질환 A–Z

01 고혈압Hypertension 안내서→ 02 고혈압성 심장질환Hypertensive Heart Disease 안내서→ 03 관상동맥질환Coronary Artery Disease 안내서→ 04 불안정 협심증Angina 안내서→ 05 심근경색Heart Attack / Myocardial Infarction 안내서→ 06 부정맥Arrhythmia 안내서→ 07 심방세동Atrial Fibrillation 안내서→ 08 울혈성 심부전Heart Failure 안내서→ 09 죽상경화증Atherosclerosis 안내서→ 10 말초동맥질환Peripheral Artery Disease 안내서→ 11 심부정맥혈전증Deep Vein Thrombosis 안내서→ 12 감기Common cold 안내서→ 13 급성 인두염Acute Pharyngitis 안내서→ 14 급성 기관지염Acute Bronchitis 안내서→ 15 만성 기관지염Chronic bronchitis 안내서→ 16 만성 폐쇄성 폐질환Chronic obstructive pulmonary disease (COPD) 안내서→ 17 천식Asthma 안내서→ 18 폐렴Pneumonia 안내서→ 19 간질성 폐질환Interstitial Lung Diseases 안내서→ 20 폐기종Emphysema 안내서→ 21 기관지확장증Bronchiectasis 안내서→ 22 늑막염Pleurisy 안내서→ 23 위식도 역류질환Gastroesophageal reflux disease (GERD) 안내서→ 24 소화성 궤양Peptic ulcer disease 안내서→ 25 과민성 장 증후군Irritable Bowel Syndrome 안내서→ 26 변비Constipation 안내서→ 27 대사이상 관련 지방간질환(MASLD)MASLD 안내서→ 28 담석Gallstones 안내서→ 29 담낭염Cholecystitis 안내서→ 30 치핵Hemorrhoids 안내서→ 31 제2형 당뇨병Type 2 diabetes 안내서→ 32 인슐린 의존형 당뇨병Type 1 Diabetes 안내서→ 33 당뇨병성 망막병증Diabetic Retinopathy 안내서→ 34 갑상샘 항진증Hyperthyroidism 안내서→ 35 갑상샘저하증Hypothyroidism 안내서→ 36 통풍Gout 안내서→ 37 고콜레스테롤혈증·고지혈증High Cholesterol / Hyperlipidemia 안내서→ 38 비만증Obesity 안내서→ 39 골다공증Osteoporosis 안내서→ 40 요로감염증Urinary Tract Infection 안내서→ 41 일과성 허혈발작Transient Ischemic Attack 안내서→ 42 허혈성 뇌졸중Ischemic stroke 안내서→ 43 출혈성 뇌졸중Hemorrhagic Stroke 안내서→ 44 편두통Migraine 안내서→ 45 긴장성 두통Tension-Type Headache 안내서→ 46 삼차신경통Trigeminal neuralgia 안내서→ 47 벨마비Bell Palsy 안내서→ 48 좌골신경통Sciatica 안내서→ 49 파킨슨병Parkinson Disease 안내서→ 50 알츠하이머병Alzheimer Disease 안내서→ 51 뇌전증Epilepsy 안내서→ 52 수면 무호흡증Sleep Apnea 안내서→ 53 말초신경증Peripheral Neuropathy 안내서→ 54 길랭-바레증후군Guillain-Barré syndrome 안내서→ 55 다발경화증Multiple Sclerosis 안내서→ 56 중증근무력증Myasthenia Gravis 안내서→ 57 철분결핍성 빈혈Iron-Deficiency Anemia 안내서→ 58 면역혈소판감소증Immune Thrombocytopenia 안내서→ 59 호지킨 림프종Hodgkin lymphoma 안내서→ 60 류마티스 관절염Rheumatoid arthritis 안내서→ 61 강직성 척주염Ankylosing Spondylitis 안내서→ 62 전신 홍반성 루푸스Systemic Lupus Erythematosus 안내서→ 63 쇼그렌 증후군Sjogren Syndrome 안내서→ 64 건선성 관절염Psoriatic Arthritis 안내서→ 65 패혈증Sepsis 안내서→ 66 아나필락시스Anaphylaxis 안내서→ 67 충수염Appendicitis 안내서→ 68 화상Burns 안내서→ 69 멍과 타박상Bruises 안내서→ 70 요로결석Kidney stones 안내서→ 71 양성 전립샘 비대증Benign Prostatic Hyperplasia 안내서→ 72 전립샘염Prostatitis 안내서→ 73 정계정맥류Varicocele 안내서→ 74 정맥류Varicose Veins 안내서→ 75 봉와직염Cellulitis 안내서→ 76 농양Abscess 안내서→ 77 갑상샘암Thyroid Cancer 안내서→ 78 수근관 증후군Carpal Tunnel Syndrome 안내서→ 79 테니스 엘보Tennis Elbow 안내서→ 80 반월상연골 손상Meniscus Injury 안내서→ 81 탈구Dislocations 안내서→ 82 어깨관절 탈구Dislocated Shoulder 안내서→ 83 윤활낭염Bursitis 안내서→ 84 질염Vaginitis 안내서→ 85 골반염Pelvic Inflammatory Disease 안내서→ 86 자궁근종Uterine Fibroids 안내서→ 87 난소낭종Ovarian Cysts 안내서→ 88 다낭성 난소증후군PCOS 안내서→ 89 자궁선근증Adenomyosis 안내서→ 90 폐경이행기와 폐경Perimenopause and Menopause 안내서→ 91 자궁외임신Ectopic Pregnancy 안내서→ 92 조기 난소 부전Primary Ovarian Insufficiency 안내서→ 93 자궁내막증Endometriosis 안내서→ 94 수족구병Hand, Foot and Mouth Disease 안내서→ 95 두드러기Urticaria 안내서→ 96 주의력결핍 과다행동장애ADHD 안내서→ 97 가와사키병Kawasaki disease 안내서→ 98 열성경련Febrile Seizures 안내서→ 99 신생아 황달Neonatal Jaundice 안내서→ 100 뇌성마비Cerebral Palsy 안내서→ 101 안구건조증Dry Eye Disease 안내서→ 102 결막염Conjunctivitis 안내서→ 103 콩다래끼Chalazion 안내서→ 104 백내장Cataract 안내서→ 105 녹내장Glaucoma 안내서→ 106 노안Presbyopia 안내서→ 107 망막 박리Retinal Detachment 안내서→ 108 노화성 황반변성Age-Related Macular Degeneration 안내서→ 109 알레르기 비염Allergic Rhinitis 안내서→ 110 부비강염Sinusitis 안내서→ 111 중이염Otitis Media 안내서→ 112 이명Tinnitus 안내서→ 113 양성자세현훈BPPV 안내서→ 114 치주염Periodontitis 안내서→ 115 아프타성 구내염Canker Sores 안내서→ 116 치아우식증Dental Caries 안내서→ 117 턱관절장애TMJ Disorders 안내서→ 118 접촉 피부염Contact Dermatitis 안내서→ 119 여드름Acne 안내서→ 120 주사Rosacea 안내서→ 121 대상포진Shingles 안내서→ 122 백반증Vitiligo 안내서→ 123 건선Psoriasis 안내서→ 124 원형 탈모증Alopecia Areata 안내서→ 125 옴Scabies 안내서→ 126 매독Syphilis 안내서→ 127 생식기 사마귀Genital warts 안내서→ 128 범불안장애Generalized Anxiety Disorder 안내서→ 129 주요우울장애Major depressive disorder 안내서→ 130 강박장애Obsessive-Compulsive Disorder 안내서→ 131 공황장애Panic Disorder 안내서→ 132 양극성 장애Bipolar Disorder 안내서→ 133 조현병Schizophrenia 안내서→ 134 신경성 식욕부진증Anorexia Nervosa 안내서→ 135 외상 후 스트레스 장애PTSD 안내서→ 136 성격장애Personality Disorders 안내서→ 137 베체트병Behçet disease 안내서→ 138 거대세포동맥염Giant cell arteritis 안내서→ 139 육아종증 다발혈관염Granulomatosis with polyangiitis 안내서→ 140 전신경화증Systemic scleroderma 안내서→ 141 항인지질증후군Antiphospholipid syndrome 안내서→ 142 섬유근육통Fibromyalgia 안내서→ 143 인플루엔자Influenza (flu) 안내서→ 144 코로나바이러스감염증-19COVID-19 안내서→ 145 수두Chickenpox 안내서→ 146 유행성 이하선염Mumps 안내서→ 147 Helicobacter pylori 감염Helicobacter pylori Infections 안내서→ 148 B형 간염Hepatitis B 안내서→ 149 풍진Rubella 안내서→ 150 홍역Measles 안내서→ 151 뎅기바이러스Dengue 안내서→ 152 결핵Tuberculosis 안내서→ 153 폐암Lung cancer 안내서→ 154 위암Stomach Cancer 안내서→ 155 대장암Colorectal Cancer 안내서→ 156 간암Liver Cancer 안내서→ 157 유방암Breast cancer 안내서→ 158 자궁경부암Cervical Cancer 안내서→ 159 전립샘암Prostate Cancer 안내서→ 160 식도암Esophageal Cancer 안내서→ 161 난소암Ovarian Cancer 안내서→ 162 췌장암Pancreatic Cancer 안내서→ 163 방광암Bladder cancer 안내서→ 164 신장암Kidney Cancer 안내서→ 165 자궁내막암Endometrial Cancer 안내서→ 166 림프종Lymphoma 안내서→ 167 백혈병Leukemia 안내서→ 168 다발성 골수종Multiple myeloma 안내서→ 169 급성 콩팥손상Acute Kidney Injury 안내서→ 170 골절Fractures 안내서→ 171 급성 심정지Sudden Cardiac Arrest 안내서→ 172 심장판막증Heart Valve Disease 안내서→ 173 심근증Cardiomyopathy 안내서→ 174 뇌졸중Stroke 안내서→ 175 뇌동맥류Brain Aneurysm 안내서→ 176 폐색전증Pulmonary Embolism 안내서→ 177 대동맥류Aortic Aneurysm 안내서→ 178 레이노 현상Raynaud Phenomenon 안내서→ 179 기립성 저혈압Orthostatic Hypotension 안내서→ 180 기립성 빈맥 증후군POTS 안내서→ 181 당뇨병 전단계Prediabetes 안내서→ 182 임신당뇨병Gestational Diabetes 안내서→ 183 대사 증후군Metabolic Syndrome 안내서→ 184 자가 면역 갑상샘염Hashimoto Thyroiditis 안내서→ 185 그레이브스병Graves Disease 안내서→ 186 폐쇄성 수면무호흡증Obstructive Sleep Apnea 안내서→ 187 폐섬유증Pulmonary Fibrosis 안내서→ 188 폐고혈압Pulmonary Hypertension 안내서→ 189 위염Gastritis 안내서→ 190 크론병Crohn Disease 안내서→ 191 궤양성 대장염Ulcerative Colitis 안내서→ 192 실리악 스프루Celiac Disease 안내서→ 193 게실질환Diverticular Disease 안내서→ 194 장염Gastroenteritis 안내서→ 195 C형 간염Hepatitis C 안내서→ 196 간경화증Cirrhosis 안내서→ 197 췌장염Pancreatitis 안내서→ 198 혈색소증Hemochromatosis 안내서→ 199 만성 콩팥병Chronic kidney disease 안내서→ 200 과민성 방광Overactive Bladder 안내서→ 201 요실금Urinary Incontinence 안내서→ 202 간질성 방광염Interstitial Cystitis 안내서→ 203 본태성진전Essential Tremor 안내서→ 204 자폐 스펙트럼Autism Spectrum Disorder 안내서→ 205 불면장애Insomnia Disorder 안내서→ 206 골관절염Osteoarthritis 안내서→ 207 요통Low Back Pain 안내서→ 208 오십견Frozen Shoulder 안내서→ 209 회전근개 손상Rotator Cuff Injury 안내서→ 210 족저 근막염Plantar Fasciitis 안내서→ 211 아킬레스건병증Achilles Tendinopathy 안내서→ 212 전방십자인대부상ACL Injury 안내서→ 213 뇌진탕Concussion 안내서→ 214 복합부위 통증 증후군CRPS 안내서→ 215 아토피 피부염Atopic Dermatitis 안내서→ 216 피부 진균감염Fungal Skin Infection 안내서→ 217 만성 코로나Long COVID 안내서→ 218 후천성 면역 결핍 증후군HIV/AIDS 안내서→ 219 인간 유두종바이러스HPV Infection 안내서→ 220 단순포진Herpes Simplex 안내서→ 221 라임병Lyme Disease 안내서→ 222 감염성 단핵구증Infectious Mononucleosis 안내서→ 223 외음통Vulvodynia 안내서→ 224 월경전증후군PMS 안내서→ 225 월경전불쾌장애PMDD 안내서→ 226 여성 난임Female Infertility 안내서→ 227 남성 난임Male Infertility 안내서→ 228 발기부전Erectile Dysfunction 안내서→ 229 조루Premature Ejaculation 안내서→ 230 남성 성선기능저하증Male Hypogonadism 안내서→ 231 페이로니병Peyronie Disease 안내서→ 232 전자간증Preeclampsia 안내서→ 233 산후우울증Postpartum Depression 안내서→ 234 흑색종Melanoma 안내서→ 235 근시Myopia 안내서→ 236 원추각막Keratoconus 안내서→ 237 포도막염Uveitis 안내서→ 238 청각 장애Hearing Loss 안내서→ 239 편도염Tonsillitis 안내서→ 240 비타민 B12 결핍빈혈Vitamin B12 Deficiency Anemia 안내서→ 241 겸형 적혈구 빈혈증Sickle Cell Disease 안내서→ 242 지중해빈혈Thalassemia 안내서→ 243 혈우병Hemophilia 안내서→ 244 호중구감소증Neutropenia 안내서→ 245 식품 알레르기Food Allergy 안내서→ 246 호흡기세포융합바이러스 감염RSV Infection 안내서→ 247 크룹Croup 안내서→ 248 선천성 심장병Congenital Heart Disease 안내서→ 249 청소년 특발성 척추측만증Adolescent Idiopathic Scoliosis 안내서→ 250 야뇨증Nocturnal Enuresis 안내서→ 251 고관절 이형성증Developmental Dysplasia of the Hip 안내서→ 252 콜레라Cholera 안내서→ 253 진행성 핵상마비Progressive supranuclear palsy 안내서→ 254 천포창Pemphigus 안내서→ 255 류마티스성 다발근통Polymyalgia rheumatica 안내서→ 256 낙태Abortion 안내서→ 257 저체온증Hypothermia 안내서→ 258 보툴리누스 중독Botulism 안내서→ 259 승모판 탈출증Mitral valve prolapse 안내서→ 260 폐경Menopause 안내서→ 261 척추갈림증Spina bifida 안내서→ 262 멀미Motion sickness 안내서→ 263 크립토스포리디움증Cryptosporidiosis 안내서→ 264 혈관염Vasculitis 안내서→ 265 섬망Delirium 안내서→ 266 프리드라이히운동실조(보통염색체열성)Friedreich ataxia 안내서→ 267 척추측만증Scoliosis 안내서→ 268 트리코모나스증Trichomoniasis 안내서→ 269 비타민 D 결핍증Vitamin D deficiency 안내서→ 270 투렛 증후군Tourette syndrome 안내서→ 271 낭포성 섬유증Cystic fibrosis 안내서→ 272 척추관협착증Spinal stenosis 안내서→ 273 페닐케톤뇨증Phenylketonuria 안내서→ 274 백질디스트로피Leukodystrophies 안내서→ 275 농가진Impetigo 안내서→ 276 화농성한선염Hidradenitis suppurativa 안내서→ 277 페스트Plague 안내서→ 278 탄저Anthrax 안내서→ 279 사르코이드증Sarcoidosis 안내서→ 280 묘소병Cat-scratch disease 안내서→ 281 백일해Whooping cough 안내서→ 282 파상풍Tetanus 안내서→ 283 디프테리아Diphtheria 안내서→ 284 레지오넬라병Legionnaires disease 안내서→ 285 수막구균성 수막염Meningococcal disease 안내서→ 286 광견병Rabies 안내서→ 287 근위축성 측색 경화증Amyotrophic lateral sclerosis 안내서→ 288 척수성 근위축증Spinal muscular atrophy 안내서→ 289 천연두Smallpox 안내서→ 290 엠폭스Mpox 안내서→ 291 근디스트로피Muscular dystrophy 안내서→ 292 아스페르길루스증Aspergillosis 안내서→ 293 히스토플라스마증Histoplasmosis 안내서→ 294 샤가스병Chagas disease 안내서→ 295 리슈만편모충증Leishmaniasis 안내서→ 296 알파-1-항트립신결핍Alpha-1-antitrypsin deficiency 안내서→ 297 톡소플라스마증Toxoplasmosis 안내서→ 298 불완전골형성Osteogenesis imperfecta 안내서→ 299 젖당불내증Lactose intolerance 안내서→ 300 윌슨병Wilson disease 안내서→ 301 탈수Dehydration 안내서→ 302 아밀로이드증Amyloidosis 안내서→ 303 수두증Hydrocephalus 안내서→ 304 마르팡증후군Marfan syndrome 안내서→ 305 엘러스-단로스증후군Ehlers-Danlos syndrome 안내서→ 306 라이 증후군Reye syndrome 안내서→ 307 결절성 경화증Tuberous sclerosis 안내서→ 308 어셔 증후군Usher syndrome 안내서→ 309 터너 증후군Turner syndrome 안내서→ 310 클라인펠터 증후군Klinefelter syndrome 안내서→ 311 프라더-윌리 증후군Prader-Willi syndrome 안내서→ 312 레트증후군Rett syndrome 안내서→ 313 구강건조증Xerostomia 안내서→ 314 난시Astigmatism 안내서→ 315 치주질환Periodontal disease 안내서→ 316 마이어 증후군Myhre syndrome 안내서→ 317 아이카디-구티에레스 증후군Aicardi-Goutières syndrome 안내서→ 318 복벽 결손Abdominal wall defect 안내서→ 319 Pol III-관련 백질디스트로피Pol III-related leukodystrophy 안내서→ 320 15q11-q13 중복 증후군15q11-q13 duplication syndrome 안내서→ 321 샤르코-마리-투스질환Charcot-Marie-Tooth disease 안내서→ 322 자가면역 다발내분비병증-칸디다증-외배엽성 디스트로피Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 안내서→ 323 Multiminicore 질환Multiminicore disease 안내서→ 324 뇌전증-실어증 스펙트럼Epilepsy-aphasia spectrum 안내서→ 325 볼프람 증후군Wolfram syndrome 안내서→ 326 섬모체, 원발성 이상운동증Primary ciliary dyskinesia 안내서→ 327 랑게르한스세포 조직구증Langerhans cell histiocytosis 안내서→ 328 부신백질형성장애[애디슨-쉴더]X-linked adrenoleukodystrophy 안내서→ 329 누난 증후군Noonan syndrome 안내서→ 330 다발성 흑자 증후군Noonan syndrome with multiple lentigines 안내서→ 331 색소성 건피증Xeroderma pigmentosum 안내서→ 332 비증후군성 전전뇌증(全前腦症)Nonsyndromic holoprosencephaly 안내서→ 333 Caudal regression 증후군Caudal regression syndrome 안내서→ 334 발덴스트롬 거대글로불린혈증Waldenström macroglobulinemia 안내서→ 335 국소성 피부 형성저하Focal dermal hypoplasia 안내서→ 336 촤지 증후군CHARGE syndrome 안내서→ 337 선천형l 전신성 지방디스트로피Congenital generalized lipodystrophy 안내서→ 338 TRNT1 결핍증TRNT1 deficiency 안내서→ 339 TUBB4A-관련 백질디스트로피TUBB4A-related leukodystrophy 안내서→ 340 운동실조 동반 안구운동행위상실증Ataxia with oculomotor apraxia 안내서→ 341 바르트 증후군Barth syndrome 안내서→ 342 카펜터 증후군Carpenter syndrome 안내서→ 343 보링-오피츠 증후군Bohring-Opitz syndrome 안내서→ 344 소아 특발성 관절염Juvenile idiopathic arthritis 안내서→ 345 니콜라이데스-바라이서 증후군Nicolaides-Baraitser syndrome 안내서→ 346 뇌-폐-갑상선 증후군Brain-lung-thyroid syndrome 안내서→ 347 이염성 백질디스트로피Metachromatic leukodystrophy 안내서→ 348 Ⅱ형 점액다당류증Mucopolysaccharidosis type II 안내서→ 349 Hajdu-Cheney 증후군Hajdu-Cheney syndrome 안내서→ 350 이영양성 수포성 표피박리증Dystrophic epidermolysis bullosa 안내서→ 351 나병Leprosy 안내서→ 352 콜라겐 VI-관련 디스트로피Collagen VI-related dystrophy 안내서→ 353 맥쿤-올브라이트 증후군McCune-Albright syndrome 안내서→ 354 RAB18 결핍증RAB18 deficiency 안내서→ 355 댄디워커 증후군Dandy-Walker malformation 안내서→ 356 클리펠-파일증후군Klippel-Feil syndrome 안내서→ 357 중격-시신경형성이상Septo-optic dysplasia 안내서→ 358 트랜스티레틴 아밀로이드osisTransthyretin amyloidosis 안내서→ 359 선천성 각화이상증Dyskeratosis congenita 안내서→ 360 베타-프로펠러 단백질 연관 신경변성Beta-propeller protein-associated neurodegeneration 안내서→ 361 코스텔로 증후군Costello syndrome 안내서→ 362 Shwachman-Diamond 증후군Shwachman-Diamond syndrome 안내서→ 363 Freeman-Sheldon 증후군Freeman-Sheldon syndrome 안내서→ 364 48,XXYY 증후군48,XXYY syndrome 안내서→ 365 유전성 부신경절종-갈색세포종Hereditary paraganglioma-pheochromocytoma 안내서→ 366 PLCG2-관련 항체 결핍증 및 면역조절이상PLCG2-associated antibody deficiency and immune dysregulation 안내서→ 367 리소좀산지질분해효소 결핍증Lysosomal acid lipase deficiency 안내서→ 368 스터지-베버(-디미트리) 증후군Sturge-Weber syndrome 안내서→ 369 가족성 흉부 대동맥동맥류 및 박리Familial thoracic aortic aneurysm and dissection 안내서→ 370 시알산증[뮤코지질증Ⅰ]Sialidosis 안내서→ 371 17 알파-수산화효소/17,20-분해효소 결핍증17 alpha-hydroxylase/17,20-lyase deficiency 안내서→ 372 카르니틴팔미토일전이효소 II 결핍증Carnitine palmitoyltransferase II deficiency 안내서→ 373 디조지 증후군22q11.2 deletion syndrome 안내서→ 374 만성 (소아기) 육아종성 질환Chronic granulomatous disease 안내서→ 375 유전성 혈관병증 동반 신장병증, 동맥류, 및 근육경련 증후군Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 안내서→ 376 알코올 의존증Alcohol use disorder 안내서→ 377 글리코젠축적병 IV형Glycogen storage disease type IV 안내서→ 378 피부이완증Cutis laxa 안내서→ 379 저연령대 성숙기발병당뇨병Maturity-onset diabetes of the young 안내서→ 380 로이-디에츠 증후군Loeys-Dietz syndrome 안내서→ 381 Hennekam 증후군Hennekam syndrome 안내서→ 382 단순 수포성 표피박리증Epidermolysis bullosa simplex 안내서→ 383 카니 복합증Carney complex 안내서→ 384 가족성 선종성 용종증Familial adenomatous polyposis 안내서→ 385 뒤퓌트랑 구축Dupuytren contracture 안내서→ 386 시신경척수염[데빅병]Neuromyelitis optica 안내서→ 387 조직구증-림프절병증 plus 증후군Histiocytosis-lymphadenopathy plus syndrome 안내서→ 388 우르바흐-비테 증후군Lipoid proteinosis 안내서→ 389 점액다당류증 III형Mucopolysaccharidosis type III 안내서→ 390 유전성 강직성 하반신마비 49형Spastic paraplegia type 49 안내서→ 391 주기성 구토 증후군Cyclic vomiting syndrome 안내서→ 392 중심핵 병Central core disease 안내서→ 393 포르피린증Porphyria 안내서→ 394 연골-hair 형성저하Cartilage-hair hypoplasia 안내서→ 395 골화석증Osteopetrosis 안내서→ 396 거대 선천형l 멜라닌세포모반Giant congenital melanocytic nevus 안내서→ 397 색소피부증 동반 호중구감소증Poikiloderma with neutropenia 안내서→ 398 메발론산 키나아제 결핍 [고면역글로불린D증후군]Mevalonate kinase deficiency 안내서→ 399 Ⅰ형 점액다당류증Mucopolysaccharidosis type I 안내서→ 400 GM₁-강글리오시드증GM1 gangliosidosis 안내서→ 401 면역조절이상, 다발내분비병증, 장병증, X-연관 증후군Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome 안내서→ 402 49,XXXXY 증후군49,XXXXY syndrome 안내서→ 403 내장배열이상 증후군Heterotaxy syndrome 안내서→ 404 Woodhouse-Sakati 증후군Woodhouse-Sakati syndrome 안내서→ 405 Bannayan-Riley-Ruvalcaba 증후군Bannayan-Riley-Ruvalcaba syndrome 안내서→ 406 Trichothio디스트로피Trichothiodystrophy 안내서→ 407 Pallister-Killian 모자이크 증후군Pallister-Killian mosaic syndrome 안내서→ 408 근긴장이상을 동반한 고망간혈증Hypermanganesemia with dystonia 안내서→ 409 Lacrimo-auriculo-dento-digital 증후군Lacrimo-auriculo-dento-digital syndrome 안내서→ 410 유전성 신경통성 근위축Hereditary neuralgic amyotrophy 안내서→ 411 피트 홉킨스 증후군Pitt-Hopkins syndrome 안내서→ 412 복합 뇌하수체 호르몬 결핍증Combined pituitary hormone deficiency 안내서→ 413 유전성 뇌 아밀로이드 혈관병증Hereditary cerebral amyloid angiopathy 안내서→ 414 다운 증후군Down syndrome 안내서→ 415 티로신 수산화효소 결핍증Tyrosine hydroxylase deficiency 안내서→ 416 레녹스-가스토증후군Lennox-Gastaut syndrome 안내서→ 417 교뇌소뇌 형성저하Pontocerebellar hypoplasia 안내서→ 418 젤웨거 증후군Zellweger spectrum disorder 안내서→ 419 Osteoglophonic 형성이상Osteoglophonic dysplasia 안내서→ 420 Ankyloblepharon-외배엽성 defects-cleft lip/palate 증후군Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 안내서→ 421 Vici 증후군Vici syndrome 안내서→ 422 글리코젠축적병 I형Glycogen storage disease type I 안내서→ 423 미토콘드리아 복합체 V 결핍증Mitochondrial complex V deficiency 안내서→ 424 SLC4A1-관련 원위 신세뇨관산증SLC4A1-associated distal renal tubular acidosis 안내서→ 425 피어슨 증후군Pearson syndrome 안내서→ 426 축삭 회전타원체 및 색소침착된 아교세포를 동반한 성인-발병 백질뇌병증(ALSP)Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 안내서→ 427 적혈구생성이상 빈혈 및 혈소판감소증Dyserythropoietic anemia and thrombocytopenia 안내서→ 428 메틸말론산혈증 동반 호모시스틴뇨증Methylmalonic acidemia with homocystinuria 안내서→ 429 DOORS 증후군DOORS syndrome 안내서→ 430 동맥성 구불증 증후군Arterial tortuosity syndrome 안내서→ 431 소아성 폴립증 증후군Juvenile polyposis syndrome 안내서→ 432 발작성 야간혈색소 요증Paroxysmal nocturnal hemoglobinuria 안내서→ 433 리 증후군Leigh syndrome 안내서→ 434 다이아몬드 블랙판 빈혈Diamond-Blackfan anemia 안내서→ 435 부갑상샘암Parathyroid cancer 안내서→ 436 척추골단형성이상 선천형Spondyloepiphyseal dysplasia congenita 안내서→ 437 블라우 증후군Blau syndrome 안내서→ 438 가족성 부분 지방디스트로피Familial partial lipodystrophy 안내서→ 439 법랑질형성부전증Amelogenesis imperfecta 안내서→ 440 CDKL5 결핍증 질환CDKL5 deficiency disorder 안내서→ 441 시트룰린혈증Citrullinemia 안내서→ 442 가족성 단독 뇌하수체 선종Familial isolated pituitary adenoma 안내서→ 443 구강-안면-수지 증후군Oral-facial-digital syndrome 안내서→ 444 쉰젤 기드온 증후군Schinzel-Giedion syndrome 안내서→ 445 과제특이성 국소성 근긴장이상Task-specific focal dystonia 안내서→ 446 유전성 췌장염Hereditary pancreatitis 안내서→ 447 윌리엄스 증후군Williams syndrome 안내서→ 448 카우덴 증후군Cowden syndrome 안내서→ 449 CASK-관련 지적장애CASK-related intellectual disability 안내서→ 450 원발성 코엔자임 Q10 결핍증Primary coenzyme Q10 deficiency 안내서→ 451 데옥시구아노신 인산화효소 결핍증Deoxyguanosine kinase deficiency 안내서→ 452 가족성 칸디다증Familial candidiasis 안내서→ 453 울프-파킨슨-화이트 증후군Wolff-Parkinson-White syndrome 안내서→ 454 선천성 적혈구조혈이상빈혈Congenital dyserythropoietic anemia 안내서→ 455 9q22.3 미세결실9q22.3 microdeletion 안내서→ 456 계절성 정동 장애Seasonal affective disorder 안내서→ 457 Lattice 각막 디스트로피 II형Lattice corneal dystrophy type II 안내서→ 458 유전성 뇌전증 동반 열성경련 plusGenetic epilepsy with febrile seizures plus 안내서→ 459 전신 비만세포증Systemic mastocytosis 안내서→ 460 다발성 익상막 증후군Multiple pterygium syndrome 안내서→ 461 다논 병Danon disease 안내서→ 462 아황산염산화효소결핍Isolated sulfite oxidase deficiency 안내서→ 463 Opitz-G/BBB 증후군Opitz G/BBB syndrome 안내서→ 464 판코니빈혈Fanconi anemia 안내서→ 465 DICER1 증후군DICER1 syndrome 안내서→ 466 Peters plus 증후군Peters plus syndrome 안내서→ 467 폴란드증후군Poland syndrome 안내서→ 468 원발성 경화성 담관염Primary sclerosing cholangitis 안내서→ 469 유리질 섬유종증 증후군Hyaline fibromatosis syndrome 안내서→ 470 Mainzer-Saldino 증후군Mainzer-Saldino syndrome 안내서→ 471 진행성 가족성 심장차단Progressive familial heart block 안내서→ 472 에이퍼트 증후군Apert syndrome 안내서→ 473 Nijmegen breakage 증후군Nijmegen breakage syndrome 안내서→ 474 아프리카 철 과부하증African iron overload 안내서→ 475 Cleidocranial 형성이상Cleidocranial dysplasia 안내서→ 476 표피모반Epidermal nevus 안내서→ 477 얼굴어깨팔 근디스트로피Facioscapulohumeral muscular dystrophy 안내서→ 478 Kaufman oculocerebrofacial 증후군Kaufman oculocerebrofacial syndrome 안내서→ 479 Netherton 증후군Netherton syndrome 안내서→ 480 주버트 증후군Joubert syndrome 안내서→ 481 피질하 낭을 동반한 거대뇌성 백질뇌병증Megalencephalic leukoencephalopathy with subcortical cysts 안내서→ 482 Hartsfield 증후군Hartsfield syndrome 안내서→ 483 알파-N-acetylgalactosaminidase 결핍증Alpha-N-acetylgalactosaminidase deficiency 안내서→ 484 뇌건황색종증Cerebrotendinous xanthomatosis 안내서→ 485 굴지 형성이상Campomelic dysplasia 안내서→ 486 Cytochrome P450 oxidoreductase 결핍증Cytochrome P450 oxidoreductase deficiency 안내서→ 487 균상식육종Mycosis fungoides 안내서→ 488 프레이저 증후군Fraser syndrome 안내서→ 489 Branchio-oculo-facial 증후군Branchio-oculo-facial syndrome 안내서→ 490 선천성 중추성 무호흡증Congenital central hypoventilation syndrome 안내서→ 491 Megalencephaly-capillary 기형 증후군Megalencephaly-capillary malformation syndrome 안내서→ 492 Junctional 수포성 표피박리증Junctional epidermolysis bullosa 안내서→ 493 니만-피크병Niemann-Pick disease 안내서→ 494 시스틴증Cystinosis 안내서→ 495 Triple A 증후군Triple A syndrome 안내서→ 496 스티클러 증후군Stickler syndrome 안내서→ 497 Mabry 증후군Mabry syndrome 안내서→ 498 BAP1 종양 소인 증후군BAP1 tumor predisposition syndrome 안내서→ 499 PMM2-선천형l 질환의 glycosylationPMM2-congenital disorder of glycosylation 안내서→ 500 티모시 증후군Timothy syndrome 안내서→ 501 유전성 출혈성 모세혈관확장증Hereditary hemorrhagic telangiectasia 안내서→ 502 기관식도샛길Esophageal atresia/tracheoesophageal fistula 안내서→ 503 지질단백질 라이페이스 결핍Familial lipoprotein lipase deficiency 안내서→ 504 Lateral meningocele 증후군Lateral meningocele syndrome 안내서→ 505 Cardiofaciocutaneous 증후군Cardiofaciocutaneous syndrome 안내서→ 506 펠리제우스-메르츠바하병Pelizaeus-Merzbacher disease 안내서→ 507 WAGR 증후군(11번 염색체 단완의 13부분 결손)WAGR syndrome 안내서→ 508 점액다당류증 VI형Mucopolysaccharidosis type VI 안내서→ 509 L1 증후군L1 syndrome 안내서→ 510 모자이크성 다양한 이수성 증후군1Mosaic variegated aneuploidy syndrome 안내서→ 511 18장완 말단부 결손 증후군Distal 18q deletion syndrome 안내서→ 512 중증 선천형l heart 질환Critical congenital heart disease 안내서→ 513 7q11.23 중복 증후군7q11.23 duplication syndrome 안내서→ 514 Anhidrotic 외배엽성 형성이상 동반 면역 결핍증Anhidrotic ectodermal dysplasia with immune deficiency 안내서→ 515 야콥센 증후군(11장완 말단부 결손 증후군)Jacobsen syndrome 안내서→ 516 루이소체치매(F02.8*)Dementia with Lewy bodies 안내서→ 517 다발성 설파테이스 결핍증Multiple sulfatase deficiency 안내서→ 518 다발성 내분비종양증Multiple endocrine neoplasia 안내서→ 519 Cerebro-facio-thoracic 형성이상Cerebro-facio-thoracic dysplasia 안내서→ 520 Caffey 질환Caffey disease 안내서→ 521 IMAGe 증후군IMAGe syndrome 안내서→ 522 확장성 cardio근병증 동반 운동실조 증후군Dilated cardiomyopathy with ataxia syndrome 안내서→ 523 연골무형성증Achondroplasia 안내서→ 524 안구 결손증Coloboma 안내서→ 525 뮤코지질증 Ⅳ IV형Mucolipidosis type IV 안내서→ 526 1q21.1 미세결실1q21.1 microdeletion 안내서→ 527 Constitutional mismatch repair 결핍증 증후군Constitutional mismatch repair deficiency syndrome 안내서→ 528 Pseudohypoaldosteronism 1형Pseudohypoaldosteronism type 1 안내서→ 529 영아성-onset ascending 유전성 spastic 마비Infantile-onset ascending hereditary spastic paralysis 안내서→ 530 뒤쉔·베커 근디스트로피Duchenne and Becker muscular dystrophy 안내서→ 531 MYH9-관련 질환MYH9-related disorder 안내서→ 532 글리코젠축적병 VII형Glycogen storage disease type VII 안내서→ 533 3-M 증후군3-M syndrome 안내서→ 534 비증후군성 청력손실Nonsyndromic hearing loss 안내서→ 535 X-연관 림프증식성 질환X-linked lymphoproliferative disease 안내서→ 536 1q21.1 미세중복1q21.1 microduplication 안내서→ 537 Phosphoglycerate 탈수소효소 결핍증Phosphoglycerate dehydrogenase deficiency 안내서→ 538 Triosephosphate isomerase 결핍증Triosephosphate isomerase deficiency 안내서→ 539 Boucher-Neuhäuser 증후군Boucher-Neuhäuser syndrome 안내서→ 540 촙스 증후군CHOPS syndrome 안내서→ 541 Snijders Blok-Campeau 증후군Snijders Blok-Campeau syndrome 안내서→ 542 Andermann 증후군Andermann syndrome 안내서→ 543 히르슈스프룽병Hirschsprung disease 안내서→ 544 CLPB 결핍증CLPB deficiency 안내서→ 545 Saul-Wilson 증후군Saul-Wilson syndrome 안내서→ 546 상염색체 우성 sleep-관련 hypermotor 뇌전증Autosomal dominant sleep-related hypermotor epilepsy 안내서→ 547 3-베타-hydroxysteroid 탈수소효소 결핍증3-beta-hydroxysteroid dehydrogenase deficiency 안내서→ 548 시토스테롤혈증Sitosterolemia 안내서→ 549 가족성 자율신경기능장애Familial dysautonomia 안내서→ 550 티로신혈증Tyrosinemia 안내서→ 551 스티븐스-존슨 증후군·독성표피괴사용해Stevens-Johnson syndrome/toxic epidermal necrolysis 안내서→ 552 Cold-induced sweating 증후군Cold-induced sweating syndrome 안내서→ 553 젤레오피직 이형성증Geleophysic dysplasia 안내서→ 554 48,XXXY 증후군48,XXXY syndrome 안내서→ 555 Wiedemann-Rautenstrauch 증후군Wiedemann-Rautenstrauch syndrome 안내서→ 556 슬라이 증후군Mucopolysaccharidosis type VII 안내서→ 557 X-연관 점상 연골형성이상 2형X-linked chondrodysplasia punctata 2 안내서→ 558 Fukuyama 선천형l 근디스트로피Fukuyama congenital muscular dystrophy 안내서→ 559 가족성 비대성 cardio근병증Familial hypertrophic cardiomyopathy 안내서→ 560 위장관 기질 종양Gastrointestinal stromal tumor 안내서→ 561 진행성 외안근마비Progressive external ophthalmoplegia 안내서→ 562 CLN8 질환CLN8 disease 안내서→ 563 고쉐병Gaucher disease 안내서→ 564 PACS1 증후군PACS1 syndrome 안내서→ 565 SOST-관련 경화성 뼈 형성이상SOST-related sclerosing bone dysplasia 안내서→ 566 뫼비우스 증후군Moebius syndrome 안내서→ 567 STAC3 질환STAC3 disorder 안내서→ 568 LAMA2-관련 근디스트로피LAMA2-related muscular dystrophy 안내서→ 569 미토콘드리아 복합체 I 결핍증Mitochondrial complex I deficiency 안내서→ 570 돌발성 운동유발 이상운동Familial paroxysmal kinesigenic dyskinesia 안내서→ 571 유전성 신경병증 동반 liability to pressure palsiesHereditary neuropathy with liability to pressure palsies 안내서→ 572 분열정동장애Schizoaffective disorder 안내서→ 573 Trichorhinophalangeal 증후군 II형Trichorhinophalangeal syndrome type II 안내서→ 574 칸투증후군Cantú syndrome 안내서→ 575 유전성 강직성 하반신마비 15형Spastic paraplegia type 15 안내서→ 576 원시Farsightedness 안내서→ 577 Riboflavin 수송체 결핍증 신경세포병증Riboflavin transporter deficiency neuronopathy 안내서→ 578 선천갑상샘저하증Congenital hypothyroidism 안내서→ 579 폰 히펠-린다우 증후군Von Hippel-Lindau syndrome 안내서→ 580 백질뇌병증 동반 thalamus 및 뇌간 involvement 및 high 젖산Leukoencephalopathy with thalamus and brainstem involvement and high lactate 안내서→ 581 상염색체 우성 저칼슘혈증Autosomal dominant hypocalcemia 안내서→ 582 선천형l 섬유증의 extra안구 근육sCongenital fibrosis of the extraocular muscles 안내서→ 583 Pelizaeus-Merzbacher-like 질환 1형Pelizaeus-Merzbacher-like disease type 1 안내서→ 584 Wolf-Hirschhorn 증후군Wolf-Hirschhorn syndrome 안내서→ 585 Rabson-Mendenhall 증후군Rabson-Mendenhall syndrome 안내서→ 586 선천성 근섬유형 불균형Congenital fiber-type disproportion 안내서→ 587 DOCK8 immuno결핍증 증후군DOCK8 immunodeficiency syndrome 안내서→ 588 체디아크(-스타인브링크)-히가시증후군Chediak-Higashi syndrome 안내서→ 589 Klippel-Trenaunay 증후군Klippel-Trenaunay syndrome 안내서→ 590 Kindler 수포성 표피박리증Kindler epidermolysis bullosa 안내서→ 591 Darier 질환Darier disease 안내서→ 592 PGM3-선천형l 질환의 glycosylationPGM3-congenital disorder of glycosylation 안내서→ 593 백질뇌병증 동반 vanishing white matterLeukoencephalopathy with vanishing white matter 안내서→ 594 Dent 질환Dent disease 안내서→ 595 선천성 손발톱비대증Pachyonychia congenita 안내서→ 596 혈전성 혈소판감소성 자반Thrombotic thrombocytopenic purpura 안내서→ 597 Schimke immuno-osseous 형성이상Schimke immuno-osseous dysplasia 안내서→ 598 Nonketotic 고글라이신혈증Nonketotic hyperglycinemia 안내서→ 599 Fatty acid 수산화효소-관련 신경퇴행Fatty acid hydroxylase-associated neurodegeneration 안내서→ 600 지대 근디스트로피Limb-girdle muscular dystrophy 안내서→ 601 비증후군성 부신경절종Nonsyndromic paraganglioma 안내서→ 602 McLeod neuroacanthocytosis 증후군McLeod neuroacanthocytosis syndrome 안내서→ 603 뇌전증의 infancy 동반 migrating 국소성 발작Epilepsy of infancy with migrating focal seizures 안내서→ 604 알캅톤뇨증Alkaptonuria 안내서→ 605 McKusick-Kaufman 증후군McKusick-Kaufman syndrome 안내서→ 606 안치지의 형성이상Oculodentodigital dysplasia 안내서→ 607 공격성 섬유종증Desmoid tumor 안내서→ 608 유전성 감각성 및 자율신경성 신경병증 II형Hereditary sensory and autonomic neuropathy type II 안내서→ 609 비정형 용혈성 요독증후군Atypical hemolytic-uremic syndrome 안내서→ 610 Dowling-Degos 질환Dowling-Degos disease 안내서→ 611 근세관성 (중심핵성) 근육병증X-linked myotubular myopathy 안내서→ 612 Coats plus 증후군Coats plus syndrome 안내서→ 613 고린증후군Gorlin syndrome 안내서→ 614 쉐그렌-라손 증후군Sjögren-Larsson syndrome 안내서→ 615 갈락토시알리도시스Galactosialidosis 안내서→ 616 근긴장성 디스트로피Myotonic dystrophy 안내서→ 617 Free sialic acid storage 질환Free sialic acid storage disorder 안내서→ 618 유전성 fibrosing 색소피부증 동반 tendon contractures, 근병증, 및 폐 섬유증Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 안내서→ 619 슈바르츠 얌펠 증후군Schwartz-Jampel syndrome 안내서→ 620 선천형l anomalies의 콩팥 및 urinary tractCongenital anomalies of kidney and urinary tract 안내서→ 621 STXBP1 뇌병증STXBP1 encephalopathy 안내서→ 622 왜소증Metatropic dysplasia 안내서→ 623 Swyer 증후군Swyer syndrome 안내서→ 624 오피오이드 사용장애Opioid addiction 안내서→ 625 Aicardi 증후군Aicardi syndrome 안내서→ 626 글리코젠축적병 IX형Glycogen storage disease type IX 안내서→ 627 Stüve-Wiedemann 증후군Stüve-Wiedemann syndrome 안내서→ 628 척수성 근위축증 동반 진행성 근간대성 뇌전증Spinal muscular atrophy with progressive myoclonic epilepsy 안내서→ 629 거대방광-미세결장-장연동저하 증후군(MMIHS)Megacystis-microcolon-intestinal hypoperistalsis syndrome 안내서→ 630 GLUT1 결핍증 증후군GLUT1 deficiency syndrome 안내서→ 631 상염색체 우성 시신경 위축 및 백내장Autosomal dominant optic atrophy and cataract 안내서→ 632 지아-깁스 증후군Xia-Gibbs syndrome 안내서→ 633 21-수산화효소결핍21-hydroxylase deficiency 안내서→ 634 기면증Narcolepsy 안내서→ 635 10q26 결실 증후군10q26 deletion syndrome 안내서→ 636 홀트-오람 증후군Holt-Oram syndrome 안내서→ 637 두개안면소체증Craniofacial microsomia 안내서→ 638 악성고열증Malignant hyperthermia 안내서→ 639 A베타lipo단백질emiaAbetalipoproteinemia 안내서→ 640 모왓-윌슨 증후군Mowat-Wilson syndrome 안내서→ 641 Yuan-Harel-Lupski 증후군Yuan-Harel-Lupski syndrome 안내서→ 642 전두측두치매 동반 파킨슨증-17Frontotemporal dementia with parkinsonism-17 안내서→ 643 VACTERL 연합VACTERL association 안내서→ 644 Spondyloenchondro형성이상 동반 면역조절이상Spondyloenchondrodysplasia with immune dysregulation 안내서→ 645 상염색체 우성 백질디스트로피 동반 자율신경성 질환Autosomal dominant leukodystrophy with autonomic disease 안내서→ 646 선천형l 백내장, 안면이형성, 및 신경병증Congenital cataracts, facial dysmorphism, and neuropathy 안내서→ 647 Otopalatodigital 증후군 2형Otopalatodigital syndrome type 2 안내서→ 648 프로테우스 증후군Proteus syndrome 안내서→ 649 Thiopurine S-methyltransferase 결핍증Thiopurine S-methyltransferase deficiency 안내서→ 650 Craniofrontonasal 증후군Craniofrontonasal syndrome 안내서→ 651 Fragile X-관련 tremor/운동실조 증후군Fragile X-associated tremor/ataxia syndrome 안내서→ 652 담관암Cholangiocarcinoma 안내서→ 653 Branchiooto신장/branchiootic 증후군Branchiootorenal/branchiootic syndrome 안내서→ 654 Mandibulofacial 골형성부전 동반 microcephalyMandibulofacial dysostosis with microcephaly 안내서→ 655 뼈 파제트병Paget disease of bone 안내서→ 656 Inclusion body 근병증 동반 조기 발병 Paget 질환 및 전두측두치매Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 안내서→ 657 자가면역 림프증식 증후군Autoimmune lymphoproliferative syndrome 안내서→ 658 단풍당뇨증Dihydrolipoamide dehydrogenase deficiency 안내서→ 659 특발성 폐섬유증Idiopathic pulmonary fibrosis 안내서→ 660 단독 성장 호르몬 결핍증Isolated growth hormone deficiency 안내서→ 661 만성 골수성 백혈병Chronic myeloid leukemia 안내서→ 662 전신성 동맥성 석회화의 infancyGeneralized arterial calcification of infancy 안내서→ 663 신경섬유종증 1형Neurofibromatosis type 1 안내서→ 664 쉬프린첸-골드베르그 증후군Shprintzen-Goldberg syndrome 안내서→ 665 알라질증후군Alagille syndrome 안내서→ 666 MEGDEL 증후군MEGDEL syndrome 안내서→ 667 폐정맥의 부정렬을 동반한 폐포 모세혈관 형성이상Alveolar capillary dysplasia with misalignment of pulmonary veins 안내서→ 668 CUL3-관련 신경발달장애CUL3-related neurodevelopmental disorder 안내서→ 669 Idiopathic 영아성 고칼슘혈증Idiopathic infantile hypercalcemia 안내서→ 670 RAPADILINO 증후군RAPADILINO syndrome 안내서→ 671 Biotin-thiamine-responsive basal ganglia 질환Biotin-thiamine-responsive basal ganglia disease 안내서→ 672 Spondylocostal 골형성부전Spondylocostal dysostosis 안내서→ 673 16p11.2 중복16p11.2 duplication 안내서→ 674 다발미세이랑증Polymicrogyria 안내서→ 675 점액다당류증 IV형Mucopolysaccharidosis type IV 안내서→ 676 어깨고관절 점상 연골형성이상(1형-3형)Rhizomelic chondrodysplasia punctata 안내서→ 677 CLN1 질환CLN1 disease 안내서→ 678 알파 thalassemia X-연관 지적장애 증후군Alpha thalassemia X-linked intellectual disability syndrome 안내서→ 679 피터스 이상Peters anomaly 안내서→ 680 Common variable 면역 결핍증Common variable immune deficiency 안내서→ 681 Frontonasal 형성이상Frontonasal dysplasia 안내서→ 682 유전성 미만성 위 암Hereditary diffuse gastric cancer 안내서→ 683 유전성 강직성 하반신마비 11형Spastic paraplegia type 11 안내서→ 684 Crouzon 증후군 동반 acanthosis nigricansCrouzon syndrome with acanthosis nigricans 안내서→ 685 급성 necrotizing 뇌병증 1형Acute necrotizing encephalopathy type 1 안내서→ 686 선천형l 간 섬유증Congenital hepatic fibrosis 안내서→ 687 Bardet-Biedl 증후군Bardet-Biedl syndrome 안내서→ 688 자가면역 애디슨병Autoimmune Addison disease 안내서→ 689 상염색체 우성 hyper-IgE 증후군Autosomal dominant hyper-IgE syndrome 안내서→ 690 아데노신탈아미노효소 결핍증Adenosine deaminase deficiency 안내서→ 691 STING-관련 vasculopathy 동반 onset in infancySTING-associated vasculopathy with onset in infancy 안내서→ 692 스미스-마제니스 증후군Smith-Magenis syndrome 안내서→ 693 선천형l plasminogen 결핍증Congenital plasminogen deficiency 안내서→ 694 A형 인슐린 저항성 증후군Type A insulin resistance syndrome 안내서→ 695 유전성 강직성 하반신마비 2형Spastic paraplegia type 2 안내서→ 696 글리코젠축적병 III형Glycogen storage disease type III 안내서→ 697 DLG4-관련 synaptopathyDLG4-related synaptopathy 안내서→ 698 Au-Kline 증후군Au-Kline syndrome 안내서→ 699 로트문드(-톰슨) 증후군Rothmund-Thomson syndrome 안내서→ 700 SATB2-관련 증후군SATB2-associated syndrome 안내서→ 701 폐 정맥폐쇄성질환Pulmonary veno-occlusive disease 안내서→ 702 Simpson-Golabi-Behmel 증후군Simpson-Golabi-Behmel syndrome 안내서→ 703 Jansen-de Vries 증후군Jansen-de Vries syndrome 안내서→ 704 저인산효소증Hypophosphatasia 안내서→ 705 단독 활택뇌증 연속증Isolated lissencephaly sequence 안내서→ 706 영아성 neuroaxonal 디스트로피Infantile neuroaxonal dystrophy 안내서→ 707 신세뇨관산증 동반 난청Renal tubular acidosis with deafness 안내서→ 708 Hyperpara갑상샘ism-jaw 종양 증후군Hyperparathyroidism-jaw tumor syndrome 안내서→ 709 갈락토스혈증Galactosemia 안내서→ 710 소두증 골형성이상 원시성 난쟁이증 유형2Microcephalic osteodysplastic primordial dwarfism type II 안내서→ 711 비스코트-얼드리치증후군Wiskott-Aldrich syndrome 안내서→ 712 알레르기 천식Allergic asthma 안내서→ 713 Rapid-onset 근긴장이상 파킨슨증Rapid-onset dystonia parkinsonism 안내서→ 714 가족성 고콜레스테롤혈증Familial hypercholesterolemia 안내서→ 715 Aromatase 결핍증Aromatase deficiency 안내서→ 716 만성 atrial 및 장 dysrhythmiaChronic atrial and intestinal dysrhythmia 안내서→ 717 MED13L 증후군MED13L syndrome 안내서→ 718 퓨린뉴클레오사이드인산화효소결핍Purine nucleoside phosphorylase deficiency 안내서→ 719 알파만노시도시스Alpha-mannosidosis 안내서→ 720 글리코젠축적병 0형Glycogen storage disease type 0 안내서→ 721 네말린근육병증Nemaline myopathy 안내서→ 722 COL4A1-관련 뇌 small-vessel 질환COL4A1-related brain small-vessel disease 안내서→ 723 Dihydropyrimidine 탈수소효소 결핍증Dihydropyrimidine dehydrogenase deficiency 안내서→ 724 마푸치증후군Maffucci syndrome 안내서→ 725 포토키-룹스키 증후군Potocki-Lupski syndrome 안내서→ 726 소토스 증후군Sotos syndrome 안내서→ 727 하지불안 증후군Restless legs syndrome 안내서→ 728 Baller-Gerold 증후군Baller-Gerold syndrome 안내서→ 729 Short stature, hyperextensibility, hernia, 안구 depression, Rieger anomaly, 및 teething delayShort stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay 안내서→ 730 X-연관 hypophosphatemiaX-linked hypophosphatemia 안내서→ 731 UNC80 결핍증UNC80 deficiency 안내서→ 732 Roberts 증후군Roberts syndrome 안내서→ 733 18번 염색체 단완의 사염색체증Tetrasomy 18p 안내서→ 734 카무라티-엥겔만증후군Camurati-Engelmann disease 안내서→ 735 유전성 강직성 하반신마비 7형Spastic paraplegia type 7 안내서→ 736 MPV17-관련 hepato뇌 미토콘드리아 DNA 고갈 증후군MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 안내서→ 737 혈소판감소증-absent radius 증후군Thrombocytopenia-absent radius syndrome 안내서→ 738 Gyrate 위축의 choroid 및 retinaGyrate atrophy of the choroid and retina 안내서→ 739 RNAse T2-deficient 백질뇌병증RNAse T2-deficient leukoencephalopathy 안내서→ 740 거대 axonal 신경병증Giant axonal neuropathy 안내서→ 741 진행성 가족성 간내 담즙정체Progressive familial intrahepatic cholestasis 안내서→ 742 Arginine vasopressin 저항성Arginine vasopressin resistance 안내서→ 743 X-연관 열성 척수소뇌성 운동실조 36형Spinocerebellar ataxia type 36 안내서→ 744 연골무발생증Achondrogenesis 안내서→ 745 ALG1-선천형l 질환의 glycosylationALG1-congenital disorder of glycosylation 안내서→ 746 무도병-가시적혈구증Chorea-acanthocytosis 안내서→ 747 Capillary 기형-arteriovenous 기형 증후군Capillary malformation-arteriovenous malformation syndrome 안내서→ 748 백질뇌병증 동반 뇌간 및 척수 cord involvement 및 젖산 elevationLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 안내서→ 749 Cranio외배엽성 형성이상Cranioectodermal dysplasia 안내서→ 750 Rigid spine 근디스트로피Rigid spine muscular dystrophy 안내서→ 751 척수성 근위축증 동반 호흡기 distress 1형Spinal muscular atrophy with respiratory distress type 1 안내서→ 752 CLN3 질환CLN3 disease 안내서→ 753 Hyperphosphatemic 가족성 종양al calcinosisHyperphosphatemic familial tumoral calcinosis 안내서→ 754 아이소발레린산혈증Isovaleric acidemia 안내서→ 755 Dermatofibro육종 protuberansDermatofibrosarcoma protuberans 안내서→ 756 Huntington's 질환-likeHuntington's disease-like 안내서→ 757 비타민 D 의존성 구루병Vitamin D-dependent rickets 안내서→ 758 색소실조증Incontinentia pigmenti 안내서→ 759 X-연관 심장 판막 형성이상X-linked cardiac valvular dysplasia 안내서→ 760 악센펠트-리이거 증후군Axenfeld-Rieger syndrome 안내서→ 761 세자리병Sézary syndrome 안내서→ 762 헤르만스키-푸들라크증후군Hermansky-Pudlak syndrome 안내서→ 763 Buschke-Ollendorff 증후군Buschke-Ollendorff syndrome 안내서→ 764 블륨 증후군Bloom syndrome 안내서→ 765 수포성 표피박리증 동반 pyloric atresiaEpidermolysis bullosa with pyloric atresia 안내서→ 766 Keratoderma 동반 woolly hairKeratoderma with woolly hair 안내서→ 767 거대뇌증-다소뇌회증-다지증-수두증 증후군2(AKT3 관련)Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 안내서→ 768 가족성 급성 골수성 백혈병 동반 mutated CEBPAFamilial acute myeloid leukemia with mutated CEBPA 안내서→ 769 FOXG1 증후군FOXG1 syndrome 안내서→ 770 선천성 경상 운동 장애Congenital mirror movement disorder 안내서→ 771 지속성 뮐러관 증후군Persistent Müllerian duct syndrome 안내서→ 772 ADNP 증후군(헬스무르텔-반데르아 증후군)ADNP syndrome 안내서→ 773 척추골단형성이상 동반 marked metaphyseal changesSpondyloepiphyseal dysplasia with marked metaphyseal changes 안내서→ 774 Manitoba oculotrichoanal 증후군Manitoba oculotrichoanal syndrome 안내서→ 775 Adenylosuccinate 분해효소 결핍증Adenylosuccinate lyase deficiency 안내서→ 776 Rhabdoid 종양 소인 증후군Rhabdoid tumor predisposition syndrome 안내서→ 777 Robinow 증후군Robinow syndrome 안내서→ 778 Troyer 증후군Troyer syndrome 안내서→ 779 폼페병Pompe disease 안내서→ 780 무안구증·소안구증Anophthalmia/Microphthalmia 안내서→ 781 고린-샤우드리-모스 증후군Gorlin-Chaudhry-Moss syndrome 안내서→ 782 Pendred 증후군Pendred syndrome 안내서→ 783 폰빌레브란트병Von Willebrand disease 안내서→ 784 Fryns 증후군Fryns syndrome 안내서→ 785 베타 지중해빈혈Beta thalassemia 안내서→ 786 워커-워버그 증후군Walker-Warburg syndrome 안내서→ 787 FBXL4-관련 encephalomyopathic 미토콘드리아 DNA 고갈 증후군FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 안내서→ 788 17q12 결실 증후군17q12 deletion syndrome 안내서→ 789 모세혈관확장성 운동실조[루이-바]Ataxia-telangiectasia 안내서→ 790 신경발달장애 동반 여부와 관계없는 anomalies의 뇌, eye, or heartNeurodevelopmental disorder with or without anomalies of the brain, eye, or heart 안내서→ 791 바터증후군Bartter syndrome 안내서→ 792 Duane-radial ray 증후군Duane-radial ray syndrome 안내서→ 793 Lafora 진행성 근간대경련 뇌전증Lafora progressive myoclonus epilepsy 안내서→ 794 유전성 folate malabsorptionHereditary folate malabsorption 안내서→ 795 벡위드-비데만 증후군Beckwith-Wiedemann syndrome 안내서→ 796 콜만증후군Kallmann syndrome 안내서→ 797 Donohue 증후군Donohue syndrome 안내서→ 798 Thiamine-responsive megaloblastic 빈혈 증후군Thiamine-responsive megaloblastic anemia syndrome 안내서→ 799 Benign 가족성 신생아 발작Benign familial neonatal seizures 안내서→ 800 CHD2 근간대성 뇌병증CHD2 myoclonic encephalopathy 안내서→ 801 무세룰로플라스민혈증Aceruloplasminemia 안내서→ 802 신경아세포종Neuroblastoma 안내서→ 803 Action 근간대경련–신장 failure 증후군Action myoclonus–renal failure syndrome 안내서→ 804 원위 유전성 motor 신경병증, V형Distal hereditary motor neuropathy, type V 안내서→ 805 선천형l ad신장 과형성에 의한 11-베타-수산화효소 결핍증Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 안내서→ 806 레버 선천성 흑암시Leber congenital amaurosis 안내서→ 807 컨스-세이어증후군Kearns-Sayre syndrome 안내서→ 808 테트라-아멜리아 증후군Tetra-amelia syndrome 안내서→ 809 X-연관 hyper IgM 증후군X-linked hyper IgM syndrome 안내서→ 810 Nakajo-Nishimura 증후군Nakajo-Nishimura syndrome 안내서→ 811 PDGFRA-관련 만성 eosinophilic 백혈병PDGFRA-associated chronic eosinophilic leukemia 안내서→ 812 몰라요!Sick sinus syndrome 안내서→ 813 가족성 restrictive cardio근병증Familial restrictive cardiomyopathy 안내서→ 814 D-bifunctional 단백질 결핍증D-bifunctional protein deficiency 안내서→ 815 Intra간 cholestasis의 pregnancyIntrahepatic cholestasis of pregnancy 안내서→ 816 Yao 증후군Yao syndrome 안내서→ 817 Alpers-Huttenlocher 증후군Alpers-Huttenlocher syndrome 안내서→ 818 에드하임-체스터 병Erdheim-Chester disease 안내서→ 819 가족성 hyperaldosteronismFamilial hyperaldosteronism 안내서→ 820 15q13.3 미세결실15q13.3 microdeletion 안내서→ 821 림프관평활근종증Lymphangioleiomyomatosis 안내서→ 822 Andersen-Tawil 증후군Andersen-Tawil syndrome 안내서→ 823 플로우팅 하버 증후군Floating-Harbor syndrome 안내서→ 824 단독 ectopia lentisIsolated ectopia lentis 안내서→ 825 MBD5-관련 신경발달장애MBD5-associated neurodevelopmental disorder 안내서→ 826 Dihydropyrimidinase 결핍증Dihydropyrimidinase deficiency 안내서→ 827 Laryngo-onycho-cutaneous 증후군Laryngo-onycho-cutaneous syndrome 안내서→ 828 Snyder-Robinson 증후군Snyder-Robinson syndrome 안내서→ 829 3-methylglutaconyl-CoA hydratase 결핍증3-methylglutaconyl-CoA hydratase deficiency 안내서→ 830 원발성 국소 피부 아밀로이드증Primary localized cutaneous amyloidosis 안내서→ 831 후복막 섬유증Retroperitoneal fibrosis 안내서→ 832 활성화된 PI3K 델타 증후군Activated PI3K-delta syndrome 안내서→ 833 장쇄수산화아실코에이탈수소효소결핍증(VLCAD)Very long-chain acyl-CoA dehydrogenase deficiency 안내서→ 834 유전성 leiomyomatosis 및 신장 cell 암Hereditary leiomyomatosis and renal cell cancer 안내서→ 835 안드로겐 무감응 증후군Androgen insensitivity syndrome 안내서→ 836 피리독살인산 반응성 발작Pyridoxal phosphate-responsive seizures 안내서→ 837 테이-삭스병Tay-Sachs disease 안내서→ 838 GRN-관련 전두측두엽 변성GRN-related frontotemporal lobar degeneration 안내서→ 839 Blepharocheilodontic 증후군Blepharocheilodontic syndrome 안내서→ 840 CLN10 질환CLN10 disease 안내서→ 841 상염색체 열성 선천형l 메트헤모글로빈혈증Autosomal recessive congenital methemoglobinemia 안내서→ 842 Gnathodiaphyseal 형성이상Gnathodiaphyseal dysplasia 안내서→ 843 망막모세포종Retinoblastoma 안내서→ 844 원위 유전성 motor 신경병증, II형Distal hereditary motor neuropathy, type II 안내서→ 845 기타 근긴장이상Dopa-responsive dystonia 안내서→ 846 3 장완29 미세결손 증후군3q29 microdeletion syndrome 안내서→ 847 Imerslund-Gräsbeck 증후군Imerslund-Gräsbeck syndrome 안내서→ 848 난청-근긴장이상-시신경 신경세포병증 증후군Deafness-dystonia-optic neuronopathy syndrome 안내서→ 849 Glutaric acidemia I형Glutaric acidemia type I 안내서→ 850 Centronuclear 근병증Centronuclear myopathy 안내서→ 851 2-하이드록시글루타르산뇨증2-hydroxyglutaric aciduria 안내서→ 852 ADCY5 관련 이상운동증ADCY5-related dyskinesia 안내서→ 853 Ankyrin-B 증후군Ankyrin-B syndrome 안내서→ 854 가족성 hemophagocytic lympho조직구증Familial hemophagocytic lymphohistiocytosis 안내서→ 855 Trichohepatoenteric 증후군Trichohepatoenteric syndrome 안내서→ 856 손발톱무릎뼈 증후군Nail-patella syndrome 안내서→ 857 Auriculocondylar 증후군Auriculocondylar syndrome 안내서→ 858 만발성 척추골단형성이상X-linked spondyloepiphyseal dysplasia tarda 안내서→ 859 눈인두성 근디스트로피Oculopharyngeal muscular dystrophy 안내서→ 860 Pyruvate carboxylase 결핍증Pyruvate carboxylase deficiency 안내서→ 861 Gillespie 증후군Gillespie syndrome 안내서→ 862 유동성 골과다증Melorheostosis 안내서→ 863 Naegeli-Franceschetti-Jadassohn 증후군/dermatopathia pigmentosa reticularisNaegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis 안내서→ 864 Core binding 인자 급성 골수성 백혈병Core binding factor acute myeloid leukemia 안내서→ 865 Cytochrome c oxidase 결핍증Cytochrome c oxidase deficiency 안내서→ 866 근긴장이상 16Dystonia 16 안내서→ 867 글리코젠축적병 V형Glycogen storage disease type V 안내서→ 868 케이비지 증후군KBG syndrome 안내서→ 869 Mandibuloacral 형성이상Mandibuloacral dysplasia 안내서→ 870 Bosma arhinia microphthalmia 증후군Bosma arhinia microphthalmia syndrome 안내서→ 871 라르센 증후군Larsen syndrome 안내서→ 872 Alternating hemiplegia의 childhoodAlternating hemiplegia of childhood 안내서→ 873 색소망막염Retinitis pigmentosa 안내서→ 874 C3 사구체병증C3 glomerulopathy 안내서→ 875 가족성 뇌병증 동반 neuroserpin inclusion bodiesFamilial encephalopathy with neuroserpin inclusion bodies 안내서→ 876 Aarskog-Scott 증후군Aarskog-Scott syndrome 안내서→ 877 원발성 고옥살산뇨증Primary hyperoxaluria 안내서→ 878 유전성 구상적혈구증Hereditary spherocytosis 안내서→ 879 GM3 synthase 결핍증GM3 synthase deficiency 안내서→ 880 HIVEP2-관련 지적장애HIVEP2-related intellectual disability 안내서→ 881 단독 Pierre Robin 연속증Isolated Pierre Robin sequence 안내서→ 882 가성 장 폐쇄Intestinal pseudo-obstruction 안내서→ 883 다발성 가족성 모낭상피종Multiple familial trichoepithelioma 안내서→ 884 콩팥황폐증Nephronophthisis 안내서→ 885 카르니틴팔미토일전이효소 I 결핍증Carnitine palmitoyltransferase I deficiency 안내서→ 886 무한증을 동반한 선천성 통증 무감각증Congenital insensitivity to pain with anhidrosis 안내서→ 887 로베증후군Lowe syndrome 안내서→ 888 Burn-McKeown 증후군Burn-McKeown syndrome 안내서→ 889 Long-chain 3-hydroxyacyl-CoA 탈수소효소 결핍증Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 안내서→ 890 Otopalatodigital 증후군 1형Otopalatodigital syndrome type 1 안내서→ 891 무홍채증Aniridia 안내서→ 892 가부키 증후군Kabuki syndrome 안내서→ 893 선천성 횡격막탈장Congenital diaphragmatic hernia 안내서→ 894 Pfeiffer 증후군Pfeiffer syndrome 안내서→ 895 급성 promyelocytic 백혈병Acute promyelocytic leukemia 안내서→ 896 상염색체 우성 뇌전증 동반 auditory featuresAutosomal dominant epilepsy with auditory features 안내서→ 897 Adenine phosphoribosyltransferase 결핍증Adenine phosphoribosyltransferase deficiency 안내서→ 898 조짐이 있는 편두통[고전적 편두통]Sporadic hemiplegic migraine 안내서→ 899 Microcephaly-capillary 기형 증후군Microcephaly-capillary malformation syndrome 안내서→ 900 Melnick-Needles 증후군Melnick-Needles syndrome 안내서→ 901 Prothrombin 혈전성향Prothrombin thrombophilia 안내서→ 902 SETBP1 haploinsufficiency 질환SETBP1 haploinsufficiency disorder 안내서→ 903 Sudden infant death 동반 dysgenesis의 testes 증후군Sudden infant death with dysgenesis of the testes syndrome 안내서→ 904 Benign 재발성 intra간 cholestasisBenign recurrent intrahepatic cholestasis 안내서→ 905 CLN11 질환CLN11 disease 안내서→ 906 GNE 근병증GNE myopathy 안내서→ 907 Saethre-Chotzen 증후군Saethre-Chotzen syndrome 안내서→ 908 뇌 상염색체 우성 arteriopathy 동반 subcortical infarcts 및 백질뇌병증Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 안내서→ 909 CLCN2-관련 백질뇌병증CLCN2-related leukoencephalopathy 안내서→ 910 고라이신혈증Hyperlysinemia 안내서→ 911 올리에르병Ollier disease 안내서→ 912 점액지질증 II 알파·베타형Mucolipidosis II alpha/beta 안내서→ 913 Myofibrillar 근병증Myofibrillar myopathy 안내서→ 914 Leukocyte adhesion 결핍증 1형Leukocyte adhesion deficiency type 1 안내서→ 915 2q37 결실 증후군2q37 deletion syndrome 안내서→ 916 Anauxetic 형성이상Anauxetic dysplasia 안내서→ 917 폐표면활성제 기능장애Surfactant dysfunction 안내서→ 918 소아성 Paget 질환Juvenile Paget disease 안내서→ 919 Pantothenate 인산화효소-관련 신경퇴행Pantothenate kinase-associated neurodegeneration 안내서→ 920 X-연관 agammaglobulinemiaX-linked agammaglobulinemia 안내서→ 921 Short/branched chain acyl-CoA 탈수소효소 결핍증Short/branched chain acyl-CoA dehydrogenase deficiency 안내서→ 922 Donnai-Barrow 증후군Donnai-Barrow syndrome 안내서→ 923 파버 지방육아종증Farber lipogranulomatosis 안내서→ 924 22q13.3 결실 증후군22q13.3 deletion syndrome 안내서→ 925 유전성 감각성 신경병증 제형 IAHereditary sensory neuropathy type IA 안내서→ 926 가족성 paroxysmal nonkinesigenic 이상운동증Familial paroxysmal nonkinesigenic dyskinesia 안내서→ 927 벡사스 증후군VEXAS syndrome 안내서→ 928 Crigler-Najjar 증후군Crigler-Najjar syndrome 안내서→ 929 가족성 hemiplegic migraineFamilial hemiplegic migraine 안내서→ 930 Ohdo 증후군, Say-Barber-Biesecker-Young-Simpson variantOhdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 안내서→ 931 Episodic 운동실조Episodic ataxia 안내서→ 932 인자 V Leiden 혈전성향Factor V Leiden thrombophilia 안내서→ 933 원발성 가족성 뇌석회화Primary familial brain calcification 안내서→ 934 X-연관 연소성 망막분리X-linked juvenile retinoschisis 안내서→ 935 X-연관 sideroblastic 빈혈 및 운동실조X-linked sideroblastic anemia and ataxia 안내서→ 936 Frontometaphyseal 형성이상Frontometaphyseal dysplasia 안내서→ 937 아스파르틸글루코사민뇨Aspartylglucosaminuria 안내서→ 938 Nager 증후군Nager syndrome 안내서→ 939 단백질S결핍Protein S deficiency 안내서→ 940 Adams-Oliver 증후군Adams-Oliver syndrome 안내서→ 941 메이어-고린 증후군Meier-Gorlin syndrome 안내서→ 942 8p11 myeloproliferative 증후군8p11 myeloproliferative syndrome 안내서→ 943 Genitopatellar 증후군Genitopatellar syndrome 안내서→ 944 미토콘드리아 neurogastro장 뇌병증 질환Mitochondrial neurogastrointestinal encephalopathy disease 안내서→ 945 아텔로스테오제네시스 3형Atelosteogenesis type 3 안내서→ 946 Hypomyelination 동반 뇌간 및 척수 cord involvement 및 leg spasticityHypomyelination with brainstem and spinal cord involvement and leg spasticity 안내서→ 947 코핀-시리스 증후군Coffin-Siris syndrome 안내서→ 948 바라이서-윈터증후군Baraitser-Winter syndrome 안내서→ 949 Majeed 증후군Majeed syndrome 안내서→ 950 Trichorhinophalangeal 증후군 I형Trichorhinophalangeal syndrome type I 안내서→ 951 신세뇨관 발생이상Renal tubular dysgenesis 안내서→ 952 Cyto유전성ally normal 급성 골수성 백혈병Cytogenetically normal acute myeloid leukemia 안내서→ 953 Dopamine 베타-수산화효소 결핍증Dopamine beta-hydroxylase deficiency 안내서→ 954 진행성 근간대성 뇌전증 1형Progressive myoclonic epilepsy type 1 안내서→ 955 Prolidase 결핍증Prolidase deficiency 안내서→ 956 Dopamine 수송체 결핍증 증후군Dopamine transporter deficiency syndrome 안내서→ 957 Intervertebral disc 질환Intervertebral disc disease 안내서→ 958 레버 유전성 시신경병증Leber hereditary optic neuropathy 안내서→ 959 샌드호프병Sandhoff disease 안내서→ 960 Carbonic anhydrase VA 결핍증Carbonic anhydrase VA deficiency 안내서→ 961 LMNA-관련 선천형l 근디스트로피LMNA-related congenital muscular dystrophy 안내서→ 962 피질하 띠 이소증Subcortical band heterotopia 안내서→ 963 FG 증후군FG syndrome 안내서→ 964 가족성 국소성 뇌전증 동반 variable fociFamilial focal epilepsy with variable foci 안내서→ 965 Aromatic l-amino acid decarboxylase 결핍증Aromatic l-amino acid decarboxylase deficiency 안내서→ 966 상염색체 우성 소뇌성 운동실조, 난청, 및 narcolepsyAutosomal dominant cerebellar ataxia, deafness, and narcolepsy 안내서→ 967 특발성 염증성 근병증Idiopathic inflammatory myopathy 안내서→ 968 Pseudocholinesterase 결핍증Pseudocholinesterase deficiency 안내서→ 969 Warfarin 저항성Warfarin resistance 안내서→ 970 RRM2B-관련 미토콘드리아 DNA 고갈 증후군, encephalomyopathic 형태 동반 신장 tubulopathyRRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 안내서→ 971 Knobloch 증후군Knobloch syndrome 안내서→ 972 Costeff 증후군Costeff syndrome 안내서→ 973 Asparagine synthetase 결핍증Asparagine synthetase deficiency 안내서→ 974 Transcobalamin 결핍증Transcobalamin deficiency 안내서→ 975 SLC35A2-선천형l 질환의 glycosylationSLC35A2-congenital disorder of glycosylation 안내서→ 976 CLN6 질환CLN6 disease 안내서→ 977 Spondylothoracic 골형성부전Spondylothoracic dysostosis 안내서→ 978 조기 발병 glaucomaEarly-onset glaucoma 안내서→ 979 레이블 입력Laron syndrome 안내서→ 980 GRIN2B-관련 신경발달장애GRIN2B-related neurodevelopmental disorder 안내서→ 981 유전성 감각성 및 자율신경성 신경병증 제형 IEHereditary sensory and autonomic neuropathy type IE 안내서→ 982 섬유연골발생증Fibrochondrogenesis 안내서→ 983 Griscelli 증후군Griscelli syndrome 안내서→ 984 Blepharophimosis, ptosis, 및 epicanthus inversus 증후군Blepharophimosis, ptosis, and epicanthus inversus syndrome 안내서→ 985 Char 증후군Char syndrome 안내서→ 986 Permanent 신생아 diabetes mellitusPermanent neonatal diabetes mellitus 안내서→ 987 신경초종증Schwannomatosis 안내서→ 988 뇌두개피부 지방종증Encephalocraniocutaneous lipomatosis 안내서→ 989 상염색체 열성 spastic 운동실조의 Charlevoix-SaguenayAutosomal recessive spastic ataxia of Charlevoix-Saguenay 안내서→ 990 CHMP2B-관련 전두측두치매CHMP2B-related frontotemporal dementia 안내서→ 991 Channelopathy-관련 선천형l 무감응 to painChannelopathy-associated congenital insensitivity to pain 안내서→ 992 뇌실주위 이소증Periventricular heterotopia 안내서→ 993 Oculofaciocardiodental 증후군Oculofaciocardiodental syndrome 안내서→ 994 Small fiber 신경병증Small fiber neuropathy 안내서→ 995 빌름스 종양Wilms tumor 안내서→ 996 Hypohidrotic 외배엽성 형성이상Hypohidrotic ectodermal dysplasia 안내서→ 997 X-연관 열성 척수소뇌성 운동실조Infantile-onset spinocerebellar ataxia 안내서→ 998 PURA 증후군PURA syndrome 안내서→ 999 헌팅톤병Huntington's disease 안내서→ 1000 바르덴브르그 증후군 (백색증을 동반한)Waardenburg syndrome 안내서→ 1001 Cap 근병증Cap myopathy 안내서→ 1002 다낭성 콩팥병Polycystic kidney disease 안내서→ 1003 과당대사장애Hereditary fructose intolerance 안내서→ 1004 Popliteal pterygium 증후군Popliteal pterygium syndrome 안내서→ 1005 SCN8A-관련 뇌전증 동반 뇌병증SCN8A-related epilepsy with encephalopathy 안내서→ 1006 XYY 증후군47,XYY syndrome 안내서→ 1007 Kniest 형성이상Kniest dysplasia 안내서→ 1008 뇌 상염색체 열성 arteriopathy 동반 subcortical infarcts 및 백질뇌병증Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 안내서→ 1009 미토콘드리아 복합체 III 결핍증Mitochondrial complex III deficiency 안내서→ 1010 아데노신탈아미노효소 2 결핍증Adenosine deaminase 2 deficiency 안내서→ 1011 선천형l bile acid synthesis defect 1형Congenital bile acid synthesis defect type 1 안내서→ 1012 진행성 pseudorheumatoid 형성이상Progressive pseudorheumatoid dysplasia 안내서→ 1013 Partington 증후군Partington syndrome 안내서→ 1014 Arginine vasopressin 결핍증Arginine vasopressin deficiency 안내서→ 1015 유전성 hyperekplexiaHereditary hyperekplexia 안내서→ 1016 케루비즘Cherubism 안내서→ 1017 Scalp-ear-nipple 증후군Scalp-ear-nipple syndrome 안내서→ 1018 취약 X 관련 원발성 난소기능부전Fragile X-associated primary ovarian insufficiency 안내서→ 1019 모기질종Pilomatricoma 안내서→ 1020 Asphyxiating thoracic 디스트로피Asphyxiating thoracic dystrophy 안내서→ 1021 CLN2 질환CLN2 disease 안내서→ 1022 Clopidogrel 저항성Clopidogrel resistance 안내서→ 1023 두개골간단형성부전증Craniometaphyseal dysplasia 안내서→ 1024 Parkes Weber 증후군Parkes Weber syndrome 안내서→ 1025 19p13.13 결실 증후군19p13.13 deletion syndrome 안내서→ 1026 Perrault 증후군Perrault syndrome 안내서→ 1027 Beare-Stevenson cutis gyrata 증후군Beare-Stevenson cutis gyrata syndrome 안내서→ 1028 Glutathione synthetase 결핍증Glutathione synthetase deficiency 안내서→ 1029 Polycystic lipomembranous osteo형성이상 동반 경화성 백질뇌병증Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 안내서→ 1030 본태성혈소판증가증Essential thrombocythemia 안내서→ 1031 MyD88 결핍증MyD88 deficiency 안내서→ 1032 종양 괴사 인자 수용체와 관련된 주기성 증후군Tumor necrosis factor receptor-associated periodic syndrome 안내서→ 1033 알렉산더 병Alexander disease 안내서→ 1034 운동실조-pancytopenia 증후군Ataxia-pancytopenia syndrome 안내서→ 1035 ALG12-선천형l 질환의 glycosylationALG12-congenital disorder of glycosylation 안내서→ 1036 눈피부백색증Oculocutaneous albinism 안내서→ 1037 가족성 osteochondritis dissecansFamilial osteochondritis dissecans 안내서→ 1038 가족성 exudative vitreoretinopathyFamilial exudative vitreoretinopathy 안내서→ 1039 러셀 실버 증후군Silver-Russell syndrome 안내서→ 1040 유전성 angioedemaHereditary angioedema 안내서→ 1041 카나반 병Canavan disease 안내서→ 1042 미토콘드리아 membrane 단백질-관련 신경퇴행Mitochondrial membrane protein-associated neurodegeneration 안내서→ 1043 Miller 증후군Miller syndrome 안내서→ 1044 단백질C결핍Protein C deficiency 안내서→ 1045 연령 관련 청력손실Age-related hearing loss 안내서→ 1046 Multicentric osteolysis, nodulosis, 및 arthropathyMulticentric osteolysis, nodulosis, and arthropathy 안내서→ 1047 Lujan 증후군Lujan syndrome 안내서→ 1048 화이트-서튼 증후군White-Sutton syndrome 안내서→ 1049 크라베병Krabbe disease 안내서→ 1050 Emery-Dreifuss 근디스트로피Emery-Dreifuss muscular dystrophy 안내서→ 1051 Weissenbacher-Zweymüller 증후군Weissenbacher-Zweymüller syndrome 안내서→ 1052 유잉육종Ewing sarcoma 안내서→ 1053 강직성 하반신마비 제형 5ASpastic paraplegia type 5A 안내서→ 1054 Tarsal-carpal coalition 증후군Tarsal-carpal coalition syndrome 안내서→ 1055 탄력섬유성거짓황색종Pseudoxanthoma elasticum 안내서→ 1056 Keratitis-ichthyosis-난청 증후군Keratitis-ichthyosis-deafness syndrome 안내서→ 1057 Anophthalmia/microphthalmia-esophageal atresia 증후군Anophthalmia/microphthalmia-esophageal atresia syndrome 안내서→ 1058 Medullary cystic 콩팥 질환 1형Medullary cystic kidney disease type 1 안내서→ 1059 Osteoporosis-pseudoglioma 증후군Osteoporosis-pseudoglioma syndrome 안내서→ 1060 X-연관 immuno결핍증 동반 magnesium defect, Epstein-Barr virus 감염, 및 neoplasiaX-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 안내서→ 1061 조기 발병 단독 근긴장이상Early-onset isolated dystonia 안내서→ 1062 단독 Duane retraction 증후군Isolated Duane retraction syndrome 안내서→ 1063 진성적혈구증가증Polycythemia vera 안내서→ 1064 X-연관 근긴장이상-파킨슨증X-linked dystonia-parkinsonism 안내서→ 1065 선천형l bile acid synthesis defect 2형Congenital bile acid synthesis defect type 2 안내서→ 1066 Inherited thyroxine-binding globulin 결핍증Inherited thyroxine-binding globulin deficiency 안내서→ 1067 모야모야병Moyamoya disease 안내서→ 1068 Acrocallosal 증후군Acrocallosal syndrome 안내서→ 1069 선천성 근긴장증Myotonia congenita 안내서→ 1070 3번 염색체 단완의 결손 증후군3p deletion syndrome 안내서→ 1071 선천형l myasthenic 증후군sCongenital myasthenic syndromes 안내서→ 1072 Potocki-Shaffer 증후군Potocki-Shaffer syndrome 안내서→ 1073 Liebenberg 증후군Liebenberg syndrome 안내서→ 1074 진행성 골화섬유형성이상Fibrodysplasia ossificans progressiva 안내서→ 1075 Sheldon-Hall 증후군Sheldon-Hall syndrome 안내서→ 1076 유전성 제11인자결핍Factor XI deficiency 안내서→ 1077 코케인 증후군Cockayne syndrome 안내서→ 1078 Vitelliform macular 디스트로피Vitelliform macular dystrophy 안내서→ 1079 양성 본태눈꺼풀연축Benign essential blepharospasm 안내서→ 1080 유전성 다발성 골연골종Hereditary multiple osteochondromas 안내서→ 1081 X-연관 열성 척수소뇌성 운동실조 3형Spinocerebellar ataxia type 3 안내서→ 1082 Hypomyelination 및 선천형l 백내장Hypomyelination and congenital cataract 안내서→ 1083 CHILD 증후군CHILD syndrome 안내서→ 1084 대뇌혈관의 기타 기형Cerebral cavernous malformation 안내서→ 1085 재발성 hydatidiform moleRecurrent hydatidiform mole 안내서→ 1086 Complement component 2 결핍증Complement component 2 deficiency 안내서→ 1087 비증후군성 무형성 cutis 선천형Nonsyndromic aplasia cutis congenita 안내서→ 1088 REN-관련 콩팥 질환REN-related kidney disease 안내서→ 1089 말단왜소 형성이상Acromicric dysplasia 안내서→ 1090 Tubular aggregate 근병증Tubular aggregate myopathy 안내서→ 1091 Cone-rod 디스트로피Cone-rod dystrophy 안내서→ 1092 가족성 지중해열Familial Mediterranean fever 안내서→ 1093 Otospondylomegaepiphyseal 형성이상Otospondylomegaepiphyseal dysplasia 안내서→ 1094 비증후군성 확장성 cardio근병증Nonsyndromic dilated cardiomyopathy 안내서→ 1095 젖산 탈수소효소 결핍증Lactate dehydrogenase deficiency 안내서→ 1096 Tibial 근디스트로피Tibial muscular dystrophy 안내서→ 1097 FOXP2-관련 speech 및 language 질환FOXP2-related speech and language disorder 안내서→ 1098 X-연관 sideroblastic 빈혈X-linked sideroblastic anemia 안내서→ 1099 가성연골무형성증Pseudoachondroplasia 안내서→ 1100 신경섬유종증 2형Neurofibromatosis type 2 안내서→ 1101 포스포글리세레이트 키네이스Phosphoglycerate kinase deficiency 안내서→ 1102 HSD10 질환HSD10 disease 안내서→ 1103 X-연관 acrogigantismX-linked acrogigantism 안내서→ 1104 다계통위축증Multiple system atrophy 안내서→ 1105 Paroxysmal extreme pain 질환Paroxysmal extreme pain disorder 안내서→ 1106 Dysequilibrium 증후군Dysequilibrium syndrome 안내서→ 1107 Lymphedema-distichiasis 증후군Lymphedema-distichiasis syndrome 안내서→ 1108 Complete LCAT 결핍증Complete LCAT deficiency 안내서→ 1109 T-cell immuno결핍증, 선천형l alopecia, 및 nail 디스트로피T-cell immunodeficiency, congenital alopecia, and nail dystrophy 안내서→ 1110 폐포 및 벽측폐포 병태Pulmonary alveolar microlithiasis 안내서→ 1111 상염색체 열성 원발성 소두증Autosomal recessive primary microcephaly 안내서→ 1112 간 정맥폐쇄성질환 동반 immuno결핍증Hepatic veno-occlusive disease with immunodeficiency 안내서→ 1113 MECP2-관련 severe 신생아 뇌병증MECP2-related severe neonatal encephalopathy 안내서→ 1114 3-hydroxyacyl-CoA 탈수소효소 결핍증3-hydroxyacyl-CoA dehydrogenase deficiency 안내서→ 1115 표피박리성 과각화증Epidermolytic hyperkeratosis 안내서→ 1116 Perry 증후군Perry syndrome 안내서→ 1117 Proopiomelanocortin 결핍증Proopiomelanocortin deficiency 안내서→ 1118 17q12 중복17q12 duplication 안내서→ 1119 위버 증후군Weaver syndrome 안내서→ 1120 Isobutyryl-CoA 탈수소효소 결핍증Isobutyryl-CoA dehydrogenase deficiency 안내서→ 1121 X-연관 점상 연골형성이상 1형X-linked chondrodysplasia punctata 1 안내서→ 1122 복합 oxidative phosphorylation 결핍증 1Combined oxidative phosphorylation deficiency 1 안내서→ 1123 Pyruvate 인산화효소 결핍증Pyruvate kinase deficiency 안내서→ 1124 인자 XIII 결핍증Factor XIII deficiency 안내서→ 1125 5q minus 증후군5q minus syndrome 안내서→ 1126 KCNK9 imprinting 증후군KCNK9 imprinting syndrome 안내서→ 1127 눈백색증Ocular albinism 안내서→ 1128 페인골드 증후군 유형 1Feingold syndrome 안내서→ 1129 1p36 결실 증후군1p36 deletion syndrome 안내서→ 1130 Gilbert 증후군Gilbert syndrome 안내서→ 1131 할리퀸 어린선Harlequin ichthyosis 안내서→ 1132 유전성 혈소판감소증X-linked thrombocytopenia 안내서→ 1133 메니에르 병Ménière disease 안내서→ 1134 미토콘드리아 뇌근병증, lactic acidosis, 및 stroke-like episodesMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 안내서→ 1135 백점안저Fundus albipunctatus 안내서→ 1136 Short-chain acyl-CoA 탈수소효소 결핍증Short-chain acyl-CoA dehydrogenase deficiency 안내서→ 1137 데니스-드래쉬 증후군Denys-Drash syndrome 안내서→ 1138 원발성 골수섬유증Primary myelofibrosis 안내서→ 1139 Renpenning 증후군Renpenning syndrome 안내서→ 1140 X-연관 활택뇌증 동반 abnormal genitaliaX-linked lissencephaly with abnormal genitalia 안내서→ 1141 Clouston 증후군Clouston syndrome 안내서→ 1142 GM2 activator 결핍증GM2 activator deficiency 안내서→ 1143 Glutaric acidemia II형Glutaric acidemia type II 안내서→ 1144 원발성 자연기흉Primary spontaneous pneumothorax 안내서→ 1145 선천형l contractural arachnodactylyCongenital contractural arachnodactyly 안내서→ 1146 5알파-환원효소 2 결핍증5-alpha reductase deficiency 안내서→ 1147 Warfarin 감수성Warfarin sensitivity 안내서→ 1148 Craniofacial-난청-hand 증후군Craniofacial-deafness-hand syndrome 안내서→ 1149 Ochoa 증후군Ochoa syndrome 안내서→ 1150 6q24-관련 transient 신생아 diabetes mellitus6q24-related transient neonatal diabetes mellitus 안내서→ 1151 DNMT3A over성장 증후군DNMT3A overgrowth syndrome 안내서→ 1152 전색맹Achromatopsia 안내서→ 1153 척색종Chordoma 안내서→ 1154 폐 동맥성 hypertensionPulmonary arterial hypertension 안내서→ 1155 X-연관 열성 척수소뇌성 운동실조 2형Spinocerebellar ataxia type 2 안내서→ 1156 상염색체 열성 axonal 신경병증 동반 neuromyotoniaAutosomal recessive axonal neuropathy with neuromyotonia 안내서→ 1157 엔젤만증후군Angelman syndrome 안내서→ 1158 Actin-accumulation 근병증Actin-accumulation myopathy 안내서→ 1159 가족성 단독 hyperpara갑상샘ismFamilial isolated hyperparathyroidism 안내서→ 1160 상염색체 우성 세뇨관간질성 콩팥병-UMODAutosomal dominant tubulointerstitial kidney disease-UMOD 안내서→ 1161 두정공 확대Enlarged parietal foramina 안내서→ 1162 코헨 증후군Cohen syndrome 안내서→ 1163 오멘증후군Omenn syndrome 안내서→ 1164 피부문양소실증Adermatoglyphia 안내서→ 1165 단독 선천형l aspleniaIsolated congenital asplenia 안내서→ 1166 17-베타-하이드록시스테로이드 탈수소효소 결핍17-beta hydroxysteroid dehydrogenase 3 deficiency 안내서→ 1167 CLN5 질환CLN5 disease 안내서→ 1168 연골형성저하증Hypochondroplasia 안내서→ 1169 Winchester 증후군Winchester syndrome 안내서→ 1170 Bare lymphocyte 증후군 II형Bare lymphocyte syndrome type II 안내서→ 1171 X-연관 선천형l stationary night 실명X-linked congenital stationary night blindness 안내서→ 1172 간 lipase 결핍증Hepatic lipase deficiency 안내서→ 1173 쿠싱 증후군Cushing disease 안내서→ 1174 Lysinuric 단백질 intoleranceLysinuric protein intolerance 안내서→ 1175 유전성 강직성 하반신마비 4형Spastic paraplegia type 4 안내서→ 1176 안드로겐성 탈모증Androgenetic alopecia 안내서→ 1177 가족성 부신코티코이드결핍Familial glucocorticoid deficiency 안내서→ 1178 다발성 미토콘드리아 기능장애 증후군Multiple mitochondrial dysfunctions syndrome 안내서→ 1179 강직성 하반신마비 제형 3ASpastic paraplegia type 3A 안내서→ 1180 Pyruvate 탈수소효소 결핍증Pyruvate dehydrogenase deficiency 안내서→ 1181 취약X증후군Fragile X syndrome 안내서→ 1182 포도당-6-인산탈수소효소 결핍Glucose-6-phosphate dehydrogenase deficiency 안내서→ 1183 항트롬빈결핍Hereditary antithrombin deficiency 안내서→ 1184 Intranuclear rod 근병증Intranuclear rod myopathy 안내서→ 1185 근간대성 뇌전증 근병증 감각성 운동실조Myoclonic epilepsy myopathy sensory ataxia 안내서→ 1186 X-연관 확장성 cardio근병증X-linked dilated cardiomyopathy 안내서→ 1187 IRAK-4 결핍증IRAK-4 deficiency 안내서→ 1188 좌심실 비치밀화증Left ventricular noncompaction 안내서→ 1189 16p11.2 결실 증후군16p11.2 deletion syndrome 안내서→ 1190 지연시각Bradyopsia 안내서→ 1191 전신농포건선Generalized pustular psoriasis 안내서→ 1192 단독 hyperchlorhidrosisIsolated hyperchlorhidrosis 안내서→ 1193 두경부 편평세포암Head and neck squamous cell carcinoma 안내서→ 1194 시신경 위축 1형Optic atrophy type 1 안내서→ 1195 CLN4 질환CLN4 disease 안내서→ 1196 발달성 및 뇌전증성 뇌병증 76Developmental and epileptic encephalopathy 1 안내서→ 1197 GRACILE 증후군GRACILE syndrome 안내서→ 1198 5q31.3 미세결실 증후군5q31.3 microdeletion syndrome 안내서→ 1199 브루가다 증후군Brugada syndrome 안내서→ 1200 Glucose phosphate isomerase 결핍증Glucose phosphate isomerase deficiency 안내서→ 1201 다발성 골단 형성이상Multiple epiphyseal dysplasia 안내서→ 1202 ACAD9 결핍증ACAD9 deficiency 안내서→ 1203 근병증 동반 결핍증의 iron-sulfur cluster assembly enzymeMyopathy with deficiency of iron-sulfur cluster assembly enzyme 안내서→ 1204 스미스-킹스모어 증후군Smith-Kingsmore syndrome 안내서→ 1205 상염색체 우성 vitreoretinochoroidopathyAutosomal dominant vitreoretinochoroidopathy 안내서→ 1206 신장 저요산혈증Renal hypouricemia 안내서→ 1207 3-hydroxy-3-methylglutaryl-CoA 분해효소 결핍증3-hydroxy-3-methylglutaryl-CoA lyase deficiency 안내서→ 1208 신장 안결손 증후군Renal coloboma syndrome 안내서→ 1209 메르프 증후군Myoclonic epilepsy with ragged-red fibers 안내서→ 1210 메켈증후군Meckel syndrome 안내서→ 1211 유전성 강직성 하반신마비 8형Spastic paraplegia type 8 안내서→ 1212 불완전상아질형성Dentinogenesis imperfecta 안내서→ 1213 조기 발병 근병증 동반 fatal cardio근병증Early-onset myopathy with fatal cardiomyopathy 안내서→ 1214 미토콘드리아 trifunctional 단백질 결핍증Mitochondrial trifunctional protein deficiency 안내서→ 1215 푸고스축적증Fucosidosis 안내서→ 1216 Bowen-Conradi 증후군Bowen-Conradi syndrome 안내서→ 1217 Retinal 동맥성 macro동맥류 동반 supra판막 pulmonic 협착Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 안내서→ 1218 고칼륨혈성 주기마비Hyperkalemic periodic paralysis 안내서→ 1219 통증성 지방증Adiposis dolorosa 안내서→ 1220 Senior-Løken 증후군Senior-Løken syndrome 안내서→ 1221 Spondylocarpotarsal synostosis 증후군Spondylocarpotarsal synostosis syndrome 안내서→ 1222 Horizontal gaze palsy 동반 진행성 scoliosisHorizontal gaze palsy with progressive scoliosis 안내서→ 1223 페리틴Hyperferritinemia-cataract syndrome 안내서→ 1224 Silver 증후군Silver syndrome 안내서→ 1225 클리프스트라 증후군Kleefstra syndrome 안내서→ 1226 Hand-foot-genital 증후군Hand-foot-genital syndrome 안내서→ 1227 CHST3-관련 skeletal 형성이상CHST3-related skeletal dysplasia 안내서→ 1228 유전성 강직성 하반신마비 31형Spastic paraplegia type 31 안내서→ 1229 Myosin storage 근병증Myosin storage myopathy 안내서→ 1230 피브로넥틴 사구체병증Fibronectin glomerulopathy 안내서→ 1231 선천성 호중구감소Severe congenital neutropenia 안내서→ 1232 코넬리아 디란지 증후군Cornelia de Lange syndrome 안내서→ 1233 코핀-로우리 증후군Coffin-Lowry syndrome 안내서→ 1234 베르너 증후군Werner syndrome 안내서→ 1235 N-acetylglutamate synthase 결핍증N-acetylglutamate synthase deficiency 안내서→ 1236 PRICKLE1-관련 진행성 근간대경련 뇌전증 동반 운동실조PRICKLE1-related progressive myoclonus epilepsy with ataxia 안내서→ 1237 원인불명 간경변증Cryptogenic cirrhosis 안내서→ 1238 운동실조 신경병증 스펙트럼Ataxia neuropathy spectrum 안내서→ 1239 선천성 신증후군(핀란드형)Congenital nephrotic syndrome 안내서→ 1240 척수성 근위축증 동반 lower extremity predominanceSpinal muscular atrophy with lower extremity predominance 안내서→ 1241 16p12.2 미세결실16p12.2 microdeletion 안내서→ 1242 홍색사지통증Erythromelalgia 안내서→ 1243 트레처-콜린스 증후군Treacher Collins syndrome 안내서→ 1244 얼룩백색증Piebaldism 안내서→ 1245 Leydig cell 형성저하Leydig cell hypoplasia 안내서→ 1246 3MC 증후군3MC syndrome 안내서→ 1247 호너 증후군Horner syndrome 안내서→ 1248 밀러-디커 증후군Miller-Dieker syndrome 안내서→ 1249 SUCLG1-관련 미토콘드리아 DNA 고갈 증후군SUCLG1-related mitochondrial DNA depletion syndrome 안내서→ 1250 유전성 근병증 동반 early 호흡기 failureHereditary myopathy with early respiratory failure 안내서→ 1251 Corticosterone methyloxidase 결핍증Corticosterone methyloxidase deficiency 안내서→ 1252 글란츠만 혈소판무력증Glanzmann thrombasthenia 안내서→ 1253 선천형l sucrase-isomaltase 결핍증Congenital sucrase-isomaltase deficiency 안내서→ 1254 COG5-선천형l 질환의 glycosylationCOG5-congenital disorder of glycosylation 안내서→ 1255 Bietti crystalline 디스트로피Bietti crystalline dystrophy 안내서→ 1256 Romano-Ward 증후군Romano-Ward syndrome 안내서→ 1257 TK2 관련 미토콘드리아 DNA 고갈 증후군 근병형TK2-related mitochondrial DNA depletion syndrome, myopathic form 안내서→ 1258 가변성 진행성 홍색각피증Erythrokeratodermia variabilis et progressiva 안내서→ 1259 프로피온산혈증Propionic acidemia 안내서→ 1260 고프롤린혈증Hyperprolinemia 안내서→ 1261 염주모증Monilethrix 안내서→ 1262 Adult polyglucosan body 질환Adult polyglucosan body disease 안내서→ 1263 Ophthalmo-acromelic 증후군Ophthalmo-acromelic syndrome 안내서→ 1264 X-연관 ad신장 형성저하 선천형X-linked adrenal hypoplasia congenita 안내서→ 1265 레프숨병Refsum disease 안내서→ 1266 Vohwinkel 증후군Vohwinkel syndrome 안내서→ 1267 색각 이상Color vision deficiency 안내서→ 1268 데스모스테롤증Desmosterolosis 안내서→ 1269 Wagner 증후군Wagner syndrome 안내서→ 1270 ALG6-선천형l 질환의 glycosylationALG6-congenital disorder of glycosylation 안내서→ 1271 점액지질증 III 알파·베타형Mucolipidosis III alpha/beta 안내서→ 1272 신경병증, 운동실조, 및 retinitis pigmentosaNeuropathy, ataxia, and retinitis pigmentosa 안내서→ 1273 선천성 이상근긴장증Paramyotonia congenita 안내서→ 1274 Ring chromosome 14 증후군Ring chromosome 14 syndrome 안내서→ 1275 프레이저 신장-생식샘 증후군Frasier syndrome 안내서→ 1276 Rippling 근육 질환Rippling muscle disease 안내서→ 1277 Boomerang 형성이상Boomerang dysplasia 안내서→ 1278 이차성 저칼슘혈증을 동반한 저마그네슘혈증Hypomagnesemia with secondary hypocalcemia 안내서→ 1279 Monoamine oxidase A 결핍증Monoamine oxidase A deficiency 안내서→ 1280 마이어 로키탄스키 쿠스터 하우저 증후군Mayer-Rokitansky-Küster-Hauser syndrome 안내서→ 1281 순환성 호중구감소Cyclic neutropenia 안내서→ 1282 X-연관 열성 척수소뇌성 운동실조 1형Spinocerebellar ataxia type 1 안내서→ 1283 Arginase 결핍증Arginase deficiency 안내서→ 1284 Laing 원위 근병증Laing distal myopathy 안내서→ 1285 지질단백결핍Tangier disease 안내서→ 1286 아르지닌숙신산뇨Argininosuccinic aciduria 안내서→ 1287 가족성 pityriasis rubra pilarisFamilial pityriasis rubra pilaris 안내서→ 1288 시알산뇨증Sialuria 안내서→ 1289 Pyridoxine-dependent 뇌전증Pyridoxine-dependent epilepsy 안내서→ 1290 선천성 고인슐린혈증Congenital hyperinsulinism 안내서→ 1291 Microvillus inclusion 질환Microvillus inclusion disease 안내서→ 1292 Complement component 8 결핍증Complement component 8 deficiency 안내서→ 1293 원발성 거대결절성 부신과형성Primary macronodular adrenal hyperplasia 안내서→ 1294 Gordon Holmes 증후군Gordon Holmes syndrome 안내서→ 1295 무카탈라아제혈증Acatalasemia 안내서→ 1296 몰리브데넘 조효소 결핍Molybdenum cofactor deficiency 안내서→ 1297 원발성 카르니틴 결핍증Primary carnitine deficiency 안내서→ 1298 Gray platelet 증후군Gray platelet syndrome 안내서→ 1299 Nonbullous 선천형l ichthyosiform erythrodermaNonbullous congenital ichthyosiform erythroderma 안내서→ 1300 MUTYH-연관 폴립증 (가족성 선종성 폴립증 2형)MUTYH-associated polyposis 안내서→ 1301 포스포리보실피로인산 합성효소 과활성Phosphoribosylpyrophosphate synthetase superactivity 안내서→ 1302 저칼륨혈성 주기마비Hypokalemic periodic paralysis 안내서→ 1303 Muenke 증후군Muenke syndrome 안내서→ 1304 ZAP70-관련 severe 복합 immuno결핍증ZAP70-related severe combined immunodeficiency 안내서→ 1305 프로제리아Hutchinson-Gilford progeria syndrome 안내서→ 1306 Childhood absence 뇌전증Childhood absence epilepsy 안내서→ 1307 마르케사니-바일 증후군 [바일-마르케사니 증후군]Weill-Marchesani syndrome 안내서→ 1308 무뇌증Anencephaly 안내서→ 1309 Hailey-Hailey 질환Hailey-Hailey disease 안내서→ 1310 OTULIN 결핍증Otulipenia 안내서→ 1311 활택뇌증 동반 소뇌성 형성저하Lissencephaly with cerebellar hypoplasia 안내서→ 1312 Pseudohypoaldosteronism 2형Pseudohypoaldosteronism type 2 안내서→ 1313 Tietz 증후군Tietz syndrome 안내서→ 1314 하트넙병Hartnup disease 안내서→ 1315 Sepiapterin reductase 결핍증Sepiapterin reductase deficiency 안내서→ 1316 CLN7 질환CLN7 disease 안내서→ 1317 성인형 척수성 근위축X-linked infantile spinal muscular atrophy 안내서→ 1318 Marinesco-Sjögren 증후군Marinesco-Sjögren syndrome 안내서→ 1319 Ohdo 증후군 Maat-Kievit-Brunner형Ohdo syndrome, Maat-Kievit-Brunner type 안내서→ 1320 Kuskokwim 증후군Kuskokwim syndrome 안내서→ 1321 Miyoshi 근병증Miyoshi myopathy 안내서→ 1322 스미스-렘리-오피츠 증후군Smith-Lemli-Opitz syndrome 안내서→ 1323 호모시스틴뇨Homocystinuria 안내서→ 1324 린치 증후군Lynch syndrome 안내서→ 1325 Microphthalmia 동반 linear skin defects 증후군Microphthalmia with linear skin defects syndrome 안내서→ 1326 Proximal 18q 결실 증후군Proximal 18q deletion syndrome 안내서→ 1327 고메티오닌혈증Hypermethioninemia 안내서→ 1328 Diastrophic 형성이상Diastrophic dysplasia 안내서→ 1329 가족성 HDL 결핍증Familial HDL deficiency 안내서→ 1330 지텔만 증후군Gitelman syndrome 안내서→ 1331 복합 말론산 메틸말로닌산산성뇨증Combined malonic and methylmalonic aciduria 안내서→ 1332 가족성 porencephalyFamilial porencephaly 안내서→ 1333 X-연관 영아성 nystagmusX-linked infantile nystagmus 안내서→ 1334 MECP2 중복 증후군MECP2 duplication syndrome 안내서→ 1335 점액지질증 III 감마형Mucolipidosis III gamma 안내서→ 1336 Arts 증후군Arts syndrome 안내서→ 1337 Bare lymphocyte 증후군 I형Bare lymphocyte syndrome type I 안내서→ 1338 Müllerian 무형성 및 hyperandrogenismMüllerian aplasia and hyperandrogenism 안내서→ 1339 Fragile XE 증후군Fragile XE syndrome 안내서→ 1340 Medium-chain acyl-CoA 탈수소효소 결핍증Medium-chain acyl-CoA dehydrogenase deficiency 안내서→ 1341 Björnstad 증후군Björnstad syndrome 안내서→ 1342 Succinyl-CoA:3-ketoacid CoA transferase 결핍증Succinyl-CoA:3-ketoacid CoA transferase deficiency 안내서→ 1343 Meesmann 각막 디스트로피Meesmann corneal dystrophy 안내서→ 1344 백색해면모반White sponge nevus 안내서→ 1345 Childhood myocerebrohepatopathy 스펙트럼Childhood myocerebrohepatopathy spectrum 안내서→ 1346 파브리(-앤더슨)병Fabry disease 안내서→ 1347 3-methylcrotonyl-CoA carboxylase 결핍증3-methylcrotonyl-CoA carboxylase deficiency 안내서→ 1348 선천형l stromal 각막 디스트로피Congenital stromal corneal dystrophy 안내서→ 1349 3q29 미세중복 증후군3q29 microduplication syndrome 안내서→ 1350 Recombinant 8 증후군Recombinant 8 syndrome 안내서→ 1351 소아성 근간대성 뇌전증Juvenile myoclonic epilepsy 안내서→ 1352 Tetrahydrobiopterin 결핍증Tetrahydrobiopterin deficiency 안내서→ 1353 Ring chromosome 20 증후군Ring chromosome 20 syndrome 안내서→ 1354 SUCLA2-관련 미토콘드리아 DNA 고갈 증후군SUCLA2-related mitochondrial DNA depletion syndrome 안내서→ 1355 중추성 성조숙증Central precocious puberty 안내서→ 1356 글리코젠축적병 VI형Glycogen storage disease type VI 안내서→ 1357 Short QT 증후군Short QT syndrome 안내서→ 1358 상염색체 열성 hypotrichosisAutosomal recessive hypotrichosis 안내서→ 1359 리-프라우메니 증후군Li-Fraumeni syndrome 안내서→ 1360 Carnitine-acylcarnitine translocase 결핍증Carnitine-acylcarnitine translocase deficiency 안내서→ 1361 층판비늘증Lamellar ichthyosis 안내서→ 1362 Maternally inherited diabetes 및 난청Maternally inherited diabetes and deafness 안내서→ 1363 레쉬-니한증후군Lesch-Nyhan syndrome 안내서→ 1364 인자 VII 결핍증Factor VII deficiency 안내서→ 1365 베타글로빈형 메트헤모글로빈혈증Methemoglobinemia, beta-globin type 안내서→ 1366 엠마누엘 증후군Emanuel syndrome 안내서→ 1367 Peroxisomal acyl-CoA oxidase 결핍증Peroxisomal acyl-CoA oxidase deficiency 안내서→ 1368 선천형l 무피브리노젠혈증Congenital afibrinogenemia 안내서→ 1369 Carbamoyl phosphate synthetase I 결핍증Carbamoyl phosphate synthetase I deficiency 안내서→ 1370 포이츠-제거스 증후군Peutz-Jeghers syndrome 안내서→ 1371 아텔로스테오제네시스 1형Atelosteogenesis type 1 안내서→ 1372 스타가르트 황반변성Stargardt macular degeneration 안내서→ 1373 원위 근병증 2Distal myopathy 2 안내서→ 1374 베타만노시도시스Beta-mannosidosis 안내서→ 1375 Milroy 질환Milroy disease 안내서→ 1376 뇌 folate transport 결핍증Cerebral folate transport deficiency 안내서→ 1377 Chylomicron retention 질환Chylomicron retention disease 안내서→ 1378 쿨렌-드 브리스 증후군Koolen-de Vries syndrome 안내서→ 1379 NGLY1-선천형l 질환의 deglycosylationNGLY1-congenital disorder of deglycosylation 안내서→ 1380 가족성 hypo베타lipo단백질emiaFamilial hypobetalipoproteinemia 안내서→ 1381 Biotinidase 결핍증Biotinidase deficiency 안내서→ 1382 레리-웨일 연골뼈형성이상증Léri-Weill dyschondrosteosis 안내서→ 1383 척추골단형성이상 동반 metatarsal shorteningSpondyloepiphyseal dysplasia with metatarsal shortening 안내서→ 1384 철불응성 철결핍성 빈혈Iron-refractory iron deficiency anemia 안내서→ 1385 노리에병Norrie disease 안내서→ 1386 Lattice 각막 디스트로피 I형Lattice corneal dystrophy type I 안내서→ 1387 DOLK-선천형l 질환의 glycosylationDOLK-congenital disorder of glycosylation 안내서→ 1388 포도당-갈락토스 흡수장애Glucose-galactose malabsorption 안내서→ 1389 Fuchs endothelial 디스트로피Fuchs endothelial dystrophy 안내서→ 1390 근간대경련-근긴장이상Myoclonus-dystonia 안내서→ 1391 Mannose-binding lectin 결핍증Mannose-binding lectin deficiency 안내서→ 1392 15q24 미세결실15q24 microdeletion 안내서→ 1393 베타-ureidopropionase 결핍증Beta-ureidopropionase deficiency 안내서→ 1394 거대정자증Macrozoospermia 안내서→ 1395 Corticosteroid-binding globulin 결핍증Corticosteroid-binding globulin deficiency 안내서→ 1396 Ghosal hematodiaphyseal 형성이상Ghosal hematodiaphyseal dysplasia 안내서→ 1397 레지우스 증후군Legius syndrome 안내서→ 1398 퓨린 및 피리미딘 대사의 기타 장애Hereditary xanthinuria 안내서→ 1399 Thanatophoric 형성이상Thanatophoric dysplasia 안내서→ 1400 알포트 증후군Alport syndrome 안내서→ 1401 MDA5 결핍증MDA5 deficiency 안내서→ 1402 선천형l bilateral absence의 vas deferensCongenital bilateral absence of the vas deferens 안내서→ 1403 신경페리틴병증Neuroferritinopathy 안내서→ 1404 판막상부 대동맥협착Supravalvular aortic stenosis 안내서→ 1405 XX 남성 증후군46,XX testicular difference of sex development 안내서→ 1406 Dubin-Johnson 증후군Dubin-Johnson syndrome 안내서→ 1407 아미시 치명성 소두증Amish lethal microcephaly 안내서→ 1408 Chanarin-Dorfman 증후군Chanarin-Dorfman syndrome 안내서→ 1409 Meige 질환Meige disease 안내서→ 1410 필레증후군Pyle disease 안내서→ 1411 Eosinophil 과산화효소 결핍증Eosinophil peroxidase deficiency 안내서→ 1412 빌트-호그-두베증후군Birt-Hogg-Dubé syndrome 안내서→ 1413 멘케스(꼬인모발)( 강모)병Menkes syndrome 안내서→ 1414 척수연수 근위축증Spinal and bulbar muscular atrophy 안내서→ 1415 크루존병Crouzon syndrome 안내서→ 1416 Jackson-Weiss 증후군Jackson-Weiss syndrome 안내서→ 1417 엘리스-반크레벨트증후군Ellis-van Creveld syndrome 안내서→ 1418 Ethylmalonic 뇌병증Ethylmalonic encephalopathy 안내서→ 1419 X-연관 creatine 결핍증X-linked creatine deficiency 안내서→ 1420 Hystrix-like ichthyosis 동반 난청Hystrix-like ichthyosis with deafness 안내서→ 1421 알란-헌든-더들리 증후군Allan-Herndon-Dudley syndrome 안내서→ 1422 푸마라제 결핍(증)Fumarase deficiency 안내서→ 1423 Guanidinoacetate methyltransferase 결핍증Guanidinoacetate methyltransferase deficiency 안내서→ 1424 메틸말론산혈증Methylmalonic acidemia 안내서→ 1425 인자 X 결핍증Factor X deficiency 안내서→ 1426 Complete plasminogen activator inhibitor 1 결핍증Complete plasminogen activator inhibitor 1 deficiency 안내서→ 1427 알스트롬 증후군Alström syndrome 안내서→ 1428 Adenosine monophosphate deaminase 결핍증Adenosine monophosphate deaminase deficiency 안내서→ 1429 Bart-Pumphrey 증후군Bart-Pumphrey syndrome 안내서→ 1430 Hypochromic microcytic 빈혈 동반 iron overloadHypochromic microcytic anemia with iron overload 안내서→ 1431 Van der Woude 증후군Van der Woude syndrome 안내서→ 1432 Prekallikrein 결핍증Prekallikrein deficiency 안내서→ 1433 CAV3-관련 원위 근병증CAV3-related distal myopathy 안내서→ 1434 Weyers acrofacial 골형성부전Weyers acrofacial dysostosis 안내서→ 1435 Glutamate formiminotransferase 결핍증Glutamate formiminotransferase deficiency 안내서→ 1436 숙신알데히드 탈수소효소 결핍(증)Succinic semialdehyde dehydrogenase deficiency 안내서→ 1437 Ichthyosis 동반 confettiIchthyosis with confetti 안내서→ 1438 외반모지Bunion 안내서→ 1439 팰리스터-홀 증후군Pallister-Hall syndrome 안내서→ 1440 칼륨 악화성 근긴장증Potassium-aggravated myotonia 안내서→ 1441 선천형l 난청 동반 labyrinthine 무형성, microtia, 및 microdontiaCongenital deafness with labyrinthine aplasia, microtia, and microdontia 안내서→ 1442 중증 연골무형성증-발달지연-흑색가시세포증(SADDAN)SADDAN 안내서→ 1443 Arrhythmogenic right ventricular cardio근병증Arrhythmogenic right ventricular cardiomyopathy 안내서→ 1444 치상핵적핵담창구시상하핵 위축증Dentatorubral-pallidoluysian atrophy 안내서→ 1445 Greenberg 형성이상Greenberg dysplasia 안내서→ 1446 PDGFRB-관련 만성 eosinophilic 백혈병PDGFRB-associated chronic eosinophilic leukemia 안내서→ 1447 가족성 적혈구증가Familial erythrocytosis 안내서→ 1448 알도스테론 생성 선종Aldosterone-producing adenoma 안내서→ 1449 SYNGAP1 관련 지적장애SYNGAP1-related intellectual disability 안내서→ 1450 Holocarboxylase synthetase 결핍증Holocarboxylase synthetase deficiency 안내서→ 1451 GABA-transaminase 결핍증GABA-transaminase deficiency 안내서→ 1452 유전성 감각성 및 자율신경성 신경병증 V형Hereditary sensory and autonomic neuropathy type V 안내서→ 1453 시스틴뇨증Cystinuria 안내서→ 1454 X-연관 지적장애 Siderius형X-linked intellectual disability, Siderius type 안내서→ 1455 운동실조 동반 vitamin E 결핍증Ataxia with vitamin E deficiency 안내서→ 1456 선천형l leptin 결핍증Congenital leptin deficiency 안내서→ 1457 아텔로스테오제네시스 2형Atelosteogenesis type 2 안내서→ 1458 Rotor 증후군Rotor syndrome 안내서→ 1459 단풍시럽뇨병Maple syrup urine disease 안내서→ 1460 다발성 피부·점막 정맥기형Multiple cutaneous and mucosal venous malformations 안내서→ 1461 Brody 근병증Brody myopathy 안내서→ 1462 JAK3-deficient severe 복합 immuno결핍증JAK3-deficient severe combined immunodeficiency 안내서→ 1463 난청 및 myopia 증후군Deafness and myopia syndrome 안내서→ 1464 알파-methylacyl-CoA racemase 결핍증Alpha-methylacyl-CoA racemase deficiency 안내서→ 1465 Stormorken 증후군Stormorken syndrome 안내서→ 1466 Y염색체 관련 난임Y chromosome infertility 안내서→ 1467 Christianson 증후군Christianson syndrome 안내서→ 1468 PPP2R5D-관련 지적장애PPP2R5D-related intellectual disability 안내서→ 1469 Phosphoglycerate mutase 결핍증Phosphoglycerate mutase deficiency 안내서→ 1470 맥락막결손Choroideremia 안내서→ 1471 Grange 증후군Grange syndrome 안내서→ 1472 Liddle 증후군Liddle syndrome 안내서→ 1473 베타-ketothiolase 결핍증Beta-ketothiolase deficiency 안내서→ 1474 Leptin 수용체 결핍증Leptin receptor deficiency 안내서→ 1475 진동성 두드러기Vibratory urticaria 안내서→ 1476 에드워드 증후군Trisomy 18 안내서→ 1477 X염색체 삼염색체증Trisomy X 안내서→ 1478 원위 arthrogryposis 1형Distal arthrogryposis type 1 안내서→ 1479 멜레다병Mal de Meleda 안내서→ 1480 상염색체 열성 소뇌성 운동실조 1형Autosomal recessive cerebellar ataxia type 1 안내서→ 1481 Langer mesomelic 형성이상Langer mesomelic dysplasia 안내서→ 1482 상염색체 열성 선천형l stationary night 실명Autosomal recessive congenital stationary night blindness 안내서→ 1483 방향화효소 과다 증후군Aromatase excess syndrome 안내서→ 1484 진행성 osseous heteroplasiaProgressive osseous heteroplasia 안내서→ 1485 Townes-Brocks 증후군Townes-Brocks Syndrome 안내서→ 1486 카테콜라민 다형성 심실성 빈맥Catecholaminergic polymorphic ventricular tachycardia 안내서→ 1487 근긴장이상 6Dystonia 6 안내서→ 1488 Uncombable hair 증후군Uncombable hair syndrome 안내서→ 1489 인자 V 결핍증Factor V deficiency 안내서→ 1490 Complement 인자 I 결핍증Complement factor I deficiency 안내서→ 1491 베르나르-술리에[거대혈소판]증후군Bernard-Soulier syndrome 안내서→ 1492 가족성 atrial fibrillationFamilial atrial fibrillation 안내서→ 1493 상염색체 우성 선천형l stationary night 실명Autosomal dominant congenital stationary night blindness 안내서→ 1494 Prothrombin 결핍증Prothrombin deficiency 안내서→ 1495 파타우 증후군Trisomy 13 안내서→ 1496 Greig cephalopolysyndactyly 증후군Greig cephalopolysyndactyly syndrome 안내서→ 1497 소아성 원발성 측삭경화증Juvenile primary lateral sclerosis 안내서→ 1498 UV-sensitive 증후군UV-sensitive syndrome 안내서→ 1499 Aminoacylase 1 결핍증Aminoacylase 1 deficiency 안내서→ 1500 X-연관 열성 척수소뇌성 운동실조 6형Spinocerebellar ataxia type 6 안내서→ 1501 가족성 male-limited precocious pubertyFamilial male-limited precocious puberty 안내서→ 1502 Glyco단백질 VI 결핍증Glycoprotein VI deficiency 안내서→ 1503 PPM-X 증후군PPM-X syndrome 안내서→ 1504 Spondyloperipheral 형성이상Spondyloperipheral dysplasia 안내서→ 1505 소아성 원발성 골다공증Juvenile primary osteoporosis 안내서→ 1506 Arginine:glycine amidinotransferase 결핍증Arginine:glycine amidinotransferase deficiency 안내서→ 1507 히스티딘혈증Histidinemia 안내서→ 1508 다발성 지방낭종Steatocystoma multiplex 안내서→ 1509 고양이울음증후군Cri-du-chat syndrome 안내서→ 1510 Fish-eye 질환Fish-eye disease 안내서→ 1511 Peeling skin 증후군 2Peeling skin syndrome 2 안내서→ 1512 Microcephaly, 발작, 및 developmental delayMicrocephaly, seizures, and developmental delay 안내서→ 1513 비증후군성 선천형l nail 질환 10Nonsyndromic congenital nail disorder 10 안내서→ 1514 트리메틸아민뇨증Trimethylaminuria 안내서→ 1515 Neutral lipid storage 질환 동반 근병증Neutral lipid storage disease with myopathy 안내서→ 1516 Warsaw breakage 증후군Warsaw breakage syndrome 안내서→ 1517 선천성 무손발톱증Anonychia congenita 안내서→ 1518 Palmoplantar keratoderma 동반 난청Palmoplantar keratoderma with deafness 안내서→ 1519 Cole 질환Cole disease 안내서→ 1520 단독 hyperCKemiaIsolated hyperCKemia 안내서→ 1521 X-연관 severe 복합 immuno결핍증X-linked severe combined immunodeficiency 안내서→ 1522 편평척추 형성이상 Torrance형Platyspondylic dysplasia, Torrance type 안내서→ 1523 원형두정자증Globozoospermia 안내서→ 1524 Malonyl-CoA decarboxylase 결핍증Malonyl-CoA decarboxylase deficiency 안내서→ 1525 난청-infertility 증후군Deafness-infertility syndrome 안내서→ 1526 North American Indian childhood 간경변증North American Indian childhood cirrhosis 안내서→ 1527 22q11.2 중복22q11.2 duplication 안내서→ 1528 동맥류Aneurysms 안내서→ 1529 Arteriovenous 기형sArteriovenous Malformations 안내서→ 1530 경동맥 질환Carotid Artery Disease 안내서→ 1531 심내막염Endocarditis 안내서→ 1532 Pericardial 질환Pericardial Disorders 안내서→ 1533 쇼크Shock 안내서→ 1534 혈관 질환Vascular Diseases 안내서→ 1535 혈전증Blood Clots 안내서→ 1536 애디슨병Addison Disease 안내서→ 1537 Ad신장 Gland 질환Adrenal Gland Disorders 안내서→ 1538 요붕증Diabetes Insipidus 안내서→ 1539 고혈당증Hyperglycemia 안내서→ 1540 크롬친화세포종Pheochromocytoma 안내서→ 1541 뇌하수체 질환Pituitary Disorders 안내서→ 1542 뇌하수체 종양Pituitary Tumors 안내서→ 1543 호흡문제Breathing Problems 안내서→ 1544 흡입손상Inhalation Injuries 안내서→ 1545 호흡부전Respiratory Failure 안내서→ 1546 기관질환Tracheal Disorders 안내서→ 1547 유착Adhesions 안내서→ 1548 항문질환Anal Disorders 안내서→ 1549 변실금Bowel Incontinence 안내서→ 1550 대장용종Colonic Polyps 안내서→ 1551 호산구성 식도염Eosinophilic Esophagitis 안내서→ 1552 식도질환Esophagus Disorders 안내서→ 1553 누공Fistulas 안내서→ 1554 위장관 출혈Gastrointestinal Bleeding 안내서→ 1555 글루텐 민감증Gluten Sensitivity 안내서→ 1556 식도열공탈장Hiatal Hernia 안내서→ 1557 장폐색Intestinal Obstruction 안내서→ 1558 흡수장애 증후군Malabsorption Syndromes 안내서→ 1559 담도질환Bile Duct Diseases 안내서→ 1560 담낭질환Gallbladder Diseases 안내서→ 1561 췌장 질환Pancreatic Diseases 안내서→ 1562 방광질환Bladder Diseases 안내서→ 1563 신부전Kidney Failure 안내서→ 1564 요관질환Ureteral Disorders 안내서→ 1565 요도질환Urethral Disorders 안내서→ 1566 청신경초종Acoustic Neuroma 안내서→ 1567 급성 Flaccid MyelitisAcute Flaccid Myelitis 안내서→ 1568 실어증Aphasia 안내서→ 1569 Brachial Plexus 손상Brachial Plexus Injuries 안내서→ 1570 Chiari 기형Chiari Malformation 안내서→ 1571 혼수Coma 안내서→ 1572 치매Dementia 안내서→ 1573 Dizziness 및 VertigoDizziness and Vertigo 안내서→ 1574 근긴장이상Dystonia 안내서→ 1575 뇌염Encephalitis 안내서→ 1576 경도인지장애Mild Cognitive Impairment 안내서→ 1577 Movement 질환Movement Disorders 안내서→ 1578 마비Paralysis 안내서→ 1579 경련Seizures 안내서→ 1580 척수 손상Spinal Cord Injuries 안내서→ 1581 외상성 뇌손상Traumatic Brain Injury 안내서→ 1582 도박장애Compulsive Gambling 안내서→ 1583 학습 장애Learning Disabilities 안내서→ 1584 기분 장애Mood Disorders 안내서→ 1585 공포 장애Phobias 안내서→ 1586 정신병적 장애Psychotic Disorders 안내서→ 1587 자해Self-Harm 안내서→ 1588 관절염Arthritis 안내서→ 1589 뼈 질환Bone Diseases 안내서→ 1590 뼈 감염Bone Infections 안내서→ 1591 연골 질환Cartilage Disorders 안내서→ 1592 추간판탈출증Herniated Disk 안내서→ 1593 패혈성 관절염Infectious Arthritis 안내서→ 1594 Joint 질환Joint Disorders 안내서→ 1595 근염Myositis 안내서→ 1596 골괴사Osteonecrosis 안내서→ 1597 구루병Rickets 안내서→ 1598 발목 손상 및 질환Ankle Injuries and Disorders 안내서→ 1599 등·허리 손상Back Injuries 안내서→ 1600 발 손상 및 질환Foot Injuries and Disorders 안내서→ 1601 무릎 손상 및 질환Knee Injuries and Disorders 안내서→ 1602 염좌와 근육긴장Sprains and Strains 안내서→ 1603 건염Tendinitis 안내서→ 1604 손목 손상 및 질환Wrist Injuries and Disorders 안내서→ 1605 무좀Athlete's Foot 안내서→ 1606 모반Birthmarks 안내서→ 1607 물집Blisters 안내서→ 1608 티눈과 굳은살Corns and Calluses 안내서→ 1609 탈모Hair Loss 안내서→ 1610 가려움증Itching 안내서→ 1611 욕창Pressure Sores 안내서→ 1612 피부감염Skin Infections 안내서→ 1613 백선Tinea Infections 안내서→ 1614 사마귀Warts 안내서→ 1615 조류인플루엔자Bird Flu 안내서→ 1616 클로스트리디오이데스 디피실 감염C. diff Infections 안내서→ 1617 캄필로박터 감염Campylobacter Infections 안내서→ 1618 치쿤구니아열Chikungunya 안내서→ 1619 거대세포바이러스 감염Cytomegalovirus Infections 안내서→ 1620 대장균 감염E. coli Infections 안내서→ 1621 에볼라 출혈열Ebola 안내서→ 1622 지아르디아증Giardia Infections 안내서→ 1623 임질Gonorrhea 안내서→ 1624 신종 인플루엔자 A(H1N1)H1N1 Flu (Swine Flu) 안내서→ 1625 리스테리아증Listeria Infections 안내서→ 1626 말라리아Malaria 안내서→ 1627 수막염Meningitis 안내서→ 1628 메티실린 내성 황색 포도상구균MRSA 안내서→ 1629 노로바이러스 감염Norovirus Infections 안내서→ 1630 폐포자충증Pneumocystis Infections 안내서→ 1631 로타바이러스성 위장염Rotavirus Infections 안내서→ 1632 살모넬라증Salmonella Infections 안내서→ 1633 콕시디오이데스진균증(계곡열)Valley Fever 안내서→ 1634 웨스트 나일 바이러스West Nile Virus 안내서→ 1635 칸디다증Yeast Infections 안내서→ 1636 지카바이러스 감염Zika Virus 안내서→ 1637 자궁경부질환Cervix Disorders 안내서→ 1638 난소질환Ovarian Disorders 안내서→ 1639 골반저질환Pelvic Floor Disorders 안내서→ 1640 자궁질환Uterine Diseases 안내서→ 1641 질질환Vaginal Diseases 안내서→ 1642 음경질환Penis Disorders 안내서→ 1643 전립선질환Prostate Diseases 안내서→ 1644 고환질환Testicular Disorders 안내서→ 1645 급성 림프모구 백혈병Acute Lymphocytic Leukemia 안내서→ 1646 급성 골수성 백혈병Acute Myeloid Leukemia 안내서→ 1647 부신암Adrenal Gland Cancer 안내서→ 1648 항문암Anal Cancer 안내서→ 1649 뇌종양Brain Tumors 안내서→ 1650 유암종Carcinoid Tumors 안내서→ 1651 만성 림프모구 백혈병Chronic Lymphocytic Leukemia 안내서→ 1652 담낭암Gallbladder Cancer 안내서→ 1653 창자암Intestinal Cancer 안내서→ 1654 카포시육종Kaposi Sarcoma 안내서→ 1655 중피종Mesothelioma 안내서→ 1656 구강암Oral Cancer 안내서→ 1657 피부암Skin Cancer 안내서→ 1658 연부조직육종Soft Tissue Sarcoma 안내서→ 1659 고환암Testicular Cancer 안내서→ 1660 흉선암Thymus Cancer 안내서→ 1661 질암Vaginal Cancer 안내서→ 1662 외음부암Vulvar Cancer 안내서→ 1663 약시Amblyopia 안내서→ 1664 각막 질환Corneal Disorders 안내서→ 1665 Eye 감염Eye Infections 안내서→ 1666 Eye 손상Eye Injuries 안내서→ 1667 Eye Movement 질환Eye Movement Disorders 안내서→ 1668 시신경 Nerve 질환Optic Nerve Disorders 안내서→ 1669 Retinal 질환Retinal Disorders 안내서→ 1670 구취Bad Breath 안내서→ 1671 균형장애Balance Problems 안내서→ 1672 잠수병Barotrauma 안내서→ 1673 Ear 질환Ear Disorders 안내서→ 1674 Mouth 질환Mouth Disorders 안내서→ 1675 Nasal 암Nasal Cancer 안내서→ 1676 Salivary Gland 질환Salivary Gland Disorders 안내서→ 1677 Taste 및 Smell 질환Taste and Smell Disorders 안내서→ 1678 Throat 질환Throat Disorders 안내서→ 1679 Tooth 질환Tooth Disorders 안내서→ 1680 Voice 질환Voice Disorders 안내서→ 1681 자가 면역 질환Autoimmune Diseases 안내서→ 1682 Bleeding 질환Bleeding Disorders 안내서→ 1683 뼈 Marrow 질환Bone Marrow Diseases 안내서→ 1684 Eosinophilic 질환Eosinophilic Disorders 안내서→ 1685 라텍스 알레르기Latex Allergy 안내서→ 1686 림프병Lymphatic Diseases 안내서→ 1687 림프부종Lymphedema 안내서→ 1688 Platelet 질환Platelet Disorders 안내서→ 1689 Spleen 질환Spleen Diseases 안내서→