南 736MPV17-related hepatocerebral mitochondrial DNA depletion syndromeMPV17-related hepatocerebral mitochondrial DNA depletion syndrome 健康指南 737Thrombocytopenia-absent radius syndromeThrombocytopenia-absent radius syndrome 健康指南 738Gyrate atrophy of the choroid and retinaGyrate atrophy of the choroid and retina 健康指南 739RNAse T2-deficient leukoencephalopathyRNAse T2-deficient leukoencephalopathy 健康指南 740Giant axonal neuropathyGiant axonal neuropathy 健康指南 741Progressive familial intrahepatic cholestasisProgressive familial intrahepatic cholestasis 健康指南 742Arginine vasopressin resistanceArginine vasopressin resistance 健康指南 743Spinocerebellar ataxia type 36Spinocerebellar ataxia type 36 健康指南 744AchondrogenesisAchondrogenesis 健康指南 745ALG1-congenital disorder of glycosylationALG1-congenital disorder of glycosylation 健康指南 746Chorea-acanthocytosisChorea-acanthocytosis 健康指南 747Capillary malformation-arteriovenous malformation syndromeCapillary malformation-arteriovenous malformation syndrome 健康指南 748Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevationLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 健康指南 749Cranioectodermal dysplasiaCranioectodermal dysplasia 健康指南 750Rigid spine muscular dystrophyRigid spine muscular dystrophy 健康指南 751Spinal muscular atrophy with respiratory distress type 1Spinal muscular atrophy with respiratory distress type 1 健康指南 752CLN3 diseaseCLN3 disease 健康指南 753Hyperphosphatemic familial tumoral calcinosisHyperphosphatemic familial tumoral calcinosis 健康指南 754Isovaleric acidemiaIsovaleric acidemia 健康指南 755Dermatofibrosarcoma protuberansDermatofibrosarcoma protuberans 健康指南 756Huntington's disease-likeHuntington's disease-like 健康指南 757Vitamin D-dependent ricketsVitamin D-dependent rickets 健康指南 758Incontinentia pigmentiIncontinentia pigmenti 健康指南 759X-linked cardiac valvular dysplasiaX-linked cardiac valvular dysplasia 健康指南 760Axenfeld-Rieger syndromeAxenfeld-Rieger syndrome 健康指南 761Sézary syndromeSézary syndrome 健康指南 762Hermansky-Pudlak syndromeHermansky-Pudlak syndrome 健康指南 763Buschke-Ollendorff syndromeBuschke-Ollendorff syndrome 健康指南 764Bloom syndromeBloom syndrome 健康指南 765Epidermolysis bullosa with pyloric atresiaEpidermolysis bullosa with pyloric atresia 健康指南 766Keratoderma with woolly hairKeratoderma with woolly hair 健康指南 767Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 健康指南 768Familial acute myeloid leukemia with mutated CEBPAFamilial acute myeloid leukemia with mutated CEBPA 健康指南 769FOXG1 syndromeFOXG1 syndrome 健康指南 770Congenital mirror movement disorderCongenital mirror movement disorder 健康指南 771Persistent Müllerian duct syndromePersistent Müllerian duct syndrome 健康指南 772ADNP syndromeADNP syndrome 健康指南 773Spondyloepiphyseal dysplasia with marked metaphyseal changesSpondyloepiphyseal dysplasia with marked metaphyseal changes 健康指南 774Manitoba oculotrichoanal syndromeManitoba oculotrichoanal syndrome 健康指南 775Adenylosuccinate lyase deficiencyAdenylosuccinate lyase deficiency 健康指南 776Rhabdoid tumor predisposition syndromeRhabdoid tumor predisposition syndrome 健康指南 777Robinow syndromeRobinow syndrome 健康指南 778Troyer syndromeTroyer syndrome 健康指南 779Pompe diseasePompe disease 健康指南 780Anophthalmia/MicrophthalmiaAnophthalmia/Microphthalmia 健康指南 781Gorlin-Chaudhry-Moss syndromeGorlin-Chaudhry-Moss syndrome 健康指南 782Pendred syndromePendred syndrome 健康指南 783Von Willebrand diseaseVon Willebrand disease 健康指南 784Fryns syndromeFryns syndrome 健康指南 785Beta thalassemiaBeta thalassemia 健康指南 786Walker-Warburg syndromeWalker-Warburg syndrome 健康指南 787FBXL4-related encephalomyopathic mitochondrial DNA depletion syndromeFBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 健康指南 78817q12 deletion syndrome17q12 deletion syndrome 健康指南 789Ataxia-telangiectasiaAtaxia-telangiectasia 健康指南 790Neurodevelopmental disorder with or without anomalies of the brain, eye, or heartNeurodevelopmental disorder with or without anomalies of the brain, eye, or heart 健康指南 791Bartter syndromeBartter syndrome 健康指南 792Duane-radial ray syndromeDuane-radial ray syndrome 健康指南 793Lafora progressive myoclonus epilepsyLafora progressive myoclonus epilepsy 健康指南 794Hereditary folate malabsorptionHereditary folate malabsorption 健康指南 795Beckwith-Wiedemann syndromeBeckwith-Wiedemann syndrome 健康指南 796Kallmann syndromeKallmann syndrome 健康指南 797Donohue syndromeDonohue syndrome 健康指南 798Thiamine-responsive megaloblastic anemia syndromeThiamine-responsive megaloblastic anemia syndrome 健康指南 799Benign familial neonatal seizuresBenign familial neonatal seizures 健康指南 800CHD2 myoclonic encephalopathyCHD2 myoclonic encephalopathy 健康指南 801AceruloplasminemiaAceruloplasminemia 健康指南 802NeuroblastomaNeuroblastoma 健康指南 803Action myoclonus–renal failure syndromeAction myoclonus–renal failure syndrome 健康指南 804Distal hereditary motor neuropathy, type VDistal hereditary motor neuropathy, type V 健康指南 805Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyCongenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 健康指南 806Leber congenital amaurosisLeber congenital amaurosis 健康指南 807Kearns-Sayre syndromeKearns-Sayre syndrome 健康指南 808Tetra-amelia syndromeTetra-amelia syndrome 健康指南 809X-linked hyper IgM syndromeX-linked hyper IgM syndrome 健康指南 810Nakajo-Nishimura syndromeNakajo-Nishimura syndrome 健康指南 811PDGFRA-associated chronic eosinophilic leukemiaPDGFRA-associated chronic eosinophilic leukemia 健康指南 812Sick sinus syndromeSick sinus syndrome 健康指南 813Familial restrictive cardiomyopathyFamilial restrictive cardiomyopathy 健康指南 814D-bifunctional protein deficiencyD-bifunctional protein deficiency 健康指南 815Intrahepatic cholestasis of pregnancyIntrahepatic cholestasis of pregnancy 健康指南 816Yao syndromeYao syndrome 健康指南 817Alpers-Huttenlocher syndromeAlpers-Huttenlocher syndrome 健康指南 818Erdheim-Chester diseaseErdheim-Chester disease 健康指南 819Familial hyperaldosteronismFamilial hyperaldosteronism 健康指南 82015q13.3 microdeletion15q13.3 microdeletion 健康指南 821LymphangioleiomyomatosisLymphangioleiomyomatosis 健康指南 822Andersen-Tawil syndromeAndersen-Tawil syndrome 健康指南 823Floating-Harbor syndromeFloating-Harbor syndrome 健康指南 824Isolated ectopia lentisIsolated ectopia lentis 健康指南 825MBD5-associated neurodevelopmental disorderMBD5-associated neurodevelopmental disorder 健康指南 826Dihydropyrimidinase deficiencyDihydropyrimidinase deficiency 健康指南 827Laryngo-onycho-cutaneous syndromeLaryngo-onycho-cutaneous syndrome 健康指南 828Snyder-Robinson syndromeSnyder-Robinson syndrome 健康指南 8293-methylglutaconyl-CoA hydratase deficiency3-methylglutaconyl-CoA hydratase deficiency 健康指南 830Primary localized cutaneous amyloidosisPrimary localized cutaneous amyloidosis 健康指南 831Retroperitoneal fibrosisRetroperitoneal fibrosis 健康指南 832Activated PI3K-delta syndromeActivated PI3K-delta syndrome 健康指南 833Very long-chain acyl-CoA dehydrogenase deficiencyVery long-chain acyl-CoA dehydrogenase deficiency 健康指南 834Hereditary leiomyomatosis and renal cell cancerHereditary leiomyomatosis and renal cell cancer 健康指南 835Androgen insensitivity syndromeAndrogen insensitivity syndrome 健康指南 836Pyridoxal phosphate-responsive seizuresPyridoxal phosphate-responsive seizures 健康指南 837Tay-Sachs diseaseTay-Sachs disease 健康指南 838GRN-related frontotemporal lobar degenerationGRN-related frontotemporal lobar degeneration 健康指南 839Blepharocheilodontic syndromeBlepharocheilodontic syndrome 健康指南 840CLN10 diseaseCLN10 disease 健康指南 841Autosomal recessive congenital methemoglobinemiaAutosomal recessive congenital methemoglobinemia 健康指南 842Gnathodiaphyseal dysplasiaGnathodiaphyseal dysplasia 健康指南 843RetinoblastomaRetinoblastoma 健康指南 844Distal hereditary motor neuropathy, type IIDistal hereditary motor neuropathy, type II 健康指南 845Dopa-responsive dystoniaDopa-responsive dystonia 健康指南 8463q29 microdeletion syndrome3q29 microdeletion syndrome 健康指南 847Imerslund-Gräsbeck syndromeImerslund-Gräsbeck syndrome 健康指南 848Deafness-dystonia-optic neuronopathy syndromeDeafness-dystonia-optic neuronopathy syndrome 健康指南 849Glutaric acidemia type IGlutaric acidemia type I 健康指南 850Centronuclear myopathyCentronuclear myopathy 健康指南 8512-hydroxyglutaric aciduria2-hydroxyglutaric aciduria 健康指南 852ADCY5-related dyskinesiaADCY5-related dyskinesia 健康指南 853Ankyrin-B syndromeAnkyrin-B syndrome 健康指南 854Familial hemophagocytic lymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis 健康指南 855Trichohepatoenteric syndromeTrichohepatoenteric syndrome 健康指南 856Nail-patella syndromeNail-patella syndrome 健康指南 857Auriculocondylar syndromeAuriculocondylar syndrome 健康指南 858X-linked spondyloepiphyseal dysplasia tardaX-linked spondyloepiphyseal dysplasia tarda 健康指南 859Oculopharyngeal muscular dystrophyOculopharyngeal muscular dystrophy 健康指南 860Pyruvate carboxylase deficiencyPyruvate carboxylase deficiency 健康指南 861Gillespie syndromeGillespie syndrome 健康指南 862MelorheostosisMelorheostosis 健康指南 863Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularisNaegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis 健康指南 864Core binding factor acute myeloid leukemiaCore binding factor acute myeloid leukemia 健康指南 865Cytochrome c oxidase deficiencyCytochrome c oxidase deficiency 健康指南 866Dystonia 16Dystonia 16 健康指南 867Glycogen storage disease type VGlycogen storage disease type V 健康指南 868KBG syndromeKBG syndrome 健康指南 869Mandibuloacral dysplasiaMandibuloacral dysplasia 健康指南 870Bosma arhinia microphthalmia syndromeBosma arhinia microphthalmia syndrome 健康指南 871Larsen syndromeLarsen syndrome 健康指南 872Alternating hemiplegia of childhoodAlternating hemiplegia of childhood 健康指南 873Retinitis pigmentosaRetinitis pigmentosa 健康指南 874C3 glomerulopathyC3 glomerulopathy 健康指南 875Familial encephalopathy with neuroserpin inclusion bodiesFamilial encephalopathy with neuroserpin inclusion bodies 健康指南 876Aarskog-Scott syndromeAarskog-Scott syndrome 健康指南 877Primary hyperoxaluriaPrimary hyperoxaluria 健康指南 878Hereditary spherocytosisHereditary spherocytosis 健康指南 879GM3 synthase deficiencyGM3 synthase deficiency 健康指南 880HIVEP2-related intellectual disabilityHIVEP2-related intellectual disability 健康指南 881Isolated Pierre Robin sequenceIsolated Pierre Robin sequence 健康指南 882Intestinal pseudo-obstructionIntestinal pseudo-obstruction 健康指南 883Multiple familial trichoepitheliomaMultiple familial trichoepithelioma 健康指南 884NephronophthisisNephronophthisis 健康指南 885Carnitine palmitoyltransferase I deficiencyCarnitine palmitoyltransferase I deficiency 健康指南 886Congenital insensitivity to pain with anhidrosisCongenital insensitivity to pain with anhidrosis 健康指南 887Lowe syndromeLowe syndrome 健康指南 888Burn-McKeown syndromeBurn-McKeown syndrome 健康指南 889Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 健康指南 890Otopalatodigital syndrome type 1Otopalatodigital syndrome type 1 健康指南 891AniridiaAniridia 健康指南 892Kabuki syndromeKabuki syndrome 健康指南 893Congenital diaphragmatic herniaCongenital diaphragmatic hernia 健康指南 894Pfeiffer syndromePfeiffer syndrome 健康指南 895Acute promyelocytic leukemiaAcute promyelocytic leukemia 健康指南 896Autosomal dominant epilepsy with auditory featuresAutosomal dominant epilepsy with auditory features 健康指南 897Adenine phosphoribosyltransferase deficiencyAdenine phosphoribosyltransferase deficiency 健康指南 898Sporadic hemiplegic migraineSporadic hemiplegic migraine 健康指南 899Microcephaly-capillary malformation syndromeMicrocephaly-capillary malformation syndrome 健康指南 900Melnick-Needles syndromeMelnick-Needles syndrome 健康指南 901Prothrombin thrombophiliaProthrombin thrombophilia 健康指南 902SETBP1 haploinsufficiency disorderSETBP1 haploinsufficiency disorder 健康指南 903Sudden infant death with dysgenesis of the testes syndromeSudden infant death with dysgenesis of the testes syndrome 健康指南 904Benign recurrent intrahepatic cholestasisBenign recurrent intrahepatic cholestasis 健康指南 905CLN11 diseaseCLN11 disease 健康指南 906GNE myopathyGNE myopathy 健康指南 907Saethre-Chotzen syndromeSaethre-Chotzen syndrome 健康指南 908Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 健康指南 909CLCN2-related leukoencephalopathyCLCN2-related leukoencephalopathy 健康指南 910HyperlysinemiaHyperlysinemia 健康指南 911Ollier diseaseOllier disease 健康指南 912Mucolipidosis II alpha/betaMucolipidosis II alpha/beta 健康指南 913Myofibrillar myopathyMyofibrillar myopathy 健康指南 914Leukocyte adhesion deficiency type 1Leukocyte adhesion deficiency type 1 健康指南 9152q37 deletion syndrome2q37 deletion syndrome 健康指南 916Anauxetic dysplasiaAnauxetic dysplasia 健康指南 917Surfactant dysfunctionSurfactant dysfunction 健康指南 918Juvenile Paget diseaseJuvenile Paget disease 健康指南 919Pantothenate kinase-associated neurodegenerationPantothenate kinase-associated neurodegeneration 健康指南 920X-linked agammaglobulinemiaX-linked agammaglobulinemia 健康指南 921Short/branched chain acyl-CoA dehydrogenase deficiencyShort/branched chain acyl-CoA dehydrogenase deficiency 健康指南 922Donnai-Barrow syndromeDonnai-Barrow syndrome 健康指南 923Farber lipogranulomatosisFarber lipogranulomatosis 健康指南 92422q13.3 deletion syndrome22q13.3 deletion syndrome 健康指南 925Hereditary sensory neuropathy type IAHereditary sensory neuropathy type IA 健康指南 926Familial paroxysmal nonkinesigenic dyskinesiaFamilial paroxysmal nonkinesigenic dyskinesia 健康指南 927VEXAS syndromeVEXAS syndrome 健康指南 928Crigler-Najjar syndromeCrigler-Najjar syndrome 健康指南 929Familial hemiplegic migraineFamilial hemiplegic migraine 健康指南 930Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variantOhdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 健康指南 931Episodic ataxiaEpisodic ataxia 健康指南 932Factor V Leiden thrombophiliaFactor V Leiden thrombophilia 健康指南 933Primary familial brain calcificationPrimary familial brain calcification 健康指南 934X-linked juvenile retinoschisisX-linked juvenile retinoschisis 健康指南 935X-linked sideroblastic anemia and ataxiaX-linked sideroblastic anemia and ataxia 健康指南 936Frontometaphyseal dysplasiaFrontometaphyseal dysplasia 健康指南 937AspartylglucosaminuriaAspartylglucosaminuria 健康指南 938Nager syndromeNager syndrome 健康指南 939Protein S deficiencyProtein S deficiency 健康指南 940Adams-Oliver syndromeAdams-Oliver syndrome 健康指南 941Meier-Gorlin syndromeMeier-Gorlin syndrome 健康指南 9428p11 myeloproliferative syndrome8p11 myeloproliferative syndrome 健康指南 943Genitopatellar syndromeGenitopatellar syndrome 健康指南 944Mitochondrial neurogastrointestinal encephalopathy diseaseMitochondrial neurogastrointestinal encephalopathy disease 健康指南 945Atelosteogenesis type 3Atelosteogenesis type 3 健康指南 946Hypomyelination with brainstem and spinal cord involvement and leg spasticityHypomyelination with brainstem and spinal cord involvement and leg spasticity 健康指南 947Coffin-Siris syndromeCoffin-Siris syndrome 健康指南 948Baraitser-Winter syndromeBaraitser-Winter syndrome 健康指南 949Majeed syndromeMajeed syndrome 健康指南 950Trichorhinophalangeal syndrome type ITrichorhinophalangeal syndrome type I 健康指南 951Renal tubular dysgenesisRenal tubular dysgenesis 健康指南 952Cytogenetically normal acute myeloid leukemiaCytogenetically normal acute myeloid leukemia 健康指南 953Dopamine beta-hydroxylase deficiencyDopamine beta-hydroxylase deficiency 健康指南 954Progressive myoclonic epilepsy type 1Progressive myoclonic epilepsy type 1 健康指南 955Prolidase deficiencyProlidase deficiency 健康指南 956Dopamine transporter deficiency syndromeDopamine transporter deficiency syndrome 健康指南 957Intervertebral disc diseaseIntervertebral disc disease 健康指南 958Leber hereditary optic neuropathyLeber hereditary optic neuropathy 健康指南 959Sandhoff diseaseSandhoff disease 健康指南 960Carbonic anhydrase VA deficiencyCarbonic anhydrase VA deficiency 健康指南 961LMNA-related congenital muscular dystrophyLMNA-related congenital muscular dystrophy 健康指南 962Subcortical band heterotopiaSubcortical band heterotopia 健康指南 963FG syndromeFG syndrome 健康指南 964Familial focal epilepsy with variable fociFamilial focal epilepsy with variable foci 健康指南 965Aromatic l-amino acid decarboxylase deficiencyAromatic l-amino acid decarboxylase deficiency 健康指南 966Autosomal dominant cerebellar ataxia, deafness, and narcolepsyAutosomal dominant cerebellar ataxia, deafness, and narcolepsy 健康指南 967Idiopathic inflammatory myopathyIdiopathic inflammatory myopathy 健康指南 968Pseudocholinesterase deficiencyPseudocholinesterase deficiency 健康指南 969Warfarin resistanceWarfarin resistance 健康指南 970RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathyRRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 健康指南 971Knobloch syndromeKnobloch syndrome 健康指南 972Costeff syndromeCosteff syndrome 健康指南 973Asparagine synthetase deficiencyAsparagine synthetase deficiency 健康指南 974Transcobalamin deficiencyTranscobalamin deficiency 健康指南 975SLC35A2-congenital disorder of glycosylationSLC35A2-congenital disorder of glycosylation 健康指南 976CLN6 diseaseCLN6 disease 健康指南 977Spondylothoracic dysostosisSpondylothoracic dysostosis 健康指南 978Early-onset glaucomaEarly-onset glaucoma 健康指南 979Laron syndromeLaron syndrome 健康指南 980GRIN2B-related neurodevelopmental disorderGRIN2B-related neurodevelopmental disorder 健康指南 981Hereditary sensory and autonomic neuropathy type IEHereditary sensory and autonomic neuropathy type IE 健康指南 982FibrochondrogenesisFibrochondrogenesis 健康指南 983Griscelli syndromeGriscelli syndrome 健康指南 984Blepharophimosis, ptosis, and epicanthus inversus syndromeBlepharophimosis, ptosis, and epicanthus inversus syndrome 健康指南 985Char syndromeChar syndrome 健康指南 986Permanent neonatal diabetes mellitusPermanent neonatal diabetes mellitus 健康指南 987SchwannomatosisSchwannomatosis 健康指南 988Encephalocraniocutaneous lipomatosisEncephalocraniocutaneous lipomatosis 健康指南 989Autosomal recessive spastic ataxia of Charlevoix-SaguenayAutosomal recessive spastic ataxia of Charlevoix-Saguenay 健康指南 990CHMP2B-related frontotemporal dementiaCHMP2B-related frontotemporal dementia 健康指南 991Channelopathy-associated congenital insensitivity to painChannelopathy-associated congenital insensitivity to pain 健康指南 992Periventricular heterotopiaPeriventricular heterotopia 健康指南 993Oculofaciocardiodental syndromeOculofaciocardiodental syndrome 健康指南 994Small fiber neuropathySmall fiber neuropathy 健康指南 995Wilms tumorWilms tumor 健康指南 996Hypohidrotic ectodermal dysplasiaHypohidrotic ectodermal dysplasia 健康指南 997Infantile-onset spinocerebellar ataxiaInfantile-onset spinocerebellar ataxia 健康指南 998PURA syndromePURA syndrome 健康指南 999Huntington's diseaseHuntington's disease 健康指南 1000Waardenburg syndromeWaardenburg syndrome 健康指南 1001Cap myopathyCap myopathy 健康指南 1002Polycystic kidney diseasePolycystic kidney disease 健康指南 1003Hereditary fructose intoleranceHereditary fructose intolerance 健康指南 1004Popliteal pterygium syndromePopliteal pterygium syndrome 健康指南 1005SCN8A-related epilepsy with encephalopathySCN8A-related epilepsy with encephalopathy 健康指南 100647,XYY syndrome47,XYY syndrome 健康指南 1007Kniest dysplasiaKniest dysplasia 健康指南 1008Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathyCerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 健康指南 1009Mitochondrial complex III deficiencyMitochondrial complex III deficiency 健康指南 1010Adenosine deaminase 2 deficiencyAdenosine deaminase 2 deficiency 健康指南 1011Congenital bile acid synthesis defect type 1Congenital bile acid synthesis defect type 1 健康指南 1012Progressive pseudorheumatoid dysplasiaProgressive pseudorheumatoid dysplasia 健康指南 1013Partington syndromePartington syndrome 健康指南 1014Arginine vasopressin deficiencyArginine vasopressin deficiency 健康指南 1015Hereditary hyperekplexiaHereditary hyperekplexia 健康指南 1016CherubismCherubism 健康指南 1017Scalp-ear-nipple syndromeScalp-ear-nipple syndrome 健康指南 1018Fragile X-associated primary ovarian insufficiencyFragile X-associated primary ovarian insufficiency 健康指南 1019PilomatricomaPilomatricoma 健康指南 1020Asphyxiating thoracic dystrophyAsphyxiating thoracic dystrophy 健康指南 1021CLN2 diseaseCLN2 disease 健康指南 1022Clopidogrel resistanceClopidogrel resistance 健康指南 1023Craniometaphyseal dysplasiaCraniometaphyseal dysplasia 健康指南 1024Parkes Weber syndromeParkes Weber syndrome 健康指南 102519p13.13 deletion syndrome19p13.13 deletion syndrome 健康指南 1026Perrault syndromePerrault syndrome 健康指南 1027Beare-Stevenson cutis gyrata syndromeBeare-Stevenson cutis gyrata syndrome 健康指南 1028Glutathione synthetase deficiencyGlutathione synthetase deficiency 健康指南 1029Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 健康指南 1030Essential thrombocythemiaEssential thrombocythemia 健康指南 1031MyD88 deficiencyMyD88 deficiency 健康指南 1032Tumor necrosis factor receptor-associated periodic syndromeTumor necrosis factor receptor-associated periodic syndrome 健康指南 1033Alexander diseaseAlexander disease 健康指南 1034Ataxia-pancytopenia syndromeAtaxia-pancytopenia syndrome 健康指南 1035ALG12-congenital disorder of glycosylationALG12-congenital disorder of glycosylation 健康指南 1036Oculocutaneous albinismOculocutaneous albinism 健康指南 1037Familial osteochondritis dissecansFamilial osteochondritis dissecans 健康指南 1038Familial exudative vitreoretinopathyFamilial exudative vitreoretinopathy 健康指南 1039Silver-Russell syndromeSilver-Russell syndrome 健康指南 1040Hereditary angioedemaHereditary angioedema 健康指南 1041Canavan diseaseCanavan disease 健康指南 1042Mitochondrial membrane protein-associated neurodegenerationMitochondrial membrane protein-associated neurodegeneration 健康指南 1043Miller syndromeMiller syndrome 健康指南 1044Protein C deficiencyProtein C deficiency 健康指南 1045Age-related hearing lossAge-related hearing loss 健康指南 1046Multicentric osteolysis, nodulosis, and arthropathyMulticentric osteolysis, nodulosis, and arthropathy 健康指南 1047Lujan syndromeLujan syndrome 健康指南 1048White-Sutton syndromeWhite-Sutton syndrome 健康指南 1049Krabbe diseaseKrabbe disease 健康指南 1050Emery-Dreifuss muscular dystrophyEmery-Dreifuss muscular dystrophy 健康指南 1051Weissenbacher-Zweymüller syndromeWeissenbacher-Zweymüller syndrome 健康指南 1052Ewing sarcomaEwing sarcoma 健康指南 1053Spastic paraplegia type 5ASpastic paraplegia type 5A 健康指南 1054Tarsal-carpal coalition syndromeTarsal-carpal coalition syndrome 健康指南 1055Pseudoxanthoma elasticumPseudoxanthoma elasticum 健康指南 1056Keratitis-ichthyosis-deafness syndromeKeratitis-ichthyosis-deafness syndrome 健康指南 1057Anophthalmia/microphthalmia-esophageal atresia syndromeAnophthalmia/microphthalmia-esophageal atresia syndrome 健康指南 1058Medullary cystic kidney disease type 1Medullary cystic kidney disease type 1 健康指南 1059Osteoporosis-pseudoglioma syndromeOsteoporosis-pseudoglioma syndrome 健康指南 1060X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasiaX-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 健康指南 1061Early-onset isolated dystoniaEarly-onset isolated dystonia 健康指南 1062Isolated Duane retraction syndromeIsolated Duane retraction syndrome 健康指南 1063Polycythemia veraPolycythemia vera 健康指南 1064X-linked dystonia-parkinsonismX-linked dystonia-parkinsonism 健康指南 1065Congenital bile acid synthesis defect type 2Congenital bile acid synthesis defect type 2 健康指南 1066Inherited thyroxine-binding globulin deficiencyInherited thyroxine-binding globulin deficiency 健康指南 1067Moyamoya diseaseMoyamoya disease 健康指南 1068Acrocallosal syndromeAcrocallosal syndrome 健康指南 1069Myotonia congenitaMyotonia congenita 健康指南 10703p deletion syndrome3p deletion syndrome 健康指南 1071Congenital myasthenic syndromesCongenital myasthenic syndromes 健康指南 1072Potocki-Shaffer syndromePotocki-Shaffer syndrome 健康指南 1073Liebenberg syndromeLiebenberg syndrome 健康指南 1074Fibrodysplasia ossificans progressivaFibrodysplasia ossificans progressiva 健康指南 1075Sheldon-Hall syndromeSheldon-Hall syndrome 健康指南 1076Factor XI deficiencyFactor XI deficiency 健康指南 1077Cockayne syndromeCockayne syndrome 健康指南 1078Vitelliform macular dystrophyVitelliform macular dystrophy 健康指南 1079Benign essential blepharospasmBenign essential blepharospasm 健康指南 1080Hereditary multiple osteochondromasHereditary multiple osteochondromas 健康指南 1081Spinocerebellar ataxia type 3Spinocerebellar ataxia type 3 健康指南 1082Hypomyelination and congenital cataractHypomyelination and congenital cataract 健康指南 1083CHILD syndromeCHILD syndrome 健康指南 1084Cerebral cavernous malformationCerebral cavernous malformation 健康指南 1085Recurrent hydatidiform moleRecurrent hydatidiform mole 健康指南 1086Complement component 2 deficiencyComplement component 2 deficiency 健康指南 1087Nonsyndromic aplasia cutis congenitaNonsyndromic aplasia cutis congenita 健康指南 1088REN-related kidney diseaseREN-related kidney disease 健康指南 1089Acromicric dysplasiaAcromicric dysplasia 健康指南 1090Tubular aggregate myopathyTubular aggregate myopathy 健康指南 1091Cone-rod dystrophyCone-rod dystrophy 健康指南 1092Familial Mediterranean feverFamilial Mediterranean fever 健康指南 1093Otospondylomegaepiphyseal dysplasiaOtospondylomegaepiphyseal dysplasia 健康指南 1094Nonsyndromic dilated cardiomyopathyNonsyndromic dilated cardiomyopathy 健康指南 1095Lactate dehydrogenase deficiencyLactate dehydrogenase deficiency 健康指南 1096Tibial muscular dystrophyTibial muscular dystrophy 健康指南 1097FOXP2-related speech and language disorderFOXP2-related speech and language disorder 健康指南 1098X-linked sideroblastic anemiaX-linked sideroblastic anemia 健康指南 1099PseudoachondroplasiaPseudoachondroplasia 健康指南 1100Neurofibromatosis type 2Neurofibromatosis type 2 健康指南 1101Phosphoglycerate kinase deficiencyPhosphoglycerate kinase deficiency 健康指南 1102HSD10 diseaseHSD10 disease 健康指南 1103X-linked acrogigantismX-linked acrogigantism 健康指南 1104Multiple system atrophyMultiple system atrophy 健康指南 1105Paroxysmal extreme pain disorderParoxysmal extreme pain disorder 健康指南 1106Dysequilibrium syndromeDysequilibrium syndrome 健康指南 1107Lymphedema-distichiasis syndromeLymphedema-distichiasis syndrome 健康指南 1108Complete LCAT deficiencyComplete LCAT deficiency 健康指南 1109T-cell immunodeficiency, congenital alopecia, and nail dystrophyT-cell immunodeficiency, congenital alopecia, and nail dystrophy 健康指南 1110Pulmonary alveolar microlithiasisPulmonary alveolar microlithiasis 健康指南 1111Autosomal recessive primary microcephalyAutosomal recessive primary microcephaly 健康指南 1112Hepatic veno-occlusive disease with immunodeficiencyHepatic veno-occlusive disease with immunodeficiency 健康指南 1113MECP2-related severe neonatal encephalopathyMECP2-related severe neonatal encephalopathy 健康指南 11143-hydroxyacyl-CoA dehydrogenase deficiency3-hydroxyacyl-CoA dehydrogenase deficiency 健康指南 1115Epidermolytic hyperkeratosisEpidermolytic hyperkeratosis 健康指南 1116Perry syndromePerry syndrome 健康指南 1117Proopiomelanocortin deficiencyProopiomelanocortin deficiency 健康指南 111817q12 duplication17q12 duplication 健康指南 1119Weaver syndromeWeaver syndrome 健康指南 1120Isobutyryl-CoA dehydrogenase deficiencyIsobutyryl-CoA dehydrogenase deficiency 健康指南 1121X-linked chondrodysplasia punctata 1X-linked chondrodysplasia punctata 1 健康指南 1122Combined oxidative phosphorylation deficiency 1Combined oxidative phosphorylation deficiency 1 健康指南 1123Pyruvate kinase deficiencyPyruvate kinase deficiency 健康指南 1124Factor XIII deficiencyFactor XIII deficiency 健康指南 11255q minus syndrome5q minus syndrome 健康指南 1126KCNK9 imprinting syndromeKCNK9 imprinting syndrome 健康指南 1127Ocular albinismOcular albinism 健康指南 1128Feingold syndromeFeingold syndrome 健康指南 11291p36 deletion syndrome1p36 deletion syndrome 健康指南 1130Gilbert syndromeGilbert syndrome 健康指南 1131Harlequin ichthyosisHarlequin ichthyosis 健康指南 1132X-linked thrombocytopeniaX-linked thrombocytopenia 健康指南 1133Ménière diseaseMénière disease 健康指南 1134Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodesMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 健康指南 1135Fundus albipunctatusFundus albipunctatus 健康指南 1136Short-chain acyl-CoA dehydrogenase deficiencyShort-chain acyl-CoA dehydrogenase deficiency 健康指南 1137Denys-Drash syndromeDenys-Drash syndrome 健康指南 1138Primary myelofibrosisPrimary myelofibrosis 健康指南 1139Renpenning syndromeRenpenning syndrome 健康指南 1140X-linked lissencephaly with abnormal genitaliaX-linked lissencephaly with abnormal genitalia 健康指南 1141Clouston syndromeClouston syndrome 健康指南 1142GM2 activator deficiencyGM2 activator deficiency 健康指南 1143Glutaric acidemia type IIGlutaric acidemia type II 健康指南 1144Primary spontaneous pneumothoraxPrimary spontaneous pneumothorax 健康指南 1145Congenital contractural arachnodactylyCongenital contractural arachnodactyly 健康指南 11465-alpha reductase deficiency5-alpha reductase deficiency 健康指南 1147Warfarin sensitivityWarfarin sensitivity 健康指南 1148Craniofacial-deafness-hand syndromeCraniofacial-deafness-hand syndrome 健康指南 1149Ochoa syndromeOchoa syndrome 健康指南 11506q24-related transient neonatal diabetes mellitus6q24-related transient neonatal diabetes mellitus 健康指南 1151DNMT3A overgrowth syndromeDNMT3A overgrowth syndrome 健康指南 1152AchromatopsiaAchromatopsia 健康指南 1153ChordomaChordoma 健康指南 1154Pulmonary arterial hypertensionPulmonary arterial hypertension 健康指南 1155Spinocerebellar ataxia type 2Spinocerebellar ataxia type 2 健康指南 1156Autosomal recessive axonal neuropathy with neuromyotoniaAutosomal recessive axonal neuropathy with neuromyotonia 健康指南 1157Angelman syndromeAngelman syndrome 健康指南 1158Actin-accumulation myopathyActin-accumulation myopathy 健康指南 1159Familial isolated hyperparathyroidismFamilial isolated hyperparathyroidism 健康指南 1160Autosomal dominant tubulointerstitial kidney disease-UMODAutosomal dominant tubulointerstitial kidney disease-UMOD 健康指南 1161Enlarged parietal foraminaEnlarged parietal foramina 健康指南 1162Cohen syndromeCohen syndrome 健康指南 1163Omenn syndromeOmenn syndrome 健康指南 1164AdermatoglyphiaAdermatoglyphia 健康指南 1165Isolated congenital aspleniaIsolated congenital asplenia 健康指南 116617-beta hydroxysteroid dehydrogenase 3 deficiency17-beta hydroxysteroid dehydrogenase 3 deficiency 健康指南 1167CLN5 diseaseCLN5 disease 健康指南 1168HypochondroplasiaHypochondroplasia 健康指南 1169Winchester syndromeWinchester syndrome 健康指南 1170Bare lymphocyte syndrome type IIBare lymphocyte syndrome type II 健康指南 1171X-linked congenital stationary night blindnessX-linked congenital stationary night blindness 健康指南 1172Hepatic lipase deficiencyHepatic lipase deficiency 健康指南 1173Cushing diseaseCushing disease 健康指南 1174Lysinuric protein intoleranceLysinuric protein intolerance 健康指南 1175Spastic paraplegia type 4Spastic paraplegia type 4 健康指南 1176Androgenetic alopeciaAndrogenetic alopecia 健康指南 1177Familial glucocorticoid deficiencyFamilial glucocorticoid deficiency 健康指南 1178Multiple mitochondrial dysfunctions syndromeMultiple mitochondrial dysfunctions syndrome 健康指南 1179Spastic paraplegia type 3ASpastic paraplegia type 3A 健康指南 1180Pyruvate dehydrogenase deficiencyPyruvate dehydrogenase deficiency 健康指南 1181Fragile X syndromeFragile X syndrome 健康指南 1182Glucose-6-phosphate dehydrogenase deficiencyGlucose-6-phosphate dehydrogenase deficiency 健康指南 1183Hereditary antithrombin deficiencyHereditary antithrombin deficiency 健康指南 1184Intranuclear rod myopathyIntranuclear rod myopathy 健康指南 1185Myoclonic epilepsy myopathy sensory ataxiaMyoclonic epilepsy myopathy sensory ataxia 健康指南 1186X-linked dilated cardiomyopathyX-linked dilated cardiomyopathy 健康指南 1187IRAK-4 deficiencyIRAK-4 deficiency 健康指南 1188Left ventricular noncompactionLeft ventricular noncompaction 健康指南 118916p11.2 deletion syndrome16p11.2 deletion syndrome 健康指南 1190BradyopsiaBradyopsia 健康指南 1191Generalized pustular psoriasisGeneralized pustular psoriasis 健康指南 1192Isolated hyperchlorhidrosisIsolated hyperchlorhidrosis 健康指南 1193Head and neck squamous cell carcinomaHead and neck squamous cell carcinoma 健康指南 1194Optic atrophy type 1Optic atrophy type 1 健康指南 1195CLN4 diseaseCLN4 disease 健康指南 1196Developmental and epileptic encephalopathy 1Developmental and epileptic encephalopathy 1 健康指南 1197GRACILE syndromeGRACILE syndrome 健康指南 11985q31.3 microdeletion syndrome5q31.3 microdeletion syndrome 健康指南 1199Brugada syndromeBrugada syndrome 健康指南 1200Glucose phosphate isomerase deficiencyGlucose phosphate isomerase deficiency 健康指南 1201Multiple epiphyseal dysplasiaMultiple epiphyseal dysplasia 健康指南 1202ACAD9 deficiencyACAD9 deficiency 健康指南 1203Myopathy with deficiency of iron-sulfur cluster assembly enzymeMyopathy with deficiency of iron-sulfur cluster assembly enzyme 健康指南 1204Smith-Kingsmore syndromeSmith-Kingsmore syndrome 健康指南 1205Autosomal dominant vitreoretinochoroidopathyAutosomal dominant vitreoretinochoroidopathy 健康指南 1206Renal hypouricemiaRenal hypouricemia 健康指南 12073-hydroxy-3-methylglutaryl-CoA lyase deficiency3-hydroxy-3-methylglutaryl-CoA lyase deficiency 健康指南 1208Renal coloboma syndromeRenal coloboma syndrome 健康指南 1209Myoclonic epilepsy with ragged-red fibersMyoclonic epilepsy with ragged-red fibers 健康指南 1210Meckel syndromeMeckel syndrome 健康指南 1211Spastic paraplegia type 8Spastic paraplegia type 8 健康指南 1212Dentinogenesis imperfectaDentinogenesis imperfecta 健康指南 1213Early-onset myopathy with fatal cardiomyopathyEarly-onset myopathy with fatal cardiomyopathy 健康指南 1214Mitochondrial trifunctional protein deficiencyMitochondrial trifunctional protein deficiency 健康指南 1215FucosidosisFucosidosis 健康指南 1216Bowen-Conradi syndromeBowen-Conradi syndrome 健康指南 1217Retinal arterial macroaneurysm with supravalvular pulmonic stenosisRetinal arterial macroaneurysm with supravalvular pulmonic stenosis 健康指南 1218Hyperkalemic periodic paralysisHyperkalemic periodic paralysis 健康指南 1219Adiposis dolorosaAdiposis dolorosa 健康指南 1220Senior-Løken syndromeSenior-Løken syndrome 健康指南 1221Spondylocarpotarsal synostosis syndromeSpondylocarpotarsal synostosis syndrome 健康指南 1222Horizontal gaze palsy with progressive scoliosisHorizontal gaze palsy with progressive scoliosis 健康指南 1223Hyperferritinemia-cataract syndromeHyperferritinemia-cataract syndrome 健康指南 1224Silver syndromeSilver syndrome 健康指南 1225Kleefstra syndromeKleefstra syndrome 健康指南 1226Hand-foot-genital syndromeHand-foot-genital syndrome 健康指南 1227CHST3-related skeletal dysplasiaCHST3-related skeletal dysplasia 健康指南 1228Spastic paraplegia type 31Spastic paraplegia type 31 健康指南 1229Myosin storage myopathyMyosin storage myopathy 健康指南 1230Fibronectin glomerulopathyFibronectin glomerulopathy 健康指南 1231Severe congenital neutropeniaSevere congenital neutropenia 健康指南 1232Cornelia de Lange syndromeCornelia de Lange syndrome 健康指南 1233Coffin-Lowry syndromeCoffin-Lowry syndrome 健康指南 1234Werner syndromeWerner syndrome 健康指南 1235N-acetylglutamate synthase deficiencyN-acetylglutamate synthase deficiency 健康指南 1236PRICKLE1-related progressive myoclonus epilepsy with ataxiaPRICKLE1-related progressive myoclonus epilepsy with ataxia 健康指南 1237Cryptogenic cirrhosisCryptogenic cirrhosis 健康指南 1238Ataxia neuropathy spectrumAtaxia neuropathy spectrum 健康指南 1239Congenital nephrotic syndromeCongenital nephrotic syndrome 健康指南 1240Spinal muscular atrophy with lower extremity predominanceSpinal muscular atrophy with lower extremity predominance 健康指南 124116p12.2 microdeletion16p12.2 microdeletion 健康指南 1242ErythromelalgiaErythromelalgia 健康指南 1243Treacher Collins syndromeTreacher Collins syndrome 健康指南 1244PiebaldismPiebaldism 健康指南 1245Leydig cell hypoplasiaLeydig cell hypoplasia 健康指南 12463MC syndrome3MC syndrome 健康指南 1247Horner syndromeHorner syndrome 健康指南 1248Miller-Dieker syndromeMiller-Dieker syndrome 健康指南 1249SUCLG1-related mitochondrial DNA depletion syndromeSUCLG1-related mitochondrial DNA depletion syndrome 健康指南 1250Hereditary myopathy with early respiratory failureHereditary myopathy with early respiratory failure 健康指南 1251Corticosterone methyloxidase deficiencyCorticosterone methyloxidase deficiency 健康指南 1252Glanzmann thrombastheniaGlanzmann thrombasthenia 健康指南 1253Congenital sucrase-isomaltase deficiencyCongenital sucrase-isomaltase deficiency 健康指南 1254COG5-congenital disorder of glycosylationCOG5-congenital disorder of glycosylation 健康指南 1255Bietti crystalline dystrophyBietti crystalline dystrophy 健康指南 1256Romano-Ward syndromeRomano-Ward syndrome 健康指南 1257TK2-related mitochondrial DNA depletion syndrome, myopathic formTK2-related mitochondrial DNA depletion syndrome, myopathic form 健康指南 1258Erythrokeratodermia variabilis et progressivaErythrokeratodermia variabilis et progressiva 健康指南 1259Propionic acidemiaPropionic acidemia 健康指南 1260HyperprolinemiaHyperprolinemia 健康指南 1261MonilethrixMonilethrix 健康指南 1262Adult polyglucosan body diseaseAdult polyglucosan body disease 健康指南 1263Ophthalmo-acromelic syndromeOphthalmo-acromelic syndrome 健康指南 1264X-linked adrenal hypoplasia congenitaX-linked adrenal hypoplasia congenita 健康指南 1265Refsum diseaseRefsum disease 健康指南 1266Vohwinkel syndromeVohwinkel syndrome 健康指南 1267Color vision deficiencyColor vision deficiency 健康指南 1268DesmosterolosisDesmosterolosis 健康指南 1269Wagner syndromeWagner syndrome 健康指南 1270ALG6-congenital disorder of glycosylationALG6-congenital disorder of glycosylation 健康指南 1271Mucolipidosis III alpha/betaMucolipidosis III alpha/beta 健康指南 1272Neuropathy, ataxia, and retinitis pigmentosaNeuropathy, ataxia, and retinitis pigmentosa 健康指南 1273Paramyotonia congenitaParamyotonia congenita 健康指南 1274Ring chromosome 14 syndromeRing chromosome 14 syndrome 健康指南 1275Frasier syndromeFrasier syndrome 健康指南 1276Rippling muscle diseaseRippling muscle disease 健康指南 1277Boomerang dysplasiaBoomerang dysplasia 健康指南 1278Hypomagnesemia with secondary hypocalcemiaHypomagnesemia with secondary hypocalcemia 健康指南 1279Monoamine oxidase A deficiencyMonoamine oxidase A deficiency 健康指南 1280Mayer-Rokitansky-Küster-Hauser syndromeMayer-Rokitansky-Küster-Hauser syndrome 健康指南 1281Cyclic neutropeniaCyclic neutropenia 健康指南 1282Spinocerebellar ataxia type 1Spinocerebellar ataxia type 1 健康指南 1283Arginase deficiencyArginase deficiency 健康指南 1284Laing distal myopathyLaing distal myopathy 健康指南 1285Tangier diseaseTangier disease 健康指南 1286Argininosuccinic aciduriaArgininosuccinic aciduria 健康指南 1287Familial pityriasis rubra pilarisFamilial pityriasis rubra pilaris 健康指南 1288SialuriaSialuria 健康指南 1289Pyridoxine-dependent epilepsyPyridoxine-dependent epilepsy 健康指南 1290Congenital hyperinsulinismCongenital hyperinsulinism 健康指南 1291Microvillus inclusion diseaseMicrovillus inclusion disease 健康指南 1292Complement component 8 deficiencyComplement component 8 deficiency 健康指南 1293Primary macronodular adrenal hyperplasiaPrimary macronodular adrenal hyperplasia 健康指南 1294Gordon Holmes syndromeGordon Holmes syndrome 健康指南 1295AcatalasemiaAcatalasemia 健康指南 1296Molybdenum cofactor deficiencyMolybdenum cofactor deficiency 健康指南 1297Primary carnitine deficiencyPrimary carnitine deficiency 健康指南 1298Gray platelet syndromeGray platelet syndrome 健康指南 1299Nonbullous congenital ichthyosiform erythrodermaNonbullous congenital ichthyosiform erythroderma 健康指南 1300MUTYH-associated polyposisMUTYH-associated polyposis 健康指南 1301Phosphoribosylpyrophosphate synthetase superactivityPhosphoribosylpyrophosphate synthetase superactivity 健康指南 1302Hypokalemic periodic paralysisHypokalemic periodic paralysis 健康指南 1303Muenke syndromeMuenke syndrome 健康指南 1304ZAP70-related severe combined immunodeficiencyZAP70-related severe combined immunodeficiency 健康指南 1305Hutchinson-Gilford progeria syndromeHutchinson-Gilford progeria syndrome 健康指南 1306Childhood absence epilepsyChildhood absence epilepsy 健康指南 1307Weill-Marchesani syndromeWeill-Marchesani syndrome 健康指南 1308AnencephalyAnencephaly 健康指南 1309Hailey-Hailey diseaseHailey-Hailey disease 健康指南 1310OtulipeniaOtulipenia 健康指南 1311Lissencephaly with cerebellar hypoplasiaLissencephaly with cerebellar hypoplasia 健康指南 1312Pseudohypoaldosteronism type 2Pseudohypoaldosteronism type 2 健康指南 1313Tietz syndromeTietz syndrome 健康指南 1314Hartnup diseaseHartnup disease 健康指南 1315Sepiapterin reductase deficiencySepiapterin reductase deficiency 健康指南 1316CLN7 diseaseCLN7 disease 健康指南 1317X-linked infantile spinal muscular atrophyX-linked infantile spinal muscular atrophy 健康指南 1318Marinesco-Sjögren syndromeMarinesco-Sjögren syndrome 健康指南 1319Ohdo syndrome, Maat-Kievit-Brunner typeOhdo syndrome, Maat-Kievit-Brunner type 健康指南 1320Kuskokwim syndromeKuskokwim syndrome 健康指南 1321Miyoshi myopathyMiyoshi myopathy 健康指南 1322Smith-Lemli-Opitz syndromeSmith-Lemli-Opitz syndrome 健康指南 1323HomocystinuriaHomocystinuria 健康指南 1324Lynch syndromeLynch syndrome 健康指南 1325Microphthalmia with linear skin defects syndromeMicrophthalmia with linear skin defects syndrome 健康指南 1326Proximal 18q deletion syndromeProximal 18q deletion syndrome 健康指南 1327HypermethioninemiaHypermethioninemia 健康指南 1328Diastrophic dysplasiaDiastrophic dysplasia 健康指南 1329Familial HDL deficiencyFamilial HDL deficiency 健康指南 1330Gitelman syndromeGitelman syndrome 健康指南 1331Combined malonic and methylmalonic aciduriaCombined malonic and methylmalonic aciduria 健康指南 1332Familial porencephalyFamilial porencephaly 健康指南 1333X-linked infantile nystagmusX-linked infantile nystagmus 健康指南 1334MECP2 duplication syndromeMECP2 duplication syndrome 健康指南 1335Mucolipidosis III gammaMucolipidosis III gamma 健康指南 1336Arts syndromeArts syndrome 健康指南 1337Bare lymphocyte syndrome type IBare lymphocyte syndrome type I 健康指南 1338Müllerian aplasia and hyperandrogenismMüllerian aplasia and hyperandrogenism 健康指南 1339Fragile XE syndromeFragile XE syndrome 健康指南 1340Medium-chain acyl-CoA dehydrogenase deficiencyMedium-chain acyl-CoA dehydrogenase deficiency 健康指南 1341Björnstad syndromeBjörnstad syndrome 健康指南 1342Succinyl-CoA:3-ketoacid CoA transferase deficiencySuccinyl-CoA:3-ketoacid CoA transferase deficiency 健康指南 1343Meesmann corneal dystrophyMeesmann corneal dystrophy 健康指南 1344White sponge nevusWhite sponge nevus 健康指南 1345Childhood myocerebrohepatopathy spectrumChildhood myocerebrohepatopathy spectrum 健康指南 1346Fabry diseaseFabry disease 健康指南 13473-methylcrotonyl-CoA carboxylase deficiency3-methylcrotonyl-CoA carboxylase deficiency 健康指南 1348Congenital stromal corneal dystrophyCongenital stromal corneal dystrophy 健康指南 13493q29 microduplication syndrome3q29 microduplication syndrome 健康指南 1350Recombinant 8 syndromeRecombinant 8 syndrome 健康指南 1351Juvenile myoclonic epilepsyJuvenile myoclonic epilepsy 健康指南 1352Tetrahydrobiopterin deficiencyTetrahydrobiopterin deficiency 健康指南 1353Ring chromosome 20 syndromeRing chromosome 20 syndrome 健康指南 1354SUCLA2-related mitochondrial DNA depletion syndromeSUCLA2-related mitochondrial DNA depletion syndrome 健康指南 1355Central precocious pubertyCentral precocious puberty 健康指南 1356Glycogen storage disease type VIGlycogen storage disease type VI 健康指南 1357Short QT syndromeShort QT syndrome 健康指南 1358Autosomal recessive hypotrichosisAutosomal recessive hypotrichosis 健康指南 1359Li-Fraumeni syndromeLi-Fraumeni syndrome 健康指南 1360Carnitine-acylcarnitine translocase deficiencyCarnitine-acylcarnitine translocase deficiency 健康指南 1361Lamellar ichthyosisLamellar ichthyosis 健康指南 1362Maternally inherited diabetes and deafnessMaternally inherited diabetes and deafness 健康指南 1363Lesch-Nyhan syndromeLesch-Nyhan syndrome 健康指南 1364Factor VII deficiencyFactor VII deficiency 健康指南 1365Methemoglobinemia, beta-globin typeMethemoglobinemia, beta-globin type 健康指南 1366Emanuel syndromeEmanuel syndrome 健康指南 1367Peroxisomal acyl-CoA oxidase deficiencyPeroxisomal acyl-CoA oxidase deficiency 健康指南 1368Congenital afibrinogenemiaCongenital afibrinogenemia 健康指南 1369Carbamoyl phosphate synthetase I deficiencyCarbamoyl phosphate synthetase I deficiency 健康指南 1370Peutz-Jeghers syndromePeutz-Jeghers syndrome 健康指南 1371Atelosteogenesis type 1Atelosteogenesis type 1 健康指南 1372Stargardt macular degenerationStargardt macular degeneration 健康指南 1373Distal myopathy 2Distal myopathy 2 健康指南 1374Beta-mannosidosisBeta-mannosidosis 健康指南 1375Milroy diseaseMilroy disease 健康指南 1376Cerebral folate transport deficiencyCerebral folate transport deficiency 健康指南 1377Chylomicron retention diseaseChylomicron retention disease 健康指南 1378Koolen-de Vries syndromeKoolen-de Vries syndrome 健康指南 1379NGLY1-congenital disorder of deglycosylationNGLY1-congenital disorder of deglycosylation 健康指南 1380Familial hypobetalipoproteinemiaFamilial hypobetalipoproteinemia 健康指南 1381Biotinidase deficiencyBiotinidase deficiency 健康指南 1382Léri-Weill dyschondrosteosisLéri-Weill dyschondrosteosis 健康指南 1383Spondyloepiphyseal dysplasia with metatarsal shorteningSpondyloepiphyseal dysplasia with metatarsal shortening 健康指南 1384Iron-refractory iron deficiency anemiaIron-refractory iron deficiency anemia 健康指南 1385Norrie diseaseNorrie disease 健康指南 1386Lattice corneal dystrophy type ILattice corneal dystrophy type I 健康指南 1387DOLK-congenital disorder of glycosylationDOLK-congenital disorder of glycosylation 健康指南 1388Glucose-galactose malabsorptionGlucose-galactose malabsorption 健康指南 1389Fuchs endothelial dystrophyFuchs endothelial dystrophy 健康指南 1390Myoclonus-dystoniaMyoclonus-dystonia 健康指南 1391Mannose-binding lectin deficiencyMannose-binding lectin deficiency 健康指南 139215q24 microdeletion15q24 microdeletion 健康指南 1393Beta-ureidopropionase deficiencyBeta-ureidopropionase deficiency 健康指南 1394MacrozoospermiaMacrozoospermia 健康指南 1395Corticosteroid-binding globulin deficiencyCorticosteroid-binding globulin deficiency 健康指南 1396Ghosal hematodiaphyseal dysplasiaGhosal hematodiaphyseal dysplasia 健康指南 1397Legius syndromeLegius syndrome 健康指南 1398Hereditary xanthinuriaHereditary xanthinuria 健康指南 1399Thanatophoric dysplasiaThanatophoric dysplasia 健康指南 1400Alport syndromeAlport syndrome 健康指南 1401MDA5 deficiencyMDA5 deficiency 健康指南 1402Congenital bilateral absence of the vas deferensCongenital bilateral absence of the vas deferens 健康指南 1403NeuroferritinopathyNeuroferritinopathy 健康指南 1404Supravalvular aortic stenosisSupravalvular aortic stenosis 健康指南 140546,XX testicular difference of sex development46,XX testicular difference of sex development 健康指南 1406Dubin-Johnson syndromeDubin-Johnson syndrome 健康指南 1407Amish lethal microcephalyAmish lethal microcephaly 健康指南 1408Chanarin-Dorfman syndromeChanarin-Dorfman syndrome 健康指南 1409Meige diseaseMeige disease 健康指南 1410Pyle diseasePyle disease 健康指南 1411Eosinophil peroxidase deficiencyEosinophil peroxidase deficiency 健康指南 1412Birt-Hogg-Dubé syndromeBirt-Hogg-Dubé syndrome 健康指南 1413Menkes syndromeMenkes syndrome 健康指南 1414Spinal and bulbar muscular atrophySpinal and bulbar muscular atrophy 健康指南 1415Crouzon syndromeCrouzon syndrome 健康指南 1416Jackson-Weiss syndromeJackson-Weiss syndrome 健康指南 1417Ellis-van Creveld syndromeEllis-van Creveld syndrome 健康指南 1418Ethylmalonic encephalopathyEthylmalonic encephalopathy 健康指南 1419X-linked creatine deficiencyX-linked creatine deficiency 健康指南 1420Hystrix-like ichthyosis with deafnessHystrix-like ichthyosis with deafness 健康指南 1421Allan-Herndon-Dudley syndromeAllan-Herndon-Dudley syndrome 健康指南 1422Fumarase deficiencyFumarase deficiency 健康指南 1423Guanidinoacetate methyltransferase deficiencyGuanidinoacetate methyltransferase deficiency 健康指南 1424Methylmalonic acidemiaMethylmalonic acidemia 健康指南 1425Factor X deficiencyFactor X deficiency 健康指南 1426Complete plasminogen activator inhibitor 1 deficiencyComplete plasminogen activator inhibitor 1 deficiency 健康指南 1427Alström syndromeAlström syndrome 健康指南 1428Adenosine monophosphate deaminase deficiencyAdenosine monophosphate deaminase deficiency 健康指南 1429Bart-Pumphrey syndromeBart-Pumphrey syndrome 健康指南 1430Hypochromic microcytic anemia with iron overloadHypochromic microcytic anemia with iron overload 健康指南 1431Van der Woude syndromeVan der Woude syndrome 健康指南 1432Prekallikrein deficiencyPrekallikrein deficiency 健康指南 1433CAV3-related distal myopathyCAV3-related distal myopathy 健康指南 1434Weyers acrofacial dysostosisWeyers acrofacial dysostosis 健康指南 1435Glutamate formiminotransferase deficiencyGlutamate formiminotransferase deficiency 健康指南 1436Succinic semialdehyde dehydrogenase deficiencySuccinic semialdehyde dehydrogenase deficiency 健康指南 1437Ichthyosis with confettiIchthyosis with confetti 健康指南 1438BunionBunion 健康指南 1439Pallister-Hall syndromePallister-Hall syndrome 健康指南 1440Potassium-aggravated myotoniaPotassium-aggravated myotonia 健康指南 1441Congenital deafness with labyrinthine aplasia, microtia, and microdontiaCongenital deafness with labyrinthine aplasia, microtia, and microdontia 健康指南 1442SADDANSADDAN 健康指南 1443Arrhythmogenic right ventricular cardiomyopathyArrhythmogenic right ventricular cardiomyopathy 健康指南 1444Dentatorubral-pallidoluysian atrophyDentatorubral-pallidoluysian atrophy 健康指南 1445Greenberg dysplasiaGreenberg dysplasia 健康指南 1446PDGFRB-associated chronic eosinophilic leukemiaPDGFRB-associated chronic eosinophilic leukemia 健康指南 1447Familial erythrocytosisFamilial erythrocytosis 健康指南 1448Aldosterone-producing adenomaAldosterone-producing adenoma 健康指南 1449SYNGAP1-related intellectual disabilitySYNGAP1-related intellectual disability 健康指南 1450Holocarboxylase synthetase deficiencyHolocarboxylase synthetase deficiency 健康指南 1451GABA-transaminase deficiencyGABA-transaminase deficiency 健康指南 1452Hereditary sensory and autonomic neuropathy type VHereditary sensory and autonomic neuropathy type V 健康指南 1453CystinuriaCystinuria 健康指南 1454X-linked intellectual disability, Siderius typeX-linked intellectual disability, Siderius type 健康指南 1455Ataxia with vitamin E deficiencyAtaxia with vitamin E deficiency 健康指南 1456Congenital leptin deficiencyCongenital leptin deficiency 健康指南 1457Atelosteogenesis type 2Atelosteogenesis type 2 健康指南 1458Rotor syndromeRotor syndrome 健康指南 1459Maple syrup urine diseaseMaple syrup urine disease 健康指南 1460Multiple cutaneous and mucosal venous malformationsMultiple cutaneous and mucosal venous malformations 健康指南 1461Brody myopathyBrody myopathy 健康指南 1462JAK3-deficient severe combined immunodeficiencyJAK3-deficient severe combined immunodeficiency 健康指南 1463Deafness and myopia syndromeDeafness and myopia syndrome 健康指南 1464Alpha-methylacyl-CoA racemase deficiencyAlpha-methylacyl-CoA racemase deficiency 健康指南 1465Stormorken syndromeStormorken syndrome 健康指南 1466Y chromosome infertilityY chromosome infertility 健康指南 1467Christianson syndromeChristianson syndrome 健康指南 1468PPP2R5D-related intellectual disabilityPPP2R5D-related intellectual disability 健康指南 1469Phosphoglycerate mutase deficiencyPhosphoglycerate mutase deficiency 健康指南 1470ChoroideremiaChoroideremia 健康指南 1471Grange syndromeGrange syndrome 健康指南 1472Liddle syndromeLiddle syndrome 健康指南 1473Beta-ketothiolase deficiencyBeta-ketothiolase deficiency 健康指南 1474Leptin receptor deficiencyLeptin receptor deficiency 健康指南 1475Vibratory urticariaVibratory urticaria 健康指南 1476Trisomy 18Trisomy 18 健康指南 1477Trisomy XTrisomy X 健康指南 1478Distal arthrogryposis type 1Distal arthrogryposis type 1 健康指南 1479Mal de MeledaMal de Meleda 健康指南 1480Autosomal recessive cerebellar ataxia type 1Autosomal recessive cerebellar ataxia type 1 健康指南 1481Langer mesomelic dysplasiaLanger mesomelic dysplasia 健康指南 1482Autosomal recessive congenital stationary night blindnessAutosomal recessive congenital stationary night blindness 健康指南 1483Aromatase excess syndromeAromatase excess syndrome 健康指南 1484Progressive osseous heteroplasiaProgressive osseous heteroplasia 健康指南 1485Townes-Brocks SyndromeTownes-Brocks Syndrome 健康指南 1486Catecholaminergic polymorphic ventricular tachycardiaCatecholaminergic polymorphic ventricular tachycardia 健康指南 1487Dystonia 6Dystonia 6 健康指南 1488Uncombable hair syndromeUncombable hair syndrome 健康指南 1489Factor V deficiencyFactor V deficiency 健康指南 1490Complement factor I deficiencyComplement factor I deficiency 健康指南 1491Bernard-Soulier syndromeBernard-Soulier syndrome 健康指南 1492Familial atrial fibrillationFamilial atrial fibrillation 健康指南 1493Autosomal dominant congenital stationary night blindnessAutosomal dominant congenital stationary night blindness 健康指南 1494Prothrombin deficiencyProthrombin deficiency 健康指南 1495Trisomy 13Trisomy 13 健康指南 1496Greig cephalopolysyndactyly syndromeGreig cephalopolysyndactyly syndrome 健康指南 1497Juvenile primary lateral sclerosisJuvenile primary lateral sclerosis 健康指南 1498UV-sensitive syndromeUV-sensitive syndrome 健康指南 1499Aminoacylase 1 deficiencyAminoacylase 1 deficiency 健康指南 1500Spinocerebellar ataxia type 6Spinocerebellar ataxia type 6 健康指南 1501Familial male-limited precocious pubertyFamilial male-limited precocious puberty 健康指南 1502Glycoprotein VI deficiencyGlycoprotein VI deficiency 健康指南 1503PPM-X syndromePPM-X syndrome 健康指南 1504Spondyloperipheral dysplasiaSpondyloperipheral dysplasia 健康指南 1505Juvenile primary osteoporosisJuvenile primary osteoporosis 健康指南 1506Arginine:glycine amidinotransferase deficiencyArginine:glycine amidinotransferase deficiency 健康指南 1507HistidinemiaHistidinemia 健康指南 1508Steatocystoma multiplexSteatocystoma multiplex 健康指南 1509Cri-du-chat syndromeCri-du-chat syndrome 健康指南 1510Fish-eye diseaseFish-eye disease 健康指南 1511Peeling skin syndrome 2Peeling skin syndrome 2 健康指南 1512Microcephaly, seizures, and developmental delayMicrocephaly, seizures, and developmental delay 健康指南 1513Nonsyndromic congenital nail disorder 10Nonsyndromic congenital nail disorder 10 健康指南 1514TrimethylaminuriaTrimethylaminuria 健康指南 1515Neutral lipid storage disease with myopathyNeutral lipid storage disease with myopathy 健康指南 1516Warsaw breakage syndromeWarsaw breakage syndrome 健康指南 1517Anonychia congenitaAnonychia congenita 健康指南 1518Palmoplantar keratoderma with deafnessPalmoplantar keratoderma with deafness 健康指南 1519Cole diseaseCole disease 健康指南 1520Isolated hyperCKemiaIsolated hyperCKemia 健康指南 1521X-linked severe combined immunodeficiencyX-linked severe combined immunodeficiency 健康指南 1522Platyspondylic dysplasia, Torrance typePlatyspondylic dysplasia, Torrance type 健康指南 1523GlobozoospermiaGlobozoospermia 健康指南 1524Malonyl-CoA decarboxylase deficiencyMalonyl-CoA decarboxylase deficiency 健康指南 1525Deafness-infertility syndromeDeafness-infertility syndrome 健康指南 1526North American Indian childhood cirrhosisNorth American Indian childhood cirrhosis 健康指南 152722q11.2 duplication22q11.2 duplication 健康指南 1528動脈瘤Aneurysms 健康指南 1529動靜脈畸形Arteriovenous Malformations 健康指南 1530頸動脈疾病Carotid Artery Disease 健康指南 1531心內膜炎Endocarditis 健康指南 1532心包疾病Pericardial Disorders 健康指南 1533休克Shock 健康指南 1534血管疾病Vascular Diseases 健康指南 1535血栓Blood Clots 健康指南 1536艾迪生病Addison Disease 健康指南 1537腎上腺疾病Adrenal Gland Disorders 健康指南 1538尿崩症Diabetes Insipidus 健康指南 1539高血糖Hyperglycemia 健康指南 1540嗜鉻細胞瘤Pheochromocytoma 健康指南 1541垂體疾病Pituitary Disorders 健康指南 1542垂體腫瘤Pituitary Tumors 健康指南 1543呼吸問題Breathing Problems 健康指南 1544吸入性損傷Inhalation Injuries 健康指南 1545呼吸衰竭Respiratory Failure 健康指南 1546氣管疾病Tracheal Disorders 健康指南 1547腹腔粘連Adhesions 健康指南 1548肛門疾病Anal Disorders 健康指南 1549大便失禁Bowel Incontinence 健康指南 1550結腸息肉Colonic Polyps 健康指南 1551嗜酸性粒細胞性食管炎Eosinophilic Esophagitis 健康指南 1552食管疾病Esophagus Disorders 健康指南 1553瘻Fistulas 健康指南 1554消化道出血Gastrointestinal Bleeding 健康指南 1555麩質敏感Gluten Sensitivity 健康指南 1556食管裂孔疝Hiatal Hernia 健康指南 1557腸梗阻Intestinal Obstruction 健康指南 1558吸收不良綜合症Malabsorption Syndromes 健康指南 1559膽管疾病Bile Duct Diseases 健康指南 1560膽囊疾病Gallbladder Diseases 健康指南 1561胰腺疾病Pancreatic Diseases 健康指南 1562膀胱疾病Bladder Diseases 健康指南 1563腎衰竭Kidney Failure 健康指南 1564輸尿管疾病Ureteral Disorders 健康指南 1565尿道疾病Urethral Disorders 健康指南 1566聽神經瘤Acoustic Neuroma 健康指南 1567急性弛緩性脊髓炎Acute Flaccid Myelitis 健康指南 1568失語症Aphasia 健康指南 1569臂叢神經損傷Brachial Plexus Injuries 健康指南 1570Chiari 畸形Chiari Malformation 健康指南 1571昏迷Coma 健康指南 1572痴呆Dementia 健康指南 1573頭暈與眩暈Dizziness and Vertigo 健康指南 1574肌張力障礙Dystonia 健康指南 1575腦炎Encephalitis 健康指南 1576輕度認知障礙Mild Cognitive Impairment 健康指南 1577運動障礙Movement Disorders 健康指南 1578癱瘓Paralysis 健康指南 1579癲癇發作Seizures 健康指南 1580脊髓損傷Spinal Cord Injuries 健康指南 1581創傷性腦損傷Traumatic Brain Injury 健康指南 1582賭博障礙Compulsive Gambling 健康指南 1583學習障礙Learning Disabilities 健康指南 1584心境障礙Mood Disorders 健康指南 1585恐懼症Phobias 健康指南 1586精神病性障礙Psychotic Disorders 健康指南 1587自傷Self-Harm 健康指南 1588關節炎Arthritis 健康指南 1589骨病Bone Diseases 健康指南 1590骨感染Bone Infections 健康指南 1591軟骨疾病Cartilage Disorders 健康指南 1592椎間盤突出Herniated Disk 健康指南 1593感染性關節炎Infectious Arthritis 健康指南 1594關節疾病Joint Disorders 健康指南 1595肌炎Myositis 健康指南 1596骨壞死Osteonecrosis 健康指南 1597佝僂病Rickets 健康指南 1598踝關節損傷與疾病Ankle Injuries and Disorders 健康指南 1599背部損傷Back Injuries 健康指南 1600足部損傷與疾病Foot Injuries and Disorders 健康指南 1601膝關節損傷與疾病Knee Injuries and Disorders 健康指南 1602扭傷與拉傷Sprains and Strains 健康指南 1603肌腱炎Tendinitis 健康指南 1604腕部損傷與疾病Wrist Injuries and Disorders 健康指南 1605足癬（腳氣）Athlete's Foot 健康指南 1606胎記Birthmarks 健康指南 1607水皰Blisters 健康指南 1608雞眼與胼胝Corns and Calluses 健康指南 1609脫發Hair Loss 健康指南 1610瘙癢Itching 健康指南 1611壓力性損傷Pressure Sores 健康指南 1612皮膚感染Skin Infections 健康指南 1613癬菌感染Tinea Infections 健康指南 1614疣Warts 健康指南 1615禽流感Bird Flu 健康指南 1616艱難梭菌感染C. diff Infections 健康指南 1617彎曲菌感染Campylobacter Infections 健康指南 1618基孔肯雅熱Chikungunya 健康指南 1619巨細胞病毒感染Cytomegalovirus Infections 健康指南 1620大腸桿菌感染E. coli Infections 健康指南 1621埃博拉病毒病Ebola 健康指南 1622賈第蟲感染Giardia Infections 健康指南 1623淋病Gonorrhea 健康指南 1624甲型 H1N1 流感H1N1 Flu (Swine Flu) 健康指南 1625李斯特菌感染Listeria Infections 健康指南 1626瘧疾Malaria 健康指南 1627腦膜炎Meningitis 健康指南 1628耐甲氧西林金黃色葡萄球菌感染MRSA 健康指南 1629諾如病毒感染Norovirus Infections 健康指南 1630肺孢子菌感染Pneumocystis Infections 健康指南 1631輪狀病毒感染Rotavirus Infections 健康指南 1632沙門菌感染Salmonella Infections 健康指南 1633球孢子菌病Valley Fever 健康指南 1634西尼羅病毒感染West Nile Virus 健康指南 1635念珠菌感染Yeast Infections 健康指南 1636寨卡病毒感染Zika Virus 健康指南 1637宮頸疾病Cervix Disorders 健康指南 1638卵巢疾病Ovarian Disorders 健康指南 1639盆底疾病Pelvic Floor Disorders 健康指南 1640子宮疾病Uterine Diseases 健康指南 1641陰道疾病Vaginal Diseases 健康指南 1642陰莖疾病Penis Disorders 健康指南 1643前列腺疾病Prostate Diseases 健康指南 1644睪丸疾病Testicular Disorders 健康指南 1645急性淋巴細胞白血病Acute Lymphocytic Leukemia 健康指南 1646急性髓系白血病Acute Myeloid Leukemia 健康指南 1647腎上腺癌Adrenal Gland Cancer 健康指南 1648肛門癌Anal Cancer 健康指南 1649腦腫瘤Brain Tumors 健康指南 1650類癌腫瘤Carcinoid Tumors 健康指南 1651慢性淋巴細胞白血病Chronic Lymphocytic Leukemia 健康指南 1652膽囊癌Gallbladder Cancer 健康指南 1653小腸癌Intestinal Cancer 健康指南 1654卡波西肉瘤Kaposi Sarcoma 健康指南 1655間皮瘤Mesothelioma 健康指南 1656口腔癌Oral Cancer 健康指南 1657皮膚癌Skin Cancer 健康指南 1658軟組織肉瘤Soft Tissue Sarcoma 健康指南 1659睪丸癌Testicular Cancer 健康指南 1660胸腺癌Thymus Cancer 健康指南 1661陰道癌Vaginal Cancer 健康指南 1662外陰癌Vulvar Cancer 健康指南 1663弱視Amblyopia 健康指南 1664角膜疾病Corneal Disorders 健康指南 1665眼部感染Eye Infections 健康指南 1666眼外傷Eye Injuries 健康指南 1667眼球運動障礙Eye Movement Disorders 健康指南 1668視神經疾病Optic Nerve Disorders 健康指南 1669視網膜疾病Retinal Disorders 健康指南 1670口臭Bad Breath 健康指南 1671平衡障礙Balance Problems 健康指南 1672氣壓傷Barotrauma 健康指南 1673耳部疾病Ear Disorders 健康指南 1674口腔疾病Mouth Disorders 健康指南 1675鼻腔癌Nasal Cancer 健康指南 1676唾液腺疾病Salivary Gland Disorders 健康指南 1677味覺與嗅覺障礙Taste and Smell Disorders 健康指南 1678咽喉疾病Throat Disorders 健康指南 1679牙齒疾病Tooth Disorders 健康指南 1680聲音障礙Voice Disorders 健康指南 1681自身免疫性疾病Autoimmune Diseases 健康指南 1682出血性疾病Bleeding Disorders 健康指南 1683骨髓疾病Bone Marrow Diseases 健康指南 1684嗜酸性粒細胞疾病Eosinophilic Disorders 健康指南 1685乳膠過敏Latex Allergy 健康指南 1686淋巴系統疾病Lymphatic Diseases 健康指南 1687淋巴水腫Lymphedema 健康指南 1688血小板疾病Platelet Disorders 健康指南 1689脾臟疾病Spleen Diseases 健康指南