Penyakit A–Z: gejala, pemeriksaan, dan perawatan

01HipertensiHypertension Panduan 02Penyakit jantung hipertensifHypertensive Heart Disease Panduan 03Penyakit arteri koronerCoronary Artery Disease Panduan 04Angina pektorisAngina Panduan 05Serangan jantung (infark miokard)Heart Attack / Myocardial Infarction Panduan 06AritmiaArrhythmia Panduan 07Fibrilasi atriumAtrial Fibrillation Panduan 08Gagal jantungHeart Failure Panduan 09AterosklerosisAtherosclerosis Panduan 10Penyakit arteri periferalPeripheral Artery Disease Panduan 11Sindrom kelas ekonomiDeep Vein Thrombosis Panduan 12PilekCommon cold Panduan 13Acute Pharyngitis (nama medis internasional)Acute Pharyngitis Panduan 14Acute Bronchitis (nama medis internasional)Acute Bronchitis Panduan 15BronkitisChronic bronchitis Panduan 16Penyakit paru obstruktif kronisChronic obstructive pulmonary disease (COPD) Panduan 17AsmaAsthma Panduan 18PneumoniaPneumonia Panduan 19Interstitial Lung Diseases (nama medis internasional)Interstitial Lung Diseases Panduan 20EmfisemEmphysema Panduan 21BronkientasisBronchiectasis Panduan 22PleuritisPleurisy Panduan 23Penyakit refluks gastroesofagealGastroesophageal reflux disease (GERD) Panduan 24Penyakit tukak peptikPeptic ulcer disease Panduan 25Sindrom iritasi ususIrritable Bowel Syndrome Panduan 26KonstipasiConstipation Panduan 27Penyakit perlemakan hati non-alkoholikMASLD Panduan 28Batu empeduGallstones Panduan 29KolesistitisCholecystitis Panduan 30WasirHemorrhoids Panduan 31Diabetes melitus tipe 2Type 2 diabetes Panduan 32Diabetes melitus tipe 1Type 1 Diabetes Panduan 33Retinopati diabetesDiabetic Retinopathy Panduan 34HipertiroidismeHyperthyroidism Panduan 35HipotiroidismeHypothyroidism Panduan 36Artritis goutGout Panduan 37HiperkolesterolemiaHigh Cholesterol / Hyperlipidemia Panduan 38ObesitasObesity Panduan 39OsteoporosisOsteoporosis Panduan 40Infeksi saluran kemihUrinary Tract Infection Panduan 41Serangan iskemik transienTransient Ischemic Attack Panduan 42Stroke iskemikIschemic stroke Panduan 43Stroke hemoragikHemorrhagic Stroke Panduan 44MigrainMigraine Panduan 45Sakit kepala tipe keteganganTension-Type Headache Panduan 46Neuralgia trigeminalTrigeminal neuralgia Panduan 47Bell Palsy (nama medis internasional)Bell Palsy Panduan 48SkiatikaSciatica Panduan 49Penyakit ParkinsonParkinson Disease Panduan 50Penyakit AlzheimerAlzheimer Disease Panduan 51EpilepsiEpilepsy Panduan 52Apnea tidurSleep Apnea Panduan 53Kerusakan saraf tepiPeripheral Neuropathy Panduan 54Sindrom Guillain–BarréGuillain-Barré syndrome Panduan 55Sklerosis multipelMultiple Sclerosis Panduan 56Myastenia gravisMyasthenia Gravis Panduan 57Anemia defisiensi besiIron-Deficiency Anemia Panduan 58Immune Thrombocytopenia (nama medis internasional)Immune Thrombocytopenia Panduan 59Limfoma HodgkinHodgkin lymphoma Panduan 60Artritis reumatoidRheumatoid arthritis Panduan 61Ankilosing spodilitisAnkylosing Spondylitis Panduan 62Lupus eritematosus sistemikSystemic Lupus Erythematosus Panduan 63Sindrom SjögrenSjogren Syndrome Panduan 64Psoriatic Arthritis (nama medis internasional)Psoriatic Arthritis Panduan 65SepsisSepsis Panduan 66AnafilaksisAnaphylaxis Panduan 67ApendisitisAppendicitis Panduan 68Luka bakarBurns Panduan 69MemarBruises Panduan 70Batu ginjalKidney stones Panduan 71BPHBenign Prostatic Hyperplasia Panduan 72ProstatitisProstatitis Panduan 73VaricoceleVaricocele Panduan 74VarisesVaricose Veins Panduan 75SelulitisCellulitis Panduan 76BisulAbscess Panduan 77Kanker tiroidThyroid Cancer Panduan 78Carpal tunnel syndromeCarpal Tunnel Syndrome Panduan 79Siku tenisTennis Elbow Panduan 80Meniscus Injury (nama medis internasional)Meniscus Injury Panduan 81DislokasiDislocations Panduan 82Dislokasi bahuDislocated Shoulder Panduan 83BursitisBursitis Panduan 84VaginitisVaginitis Panduan 85Penyakit radang pelvisPelvic Inflammatory Disease Panduan 86Mioma uteriUterine Fibroids Panduan 87Kista ovariumOvarian Cysts Panduan 88Sindrom ovarium polikistikPCOS Panduan 89AdenomyosisAdenomyosis Panduan 90Perimenopause and Menopause (nama medis internasional)Perimenopause and Menopause Panduan 91Kehamilan ektopikEctopic Pregnancy Panduan 92Primary Ovarian Insufficiency (nama medis internasional)Primary Ovarian Insufficiency Panduan 93EndometriosisEndometriosis Panduan 94Penyakit tangan, kaki, dan mulutHand, Foot and Mouth Disease Panduan 95UrtikariaUrticaria Panduan 96Gangguan pemusatan perhatian hiperaktivitasADHD Panduan 97Penyakit KawasakiKawasaki disease Panduan 98Kejang demamFebrile Seizures Panduan 99Neonatal Jaundice (nama medis internasional)Neonatal Jaundice Panduan 100Lumpuh otakCerebral Palsy Panduan 101Penyakit mata keringDry Eye Disease Panduan 102KonjungtivitisConjunctivitis Panduan 103KalazionChalazion Panduan 104KatarakCataract Panduan 105GlaukomaGlaucoma Panduan 106PresbiopiaPresbyopia Panduan 107Retina putusRetinal Detachment Panduan 108Degenerasi makulaAge-Related Macular Degeneration Panduan 109Rinitis alergiAllergic Rhinitis Panduan 110SinusitisSinusitis Panduan 111Otitis mediaOtitis Media Panduan 112TinitusTinnitus Panduan 113Vertigo posisional paroksismal benignaBPPV Panduan 114Penyakit periodontalPeriodontitis Panduan 115Canker Sores (nama medis internasional)Canker Sores Panduan 116Karies gigiDental Caries Panduan 117TMJ Disorders (nama medis internasional)TMJ Disorders Panduan 118Contact Dermatitis (nama medis internasional)Contact Dermatitis Panduan 119JerawatAcne Panduan 120RosaseaRosacea Panduan 121Herpes zosterShingles Panduan 122VitiligoVitiligo Panduan 123PsoriasisPsoriasis Panduan 124Alopesia areataAlopecia Areata Panduan 125SkabiesScabies Panduan 126SifilisSyphilis Panduan 127Kondiloma akuminataGenital warts Panduan 128Gangguan kecemasan menyeluruhGeneralized Anxiety Disorder Panduan 129Gangguan depresi mayorMajor depressive disorder Panduan 130Gangguan obsesif kompulsifObsessive-Compulsive Disorder Panduan 131Gangguan panikPanic Disorder Panduan 132Gangguan bipolarBipolar Disorder Panduan 133SkizofreniaSchizophrenia Panduan 134Anoreksia nervosaAnorexia Nervosa Panduan 135Gangguan stres pascatraumaPTSD Panduan 136Gangguan kepribadianPersonality Disorders Panduan 137Penyakit BehçetBehçet disease Panduan 138Giant cell arteritis (nama medis internasional)Giant cell arteritis Panduan 139Granulomatosis WegenerGranulomatosis with polyangiitis Panduan 140Systemic scleroderma (nama medis internasional)Systemic scleroderma Panduan 141Sindrom antibodi antifosfolipidAntiphospholipid syndrome Panduan 142FibromyalgiaFibromyalgia Panduan 143InfluenzaInfluenza (flu) Panduan 144COVID-19COVID-19 Panduan 145Cacar airChickenpox Panduan 146BegukMumps Panduan 147Helicobacter pylori Infections (nama medis internasional)Helicobacter pylori Infections Panduan 148Hepatitis BHepatitis B Panduan 149RubelaRubella Panduan 150CampakMeasles Panduan 151Demam berdarah dengueDengue Panduan 152TuberkulosisTuberculosis Panduan 153Kanker paruLung cancer Panduan 154Kanker lambungStomach Cancer Panduan 155Kanker kolorektalColorectal Cancer Panduan 156Kanker hatiLiver Cancer Panduan 157Kanker payudaraBreast cancer Panduan 158Kanker serviksCervical Cancer Panduan 159Kanker prostatProstate Cancer Panduan 160Kanker esofagusEsophageal Cancer Panduan 161Kanker ovariumOvarian Cancer Panduan 162Kanker pankreasPancreatic Cancer Panduan 163Kanker kandung kemihBladder cancer Panduan 164Kidney Cancer (nama medis internasional)Kidney Cancer Panduan 165Kanker endometriumEndometrial Cancer Panduan 166LimfomaLymphoma Panduan 167LeukemiaLeukemia Panduan 168Sel mielomaMultiple myeloma Panduan 169Cedera ginjal akutAcute Kidney Injury Panduan 170Patah tulang (fraktur)Fractures Panduan 171Henti jantungSudden Cardiac Arrest Panduan 172Heart Valve Disease (nama medis internasional)Heart Valve Disease Panduan 173KardiomiopatiCardiomyopathy Panduan 174StrokeStroke Panduan 175Aneurisma otakBrain Aneurysm Panduan 176Emboli paruPulmonary Embolism Panduan 177Aneurisma aortaAortic Aneurysm Panduan 178Raynaud Phenomenon (nama medis internasional)Raynaud Phenomenon Panduan 179Orthostatic Hypotension (nama medis internasional)Orthostatic Hypotension Panduan 180POTSPOTS Panduan 181PradiabetesPrediabetes Panduan 182Diabetes gestasionalGestational Diabetes Panduan 183Sindrom resistansi insulinMetabolic Syndrome Panduan 184Hashimoto Thyroiditis (nama medis internasional)Hashimoto Thyroiditis Panduan 185Penyakit BasedowGraves Disease Panduan 186Apnea tidur obstruktifObstructive Sleep Apnea Panduan 187Fibrosis paruPulmonary Fibrosis Panduan 188Hipertensi paruPulmonary Hypertension Panduan 189GastritisGastritis Panduan 190Crohn Disease (nama medis internasional)Crohn Disease Panduan 191Kolitis ulseratifUlcerative Colitis Panduan 192Penyakit seliakCeliac Disease Panduan 193Diverticular Disease (nama medis internasional)Diverticular Disease Panduan 194GastroenteritisGastroenteritis Panduan 195Hepatitis CHepatitis C Panduan 196Sirosis hatiCirrhosis Panduan 197PankreatitisPancreatitis Panduan 198HemokromatosisHemochromatosis Panduan 199Penyakit ginjal kronisChronic kidney disease Panduan 200Overactive Bladder (nama medis internasional)Overactive Bladder Panduan 201InkontinensiaUrinary Incontinence Panduan 202Interstitial Cystitis (nama medis internasional)Interstitial Cystitis Panduan 203Essential Tremor (nama medis internasional)Essential Tremor Panduan 204Gangguan spektrum autismeAutism Spectrum Disorder Panduan 205Insomnia Disorder (nama medis internasional)Insomnia Disorder Panduan 206OsteoartritisOsteoarthritis Panduan 207Nyeri punggung bawahLow Back Pain Panduan 208Bahu bekuFrozen Shoulder Panduan 209Rotator Cuff Injury (nama medis internasional)Rotator Cuff Injury Panduan 210Fascitis plantarPlantar Fasciitis Panduan 211Achilles Tendinopathy (nama medis internasional)Achilles Tendinopathy Panduan 212ACL Injury (nama medis internasional)ACL Injury Panduan 213Gegar otakConcussion Panduan 214CRPS (nama medis internasional)CRPS Panduan 215Dermatitis atopikAtopic Dermatitis Panduan 216Fungal Skin Infection (nama medis internasional)Fungal Skin Infection Panduan 217COVID-19 jangka panjangLong COVID Panduan 218AIDSHIV/AIDS Panduan 219Human papillomavirusHPV Infection Panduan 220Herpes simpleksHerpes Simplex Panduan 221Penyakit LymeLyme Disease Panduan 222Demam kelenjarInfectious Mononucleosis Panduan 223VulvodyniaVulvodynia Panduan 224Sindrom prahaidPMS Panduan 225Gangguan disforik prahaidPMDD Panduan 226Infertilitas pada wanitaFemale Infertility Panduan 227Kemandulan pada priaMale Infertility Panduan 228Disfungsi ereksiErectile Dysfunction Panduan 229Ejakulasi diniPremature Ejaculation Panduan 230Male Hypogonadism (nama medis internasional)Male Hypogonadism Panduan 231Peyronie Disease (nama medis internasional)Peyronie Disease Panduan 232PreeklamsiaPreeclampsia Panduan 233Depresi pasca melahirkanPostpartum Depression Panduan 234MelanomaMelanoma Panduan 235MiopiMyopia Panduan 236Keratoconus (nama medis internasional)Keratoconus Panduan 237Uveitis (nama medis internasional)Uveitis Panduan 238Kehilangan pendengaranHearing Loss Panduan 239Radang amandelTonsillitis Panduan 240Vitamin B12 Deficiency Anemia (nama medis internasional)Vitamin B12 Deficiency Anemia Panduan 241Anemia sel sabitSickle Cell Disease Panduan 242TalasemiaThalassemia Panduan 243HemofiliaHemophilia Panduan 244NeutropeniaNeutropenia Panduan 245Alergi makananFood Allergy Panduan 246RSV Infection (nama medis internasional)RSV Infection Panduan 247CroupCroup Panduan 248Penyakit jantung bawaanCongenital Heart Disease Panduan 249Adolescent Idiopathic Scoliosis (nama medis internasional)Adolescent Idiopathic Scoliosis Panduan 250Nocturnal Enuresis (nama medis internasional)Nocturnal Enuresis Panduan 251Developmental Dysplasia of the Hip (nama medis internasional)Developmental Dysplasia of the Hip Panduan 252KoleraCholera Panduan 253Palsi supranuklear progresifProgressive supranuclear palsy Panduan 254PemfigusPemphigus Panduan 255Polimialgia reumatikPolymyalgia rheumatica Panduan 256Gugur kandunganAbortion Panduan 257HipotermiaHypothermia Panduan 258BotulismeBotulism Panduan 259Mitral valve prolapse (nama medis internasional)Mitral valve prolapse Panduan 260MenopauseMenopause Panduan 261MeningoceleSpina bifida Panduan 262Mabuk gerakMotion sickness Panduan 263KriptosporidiosisCryptosporidiosis Panduan 264VaskulitisVasculitis Panduan 265DeliriumDelirium Panduan 266Ataksia FriedreichFriedreich ataxia Panduan 267SkoliosisScoliosis Panduan 268TrikomoniasisTrichomoniasis Panduan 269Kekurangan vitamin DVitamin D deficiency Panduan 270Sindrom TouretteTourette syndrome Panduan 271Fibrosis sistikCystic fibrosis Panduan 272Stenosis tulang belakangSpinal stenosis Panduan 273FenilketonuriaPhenylketonuria Panduan 274Leukodystrophies (nama medis internasional)Leukodystrophies Panduan 275ImpetigoImpetigo Panduan 276Hidradenitis supurativaHidradenitis suppurativa Panduan 277PesPlague Panduan 278AntraksAnthrax Panduan 279SarcoidosisSarcoidosis Panduan 280Cat-scratch disease (nama medis internasional)Cat-scratch disease Panduan 281Batuk rejanWhooping cough Panduan 282TetanusTetanus Panduan 283DifteriDiphtheria Panduan 284Penyakit LegionnairesLegionnaires disease Panduan 285MeningokokusMeningococcal disease Panduan 286RabiesRabies Panduan 287Sklerosis lateral amiotrofikAmyotrophic lateral sclerosis Panduan 288Spinal muscular atrophy (nama medis internasional)Spinal muscular atrophy Panduan 289CacarSmallpox Panduan 290Cacar monyetMpox Panduan 291Distrofi ototMuscular dystrophy Panduan 292AspergilosisAspergillosis Panduan 293HistoplasmosisHistoplasmosis Panduan 294Penyakit ChagasChagas disease Panduan 295LeishmaniasisLeishmaniasis Panduan 296Alpha-1-antitrypsin deficiency (nama medis internasional)Alpha-1-antitrypsin deficiency Panduan 297ToksoplasmosisToxoplasmosis Panduan 298Osteogenesis imperfectaOsteogenesis imperfecta Panduan 299Intoleransi laktosaLactose intolerance Panduan 300Penyakit wilsonWilson disease Panduan 301DehidrasiDehydration Panduan 302AmiloidosisAmyloidosis Panduan 303HidrosefalusHydrocephalus Panduan 304Sindrom MarfanMarfan syndrome Panduan 305Sindrom Ehlers-DanlosEhlers-Danlos syndrome Panduan 306Sindrom ReyeReye syndrome Panduan 307Tuberous sclerosis (nama medis internasional)Tuberous sclerosis Panduan 308Sindrom UsherUsher syndrome Panduan 309Sindrom TurnerTurner syndrome Panduan 310Sindrom KlinefelterKlinefelter syndrome Panduan 311Sindrom Prader–WilliPrader-Willi syndrome Panduan 312Sindrom RettRett syndrome Panduan 313XerostomiaXerostomia Panduan 314AstigmatismaAstigmatism Panduan 315Penyakit periodontal (Periodontal disease)Periodontal disease Panduan 316Myhre syndrome (nama medis internasional)Myhre syndrome Panduan 317Aicardi-Goutières syndrome (nama medis internasional)Aicardi-Goutières syndrome Panduan 318Abdominal wall defect (nama medis internasional)Abdominal wall defect Panduan 319Pol III-related leukodystrophy (nama medis internasional)Pol III-related leukodystrophy Panduan 32015q11-q13 duplication syndrome (nama medis internasional)15q11-q13 duplication syndrome Panduan 321Penyakit Charcot-Marie-ToothCharcot-Marie-Tooth disease Panduan 322Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (nama medis internasional)Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy Panduan 323Multiminicore disease (nama medis internasional)Multiminicore disease Panduan 324Epilepsy-aphasia spectrum (nama medis internasional)Epilepsy-aphasia spectrum Panduan 325Wolfram syndrome (nama medis internasional)Wolfram syndrome Panduan 326Primary ciliary dyskinesia (nama medis internasional)Primary ciliary dyskinesia Panduan 327Langerhans cell histiocytosis (nama medis internasional)Langerhans cell histiocytosis Panduan 328AdrenoleukodistrofiX-linked adrenoleukodystrophy Panduan 329Noonan syndrome (nama medis internasional)Noonan syndrome Panduan 330Sindrom Noonan dengan banyak lentiginNoonan syndrome with multiple lentigines Panduan 331Xeroderma pigmentosumXeroderma pigmentosum Panduan 332Nonsyndromic holoprosencephaly (nama medis internasional)Nonsyndromic holoprosencephaly Panduan 333Caudal regression syndrome (nama medis internasional)Caudal regression syndrome Panduan 334Waldenström macroglobulinemia (nama medis internasional)Waldenström macroglobulinemia Panduan 335Focal dermal hypoplasia (nama medis internasional)Focal dermal hypoplasia Panduan 336CHARGE syndrome (nama medis internasional)CHARGE syndrome Panduan 337Congenital generalized lipodystrophy (nama medis internasional)Congenital generalized lipodystrophy Panduan 338TRNT1 deficiency (nama medis internasional)TRNT1 deficiency Panduan 339TUBB4A-related leukodystrophy (nama medis internasional)TUBB4A-related leukodystrophy Panduan 340Ataxia with oculomotor apraxia (nama medis internasional)Ataxia with oculomotor apraxia Panduan 341Barth syndrome (nama medis internasional)Barth syndrome Panduan 342Carpenter syndrome (nama medis internasional)Carpenter syndrome Panduan 343Bohring-Opitz syndrome (nama medis internasional)Bohring-Opitz syndrome Panduan 344Juvenile idiopathic arthritis (nama medis internasional)Juvenile idiopathic arthritis Panduan 345Nicolaides-Baraitser syndrome (nama medis internasional)Nicolaides-Baraitser syndrome Panduan 346Brain-lung-thyroid syndrome (nama medis internasional)Brain-lung-thyroid syndrome Panduan 347Metachromatic leukodystrophy (nama medis internasional)Metachromatic leukodystrophy Panduan 348Mucopolysaccharidosis type II (nama medis internasional)Mucopolysaccharidosis type II Panduan 349Hajdu-Cheney syndrome (nama medis internasional)Hajdu-Cheney syndrome Panduan 350Dystrophic epidermolysis bullosa (nama medis internasional)Dystrophic epidermolysis bullosa Panduan 351Penyakit HansenLeprosy Panduan 352Collagen VI-related dystrophy (nama medis internasional)Collagen VI-related dystrophy Panduan 353McCune-Albright syndrome (nama medis internasional)McCune-Albright syndrome Panduan 354RAB18 deficiency (nama medis internasional)RAB18 deficiency Panduan 355Dandy-Walker malformation (nama medis internasional)Dandy-Walker malformation Panduan 356Sindrom Klippel–FeilKlippel-Feil syndrome Panduan 357Septo-optic dysplasia (nama medis internasional)Septo-optic dysplasia Panduan 358Transthyretin amyloidosis (nama medis internasional)Transthyretin amyloidosis Panduan 359Dyskeratosis congenita (nama medis internasional)Dyskeratosis congenita Panduan 360Beta-propeller protein-associated neurodegeneration (nama medis internasional)Beta-propeller protein-associated neurodegeneration Panduan 361Costello syndrome (nama medis internasional)Costello syndrome Panduan 362Shwachman-Diamond syndrome (nama medis internasional)Shwachman-Diamond syndrome Panduan 363Freeman-Sheldon syndrome (nama medis internasional)Freeman-Sheldon syndrome Panduan 364Sindrom XXYY48,XXYY syndrome Panduan 365Hereditary paraganglioma-pheochromocytoma (nama medis internasional)Hereditary paraganglioma-pheochromocytoma Panduan 366PLCG2-associated antibody deficiency and immune dysregulation (nama medis internasional)PLCG2-associated antibody deficiency and immune dysregulation Panduan 367Lysosomal acid lipase deficiency (nama medis internasional)Lysosomal acid lipase deficiency Panduan 368Sturge-Weber syndrome (nama medis internasional)Sturge-Weber syndrome Panduan 369Familial thoracic aortic aneurysm and dissection (nama medis internasional)Familial thoracic aortic aneurysm and dissection Panduan 370Sialidosis (nama medis internasional)Sialidosis Panduan 37117 alpha-hydroxylase/17,20-lyase deficiency (nama medis internasional)17 alpha-hydroxylase/17,20-lyase deficiency Panduan 372Carnitine palmitoyltransferase II deficiency (nama medis internasional)Carnitine palmitoyltransferase II deficiency Panduan 373Sindrom delesi 22q1122q11.2 deletion syndrome Panduan 374Penyakit granuloma kronikChronic granulomatous disease Panduan 375Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome (nama medis internasional)Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome Panduan 376AlkoholismeAlcohol use disorder Panduan 377Penyakit AndersonGlycogen storage disease type IV Panduan 378Sindrom cutis laxaCutis laxa Panduan 379Maturity-onset diabetes of the young (nama medis internasional)Maturity-onset diabetes of the young Panduan 380Sindrom Loeys-DietzLoeys-Dietz syndrome Panduan 381Hennekam syndrome (nama medis internasional)Hennekam syndrome Panduan 382Epidermolysis bullosa simplex (nama medis internasional)Epidermolysis bullosa simplex Panduan 383Carney complex (nama medis internasional)Carney complex Panduan 384Familial adenomatous polyposis (nama medis internasional)Familial adenomatous polyposis Panduan 385Penyakit DupuytrenDupuytren contracture Panduan 386Neuromyelitis optica (nama medis internasional)Neuromyelitis optica Panduan 387Histiocytosis-lymphadenopathy plus syndrome (nama medis internasional)Histiocytosis-lymphadenopathy plus syndrome Panduan 388Lipoid proteinosis (nama medis internasional)Lipoid proteinosis Panduan 389Mucopolysaccharidosis type III (nama medis internasional)Mucopolysaccharidosis type III Panduan 390Spastic paraplegia type 49 (nama medis internasional)Spastic paraplegia type 49 Panduan 391Cyclic vomiting syndrome (nama medis internasional)Cyclic vomiting syndrome Panduan 392Central core disease (nama medis internasional)Central core disease Panduan 393PorfiriaPorphyria Panduan 394Cartilage-hair hypoplasia (nama medis internasional)Cartilage-hair hypoplasia Panduan 395Osteopetrosis (nama medis internasional)Osteopetrosis Panduan 396Giant congenital melanocytic nevus (nama medis internasional)Giant congenital melanocytic nevus Panduan 397Poikiloderma with neutropenia (nama medis internasional)Poikiloderma with neutropenia Panduan 398Mevalonate kinase deficiency (nama medis internasional)Mevalonate kinase deficiency Panduan 399Mucopolysaccharidosis type I (nama medis internasional)Mucopolysaccharidosis type I Panduan 400GM1 gangliosidosis (nama medis internasional)GM1 gangliosidosis Panduan 401Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (nama medis internasional)Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome Panduan 40249, XXXXY49,XXXXY syndrome Panduan 403Heterotaxy syndrome (nama medis internasional)Heterotaxy syndrome Panduan 404Woodhouse-Sakati syndrome (nama medis internasional)Woodhouse-Sakati syndrome Panduan 405Bannayan-Riley-Ruvalcaba syndrome (nama medis internasional)Bannayan-Riley-Ruvalcaba syndrome Panduan 406Trichothiodystrophy (nama medis internasional)Trichothiodystrophy Panduan 407Pallister-Killian mosaic syndrome (nama medis internasional)Pallister-Killian mosaic syndrome Panduan 408Hypermanganesemia with dystonia (nama medis internasional)Hypermanganesemia with dystonia Panduan 409Lacrimo-auriculo-dento-digital syndrome (nama medis internasional)Lacrimo-auriculo-dento-digital syndrome Panduan 410Hereditary neuralgic amyotrophy (nama medis internasional)Hereditary neuralgic amyotrophy Panduan 411Pitt-Hopkins syndrome (nama medis internasional)Pitt-Hopkins syndrome Panduan 412HipopituitarismeCombined pituitary hormone deficiency Panduan 413Hereditary cerebral amyloid angiopathy (nama medis internasional)Hereditary cerebral amyloid angiopathy Panduan 414Sindrom DownDown syndrome Panduan 415Tyrosine hydroxylase deficiency (nama medis internasional)Tyrosine hydroxylase deficiency Panduan 416Lennox-Gastaut syndrome (nama medis internasional)Lennox-Gastaut syndrome Panduan 417Pontocerebellar hypoplasia (nama medis internasional)Pontocerebellar hypoplasia Panduan 418Zellweger spectrum disorder (nama medis internasional)Zellweger spectrum disorder Panduan 419Osteoglophonic dysplasia (nama medis internasional)Osteoglophonic dysplasia Panduan 420Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (nama medis internasional)Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Panduan 421Vici syndrome (nama medis internasional)Vici syndrome Panduan 422Penyakit von GierkeGlycogen storage disease type I Panduan 423Mitochondrial complex V deficiency (nama medis internasional)Mitochondrial complex V deficiency Panduan 424SLC4A1-associated distal renal tubular acidosis (nama medis internasional)SLC4A1-associated distal renal tubular acidosis Panduan 425Pearson syndrome (nama medis internasional)Pearson syndrome Panduan 426Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (nama medis internasional)Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Panduan 427Dyserythropoietic anemia and thrombocytopenia (nama medis internasional)Dyserythropoietic anemia and thrombocytopenia Panduan 428Methylmalonic acidemia with homocystinuria (nama medis internasional)Methylmalonic acidemia with homocystinuria Panduan 429DOORS syndrome (nama medis internasional)DOORS syndrome Panduan 430Sindrom ATArterial tortuosity syndrome Panduan 431Juvenile polyposis syndrome (nama medis internasional)Juvenile polyposis syndrome Panduan 432Hemoglobinuria nokturnal paroksismalParoxysmal nocturnal hemoglobinuria Panduan 433Sindrom LeighLeigh syndrome Panduan 434Diamond-Blackfan anemia (nama medis internasional)Diamond-Blackfan anemia Panduan 435Parathyroid cancer (nama medis internasional)Parathyroid cancer Panduan 436Spondyloepiphyseal dysplasia congenita (nama medis internasional)Spondyloepiphyseal dysplasia congenita Panduan 437Blau syndrome (nama medis internasional)Blau syndrome Panduan 438Familial partial lipodystrophy (nama medis internasional)Familial partial lipodystrophy Panduan 439Amelogenesis imperfecta (nama medis internasional)Amelogenesis imperfecta Panduan 440CDKL5 deficiency disorder (nama medis internasional)CDKL5 deficiency disorder Panduan 441Citrullinemia (nama medis internasional)Citrullinemia Panduan 442Tumor macroadonema hypophyseFamilial isolated pituitary adenoma Panduan 443Oral-facial-digital syndrome (nama medis internasional)Oral-facial-digital syndrome Panduan 444Schinzel-Giedion syndrome (nama medis internasional)Schinzel-Giedion syndrome Panduan 445Task-specific focal dystonia (nama medis internasional)Task-specific focal dystonia Panduan 446Hereditary pancreatitis (nama medis internasional)Hereditary pancreatitis Panduan 447Sindrom WilliamsWilliams syndrome Panduan 448Cowden syndrome (nama medis internasional)Cowden syndrome Panduan 449CASK-related intellectual disability (nama medis internasional)CASK-related intellectual disability Panduan 450Primary coenzyme Q10 deficiency (nama medis internasional)Primary coenzyme Q10 deficiency Panduan 451Deoxyguanosine kinase deficiency (nama medis internasional)Deoxyguanosine kinase deficiency Panduan 452Familial candidiasis (nama medis internasional)Familial candidiasis Panduan 453Sindrom Wolff–Parkinson–WhiteWolff-Parkinson-White syndrome Panduan 454Congenital dyserythropoietic anemia (nama medis internasional)Congenital dyserythropoietic anemia Panduan 4559q22.3 microdeletion (nama medis internasional)9q22.3 microdeletion Panduan 456Gangguan afektif musimanSeasonal affective disorder Panduan 457Lattice corneal dystrophy type II (nama medis internasional)Lattice corneal dystrophy type II Panduan 458Genetic epilepsy with febrile seizures plus (nama medis internasional)Genetic epilepsy with febrile seizures plus Panduan 459MastositosisSystemic mastocytosis Panduan 460Multiple pterygium syndrome (nama medis internasional)Multiple pterygium syndrome Panduan 461Danon disease (nama medis internasional)Danon disease Panduan 462Isolated sulfite oxidase deficiency (nama medis internasional)Isolated sulfite oxidase deficiency Panduan 463Opitz G/BBB syndrome (nama medis internasional)Opitz G/BBB syndrome Panduan 464Fanconi anemia (nama medis internasional)Fanconi anemia Panduan 465DICER1 syndrome (nama medis internasional)DICER1 syndrome Panduan 466Peters plus syndrome (nama medis internasional)Peters plus syndrome Panduan 467Poland syndrome (nama medis internasional)Poland syndrome Panduan 468Primary sclerosing cholangitis (nama medis internasional)Primary sclerosing cholangitis Panduan 469Hyaline fibromatosis syndrome (nama medis internasional)Hyaline fibromatosis syndrome Panduan 470Mainzer-Saldino syndrome (nama medis internasional)Mainzer-Saldino syndrome Panduan 471Progressive familial heart block (nama medis internasional)Progressive familial heart block Panduan 472Apert syndrome (nama medis internasional)Apert syndrome Panduan 473Nijmegen breakage syndrome (nama medis internasional)Nijmegen breakage syndrome Panduan 474African iron overload (nama medis internasional)African iron overload Panduan 475Cleidocranial dysplasia (nama medis internasional)Cleidocranial dysplasia Panduan 476Epidermal nevus (nama medis internasional)Epidermal nevus Panduan 477Facioscapulohumeral muscular dystrophy (nama medis internasional)Facioscapulohumeral muscular dystrophy Panduan 478Kaufman oculocerebrofacial syndrome (nama medis internasional)Kaufman oculocerebrofacial syndrome Panduan 479Sindrom NethertonNetherton syndrome Panduan 480Joubert syndrome (nama medis internasional)Joubert syndrome Panduan 481Megalencephalic leukoencephalopathy with subcortical cysts (nama medis internasional)Megalencephalic leukoencephalopathy with subcortical cysts Panduan 482Hartsfield syndrome (nama medis internasional)Hartsfield syndrome Panduan 483Alpha-N-acetylgalactosaminidase deficiency (nama medis internasional)Alpha-N-acetylgalactosaminidase deficiency Panduan 484Cerebrotendinous xanthomatosis (nama medis internasional)Cerebrotendinous xanthomatosis Panduan 485Campomelic dysplasia (nama medis internasional)Campomelic dysplasia Panduan 486Cytochrome P450 oxidoreductase deficiency (nama medis internasional)Cytochrome P450 oxidoreductase deficiency Panduan 487Mycosis fungoides (nama medis internasional)Mycosis fungoides Panduan 488Fraser syndrome (nama medis internasional)Fraser syndrome Panduan 489Branchio-oculo-facial syndrome (nama medis internasional)Branchio-oculo-facial syndrome Panduan 490Congenital central hypoventilation syndrome (nama medis internasional)Congenital central hypoventilation syndrome Panduan 491Megalencephaly-capillary malformation syndrome (nama medis internasional)Megalencephaly-capillary malformation syndrome Panduan 492Junctional epidermolysis bullosaJunctional epidermolysis bullosa Panduan 493Niemann-Pick disease (nama medis internasional)Niemann-Pick disease Panduan 494SistinosisCystinosis Panduan 495Triple A syndrome (nama medis internasional)Triple A syndrome Panduan 496Stickler syndrome (nama medis internasional)Stickler syndrome Panduan 497Mabry syndrome (nama medis internasional)Mabry syndrome Panduan 498BAP1 tumor predisposition syndrome (nama medis internasional)BAP1 tumor predisposition syndrome Panduan 499PMM2-congenital disorder of glycosylation (nama medis internasional)PMM2-congenital disorder of glycosylation Panduan 500Timothy syndrome (nama medis internasional)Timothy syndrome Panduan 501Teleangiektasia hemoragik herediterHereditary hemorrhagic telangiectasia Panduan 502Esophageal atresia/tracheoesophageal fistula (nama medis internasional)Esophageal atresia/tracheoesophageal fistula Panduan 503Familial lipoprotein lipase deficiency (nama medis internasional)Familial lipoprotein lipase deficiency Panduan 504Lateral meningocele syndrome (nama medis internasional)Lateral meningocele syndrome Panduan 505Cardiofaciocutaneous syndrome (nama medis internasional)Cardiofaciocutaneous syndrome Panduan 506Pelizaeus-Merzbacher disease (nama medis internasional)Pelizaeus-Merzbacher disease Panduan 507WAGR syndrome (nama medis internasional)WAGR syndrome Panduan 508Mucopolysaccharidosis type VI (nama medis internasional)Mucopolysaccharidosis type VI Panduan 509L1 syndrome (nama medis internasional)L1 syndrome Panduan 510Mosaic variegated aneuploidy syndrome (nama medis internasional)Mosaic variegated aneuploidy syndrome Panduan 511Distal 18q deletion syndrome (nama medis internasional)Distal 18q deletion syndrome Panduan 512Critical congenital heart disease (nama medis internasional)Critical congenital heart disease Panduan 5137q11.23 duplication syndrome (nama medis internasional)7q11.23 duplication syndrome Panduan 514Anhidrotic ectodermal dysplasia with immune deficiency (nama medis internasional)Anhidrotic ectodermal dysplasia with immune deficiency Panduan 515Jacobsen syndrome (nama medis internasional)Jacobsen syndrome Panduan 516Demensia dengan badan LewyDementia with Lewy bodies Panduan 517Multiple sulfatase deficiency (nama medis internasional)Multiple sulfatase deficiency Panduan 518Multiple endocrine neoplasia (nama medis internasional)Multiple endocrine neoplasia Panduan 519Cerebro-facio-thoracic dysplasia (nama medis internasional)Cerebro-facio-thoracic dysplasia Panduan 520Caffey disease (nama medis internasional)Caffey disease Panduan 521IMAGe syndrome (nama medis internasional)IMAGe syndrome Panduan 522Dilated cardiomyopathy with ataxia syndrome (nama medis internasional)Dilated cardiomyopathy with ataxia syndrome Panduan 523AkondroplasiaAchondroplasia Panduan 524KolobomaColoboma Panduan 525Mucolipidosis type IV (nama medis internasional)Mucolipidosis type IV Panduan 5261q21.1 microdeletion (nama medis internasional)1q21.1 microdeletion Panduan 527Constitutional mismatch repair deficiency syndrome (nama medis internasional)Constitutional mismatch repair deficiency syndrome Panduan 528Pseudohypoaldosteronism type 1 (nama medis internasional)Pseudohypoaldosteronism type 1 Panduan 529SpastisitasInfantile-onset ascending hereditary spastic paralysis Panduan 530Duchenne and Becker muscular dystrophy (nama medis internasional)Duchenne and Becker muscular dystrophy Panduan 531MYH9-related disorder (nama medis internasional)MYH9-related disorder Panduan 532Glycogen storage disease type VII (nama medis internasional)Glycogen storage disease type VII Panduan 5333-M syndrome (nama medis internasional)3-M syndrome Panduan 534Nonsyndromic hearing loss (nama medis internasional)Nonsyndromic hearing loss Panduan 535X-linked lymphoproliferative disease (nama medis internasional)X-linked lymphoproliferative disease Panduan 5361q21.1 microduplication (nama medis internasional)1q21.1 microduplication Panduan 537Phosphoglycerate dehydrogenase deficiency (nama medis internasional)Phosphoglycerate dehydrogenase deficiency Panduan 538Triosephosphate isomerase deficiency (nama medis internasional)Triosephosphate isomerase deficiency Panduan 539Boucher-Neuhäuser syndrome (nama medis internasional)Boucher-Neuhäuser syndrome Panduan 540CHOPS syndrome (nama medis internasional)CHOPS syndrome Panduan 541Snijders Blok-Campeau syndrome (nama medis internasional)Snijders Blok-Campeau syndrome Panduan 542Andermann syndrome (nama medis internasional)Andermann syndrome Panduan 543Penyakit HirschsprungHirschsprung disease Panduan 544CLPB deficiency (nama medis internasional)CLPB deficiency Panduan 545Saul-Wilson syndrome (nama medis internasional)Saul-Wilson syndrome Panduan 546Autosomal dominant sleep-related hypermotor epilepsy (nama medis internasional)Autosomal dominant sleep-related hypermotor epilepsy Panduan 5473-beta-hydroxysteroid dehydrogenase deficiency (nama medis internasional)3-beta-hydroxysteroid dehydrogenase deficiency Panduan 548Sitosterolemia (nama medis internasional)Sitosterolemia Panduan 549Sindrom Riley-DayFamilial dysautonomia Panduan 550Tyrosinemia (nama medis internasional)Tyrosinemia Panduan 551Stevens-Johnson syndrome/toxic epidermal necrolysis (nama medis internasional)Stevens-Johnson syndrome/toxic epidermal necrolysis Panduan 552Cold-induced sweating syndrome (nama medis internasional)Cold-induced sweating syndrome Panduan 553Geleophysic dysplasia (nama medis internasional)Geleophysic dysplasia Panduan 55448,XXXY syndrome (nama medis internasional)48,XXXY syndrome Panduan 555Wiedemann-Rautenstrauch syndrome (nama medis internasional)Wiedemann-Rautenstrauch syndrome Panduan 556Mucopolysaccharidosis type VII (nama medis internasional)Mucopolysaccharidosis type VII Panduan 557X-linked chondrodysplasia punctata 2 (nama medis internasional)X-linked chondrodysplasia punctata 2 Panduan 558Fukuyama congenital muscular dystrophy (nama medis internasional)Fukuyama congenital muscular dystrophy Panduan 559Kardiomiopati hipertrofiFamilial hypertrophic cardiomyopathy Panduan 560Gastrointestinal stromal tumor (nama medis internasional)Gastrointestinal stromal tumor Panduan 561Progressive external ophthalmoplegia (nama medis internasional)Progressive external ophthalmoplegia Panduan 562CLN8 disease (nama medis internasional)CLN8 disease Panduan 563Penyakit GaucherGaucher disease Panduan 564PACS1 syndrome (nama medis internasional)PACS1 syndrome Panduan 565SOST-related sclerosing bone dysplasia (nama medis internasional)SOST-related sclerosing bone dysplasia Panduan 566Moebius syndrome (nama medis internasional)Moebius syndrome Panduan 567STAC3 disorder (nama medis internasional)STAC3 disorder Panduan 568LAMA2-related muscular dystrophy (nama medis internasional)LAMA2-related muscular dystrophy Panduan 569Mitochondrial complex I deficiency (nama medis internasional)Mitochondrial complex I deficiency Panduan 570Familial paroxysmal kinesigenic dyskinesia (nama medis internasional)Familial paroxysmal kinesigenic dyskinesia Panduan 571Hereditary neuropathy with liability to pressure palsies (nama medis internasional)Hereditary neuropathy with liability to pressure palsies Panduan 572Gangguan SkizoafektifSchizoaffective disorder Panduan 573Trichorhinophalangeal syndrome type II (nama medis internasional)Trichorhinophalangeal syndrome type II Panduan 574Cantú syndrome (nama medis internasional)Cantú syndrome Panduan 575Spastic paraplegia type 15 (nama medis internasional)Spastic paraplegia type 15 Panduan 576HipermetropiFarsightedness Panduan 577Riboflavin transporter deficiency neuronopathy (nama medis internasional)Riboflavin transporter deficiency neuronopathy Panduan 578Congenital hypothyroidism (nama medis internasional)Congenital hypothyroidism Panduan 579Von Hippel-Lindau syndrome (nama medis internasional)Von Hippel-Lindau syndrome Panduan 580Leukoencephalopathy with thalamus and brainstem involvement and high lactate (nama medis internasional)Leukoencephalopathy with thalamus and brainstem involvement and high lactate Panduan 581Autosomal dominant hypocalcemia (nama medis internasional)Autosomal dominant hypocalcemia Panduan 582Congenital fibrosis of the extraocular muscles (nama medis internasional)Congenital fibrosis of the extraocular muscles Panduan 583Pelizaeus-Merzbacher-like disease type 1 (nama medis internasional)Pelizaeus-Merzbacher-like disease type 1 Panduan 584Wolf-Hirschhorn syndrome (nama medis internasional)Wolf-Hirschhorn syndrome Panduan 585Rabson-Mendenhall syndrome (nama medis internasional)Rabson-Mendenhall syndrome Panduan 586Congenital fiber-type disproportion (nama medis internasional)Congenital fiber-type disproportion Panduan 587DOCK8 immunodeficiency syndrome (nama medis internasional)DOCK8 immunodeficiency syndrome Panduan 588Chediak-Higashi syndrome (nama medis internasional)Chediak-Higashi syndrome Panduan 589Klippel-Trenaunay syndrome (nama medis internasional)Klippel-Trenaunay syndrome Panduan 590Kindler epidermolysis bullosa (nama medis internasional)Kindler epidermolysis bullosa Panduan 591Darier disease (nama medis internasional)Darier disease Panduan 592PGM3-congenital disorder of glycosylation (nama medis internasional)PGM3-congenital disorder of glycosylation Panduan 593Leukoencephalopathy with vanishing white matter (nama medis internasional)Leukoencephalopathy with vanishing white matter Panduan 594Dent disease (nama medis internasional)Dent disease Panduan 595Pachyonychia congenita (nama medis internasional)Pachyonychia congenita Panduan 596Thrombotic thrombocytopenic purpura (nama medis internasional)Thrombotic thrombocytopenic purpura Panduan 597Schimke immuno-osseous dysplasia (nama medis internasional)Schimke immuno-osseous dysplasia Panduan 598Nonketotic hyperglycinemia (nama medis internasional)Nonketotic hyperglycinemia Panduan 599Fatty acid hydroxylase-associated neurodegeneration (nama medis internasional)Fatty acid hydroxylase-associated neurodegeneration Panduan 600Limb-girdle muscular dystrophy (nama medis internasional)Limb-girdle muscular dystrophy Panduan 601Nonsyndromic paraganglioma (nama medis internasional)Nonsyndromic paraganglioma Panduan 602McLeod neuroacanthocytosis syndrome (nama medis internasional)McLeod neuroacanthocytosis syndrome Panduan 603Epilepsy of infancy with migrating focal seizures (nama medis internasional)Epilepsy of infancy with migrating focal seizures Panduan 604Alkaptonuria (nama medis internasional)Alkaptonuria Panduan 605McKusick-Kaufman syndrome (nama medis internasional)McKusick-Kaufman syndrome Panduan 606Oculodentodigital dysplasia (nama medis internasional)Oculodentodigital dysplasia Panduan 607Desmoid tumor (nama medis internasional)Desmoid tumor Panduan 608Hereditary sensory and autonomic neuropathy type II (nama medis internasional)Hereditary sensory and autonomic neuropathy type II Panduan 609Atypical hemolytic-uremic syndrome (nama medis internasional)Atypical hemolytic-uremic syndrome Panduan 610Dowling-Degos disease (nama medis internasional)Dowling-Degos disease Panduan 611X-linked myotubular myopathy (nama medis internasional)X-linked myotubular myopathy Panduan 612Coats plus syndrome (nama medis internasional)Coats plus syndrome Panduan 613Gorlin syndrome (nama medis internasional)Gorlin syndrome Panduan 614Sjögren-Larsson syndrome (nama medis internasional)Sjögren-Larsson syndrome Panduan 615Galactosialidosis (nama medis internasional)Galactosialidosis Panduan 616Myotonic dystrophy (nama medis internasional)Myotonic dystrophy Panduan 617Free sialic acid storage disorder (nama medis internasional)Free sialic acid storage disorder Panduan 618Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (nama medis internasional)Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis Panduan 619Schwartz-Jampel syndrome (nama medis internasional)Schwartz-Jampel syndrome Panduan 620Congenital anomalies of kidney and urinary tract (nama medis internasional)Congenital anomalies of kidney and urinary tract Panduan 621STXBP1 encephalopathy (nama medis internasional)STXBP1 encephalopathy Panduan 622DwarfismeMetatropic dysplasia Panduan 623Sindrom SwyerSwyer syndrome Panduan 624Opioid addiction (nama medis internasional)Opioid addiction Panduan 625Aicardi syndrome (nama medis internasional)Aicardi syndrome Panduan 626Glycogen storage disease type IX (nama medis internasional)Glycogen storage disease type IX Panduan 627Stüve-Wiedemann syndrome (nama medis internasional)Stüve-Wiedemann syndrome Panduan 628Spinal muscular atrophy with progressive myoclonic epilepsy (nama medis internasional)Spinal muscular atrophy with progressive myoclonic epilepsy Panduan 629Megacystis-microcolon-intestinal hypoperistalsis syndrome (nama medis internasional)Megacystis-microcolon-intestinal hypoperistalsis syndrome Panduan 630Sindrom GLUT1-DGLUT1 deficiency syndrome Panduan 631Autosomal dominant optic atrophy and cataract (nama medis internasional)Autosomal dominant optic atrophy and cataract Panduan 632Xia-Gibbs syndrome (nama medis internasional)Xia-Gibbs syndrome Panduan 63321-hydroxylase deficiency (nama medis internasional)21-hydroxylase deficiency Panduan 634NarkolepsiNarcolepsy Panduan 63510q26 deletion syndrome (nama medis internasional)10q26 deletion syndrome Panduan 636Holt-Oram syndrome (nama medis internasional)Holt-Oram syndrome Panduan 637Craniofacial microsomia (nama medis internasional)Craniofacial microsomia Panduan 638Malignant hyperthermia (nama medis internasional)Malignant hyperthermia Panduan 639Abetalipoproteinemia (nama medis internasional)Abetalipoproteinemia Panduan 640Mowat-Wilson syndrome (nama medis internasional)Mowat-Wilson syndrome Panduan 641Yuan-Harel-Lupski syndrome (nama medis internasional)Yuan-Harel-Lupski syndrome Panduan 642Frontotemporal dementia with parkinsonism-17 (nama medis internasional)Frontotemporal dementia with parkinsonism-17 Panduan 643Asosiasi VACTERLVACTERL association Panduan 644Spondyloenchondrodysplasia with immune dysregulation (nama medis internasional)Spondyloenchondrodysplasia with immune dysregulation Panduan 645Autosomal dominant leukodystrophy with autonomic disease (nama medis internasional)Autosomal dominant leukodystrophy with autonomic disease Panduan 646Congenital cataracts, facial dysmorphism, and neuropathy (nama medis internasional)Congenital cataracts, facial dysmorphism, and neuropathy Panduan 647Otopalatodigital syndrome type 2 (nama medis internasional)Otopalatodigital syndrome type 2 Panduan 648Sindrom ProteusProteus syndrome Panduan 649Thiopurine S-methyltransferase deficiency (nama medis internasional)Thiopurine S-methyltransferase deficiency Panduan 650Craniofrontonasal syndrome (nama medis internasional)Craniofrontonasal syndrome Panduan 651Fragile X-associated tremor/ataxia syndrome (nama medis internasional)Fragile X-associated tremor/ataxia syndrome Panduan 652CholangiocarcinomaCholangiocarcinoma Panduan 653Branchiootorenal/branchiootic syndrome (nama medis internasional)Branchiootorenal/branchiootic syndrome Panduan 654Mandibulofacial dysostosis with microcephaly (nama medis internasional)Mandibulofacial dysostosis with microcephaly Panduan 655Penyakit Tulang PagetPaget disease of bone Panduan 656Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (nama medis internasional)Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Panduan 657Sindrom limfoproliferatif autoimunAutoimmune lymphoproliferative syndrome Panduan 658Dihydrolipoamide dehydrogenase deficiency (nama medis internasional)Dihydrolipoamide dehydrogenase deficiency Panduan 659Idiopathic pulmonary fibrosis (nama medis internasional)Idiopathic pulmonary fibrosis Panduan 660Isolated growth hormone deficiency (nama medis internasional)Isolated growth hormone deficiency Panduan 661Chronic myeloid leukemia (nama medis internasional)Chronic myeloid leukemia Panduan 662Generalized arterial calcification of infancy (nama medis internasional)Generalized arterial calcification of infancy Panduan 663Neurofibromatosis type 1 (nama medis internasional)Neurofibromatosis type 1 Panduan 664Shprintzen-Goldberg syndrome (nama medis internasional)Shprintzen-Goldberg syndrome Panduan 665Alagille syndrome (nama medis internasional)Alagille syndrome Panduan 666MEGDEL syndrome (nama medis internasional)MEGDEL syndrome Panduan 667Alveolar capillary dysplasia with misalignment of pulmonary veins (nama medis internasional)Alveolar capillary dysplasia with misalignment of pulmonary veins Panduan 668CUL3-related neurodevelopmental disorder (nama medis internasional)CUL3-related neurodevelopmental disorder Panduan 669Idiopathic infantile hypercalcemia (nama medis internasional)Idiopathic infantile hypercalcemia Panduan 670RAPADILINO syndrome (nama medis internasional)RAPADILINO syndrome Panduan 671Biotin-thiamine-responsive basal ganglia disease (nama medis internasional)Biotin-thiamine-responsive basal ganglia disease Panduan 672Spondylocostal dysostosis (nama medis internasional)Spondylocostal dysostosis Panduan 67316p11.2 duplication (nama medis internasional)16p11.2 duplication Panduan 674Polymicrogyria (nama medis internasional)Polymicrogyria Panduan 675Mucopolysaccharidosis type IV (nama medis internasional)Mucopolysaccharidosis type IV Panduan 676Rhizomelic chondrodysplasia punctata (nama medis internasional)Rhizomelic chondrodysplasia punctata Panduan 677CLN1 disease (nama medis internasional)CLN1 disease Panduan 678Alpha thalassemia X-linked intellectual disability syndrome (nama medis internasional)Alpha thalassemia X-linked intellectual disability syndrome Panduan 679Peters anomaly (nama medis internasional)Peters anomaly Panduan 680Common variable immune deficiency (nama medis internasional)Common variable immune deficiency Panduan 681Frontonasal dysplasia (nama medis internasional)Frontonasal dysplasia Panduan 682Hereditary diffuse gastric cancer (nama medis internasional)Hereditary diffuse gastric cancer Panduan 683Spastic paraplegia type 11 (nama medis internasional)Spastic paraplegia type 11 Panduan 684Crouzon syndrome with acanthosis nigricans (nama medis internasional)Crouzon syndrome with acanthosis nigricans Panduan 685Acute necrotizing encephalopathy type 1 (nama medis internasional)Acute necrotizing encephalopathy type 1 Panduan 686Congenital hepatic fibrosis (nama medis internasional)Congenital hepatic fibrosis Panduan 687Bardet-Biedl syndrome (nama medis internasional)Bardet-Biedl syndrome Panduan 688Autoimmune Addison disease (nama medis internasional)Autoimmune Addison disease Panduan 689Autosomal dominant hyper-IgE syndrome (nama medis internasional)Autosomal dominant hyper-IgE syndrome Panduan 690Adenosine deaminase deficiency (nama medis internasional)Adenosine deaminase deficiency Panduan 691STING-associated vasculopathy with onset in infancy (nama medis internasional)STING-associated vasculopathy with onset in infancy Panduan 692Smith-Magenis syndrome (nama medis internasional)Smith-Magenis syndrome Panduan 693Congenital plasminogen deficiency (nama medis internasional)Congenital plasminogen deficiency Panduan 694Type A insulin resistance syndrome (nama medis internasional)Type A insulin resistance syndrome Panduan 695Spastic paraplegia type 2 (nama medis internasional)Spastic paraplegia type 2 Panduan 696Penyakit Forbes-CoriGlycogen storage disease type III Panduan 697DLG4-related synaptopathy (nama medis internasional)DLG4-related synaptopathy Panduan 698Au-Kline syndrome (nama medis internasional)Au-Kline syndrome Panduan 699Rothmund-Thomson syndrome (nama medis internasional)Rothmund-Thomson syndrome Panduan 700SATB2-associated syndrome (nama medis internasional)SATB2-associated syndrome Panduan 701Pulmonary veno-occlusive disease (nama medis internasional)Pulmonary veno-occlusive disease Panduan 702Simpson-Golabi-Behmel syndrome (nama medis internasional)Simpson-Golabi-Behmel syndrome Panduan 703Jansen-de Vries syndrome (nama medis internasional)Jansen-de Vries syndrome Panduan 704Hypophosphatasia (nama medis internasional)Hypophosphatasia Panduan 705Isolated lissencephaly sequence (nama medis internasional)Isolated lissencephaly sequence Panduan 706Infantile neuroaxonal dystrophy (nama medis internasional)Infantile neuroaxonal dystrophy Panduan 707Renal tubular acidosis with deafness (nama medis internasional)Renal tubular acidosis with deafness Panduan 708Hyperparathyroidism-jaw tumor syndrome (nama medis internasional)Hyperparathyroidism-jaw tumor syndrome Panduan 709Galactosemia (nama medis internasional)Galactosemia Panduan 710Microcephalic osteodysplastic primordial dwarfism type II (nama medis internasional)Microcephalic osteodysplastic primordial dwarfism type II Panduan 711Sindrom Wiskott–AldrichWiskott-Aldrich syndrome Panduan 712Asma (Allergic asthma)Allergic asthma Panduan 713Rapid-onset dystonia parkinsonism (nama medis internasional)Rapid-onset dystonia parkinsonism Panduan 714Hiperkolesterolemia familiaFamilial hypercholesterolemia Panduan 715Aromatase deficiency (nama medis internasional)Aromatase deficiency Panduan 716Chronic atrial and intestinal dysrhythmia (nama medis internasional)Chronic atrial and intestinal dysrhythmia Panduan 717MED13L syndrome (nama medis internasional)MED13L syndrome Panduan 718Purine nucleoside phosphorylase deficiency (nama medis internasional)Purine nucleoside phosphorylase deficiency Panduan 719Alpha-mannosidosis (nama medis internasional)Alpha-mannosidosis Panduan 720Glycogen storage disease type 0 (nama medis internasional)Glycogen storage disease type 0 Panduan 721Nemaline myopathy (nama medis internasional)Nemaline myopathy Panduan 722COL4A1-related brain small-vessel disease (nama medis internasional)COL4A1-related brain small-vessel disease Panduan 723Dihydropyrimidine dehydrogenase deficiency (nama medis internasional)Dihydropyrimidine dehydrogenase deficiency Panduan 724Maffucci syndrome (nama medis internasional)Maffucci syndrome Panduan 725Potocki-Lupski syndrome (nama medis internasional)Potocki-Lupski syndrome Panduan 726Sotos syndrome (nama medis internasional)Sotos syndrome Panduan 727Sindrom kaki gelisahRestless legs syndrome Panduan 728Baller-Gerold syndrome (nama medis internasional)Baller-Gerold syndrome Panduan 729Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay (nama medis internasional)Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay Panduan 730X-linked hypophosphatemia (nama medis internasional)X-linked hypophosphatemia Panduan 731UNC80 deficiency (nama medis internasional)UNC80 deficiency Panduan 732Roberts syndrome (nama medis internasional)Roberts syndrome Panduan 733Tetrasomy 18p (nama medis internasional)Tetrasomy 18p Panduan 734Camurati-Engelmann disease (nama medis internasional)Camurati-Engelmann disease Panduan 735Spastic paraplegia type 7 (nama medis internasional)Spastic paraplegia type 7 Panduan 736MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (nama medis internasional)MPV17-related hepatocerebral mitochondrial DNA depletion syndrome Panduan 737Thrombocytopenia-absent radius syndrome (nama medis internasional)Thrombocytopenia-absent radius syndrome Panduan 738Gyrate atrophy of the choroid and retina (nama medis internasional)Gyrate atrophy of the choroid and retina Panduan 739RNAse T2-deficient leukoencephalopathy (nama medis internasional)RNAse T2-deficient leukoencephalopathy Panduan 740Giant axonal neuropathy (nama medis internasional)Giant axonal neuropathy Panduan 741Progressive familial intrahepatic cholestasis (nama medis internasional)Progressive familial intrahepatic cholestasis Panduan 742Arginine vasopressin resistance (nama medis internasional)Arginine vasopressin resistance Panduan 743Spinocerebellar ataxia type 36 (nama medis internasional)Spinocerebellar ataxia type 36 Panduan 744Achondrogenesis (nama medis internasional)Achondrogenesis Panduan 745ALG1-congenital disorder of glycosylation (nama medis internasional)ALG1-congenital disorder of glycosylation Panduan 746Chorea-acanthocytosis (nama medis internasional)Chorea-acanthocytosis Panduan 747Capillary malformation-arteriovenous malformation syndrome (nama medis internasional)Capillary malformation-arteriovenous malformation syndrome Panduan 748Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (nama medis internasional)Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Panduan 749Cranioectodermal dysplasia (nama medis internasional)Cranioectodermal dysplasia Panduan 750Rigid spine muscular dystrophy (nama medis internasional)Rigid spine muscular dystrophy Panduan 751Spinal muscular atrophy with respiratory distress type 1 (nama medis internasional)Spinal muscular atrophy with respiratory distress type 1 Panduan 752CLN3 disease (nama medis internasional)CLN3 disease Panduan 753Hyperphosphatemic familial tumoral calcinosis (nama medis internasional)Hyperphosphatemic familial tumoral calcinosis Panduan 754Isovaleric acidemia (nama medis internasional)Isovaleric acidemia Panduan 755Dermatofibrosarcoma protuberans (nama medis internasional)Dermatofibrosarcoma protuberans Panduan 756Huntington's disease-like (nama medis internasional)Huntington's disease-like Panduan 757RakitisVitamin D-dependent rickets Panduan 758Incontinentia pigmenti (nama medis internasional)Incontinentia pigmenti Panduan 759X-linked cardiac valvular dysplasia (nama medis internasional)X-linked cardiac valvular dysplasia Panduan 760Axenfeld-Rieger syndrome (nama medis internasional)Axenfeld-Rieger syndrome Panduan 761Sézary syndrome (nama medis internasional)Sézary syndrome Panduan 762Hermansky-Pudlak syndrome (nama medis internasional)Hermansky-Pudlak syndrome Panduan 763Buschke-Ollendorff syndrome (nama medis internasional)Buschke-Ollendorff syndrome Panduan 764Bloom syndrome (nama medis internasional)Bloom syndrome Panduan 765Epidermolysis bullosa with pyloric atresia (nama medis internasional)Epidermolysis bullosa with pyloric atresia Panduan 766Keratoderma with woolly hair (nama medis internasional)Keratoderma with woolly hair Panduan 767Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (nama medis internasional)Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Panduan 768Familial acute myeloid leukemia with mutated CEBPA (nama medis internasional)Familial acute myeloid leukemia with mutated CEBPA Panduan 769FOXG1 syndrome (nama medis internasional)FOXG1 syndrome Panduan 770Congenital mirror movement disorder (nama medis internasional)Congenital mirror movement disorder Panduan 771Persistent Müllerian duct syndrome (nama medis internasional)Persistent Müllerian duct syndrome Panduan 772ADNP syndrome (nama medis internasional)ADNP syndrome Panduan 773Spondyloepiphyseal dysplasia with marked metaphyseal changes (nama medis internasional)Spondyloepiphyseal dysplasia with marked metaphyseal changes Panduan 774Manitoba oculotrichoanal syndrome (nama medis internasional)Manitoba oculotrichoanal syndrome Panduan 775Adenylosuccinate lyase deficiency (nama medis internasional)Adenylosuccinate lyase deficiency Panduan 776Rhabdoid tumor predisposition syndrome (nama medis internasional)Rhabdoid tumor predisposition syndrome Panduan 777Robinow syndrome (nama medis internasional)Robinow syndrome Panduan 778Troyer syndrome (nama medis internasional)Troyer syndrome Panduan 779Penyakit PompePompe disease Panduan 780Anophthalmia/Microphthalmia (nama medis internasional)Anophthalmia/Microphthalmia Panduan 781Gorlin-Chaudhry-Moss syndrome (nama medis internasional)Gorlin-Chaudhry-Moss syndrome Panduan 782Pendred syndrome (nama medis internasional)Pendred syndrome Panduan 783Von Willebrand diseaseVon Willebrand disease Panduan 784Fryns syndrome (nama medis internasional)Fryns syndrome Panduan 785Beta thalassemia (nama medis internasional)Beta thalassemia Panduan 786Walker-Warburg syndrome (nama medis internasional)Walker-Warburg syndrome Panduan 787FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome (nama medis internasional)FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome Panduan 78817q12 deletion syndrome (nama medis internasional)17q12 deletion syndrome Panduan 789Ataxia-telangiectasia (nama medis internasional)Ataxia-telangiectasia Panduan 790Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (nama medis internasional)Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart Panduan 791Sindrom BartterBartter syndrome Panduan 792Duane-radial ray syndrome (nama medis internasional)Duane-radial ray syndrome Panduan 793Lafora progressive myoclonus epilepsy (nama medis internasional)Lafora progressive myoclonus epilepsy Panduan 794Hereditary folate malabsorption (nama medis internasional)Hereditary folate malabsorption Panduan 795Beckwith-Wiedemann syndrome (nama medis internasional)Beckwith-Wiedemann syndrome Panduan 796Kallmann syndrome (nama medis internasional)Kallmann syndrome Panduan 797Donohue syndrome (nama medis internasional)Donohue syndrome Panduan 798Thiamine-responsive megaloblastic anemia syndrome (nama medis internasional)Thiamine-responsive megaloblastic anemia syndrome Panduan 799Benign familial neonatal seizures (nama medis internasional)Benign familial neonatal seizures Panduan 800CHD2 myoclonic encephalopathy (nama medis internasional)CHD2 myoclonic encephalopathy Panduan 801Aceruloplasminemia (nama medis internasional)Aceruloplasminemia Panduan 802NeuroblastomaNeuroblastoma Panduan 803Action myoclonus–renal failure syndrome (nama medis internasional)Action myoclonus–renal failure syndrome Panduan 804Distal hereditary motor neuropathy, type V (nama medis internasional)Distal hereditary motor neuropathy, type V Panduan 805Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (nama medis internasional)Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Panduan 806Leber congenital amaurosis (nama medis internasional)Leber congenital amaurosis Panduan 807Kearns-Sayre syndrome (nama medis internasional)Kearns-Sayre syndrome Panduan 808Tetra-amelia syndrome (nama medis internasional)Tetra-amelia syndrome Panduan 809X-linked hyper IgM syndrome (nama medis internasional)X-linked hyper IgM syndrome Panduan 810Nakajo-Nishimura syndrome (nama medis internasional)Nakajo-Nishimura syndrome Panduan 811PDGFRA-associated chronic eosinophilic leukemia (nama medis internasional)PDGFRA-associated chronic eosinophilic leukemia Panduan 812Sick sinus syndrome (nama medis internasional)Sick sinus syndrome Panduan 813Familial restrictive cardiomyopathy (nama medis internasional)Familial restrictive cardiomyopathy Panduan 814D-bifunctional protein deficiency (nama medis internasional)D-bifunctional protein deficiency Panduan 815Kolestasis kehamilanIntrahepatic cholestasis of pregnancy Panduan 816Yao syndrome (nama medis internasional)Yao syndrome Panduan 817Alpers-Huttenlocher syndrome (nama medis internasional)Alpers-Huttenlocher syndrome Panduan 818Erdheim-Chester disease (nama medis internasional)Erdheim-Chester disease Panduan 819Familial hyperaldosteronism (nama medis internasional)Familial hyperaldosteronism Panduan 82015q13.3 microdeletion (nama medis internasional)15q13.3 microdeletion Panduan 821Lymphangioleiomyomatosis (nama medis internasional)Lymphangioleiomyomatosis Panduan 822Andersen-Tawil syndrome (nama medis internasional)Andersen-Tawil syndrome Panduan 823Floating-Harbor syndrome (nama medis internasional)Floating-Harbor syndrome Panduan 824Isolated ectopia lentis (nama medis internasional)Isolated ectopia lentis Panduan 825MBD5-associated neurodevelopmental disorder (nama medis internasional)MBD5-associated neurodevelopmental disorder Panduan 826Dihydropyrimidinase deficiency (nama medis internasional)Dihydropyrimidinase deficiency Panduan 827Laryngo-onycho-cutaneous syndrome (nama medis internasional)Laryngo-onycho-cutaneous syndrome Panduan 828Snyder-Robinson syndrome (nama medis internasional)Snyder-Robinson syndrome Panduan 8293-methylglutaconyl-CoA hydratase deficiency (nama medis internasional)3-methylglutaconyl-CoA hydratase deficiency Panduan 830Primary localized cutaneous amyloidosis (nama medis internasional)Primary localized cutaneous amyloidosis Panduan 831Retroperitoneal fibrosis (nama medis internasional)Retroperitoneal fibrosis Panduan 832Activated PI3K-delta syndrome (nama medis internasional)Activated PI3K-delta syndrome Panduan 833Very long-chain acyl-CoA dehydrogenase deficiency (nama medis internasional)Very long-chain acyl-CoA dehydrogenase deficiency Panduan 834Hereditary leiomyomatosis and renal cell cancer (nama medis internasional)Hereditary leiomyomatosis and renal cell cancer Panduan 835Androgen insensitivity syndrome (nama medis internasional)Androgen insensitivity syndrome Panduan 836Pyridoxal phosphate-responsive seizures (nama medis internasional)Pyridoxal phosphate-responsive seizures Panduan 837Tay-Sachs disease (nama medis internasional)Tay-Sachs disease Panduan 838GRN-related frontotemporal lobar degeneration (nama medis internasional)GRN-related frontotemporal lobar degeneration Panduan 839Blepharocheilodontic syndrome (nama medis internasional)Blepharocheilodontic syndrome Panduan 840CLN10 disease (nama medis internasional)CLN10 disease Panduan 841Autosomal recessive congenital methemoglobinemia (nama medis internasional)Autosomal recessive congenital methemoglobinemia Panduan 842Gnathodiaphyseal dysplasia (nama medis internasional)Gnathodiaphyseal dysplasia Panduan 843RetinoblastomaRetinoblastoma Panduan 844Distal hereditary motor neuropathy, type II (nama medis internasional)Distal hereditary motor neuropathy, type II Panduan 845Dopa-responsive dystonia (nama medis internasional)Dopa-responsive dystonia Panduan 8463q29 microdeletion syndrome (nama medis internasional)3q29 microdeletion syndrome Panduan 847Imerslund-Gräsbeck syndrome (nama medis internasional)Imerslund-Gräsbeck syndrome Panduan 848Deafness-dystonia-optic neuronopathy syndrome (nama medis internasional)Deafness-dystonia-optic neuronopathy syndrome Panduan 849Glutaric acidemia type I (nama medis internasional)Glutaric acidemia type I Panduan 850Centronuclear myopathy (nama medis internasional)Centronuclear myopathy Panduan 8512-hydroxyglutaric aciduria (nama medis internasional)2-hydroxyglutaric aciduria Panduan 852ADCY5-related dyskinesia (nama medis internasional)ADCY5-related dyskinesia Panduan 853Ankyrin-B syndrome (nama medis internasional)Ankyrin-B syndrome Panduan 854Familial hemophagocytic lymphohistiocytosis (nama medis internasional)Familial hemophagocytic lymphohistiocytosis Panduan 855Trichohepatoenteric syndrome (nama medis internasional)Trichohepatoenteric syndrome Panduan 856Nail-patella syndrome (nama medis internasional)Nail-patella syndrome Panduan 857Auriculocondylar syndrome (nama medis internasional)Auriculocondylar syndrome Panduan 858X-linked spondyloepiphyseal dysplasia tarda (nama medis internasional)X-linked spondyloepiphyseal dysplasia tarda Panduan 859Oculopharyngeal muscular dystrophy (nama medis internasional)Oculopharyngeal muscular dystrophy Panduan 860Pyruvate carboxylase deficiency (nama medis internasional)Pyruvate carboxylase deficiency Panduan 861Gillespie syndrome (nama medis internasional)Gillespie syndrome Panduan 862Melorheostosis (nama medis internasional)Melorheostosis Panduan 863Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (nama medis internasional)Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis Panduan 864Core binding factor acute myeloid leukemia (nama medis internasional)Core binding factor acute myeloid leukemia Panduan 865Cytochrome c oxidase deficiency (nama medis internasional)Cytochrome c oxidase deficiency Panduan 866Dystonia 16 (nama medis internasional)Dystonia 16 Panduan 867Penyakit McArdleGlycogen storage disease type V Panduan 868KBG syndrome (nama medis internasional)KBG syndrome Panduan 869Mandibuloacral dysplasia (nama medis internasional)Mandibuloacral dysplasia Panduan 870Bosma arhinia microphthalmia syndrome (nama medis internasional)Bosma arhinia microphthalmia syndrome Panduan 871Larsen syndrome (nama medis internasional)Larsen syndrome Panduan 872Alternating hemiplegia of childhood (nama medis internasional)Alternating hemiplegia of childhood Panduan 873Retinitis pigmentosa (nama medis internasional)Retinitis pigmentosa Panduan 874C3 glomerulopathy (nama medis internasional)C3 glomerulopathy Panduan 875Familial encephalopathy with neuroserpin inclusion bodies (nama medis internasional)Familial encephalopathy with neuroserpin inclusion bodies Panduan 876Sindrom Aarskog-ScottAarskog-Scott syndrome Panduan 877Primary hyperoxaluria (nama medis internasional)Primary hyperoxaluria Panduan 878Hereditary spherocytosis (nama medis internasional)Hereditary spherocytosis Panduan 879GM3 synthase deficiency (nama medis internasional)GM3 synthase deficiency Panduan 880HIVEP2-related intellectual disability (nama medis internasional)HIVEP2-related intellectual disability Panduan 881Isolated Pierre Robin sequence (nama medis internasional)Isolated Pierre Robin sequence Panduan 882Intestinal pseudo-obstruction (nama medis internasional)Intestinal pseudo-obstruction Panduan 883Multiple familial trichoepithelioma (nama medis internasional)Multiple familial trichoepithelioma Panduan 884Nephronophthisis (nama medis internasional)Nephronophthisis Panduan 885Carnitine palmitoyltransferase I deficiency (nama medis internasional)Carnitine palmitoyltransferase I deficiency Panduan 886Congenital insensitivity to pain with anhidrosis (nama medis internasional)Congenital insensitivity to pain with anhidrosis Panduan 887Sindrom okuloserebrorenalLowe syndrome Panduan 888Burn-McKeown syndrome (nama medis internasional)Burn-McKeown syndrome Panduan 889Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (nama medis internasional)Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Panduan 890Otopalatodigital syndrome type 1 (nama medis internasional)Otopalatodigital syndrome type 1 Panduan 891Aniridia (nama medis internasional)Aniridia Panduan 892Kabuki syndrome (nama medis internasional)Kabuki syndrome Panduan 893Congenital diaphragmatic hernia (nama medis internasional)Congenital diaphragmatic hernia Panduan 894Sindrom PfeifferPfeiffer syndrome Panduan 895Acute promyelocytic leukemia (nama medis internasional)Acute promyelocytic leukemia Panduan 896Autosomal dominant epilepsy with auditory features (nama medis internasional)Autosomal dominant epilepsy with auditory features Panduan 897Adenine phosphoribosyltransferase deficiency (nama medis internasional)Adenine phosphoribosyltransferase deficiency Panduan 898Sporadic hemiplegic migraine (nama medis internasional)Sporadic hemiplegic migraine Panduan 899Microcephaly-capillary malformation syndrome (nama medis internasional)Microcephaly-capillary malformation syndrome Panduan 900Melnick-Needles syndrome (nama medis internasional)Melnick-Needles syndrome Panduan 901Prothrombin thrombophilia (nama medis internasional)Prothrombin thrombophilia Panduan 902SETBP1 haploinsufficiency disorder (nama medis internasional)SETBP1 haploinsufficiency disorder Panduan 903Sudden infant death with dysgenesis of the testes syndrome (nama medis internasional)Sudden infant death with dysgenesis of the testes syndrome Panduan 904Benign recurrent intrahepatic cholestasis (nama medis internasional)Benign recurrent intrahepatic cholestasis Panduan 905CLN11 disease (nama medis internasional)CLN11 disease Panduan 906GNE myopathy (nama medis internasional)GNE myopathy Panduan 907Saethre-Chotzen syndrome (nama medis internasional)Saethre-Chotzen syndrome Panduan 908Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (nama medis internasional)Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Panduan 909CLCN2-related leukoencephalopathy (nama medis internasional)CLCN2-related leukoencephalopathy Panduan 910Hyperlysinemia (nama medis internasional)Hyperlysinemia Panduan 911Ollier disease (nama medis internasional)Ollier disease Panduan 912Mucolipidosis II alpha/beta (nama medis internasional)Mucolipidosis II alpha/beta Panduan 913MiopatiMyofibrillar myopathy Panduan 914Leukocyte adhesion deficiency type 1 (nama medis internasional)Leukocyte adhesion deficiency type 1 Panduan 9152q37 deletion syndrome (nama medis internasional)2q37 deletion syndrome Panduan 916Anauxetic dysplasia (nama medis internasional)Anauxetic dysplasia Panduan 917Surfactant dysfunction (nama medis internasional)Surfactant dysfunction Panduan 918Juvenile Paget disease (nama medis internasional)Juvenile Paget disease Panduan 919PKANPantothenate kinase-associated neurodegeneration Panduan 920X-linked agammaglobulinemia (nama medis internasional)X-linked agammaglobulinemia Panduan 921Short/branched chain acyl-CoA dehydrogenase deficiency (nama medis internasional)Short/branched chain acyl-CoA dehydrogenase deficiency Panduan 922Donnai-Barrow syndrome (nama medis internasional)Donnai-Barrow syndrome Panduan 923Farber lipogranulomatosis (nama medis internasional)Farber lipogranulomatosis Panduan 92422q13.3 deletion syndrome (nama medis internasional)22q13.3 deletion syndrome Panduan 925Hereditary sensory neuropathy type IA (nama medis internasional)Hereditary sensory neuropathy type IA Panduan 926Familial paroxysmal nonkinesigenic dyskinesia (nama medis internasional)Familial paroxysmal nonkinesigenic dyskinesia Panduan 927VEXAS syndrome (nama medis internasional)VEXAS syndrome Panduan 928Crigler-Najjar syndrome (nama medis internasional)Crigler-Najjar syndrome Panduan 929Familial hemiplegic migraine (nama medis internasional)Familial hemiplegic migraine Panduan 930Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant (nama medis internasional)Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant Panduan 931Episodic ataxia (nama medis internasional)Episodic ataxia Panduan 932Factor V Leiden thrombophilia (nama medis internasional)Factor V Leiden thrombophilia Panduan 933Primary familial brain calcification (nama medis internasional)Primary familial brain calcification Panduan 934X-linked juvenile retinoschisis (nama medis internasional)X-linked juvenile retinoschisis Panduan 935X-linked sideroblastic anemia and ataxia (nama medis internasional)X-linked sideroblastic anemia and ataxia Panduan 936Frontometaphyseal dysplasia (nama medis internasional)Frontometaphyseal dysplasia Panduan 937Aspartylglucosaminuria (nama medis internasional)Aspartylglucosaminuria Panduan 938Nager syndrome (nama medis internasional)Nager syndrome Panduan 939Protein S deficiency (nama medis internasional)Protein S deficiency Panduan 940Adams-Oliver syndrome (nama medis internasional)Adams-Oliver syndrome Panduan 941Meier-Gorlin syndrome (nama medis internasional)Meier-Gorlin syndrome Panduan 9428p11 myeloproliferative syndrome (nama medis internasional)8p11 myeloproliferative syndrome Panduan 943Genitopatellar syndrome (nama medis internasional)Genitopatellar syndrome Panduan 944Mitochondrial neurogastrointestinal encephalopathy disease (nama medis internasional)Mitochondrial neurogastrointestinal encephalopathy disease Panduan 945Atelosteogenesis type 3 (nama medis internasional)Atelosteogenesis type 3 Panduan 946Hypomyelination with brainstem and spinal cord involvement and leg spasticity (nama medis internasional)Hypomyelination with brainstem and spinal cord involvement and leg spasticity Panduan 947Coffin-Siris syndrome (nama medis internasional)Coffin-Siris syndrome Panduan 948Baraitser-Winter syndrome (nama medis internasional)Baraitser-Winter syndrome Panduan 949Majeed syndrome (nama medis internasional)Majeed syndrome Panduan 950Trichorhinophalangeal syndrome type I (nama medis internasional)Trichorhinophalangeal syndrome type I Panduan 951Renal tubular dysgenesis (nama medis internasional)Renal tubular dysgenesis Panduan 952Cytogenetically normal acute myeloid leukemia (nama medis internasional)Cytogenetically normal acute myeloid leukemia Panduan 953Dopamine beta-hydroxylase deficiency (nama medis internasional)Dopamine beta-hydroxylase deficiency Panduan 954Progressive myoclonic epilepsy type 1 (nama medis internasional)Progressive myoclonic epilepsy type 1 Panduan 955Prolidase deficiency (nama medis internasional)Prolidase deficiency Panduan 956Dopamine transporter deficiency syndrome (nama medis internasional)Dopamine transporter deficiency syndrome Panduan 957Intervertebral disc disease (nama medis internasional)Intervertebral disc disease Panduan 958Leber hereditary optic neuropathy (nama medis internasional)Leber hereditary optic neuropathy Panduan 959Sandhoff disease (nama medis internasional)Sandhoff disease Panduan 960Carbonic anhydrase VA deficiency (nama medis internasional)Carbonic anhydrase VA deficiency Panduan 961LMNA-related congenital muscular dystrophy (nama medis internasional)LMNA-related congenital muscular dystrophy Panduan 962Subcortical band heterotopia (nama medis internasional)Subcortical band heterotopia Panduan 963FG syndrome (nama medis internasional)FG syndrome Panduan 964Familial focal epilepsy with variable foci (nama medis internasional)Familial focal epilepsy with variable foci Panduan 965Aromatic l-amino acid decarboxylase deficiency (nama medis internasional)Aromatic l-amino acid decarboxylase deficiency Panduan 966Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (nama medis internasional)Autosomal dominant cerebellar ataxia, deafness, and narcolepsy Panduan 967MiositisIdiopathic inflammatory myopathy Panduan 968Pseudocholinesterase deficiency (nama medis internasional)Pseudocholinesterase deficiency Panduan 969Warfarin resistance (nama medis internasional)Warfarin resistance Panduan 970RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (nama medis internasional)RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Panduan 971Knobloch syndrome (nama medis internasional)Knobloch syndrome Panduan 972Costeff syndrome (nama medis internasional)Costeff syndrome Panduan 973Asparagine synthetase deficiency (nama medis internasional)Asparagine synthetase deficiency Panduan 974Transcobalamin deficiency (nama medis internasional)Transcobalamin deficiency Panduan 975SLC35A2-congenital disorder of glycosylation (nama medis internasional)SLC35A2-congenital disorder of glycosylation Panduan 976CLN6 disease (nama medis internasional)CLN6 disease Panduan 977Spondylothoracic dysostosis (nama medis internasional)Spondylothoracic dysostosis Panduan 978Early-onset glaucoma (nama medis internasional)Early-onset glaucoma Panduan 979Laron syndrome (nama medis internasional)Laron syndrome Panduan 980GRIN2B-related neurodevelopmental disorder (nama medis internasional)GRIN2B-related neurodevelopmental disorder Panduan 981Hereditary sensory and autonomic neuropathy type IE (nama medis internasional)Hereditary sensory and autonomic neuropathy type IE Panduan 982Fibrochondrogenesis (nama medis internasional)Fibrochondrogenesis Panduan 983Griscelli syndrome (nama medis internasional)Griscelli syndrome Panduan 984Blepharophimosis, ptosis, and epicanthus inversus syndrome (nama medis internasional)Blepharophimosis, ptosis, and epicanthus inversus syndrome Panduan 985Sindrom CharChar syndrome Panduan 986Permanent neonatal diabetes mellitus (nama medis internasional)Permanent neonatal diabetes mellitus Panduan 987Schwannomatosis (nama medis internasional)Schwannomatosis Panduan 988Encephalocraniocutaneous lipomatosis (nama medis internasional)Encephalocraniocutaneous lipomatosis Panduan 989Autosomal recessive spastic ataxia of Charlevoix-Saguenay (nama medis internasional)Autosomal recessive spastic ataxia of Charlevoix-Saguenay Panduan 990CHMP2B-related frontotemporal dementia (nama medis internasional)CHMP2B-related frontotemporal dementia Panduan 991Channelopathy-associated congenital insensitivity to pain (nama medis internasional)Channelopathy-associated congenital insensitivity to pain Panduan 992Periventricular heterotopia (nama medis internasional)Periventricular heterotopia Panduan 993Oculofaciocardiodental syndrome (nama medis internasional)Oculofaciocardiodental syndrome Panduan 994Small fiber neuropathy (nama medis internasional)Small fiber neuropathy Panduan 995NefroblastomaWilms tumor Panduan 996Hypohidrotic ectodermal dysplasia (nama medis internasional)Hypohidrotic ectodermal dysplasia Panduan 997Infantile-onset spinocerebellar ataxia (nama medis internasional)Infantile-onset spinocerebellar ataxia Panduan 998PURA syndrome (nama medis internasional)PURA syndrome Panduan 999Penyakit HuntingtonHuntington's disease Panduan 1000Waardenburg syndrome (nama medis internasional)Waardenburg syndrome Panduan 1001Cap myopathy (nama medis internasional)Cap myopathy Panduan 1002Penyakit ginjal polikistikPolycystic kidney disease Panduan 1003Hereditary fructose intolerance (nama medis internasional)Hereditary fructose intolerance Panduan 1004Popliteal pterygium syndrome (nama medis internasional)Popliteal pterygium syndrome Panduan 1005SCN8A-related epilepsy with encephalopathy (nama medis internasional)SCN8A-related epilepsy with encephalopathy Panduan 1006Sindrom XYY47,XYY syndrome Panduan 1007Kniest dysplasia (nama medis internasional)Kniest dysplasia Panduan 1008Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (nama medis internasional)Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Panduan 1009Mitochondrial complex III deficiency (nama medis internasional)Mitochondrial complex III deficiency Panduan 1010Adenosine deaminase 2 deficiency (nama medis internasional)Adenosine deaminase 2 deficiency Panduan 1011Congenital bile acid synthesis defect type 1 (nama medis internasional)Congenital bile acid synthesis defect type 1 Panduan 1012Progressive pseudorheumatoid dysplasia (nama medis internasional)Progressive pseudorheumatoid dysplasia Panduan 1013Partington syndrome (nama medis internasional)Partington syndrome Panduan 1014Arginine vasopressin deficiency (nama medis internasional)Arginine vasopressin deficiency Panduan 1015Hereditary hyperekplexia (nama medis internasional)Hereditary hyperekplexia Panduan 1016Cherubism (nama medis internasional)Cherubism Panduan 1017Scalp-ear-nipple syndrome (nama medis internasional)Scalp-ear-nipple syndrome Panduan 1018Fragile X-associated primary ovarian insufficiency (nama medis internasional)Fragile X-associated primary ovarian insufficiency Panduan 1019Pilomatricoma (nama medis internasional)Pilomatricoma Panduan 1020Asphyxiating thoracic dystrophy (nama medis internasional)Asphyxiating thoracic dystrophy Panduan 1021CLN2 disease (nama medis internasional)CLN2 disease Panduan 1022Clopidogrel resistance (nama medis internasional)Clopidogrel resistance Panduan 1023Craniometaphyseal dysplasia (nama medis internasional)Craniometaphyseal dysplasia Panduan 1024Parkes Weber syndrome (nama medis internasional)Parkes Weber syndrome Panduan 102519p13.13 deletion syndrome (nama medis internasional)19p13.13 deletion syndrome Panduan 1026Perrault syndrome (nama medis internasional)Perrault syndrome Panduan 1027Beare-Stevenson cutis gyrata syndrome (nama medis internasional)Beare-Stevenson cutis gyrata syndrome Panduan 1028Glutathione synthetase deficiency (nama medis internasional)Glutathione synthetase deficiency Panduan 1029Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (nama medis internasional)Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Panduan 1030Essential thrombocythemia (nama medis internasional)Essential thrombocythemia Panduan 1031MyD88 deficiency (nama medis internasional)MyD88 deficiency Panduan 1032Tumor necrosis factor receptor-associated periodic syndrome (nama medis internasional)Tumor necrosis factor receptor-associated periodic syndrome Panduan 1033Alexander disease (nama medis internasional)Alexander disease Panduan 1034Ataxia-pancytopenia syndrome (nama medis internasional)Ataxia-pancytopenia syndrome Panduan 1035ALG12-congenital disorder of glycosylation (nama medis internasional)ALG12-congenital disorder of glycosylation Panduan 1036Oculocutaneous albinism (nama medis internasional)Oculocutaneous albinism Panduan 1037Familial osteochondritis dissecans (nama medis internasional)Familial osteochondritis dissecans Panduan 1038Familial exudative vitreoretinopathy (nama medis internasional)Familial exudative vitreoretinopathy Panduan 1039Silver-Russell syndrome (nama medis internasional)Silver-Russell syndrome Panduan 1040Hereditary angioedema (nama medis internasional)Hereditary angioedema Panduan 1041Canavan disease (nama medis internasional)Canavan disease Panduan 1042Mitochondrial membrane protein-associated neurodegeneration (nama medis internasional)Mitochondrial membrane protein-associated neurodegeneration Panduan 1043Miller syndrome (nama medis internasional)Miller syndrome Panduan 1044Protein C deficiency (nama medis internasional)Protein C deficiency Panduan 1045Age-related hearing loss (nama medis internasional)Age-related hearing loss Panduan 1046Multicentric osteolysis, nodulosis, and arthropathy (nama medis internasional)Multicentric osteolysis, nodulosis, and arthropathy Panduan 1047Lujan syndrome (nama medis internasional)Lujan syndrome Panduan 1048White-Sutton syndrome (nama medis internasional)White-Sutton syndrome Panduan 1049Krabbe disease (nama medis internasional)Krabbe disease Panduan 1050Emery-Dreifuss muscular dystrophy (nama medis internasional)Emery-Dreifuss muscular dystrophy Panduan 1051Weissenbacher-Zweymüller syndrome (nama medis internasional)Weissenbacher-Zweymüller syndrome Panduan 1052Ewing sarcoma (nama medis internasional)Ewing sarcoma Panduan 1053Spastic paraplegia type 5A (nama medis internasional)Spastic paraplegia type 5A Panduan 1054Tarsal-carpal coalition syndrome (nama medis internasional)Tarsal-carpal coalition syndrome Panduan 1055Pseudoxanthoma elasticum (nama medis internasional)Pseudoxanthoma elasticum Panduan 1056Keratitis-ichthyosis-deafness syndrome (nama medis internasional)Keratitis-ichthyosis-deafness syndrome Panduan 1057Anophthalmia/microphthalmia-esophageal atresia syndrome (nama medis internasional)Anophthalmia/microphthalmia-esophageal atresia syndrome Panduan 1058Medullary cystic kidney disease type 1 (nama medis internasional)Medullary cystic kidney disease type 1 Panduan 1059Osteoporosis-pseudoglioma syndrome (nama medis internasional)Osteoporosis-pseudoglioma syndrome Panduan 1060X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (nama medis internasional)X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Panduan 1061Early-onset isolated dystonia (nama medis internasional)Early-onset isolated dystonia Panduan 1062Isolated Duane retraction syndrome (nama medis internasional)Isolated Duane retraction syndrome Panduan 1063Polycythemia vera (nama medis internasional)Polycythemia vera Panduan 1064X-linked dystonia-parkinsonism (nama medis internasional)X-linked dystonia-parkinsonism Panduan 1065Congenital bile acid synthesis defect type 2 (nama medis internasional)Congenital bile acid synthesis defect type 2 Panduan 1066Inherited thyroxine-binding globulin deficiency (nama medis internasional)Inherited thyroxine-binding globulin deficiency Panduan 1067Sindrom MoyamoyaMoyamoya disease Panduan 1068Acrocallosal syndrome (nama medis internasional)Acrocallosal syndrome Panduan 1069Myotonia congenita (nama medis internasional)Myotonia congenita Panduan 10703p deletion syndrome (nama medis internasional)3p deletion syndrome Panduan 1071Congenital myasthenic syndromes (nama medis internasional)Congenital myasthenic syndromes Panduan 1072Potocki-Shaffer syndrome (nama medis internasional)Potocki-Shaffer syndrome Panduan 1073Liebenberg syndrome (nama medis internasional)Liebenberg syndrome Panduan 1074Fibrodysplasia ossificans progressivaFibrodysplasia ossificans progressiva Panduan 1075Sheldon-Hall syndrome (nama medis internasional)Sheldon-Hall syndrome Panduan 1076Factor XI deficiency (nama medis internasional)Factor XI deficiency Panduan 1077Cockayne syndrome (nama medis internasional)Cockayne syndrome Panduan 1078Vitelliform macular dystrophy (nama medis internasional)Vitelliform macular dystrophy Panduan 1079BlepharospasmaBenign essential blepharospasm Panduan 1080Hereditary multiple osteochondromas (nama medis internasional)Hereditary multiple osteochondromas Panduan 1081Spinocerebellar ataxia type 3 (nama medis internasional)Spinocerebellar ataxia type 3 Panduan 1082Hypomyelination and congenital cataract (nama medis internasional)Hypomyelination and congenital cataract Panduan 1083CHILD syndrome (nama medis internasional)CHILD syndrome Panduan 1084Cerebral cavernous malformation (nama medis internasional)Cerebral cavernous malformation Panduan 1085Recurrent hydatidiform mole (nama medis internasional)Recurrent hydatidiform mole Panduan 1086Complement component 2 deficiency (nama medis internasional)Complement component 2 deficiency Panduan 1087Nonsyndromic aplasia cutis congenita (nama medis internasional)Nonsyndromic aplasia cutis congenita Panduan 1088REN-related kidney disease (nama medis internasional)REN-related kidney disease Panduan 1089Acromicric dysplasia (nama medis internasional)Acromicric dysplasia Panduan 1090Tubular aggregate myopathy (nama medis internasional)Tubular aggregate myopathy Panduan 1091Cone-rod dystrophy (nama medis internasional)Cone-rod dystrophy Panduan 1092Familial Mediterranean fever (nama medis internasional)Familial Mediterranean fever Panduan 1093Otospondylomegaepiphyseal dysplasia (nama medis internasional)Otospondylomegaepiphyseal dysplasia Panduan 1094Nonsyndromic dilated cardiomyopathy (nama medis internasional)Nonsyndromic dilated cardiomyopathy Panduan 1095Laktat dehidrogenaseLactate dehydrogenase deficiency Panduan 1096Tibial muscular dystrophy (nama medis internasional)Tibial muscular dystrophy Panduan 1097FOXP2-related speech and language disorder (nama medis internasional)FOXP2-related speech and language disorder Panduan 1098X-linked sideroblastic anemia (nama medis internasional)X-linked sideroblastic anemia Panduan 1099Pseudoachondroplasia (nama medis internasional)Pseudoachondroplasia Panduan 1100Neurofibromatosis type 2 (nama medis internasional)Neurofibromatosis type 2 Panduan 1101Phosphoglycerate kinase deficiency (nama medis internasional)Phosphoglycerate kinase deficiency Panduan 1102HSD10 disease (nama medis internasional)HSD10 disease Panduan 1103X-linked acrogigantism (nama medis internasional)X-linked acrogigantism Panduan 1104Multiple system atrophy (nama medis internasional)Multiple system atrophy Panduan 1105Paroxysmal extreme pain disorder (nama medis internasional)Paroxysmal extreme pain disorder Panduan 1106Dysequilibrium syndrome (nama medis internasional)Dysequilibrium syndrome Panduan 1107Lymphedema-distichiasis syndrome (nama medis internasional)Lymphedema-distichiasis syndrome Panduan 1108Complete LCAT deficiency (nama medis internasional)Complete LCAT deficiency Panduan 1109T-cell immunodeficiency, congenital alopecia, and nail dystrophy (nama medis internasional)T-cell immunodeficiency, congenital alopecia, and nail dystrophy Panduan 1110Pulmonary alveolar microlithiasis (nama medis internasional)Pulmonary alveolar microlithiasis Panduan 1111Autosomal recessive primary microcephaly (nama medis internasional)Autosomal recessive primary microcephaly Panduan 1112Hepatic veno-occlusive disease with immunodeficiency (nama medis internasional)Hepatic veno-occlusive disease with immunodeficiency Panduan 1113MECP2-related severe neonatal encephalopathy (nama medis internasional)MECP2-related severe neonatal encephalopathy Panduan 11143-hydroxyacyl-CoA dehydrogenase deficiency (nama medis internasional)3-hydroxyacyl-CoA dehydrogenase deficiency Panduan 1115Epidermolytic hyperkeratosis (nama medis internasional)Epidermolytic hyperkeratosis Panduan 1116Perry syndrome (nama medis internasional)Perry syndrome Panduan 1117Proopiomelanocortin deficiency (nama medis internasional)Proopiomelanocortin deficiency Panduan 111817q12 duplication (nama medis internasional)17q12 duplication Panduan 1119Weaver syndrome (nama medis internasional)Weaver syndrome Panduan 1120Isobutyryl-CoA dehydrogenase deficiency (nama medis internasional)Isobutyryl-CoA dehydrogenase deficiency Panduan 1121X-linked chondrodysplasia punctata 1 (nama medis internasional)X-linked chondrodysplasia punctata 1 Panduan 1122Combined oxidative phosphorylation deficiency 1 (nama medis internasional)Combined oxidative phosphorylation deficiency 1 Panduan 1123Pyruvate kinase deficiency (nama medis internasional)Pyruvate kinase deficiency Panduan 1124Factor XIII deficiency (nama medis internasional)Factor XIII deficiency Panduan 11255q minus syndrome (nama medis internasional)5q minus syndrome Panduan 1126KCNK9 imprinting syndrome (nama medis internasional)KCNK9 imprinting syndrome Panduan 1127Ocular albinism (nama medis internasional)Ocular albinism Panduan 1128Feingold syndrome (nama medis internasional)Feingold syndrome Panduan 11291p36 deletion syndrome (nama medis internasional)1p36 deletion syndrome Panduan 1130Sindrom GilbertGilbert syndrome Panduan 1131Harlequin ichthyosis (nama medis internasional)Harlequin ichthyosis Panduan 1132X-linked thrombocytopenia (nama medis internasional)X-linked thrombocytopenia Panduan 1133Penyakit MénièreMénière disease Panduan 1134Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (nama medis internasional)Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes Panduan 1135Fundus albipunctatus (nama medis internasional)Fundus albipunctatus Panduan 1136Short-chain acyl-CoA dehydrogenase deficiency (nama medis internasional)Short-chain acyl-CoA dehydrogenase deficiency Panduan 1137Denys-Drash syndrome (nama medis internasional)Denys-Drash syndrome Panduan 1138Primary myelofibrosis (nama medis internasional)Primary myelofibrosis Panduan 1139Renpenning syndrome (nama medis internasional)Renpenning syndrome Panduan 1140X-linked lissencephaly with abnormal genitalia (nama medis internasional)X-linked lissencephaly with abnormal genitalia Panduan 1141Clouston syndrome (nama medis internasional)Clouston syndrome Panduan 1142GM2 activator deficiency (nama medis internasional)GM2 activator deficiency Panduan 1143Glutaric acidemia type II (nama medis internasional)Glutaric acidemia type II Panduan 1144PneumothoraksPrimary spontaneous pneumothorax Panduan 1145Congenital contractural arachnodactyly (nama medis internasional)Congenital contractural arachnodactyly Panduan 11465-alpha reductase deficiency (nama medis internasional)5-alpha reductase deficiency Panduan 1147Warfarin sensitivity (nama medis internasional)Warfarin sensitivity Panduan 1148Craniofacial-deafness-hand syndrome (nama medis internasional)Craniofacial-deafness-hand syndrome Panduan 1149Ochoa syndrome (nama medis internasional)Ochoa syndrome Panduan 11506q24-related transient neonatal diabetes mellitus (nama medis internasional)6q24-related transient neonatal diabetes mellitus Panduan 1151DNMT3A overgrowth syndrome (nama medis internasional)DNMT3A overgrowth syndrome Panduan 1152Achromatopsia (nama medis internasional)Achromatopsia Panduan 1153Chordoma (nama medis internasional)Chordoma Panduan 1154Pulmonary arterial hypertension (nama medis internasional)Pulmonary arterial hypertension Panduan 1155Spinocerebellar ataxia type 2 (nama medis internasional)Spinocerebellar ataxia type 2 Panduan 1156Autosomal recessive axonal neuropathy with neuromyotonia (nama medis internasional)Autosomal recessive axonal neuropathy with neuromyotonia Panduan 1157Sindrom AngelmanAngelman syndrome Panduan 1158Actin-accumulation myopathy (nama medis internasional)Actin-accumulation myopathy Panduan 1159Familial isolated hyperparathyroidism (nama medis internasional)Familial isolated hyperparathyroidism Panduan 1160Autosomal dominant tubulointerstitial kidney disease-UMOD (nama medis internasional)Autosomal dominant tubulointerstitial kidney disease-UMOD Panduan 1161Enlarged parietal foramina (nama medis internasional)Enlarged parietal foramina Panduan 1162Cohen syndrome (nama medis internasional)Cohen syndrome Panduan 1163Omenn syndrome (nama medis internasional)Omenn syndrome Panduan 1164Adermatoglyphia (nama medis internasional)Adermatoglyphia Panduan 1165Isolated congenital asplenia (nama medis internasional)Isolated congenital asplenia Panduan 116617-beta hydroxysteroid dehydrogenase 3 deficiency (nama medis internasional)17-beta hydroxysteroid dehydrogenase 3 deficiency Panduan 1167CLN5 disease (nama medis internasional)CLN5 disease Panduan 1168Hypochondroplasia (nama medis internasional)Hypochondroplasia Panduan 1169Winchester syndrome (nama medis internasional)Winchester syndrome Panduan 1170Bare lymphocyte syndrome type II (nama medis internasional)Bare lymphocyte syndrome type II Panduan 1171X-linked congenital stationary night blindness (nama medis internasional)X-linked congenital stationary night blindness Panduan 1172Hepatic lipase deficiency (nama medis internasional)Hepatic lipase deficiency Panduan 1173Sindrom CushingCushing disease Panduan 1174Lysinuric protein intolerance (nama medis internasional)Lysinuric protein intolerance Panduan 1175Spastic paraplegia type 4 (nama medis internasional)Spastic paraplegia type 4 Panduan 1176Kebotakan rambut berpolaAndrogenetic alopecia Panduan 1177Familial glucocorticoid deficiency (nama medis internasional)Familial glucocorticoid deficiency Panduan 1178Multiple mitochondrial dysfunctions syndrome (nama medis internasional)Multiple mitochondrial dysfunctions syndrome Panduan 1179Spastic paraplegia type 3A (nama medis internasional)Spastic paraplegia type 3A Panduan 1180Pyruvate dehydrogenase deficiency (nama medis internasional)Pyruvate dehydrogenase deficiency Panduan 1181Sindrom X rapuhFragile X syndrome Panduan 1182Glucose-6-phosphate dehydrogenase deficiency (nama medis internasional)Glucose-6-phosphate dehydrogenase deficiency Panduan 1183Hereditary antithrombin deficiency (nama medis internasional)Hereditary antithrombin deficiency Panduan 1184Intranuclear rod myopathy (nama medis internasional)Intranuclear rod myopathy Panduan 1185Myoclonic epilepsy myopathy sensory ataxia (nama medis internasional)Myoclonic epilepsy myopathy sensory ataxia Panduan 1186X-linked dilated cardiomyopathy (nama medis internasional)X-linked dilated cardiomyopathy Panduan 1187IRAK-4 deficiency (nama medis internasional)IRAK-4 deficiency Panduan 1188Left ventricular noncompaction (nama medis internasional)Left ventricular noncompaction Panduan 118916p11.2 deletion syndrome (nama medis internasional)16p11.2 deletion syndrome Panduan 1190Bradyopsia (nama medis internasional)Bradyopsia Panduan 1191Generalized pustular psoriasis (nama medis internasional)Generalized pustular psoriasis Panduan 1192Isolated hyperchlorhidrosis (nama medis internasional)Isolated hyperchlorhidrosis Panduan 1193Kanker kepala dan leherHead and neck squamous cell carcinoma Panduan 1194Optic atrophy type 1 (nama medis internasional)Optic atrophy type 1 Panduan 1195CLN4 disease (nama medis internasional)CLN4 disease Panduan 1196Developmental and epileptic encephalopathy 1 (nama medis internasional)Developmental and epileptic encephalopathy 1 Panduan 1197GRACILE syndrome (nama medis internasional)GRACILE syndrome Panduan 11985q31.3 microdeletion syndrome (nama medis internasional)5q31.3 microdeletion syndrome Panduan 1199Sindrom BrugadaBrugada syndrome Panduan 1200Glucose phosphate isomerase deficiency (nama medis internasional)Glucose phosphate isomerase deficiency Panduan 1201Multiple epiphyseal dysplasia (nama medis internasional)Multiple epiphyseal dysplasia Panduan 1202ACAD9 deficiency (nama medis internasional)ACAD9 deficiency Panduan 1203Myopathy with deficiency of iron-sulfur cluster assembly enzyme (nama medis internasional)Myopathy with deficiency of iron-sulfur cluster assembly enzyme Panduan 1204Smith-Kingsmore syndrome (nama medis internasional)Smith-Kingsmore syndrome Panduan 1205Autosomal dominant vitreoretinochoroidopathy (nama medis internasional)Autosomal dominant vitreoretinochoroidopathy Panduan 1206Renal hypouricemia (nama medis internasional)Renal hypouricemia Panduan 12073-hydroxy-3-methylglutaryl-CoA lyase deficiency (nama medis internasional)3-hydroxy-3-methylglutaryl-CoA lyase deficiency Panduan 1208Renal coloboma syndrome (nama medis internasional)Renal coloboma syndrome Panduan 1209Sindrom MERRFMyoclonic epilepsy with ragged-red fibers Panduan 1210Meckel syndrome (nama medis internasional)Meckel syndrome Panduan 1211Spastic paraplegia type 8 (nama medis internasional)Spastic paraplegia type 8 Panduan 1212Dentinogenesis imperfecta (nama medis internasional)Dentinogenesis imperfecta Panduan 1213Early-onset myopathy with fatal cardiomyopathy (nama medis internasional)Early-onset myopathy with fatal cardiomyopathy Panduan 1214Mitochondrial trifunctional protein deficiency (nama medis internasional)Mitochondrial trifunctional protein deficiency Panduan 1215Fucosidosis (nama medis internasional)Fucosidosis Panduan 1216Bowen-Conradi syndrome (nama medis internasional)Bowen-Conradi syndrome Panduan 1217Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (nama medis internasional)Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Panduan 1218Hyperkalemic periodic paralysis (nama medis internasional)Hyperkalemic periodic paralysis Panduan 1219Adiposis dolorosa (nama medis internasional)Adiposis dolorosa Panduan 1220Senior-Løken syndrome (nama medis internasional)Senior-Løken syndrome Panduan 1221Spondylocarpotarsal synostosis syndrome (nama medis internasional)Spondylocarpotarsal synostosis syndrome Panduan 1222Horizontal gaze palsy with progressive scoliosis (nama medis internasional)Horizontal gaze palsy with progressive scoliosis Panduan 1223FeritinHyperferritinemia-cataract syndrome Panduan 1224Silver syndrome (nama medis internasional)Silver syndrome Panduan 1225Kleefstra syndrome (nama medis internasional)Kleefstra syndrome Panduan 1226Hand-foot-genital syndrome (nama medis internasional)Hand-foot-genital syndrome Panduan 1227CHST3-related skeletal dysplasia (nama medis internasional)CHST3-related skeletal dysplasia Panduan 1228Spastic paraplegia type 31 (nama medis internasional)Spastic paraplegia type 31 Panduan 1229Myosin storage myopathy (nama medis internasional)Myosin storage myopathy Panduan 1230Fibronectin glomerulopathy (nama medis internasional)Fibronectin glomerulopathy Panduan 1231Severe congenital neutropenia (nama medis internasional)Severe congenital neutropenia Panduan 1232Cornelia de Lange syndrome (nama medis internasional)Cornelia de Lange syndrome Panduan 1233Coffin-Lowry syndrome (nama medis internasional)Coffin-Lowry syndrome Panduan 1234Werner syndrome (nama medis internasional)Werner syndrome Panduan 1235N-acetylglutamate synthase deficiency (nama medis internasional)N-acetylglutamate synthase deficiency Panduan 1236PRICKLE1-related progressive myoclonus epilepsy with ataxia (nama medis internasional)PRICKLE1-related progressive myoclonus epilepsy with ataxia Panduan 1237Cryptogenic cirrhosis (nama medis internasional)Cryptogenic cirrhosis Panduan 1238Ataxia neuropathy spectrum (nama medis internasional)Ataxia neuropathy spectrum Panduan 1239Sindrom nefrotik kongenitalCongenital nephrotic syndrome Panduan 1240Spinal muscular atrophy with lower extremity predominance (nama medis internasional)Spinal muscular atrophy with lower extremity predominance Panduan 124116p12.2 microdeletion (nama medis internasional)16p12.2 microdeletion Panduan 1242Erythromelalgia (nama medis internasional)Erythromelalgia Panduan 1243Sindrom Treacher CollinsTreacher Collins syndrome Panduan 1244Piebaldism (nama medis internasional)Piebaldism Panduan 1245Leydig cell hypoplasia (nama medis internasional)Leydig cell hypoplasia Panduan 12463MC syndrome (nama medis internasional)3MC syndrome Panduan 1247Sindrom HornerHorner syndrome Panduan 1248Miller-Dieker syndrome (nama medis internasional)Miller-Dieker syndrome Panduan 1249SUCLG1-related mitochondrial DNA depletion syndrome (nama medis internasional)SUCLG1-related mitochondrial DNA depletion syndrome Panduan 1250Hereditary myopathy with early respiratory failure (nama medis internasional)Hereditary myopathy with early respiratory failure Panduan 1251Corticosterone methyloxidase deficiency (nama medis internasional)Corticosterone methyloxidase deficiency Panduan 1252Glanzmann thrombasthenia (nama medis internasional)Glanzmann thrombasthenia Panduan 1253Congenital sucrase-isomaltase deficiency (nama medis internasional)Congenital sucrase-isomaltase deficiency Panduan 1254COG5-congenital disorder of glycosylation (nama medis internasional)COG5-congenital disorder of glycosylation Panduan 1255Bietti crystalline dystrophy (nama medis internasional)Bietti crystalline dystrophy Panduan 1256Romano-Ward syndrome (nama medis internasional)Romano-Ward syndrome Panduan 1257TK2-related mitochondrial DNA depletion syndrome, myopathic form (nama medis internasional)TK2-related mitochondrial DNA depletion syndrome, myopathic form Panduan 1258Erythrokeratodermia variabilis et progressiva (nama medis internasional)Erythrokeratodermia variabilis et progressiva Panduan 1259Propionic acidemia (nama medis internasional)Propionic acidemia Panduan 1260Hyperprolinemia (nama medis internasional)Hyperprolinemia Panduan 1261Monilethrix (nama medis internasional)Monilethrix Panduan 1262Adult polyglucosan body disease (nama medis internasional)Adult polyglucosan body disease Panduan 1263Ophthalmo-acromelic syndrome (nama medis internasional)Ophthalmo-acromelic syndrome Panduan 1264X-linked adrenal hypoplasia congenita (nama medis internasional)X-linked adrenal hypoplasia congenita Panduan 1265Refsum disease (nama medis internasional)Refsum disease Panduan 1266Vohwinkel syndrome (nama medis internasional)Vohwinkel syndrome Panduan 1267Buta warnaColor vision deficiency Panduan 1268Desmosterolosis (nama medis internasional)Desmosterolosis Panduan 1269Wagner syndrome (nama medis internasional)Wagner syndrome Panduan 1270ALG6-congenital disorder of glycosylation (nama medis internasional)ALG6-congenital disorder of glycosylation Panduan 1271Mucolipidosis III alpha/beta (nama medis internasional)Mucolipidosis III alpha/beta Panduan 1272Neuropathy, ataxia, and retinitis pigmentosa (nama medis internasional)Neuropathy, ataxia, and retinitis pigmentosa Panduan 1273Paramyotonia congenita (nama medis internasional)Paramyotonia congenita Panduan 1274Ring chromosome 14 syndrome (nama medis internasional)Ring chromosome 14 syndrome Panduan 1275Frasier syndrome (nama medis internasional)Frasier syndrome Panduan 1276Rippling muscle disease (nama medis internasional)Rippling muscle disease Panduan 1277Boomerang dysplasia (nama medis internasional)Boomerang dysplasia Panduan 1278Hypomagnesemia with secondary hypocalcemia (nama medis internasional)Hypomagnesemia with secondary hypocalcemia Panduan 1279Monoamine oxidase A deficiency (nama medis internasional)Monoamine oxidase A deficiency Panduan 1280Sindrom Mayer-Rokitansky-Küster-HauserMayer-Rokitansky-Küster-Hauser syndrome Panduan 1281Cyclic neutropenia (nama medis internasional)Cyclic neutropenia Panduan 1282Spinocerebellar ataxia type 1 (nama medis internasional)Spinocerebellar ataxia type 1 Panduan 1283Arginase deficiency (nama medis internasional)Arginase deficiency Panduan 1284Laing distal myopathy (nama medis internasional)Laing distal myopathy Panduan 1285Tangier disease (nama medis internasional)Tangier disease Panduan 1286Argininosuccinic aciduria (nama medis internasional)Argininosuccinic aciduria Panduan 1287Familial pityriasis rubra pilaris (nama medis internasional)Familial pityriasis rubra pilaris Panduan 1288Sialuria (nama medis internasional)Sialuria Panduan 1289Pyridoxine-dependent epilepsy (nama medis internasional)Pyridoxine-dependent epilepsy Panduan 1290Congenital hyperinsulinism (nama medis internasional)Congenital hyperinsulinism Panduan 1291Microvillus inclusion disease (nama medis internasional)Microvillus inclusion disease Panduan 1292Complement component 8 deficiency (nama medis internasional)Complement component 8 deficiency Panduan 1293Primary macronodular adrenal hyperplasia (nama medis internasional)Primary macronodular adrenal hyperplasia Panduan 1294Gordon Holmes syndrome (nama medis internasional)Gordon Holmes syndrome Panduan 1295Acatalasemia (nama medis internasional)Acatalasemia Panduan 1296Molybdenum cofactor deficiency (nama medis internasional)Molybdenum cofactor deficiency Panduan 1297Primary carnitine deficiency (nama medis internasional)Primary carnitine deficiency Panduan 1298Gray platelet syndrome (nama medis internasional)Gray platelet syndrome Panduan 1299Nonbullous congenital ichthyosiform erythroderma (nama medis internasional)Nonbullous congenital ichthyosiform erythroderma Panduan 1300MUTYH-associated polyposis (nama medis internasional)MUTYH-associated polyposis Panduan 1301Phosphoribosylpyrophosphate synthetase superactivity (nama medis internasional)Phosphoribosylpyrophosphate synthetase superactivity Panduan 1302Hypokalemic periodic paralysis (nama medis internasional)Hypokalemic periodic paralysis Panduan 1303Muenke syndrome (nama medis internasional)Muenke syndrome Panduan 1304ZAP70-related severe combined immunodeficiency (nama medis internasional)ZAP70-related severe combined immunodeficiency Panduan 1305ProgeriaHutchinson-Gilford progeria syndrome Panduan 1306Childhood absence epilepsy (nama medis internasional)Childhood absence epilepsy Panduan 1307Weill-Marchesani syndrome (nama medis internasional)Weill-Marchesani syndrome Panduan 1308AnensefaliAnencephaly Panduan 1309Hailey-Hailey disease (nama medis internasional)Hailey-Hailey disease Panduan 1310Otulipenia (nama medis internasional)Otulipenia Panduan 1311Lissencephaly with cerebellar hypoplasia (nama medis internasional)Lissencephaly with cerebellar hypoplasia Panduan 1312Pseudohypoaldosteronism type 2 (nama medis internasional)Pseudohypoaldosteronism type 2 Panduan 1313Tietz syndrome (nama medis internasional)Tietz syndrome Panduan 1314Hartnup disease (nama medis internasional)Hartnup disease Panduan 1315Sepiapterin reductase deficiency (nama medis internasional)Sepiapterin reductase deficiency Panduan 1316CLN7 disease (nama medis internasional)CLN7 disease Panduan 1317X-linked infantile spinal muscular atrophy (nama medis internasional)X-linked infantile spinal muscular atrophy Panduan 1318Marinesco-Sjögren syndrome (nama medis internasional)Marinesco-Sjögren syndrome Panduan 1319Ohdo syndrome, Maat-Kievit-Brunner type (nama medis internasional)Ohdo syndrome, Maat-Kievit-Brunner type Panduan 1320Kuskokwim syndrome (nama medis internasional)Kuskokwim syndrome Panduan 1321Miyoshi myopathy (nama medis internasional)Miyoshi myopathy Panduan 1322Smith-Lemli-Opitz syndrome (nama medis internasional)Smith-Lemli-Opitz syndrome Panduan 1323Homocystinuria (nama medis internasional)Homocystinuria Panduan 1324Lynch syndrome (nama medis internasional)Lynch syndrome Panduan 1325Microphthalmia with linear skin defects syndrome (nama medis internasional)Microphthalmia with linear skin defects syndrome Panduan 1326Proximal 18q deletion syndrome (nama medis internasional)Proximal 18q deletion syndrome Panduan 1327Hypermethioninemia (nama medis internasional)Hypermethioninemia Panduan 1328Diastrophic dysplasia (nama medis internasional)Diastrophic dysplasia Panduan 1329Familial HDL deficiency (nama medis internasional)Familial HDL deficiency Panduan 1330Gitelman syndrome (nama medis internasional)Gitelman syndrome Panduan 1331Gabungan malonik dan metilmalonik aciduriaCombined malonic and methylmalonic aciduria Panduan 1332Familial porencephaly (nama medis internasional)Familial porencephaly Panduan 1333X-linked infantile nystagmus (nama medis internasional)X-linked infantile nystagmus Panduan 1334MECP2 duplication syndrome (nama medis internasional)MECP2 duplication syndrome Panduan 1335Mucolipidosis III gamma (nama medis internasional)Mucolipidosis III gamma Panduan 1336Arts syndrome (nama medis internasional)Arts syndrome Panduan 1337Bare lymphocyte syndrome type I (nama medis internasional)Bare lymphocyte syndrome type I Panduan 1338Müllerian aplasia and hyperandrogenism (nama medis internasional)Müllerian aplasia and hyperandrogenism Panduan 1339Fragile XE syndrome (nama medis internasional)Fragile XE syndrome Panduan 1340Medium-chain acyl-CoA dehydrogenase deficiency (nama medis internasional)Medium-chain acyl-CoA dehydrogenase deficiency Panduan 1341Björnstad syndrome (nama medis internasional)Björnstad syndrome Panduan 1342Succinyl-CoA:3-ketoacid CoA transferase deficiency (nama medis internasional)Succinyl-CoA:3-ketoacid CoA transferase deficiency Panduan 1343Meesmann corneal dystrophy (nama medis internasional)Meesmann corneal dystrophy Panduan 1344White sponge nevus (nama medis internasional)White sponge nevus Panduan 1345Childhood myocerebrohepatopathy spectrum (nama medis internasional)Childhood myocerebrohepatopathy spectrum Panduan 1346Fabry disease (nama medis internasional)Fabry disease Panduan 13473-methylcrotonyl-CoA carboxylase deficiency (nama medis internasional)3-methylcrotonyl-CoA carboxylase deficiency Panduan 1348Congenital stromal corneal dystrophy (nama medis internasional)Congenital stromal corneal dystrophy Panduan 13493q29 microduplication syndrome (nama medis internasional)3q29 microduplication syndrome Panduan 1350Recombinant 8 syndrome (nama medis internasional)Recombinant 8 syndrome Panduan 1351Juvenile myoclonic epilepsy (nama medis internasional)Juvenile myoclonic epilepsy Panduan 1352Tetrahydrobiopterin deficiency (nama medis internasional)Tetrahydrobiopterin deficiency Panduan 1353Ring chromosome 20 syndrome (nama medis internasional)Ring chromosome 20 syndrome Panduan 1354SUCLA2-related mitochondrial DNA depletion syndrome (nama medis internasional)SUCLA2-related mitochondrial DNA depletion syndrome Panduan 1355Pubertas sebelum waktunyaCentral precocious puberty Panduan 1356Penyakit HersGlycogen storage disease type VI Panduan 1357Short QT syndrome (nama medis internasional)Short QT syndrome Panduan 1358Autosomal recessive hypotrichosis (nama medis internasional)Autosomal recessive hypotrichosis Panduan 1359Li-Fraumeni syndrome (nama medis internasional)Li-Fraumeni syndrome Panduan 1360Carnitine-acylcarnitine translocase deficiency (nama medis internasional)Carnitine-acylcarnitine translocase deficiency Panduan 1361Lamellar ichthyosis (nama medis internasional)Lamellar ichthyosis Panduan 1362Maternally inherited diabetes and deafness (nama medis internasional)Maternally inherited diabetes and deafness Panduan 1363Lesch-Nyhan syndrome (nama medis internasional)Lesch-Nyhan syndrome Panduan 1364Factor VII deficiency (nama medis internasional)Factor VII deficiency Panduan 1365Methemoglobinemia, beta-globin type (nama medis internasional)Methemoglobinemia, beta-globin type Panduan 1366Emanuel syndrome (nama medis internasional)Emanuel syndrome Panduan 1367Peroxisomal acyl-CoA oxidase deficiency (nama medis internasional)Peroxisomal acyl-CoA oxidase deficiency Panduan 1368Congenital afibrinogenemia (nama medis internasional)Congenital afibrinogenemia Panduan 1369Carbamoyl phosphate synthetase I deficiency (nama medis internasional)Carbamoyl phosphate synthetase I deficiency Panduan 1370Peutz-Jeghers syndrome (nama medis internasional)Peutz-Jeghers syndrome Panduan 1371Atelosteogenesis type 1 (nama medis internasional)Atelosteogenesis type 1 Panduan 1372Stargardt macular degeneration (nama medis internasional)Stargardt macular degeneration Panduan 1373Distal myopathy 2 (nama medis internasional)Distal myopathy 2 Panduan 1374Beta-mannosidosis (nama medis internasional)Beta-mannosidosis Panduan 1375Milroy disease (nama medis internasional)Milroy disease Panduan 1376Cerebral folate transport deficiency (nama medis internasional)Cerebral folate transport deficiency Panduan 1377Chylomicron retention disease (nama medis internasional)Chylomicron retention disease Panduan 1378Koolen-de Vries syndrome (nama medis internasional)Koolen-de Vries syndrome Panduan 1379NGLY1-congenital disorder of deglycosylation (nama medis internasional)NGLY1-congenital disorder of deglycosylation Panduan 1380Familial hypobetalipoproteinemia (nama medis internasional)Familial hypobetalipoproteinemia Panduan 1381Biotinidase deficiency (nama medis internasional)Biotinidase deficiency Panduan 1382Léri-Weill dyschondrosteosis (nama medis internasional)Léri-Weill dyschondrosteosis Panduan 1383Spondyloepiphyseal dysplasia with metatarsal shortening (nama medis internasional)Spondyloepiphyseal dysplasia with metatarsal shortening Panduan 1384Iron-refractory iron deficiency anemia (nama medis internasional)Iron-refractory iron deficiency anemia Panduan 1385Norrie disease (nama medis internasional)Norrie disease Panduan 1386Lattice corneal dystrophy type I (nama medis internasional)Lattice corneal dystrophy type I Panduan 1387DOLK-congenital disorder of glycosylation (nama medis internasional)DOLK-congenital disorder of glycosylation Panduan 1388Glucose-galactose malabsorption (nama medis internasional)Glucose-galactose malabsorption Panduan 1389Fuchs endothelial dystrophy (nama medis internasional)Fuchs endothelial dystrophy Panduan 1390Myoclonus-dystonia (nama medis internasional)Myoclonus-dystonia Panduan 1391Mannose-binding lectin deficiency (nama medis internasional)Mannose-binding lectin deficiency Panduan 139215q24 microdeletion (nama medis internasional)15q24 microdeletion Panduan 1393Beta-ureidopropionase deficiency (nama medis internasional)Beta-ureidopropionase deficiency Panduan 1394Macrozoospermia (nama medis internasional)Macrozoospermia Panduan 1395Corticosteroid-binding globulin deficiency (nama medis internasional)Corticosteroid-binding globulin deficiency Panduan 1396Ghosal hematodiaphyseal dysplasia (nama medis internasional)Ghosal hematodiaphyseal dysplasia Panduan 1397Legius syndrome (nama medis internasional)Legius syndrome Panduan 1398Hereditary xanthinuria (nama medis internasional)Hereditary xanthinuria Panduan 1399Thanatophoric dysplasia (nama medis internasional)Thanatophoric dysplasia Panduan 1400Alport syndrome (nama medis internasional)Alport syndrome Panduan 1401MDA5 deficiency (nama medis internasional)MDA5 deficiency Panduan 1402Congenital bilateral absence of the vas deferens (nama medis internasional)Congenital bilateral absence of the vas deferens Panduan 1403Neuroferritinopathy (nama medis internasional)Neuroferritinopathy Panduan 1404Supravalvular aortic stenosis (nama medis internasional)Supravalvular aortic stenosis Panduan 140546,XX testicular difference of sex development (nama medis internasional)46,XX testicular difference of sex development Panduan 1406Dubin-Johnson syndrome (nama medis internasional)Dubin-Johnson syndrome Panduan 1407Amish lethal microcephaly (nama medis internasional)Amish lethal microcephaly Panduan 1408Chanarin-Dorfman syndrome (nama medis internasional)Chanarin-Dorfman syndrome Panduan 1409Meige disease (nama medis internasional)Meige disease Panduan 1410Pyle disease (nama medis internasional)Pyle disease Panduan 1411Eosinophil peroxidase deficiency (nama medis internasional)Eosinophil peroxidase deficiency Panduan 1412Sindrom Birt–Hogg–DubéBirt-Hogg-Dubé syndrome Panduan 1413Menkes syndrome (nama medis internasional)Menkes syndrome Panduan 1414Spinal and bulbar muscular atrophy (nama medis internasional)Spinal and bulbar muscular atrophy Panduan 1415Sindrom CrouzonCrouzon syndrome Panduan 1416Jackson-Weiss syndrome (nama medis internasional)Jackson-Weiss syndrome Panduan 1417Ellis-van Creveld syndrome (nama medis internasional)Ellis-van Creveld syndrome Panduan 1418Ethylmalonic encephalopathy (nama medis internasional)Ethylmalonic encephalopathy Panduan 1419X-linked creatine deficiency (nama medis internasional)X-linked creatine deficiency Panduan 1420Hystrix-like ichthyosis with deafness (nama medis internasional)Hystrix-like ichthyosis with deafness Panduan 1421Allan-Herndon-Dudley syndrome (nama medis internasional)Allan-Herndon-Dudley syndrome Panduan 1422Defisiensi fumaraseFumarase deficiency Panduan 1423Guanidinoacetate methyltransferase deficiency (nama medis internasional)Guanidinoacetate methyltransferase deficiency Panduan 1424Methylmalonic acidemia (nama medis internasional)Methylmalonic acidemia Panduan 1425Factor X deficiency (nama medis internasional)Factor X deficiency Panduan 1426Complete plasminogen activator inhibitor 1 deficiency (nama medis internasional)Complete plasminogen activator inhibitor 1 deficiency Panduan 1427Alström syndrome (nama medis internasional)Alström syndrome Panduan 1428Adenosine monophosphate deaminase deficiency (nama medis internasional)Adenosine monophosphate deaminase deficiency Panduan 1429Bart-Pumphrey syndrome (nama medis internasional)Bart-Pumphrey syndrome Panduan 1430Hypochromic microcytic anemia with iron overload (nama medis internasional)Hypochromic microcytic anemia with iron overload Panduan 1431Van der Woude syndrome (nama medis internasional)Van der Woude syndrome Panduan 1432Prekallikrein deficiency (nama medis internasional)Prekallikrein deficiency Panduan 1433CAV3-related distal myopathy (nama medis internasional)CAV3-related distal myopathy Panduan 1434Weyers acrofacial dysostosis (nama medis internasional)Weyers acrofacial dysostosis Panduan 1435Glutamate formiminotransferase deficiency (nama medis internasional)Glutamate formiminotransferase deficiency Panduan 1436Succinic semialdehyde dehydrogenase deficiency (nama medis internasional)Succinic semialdehyde dehydrogenase deficiency Panduan 1437Ichthyosis with confetti (nama medis internasional)Ichthyosis with confetti Panduan 1438Hallux vagusBunion Panduan 1439Pallister-Hall syndrome (nama medis internasional)Pallister-Hall syndrome Panduan 1440Potassium-aggravated myotonia (nama medis internasional)Potassium-aggravated myotonia Panduan 1441Congenital deafness with labyrinthine aplasia, microtia, and microdontia (nama medis internasional)Congenital deafness with labyrinthine aplasia, microtia, and microdontia Panduan 1442SADDAN (nama medis internasional)SADDAN Panduan 1443Arrhythmogenic right ventricular cardiomyopathy (nama medis internasional)Arrhythmogenic right ventricular cardiomyopathy Panduan 1444Dentatorubral-pallidoluysian atrophy (nama medis internasional)Dentatorubral-pallidoluysian atrophy Panduan 1445Greenberg dysplasia (nama medis internasional)Greenberg dysplasia Panduan 1446PDGFRB-associated chronic eosinophilic leukemia (nama medis internasional)PDGFRB-associated chronic eosinophilic leukemia Panduan 1447PolisitemiaFamilial erythrocytosis Panduan 1448Aldosterone-producing adenoma (nama medis internasional)Aldosterone-producing adenoma Panduan 1449SYNGAP1-related intellectual disability (nama medis internasional)SYNGAP1-related intellectual disability Panduan 1450Holocarboxylase synthetase deficiency (nama medis internasional)Holocarboxylase synthetase deficiency Panduan 1451GABA-transaminase deficiency (nama medis internasional)GABA-transaminase deficiency Panduan 1452Hereditary sensory and autonomic neuropathy type V (nama medis internasional)Hereditary sensory and autonomic neuropathy type V Panduan 1453SitisnuriaCystinuria Panduan 1454X-linked intellectual disability, Siderius type (nama medis internasional)X-linked intellectual disability, Siderius type Panduan 1455Ataxia with vitamin E deficiency (nama medis internasional)Ataxia with vitamin E deficiency Panduan 1456Congenital leptin deficiency (nama medis internasional)Congenital leptin deficiency Panduan 1457Atelosteogenesis type 2 (nama medis internasional)Atelosteogenesis type 2 Panduan 1458Rotor syndrome (nama medis internasional)Rotor syndrome Panduan 1459Penyakit urin sirup mapelMaple syrup urine disease Panduan 1460Multiple cutaneous and mucosal venous malformations (nama medis internasional)Multiple cutaneous and mucosal venous malformations Panduan 1461Brody myopathy (nama medis internasional)Brody myopathy Panduan 1462JAK3-deficient severe combined immunodeficiency (nama medis internasional)JAK3-deficient severe combined immunodeficiency Panduan 1463Deafness and myopia syndrome (nama medis internasional)Deafness and myopia syndrome Panduan 1464Alpha-methylacyl-CoA racemase deficiency (nama medis internasional)Alpha-methylacyl-CoA racemase deficiency Panduan 1465Stormorken syndrome (nama medis internasional)Stormorken syndrome Panduan 1466Y chromosome infertility (nama medis internasional)Y chromosome infertility Panduan 1467Christianson syndrome (nama medis internasional)Christianson syndrome Panduan 1468PPP2R5D-related intellectual disability (nama medis internasional)PPP2R5D-related intellectual disability Panduan 1469Phosphoglycerate mutase deficiency (nama medis internasional)Phosphoglycerate mutase deficiency Panduan 1470Choroideremia (nama medis internasional)Choroideremia Panduan 1471Grange syndrome (nama medis internasional)Grange syndrome Panduan 1472Liddle syndrome (nama medis internasional)Liddle syndrome Panduan 1473Beta-ketothiolase deficiency (nama medis internasional)Beta-ketothiolase deficiency Panduan 1474Leptin receptor deficiency (nama medis internasional)Leptin receptor deficiency Panduan 1475Urtikaria (Vibratory urticaria)Vibratory urticaria Panduan 1476Kategori:Bahasa IndonesiaTrisomy 18 Panduan 1477Sindrom tiga XTrisomy X Panduan 1478Distal arthrogryposis type 1 (nama medis internasional)Distal arthrogryposis type 1 Panduan 1479Mal de Meleda (nama medis internasional)Mal de Meleda Panduan 1480Autosomal recessive cerebellar ataxia type 1 (nama medis internasional)Autosomal recessive cerebellar ataxia type 1 Panduan 1481Langer mesomelic dysplasia (nama medis internasional)Langer mesomelic dysplasia Panduan 1482Autosomal recessive congenital stationary night blindness (nama medis internasional)Autosomal recessive congenital stationary night blindness Panduan 1483Aromatase excess syndrome (nama medis internasional)Aromatase excess syndrome Panduan 1484Progressive osseous heteroplasia (nama medis internasional)Progressive osseous heteroplasia Panduan 1485Townes-Brocks Syndrome (nama medis internasional)Townes-Brocks Syndrome Panduan 1486Catecholaminergic polymorphic ventricular tachycardia (nama medis internasional)Catecholaminergic polymorphic ventricular tachycardia Panduan 1487Dystonia 6 (nama medis internasional)Dystonia 6 Panduan 1488Uncombable hair syndrome (nama medis internasional)Uncombable hair syndrome Panduan 1489ProakselerinFactor V deficiency Panduan 1490Complement factor I deficiency (nama medis internasional)Complement factor I deficiency Panduan 1491Bernard-Soulier syndrome (nama medis internasional)Bernard-Soulier syndrome Panduan 1492Familial atrial fibrillation (nama medis internasional)Familial atrial fibrillation Panduan 1493Autosomal dominant congenital stationary night blindness (nama medis internasional)Autosomal dominant congenital stationary night blindness Panduan 1494Prothrombin deficiency (nama medis internasional)Prothrombin deficiency Panduan 1495Trisomy 13 (nama medis internasional)Trisomy 13 Panduan 1496Greig cephalopolysyndactyly syndrome (nama medis internasional)Greig cephalopolysyndactyly syndrome Panduan 1497Juvenile primary lateral sclerosis (nama medis internasional)Juvenile primary lateral sclerosis Panduan 1498UV-sensitive syndrome (nama medis internasional)UV-sensitive syndrome Panduan 1499Aminoacylase 1 deficiency (nama medis internasional)Aminoacylase 1 deficiency Panduan 1500Spinocerebellar ataxia type 6 (nama medis internasional)Spinocerebellar ataxia type 6 Panduan 1501Familial male-limited precocious puberty (nama medis internasional)Familial male-limited precocious puberty Panduan 1502Glycoprotein VI deficiency (nama medis internasional)Glycoprotein VI deficiency Panduan 1503PPM-X syndrome (nama medis internasional)PPM-X syndrome Panduan 1504Spondyloperipheral dysplasia (nama medis internasional)Spondyloperipheral dysplasia Panduan 1505Juvenile primary osteoporosis (nama medis internasional)Juvenile primary osteoporosis Panduan 1506Arginine:glycine amidinotransferase deficiency (nama medis internasional)Arginine:glycine amidinotransferase deficiency Panduan 1507Histidinemia (nama medis internasional)Histidinemia Panduan 1508Steatocystoma multiplex (nama medis internasional)Steatocystoma multiplex Panduan 1509Sindrom cri-du-chatCri-du-chat syndrome Panduan 1510Fish-eye disease (nama medis internasional)Fish-eye disease Panduan 1511Peeling skin syndrome 2 (nama medis internasional)Peeling skin syndrome 2 Panduan 1512Microcephaly, seizures, and developmental delay (nama medis internasional)Microcephaly, seizures, and developmental delay Panduan 1513Nonsyndromic congenital nail disorder 10 (nama medis internasional)Nonsyndromic congenital nail disorder 10 Panduan 1514Penyakit pengeluaran bau ikanTrimethylaminuria Panduan 1515Neutral lipid storage disease with myopathy (nama medis internasional)Neutral lipid storage disease with myopathy Panduan 1516Warsaw breakage syndrome (nama medis internasional)Warsaw breakage syndrome Panduan 1517Anonychia congenita (nama medis internasional)Anonychia congenita Panduan 1518Palmoplantar keratoderma with deafness (nama medis internasional)Palmoplantar keratoderma with deafness Panduan 1519Cole disease (nama medis internasional)Cole disease Panduan 1520Isolated hyperCKemia (nama medis internasional)Isolated hyperCKemia Panduan 1521X-linked severe combined immunodeficiency (nama medis internasional)X-linked severe combined immunodeficiency Panduan 1522Platyspondylic dysplasia, Torrance type (nama medis internasional)Platyspondylic dysplasia, Torrance type Panduan 1523Globozoospermia (nama medis internasional)Globozoospermia Panduan 1524Malonyl-CoA decarboxylase deficiency (nama medis internasional)Malonyl-CoA decarboxylase deficiency Panduan 1525Deafness-infertility syndrome (nama medis internasional)Deafness-infertility syndrome Panduan 1526North American Indian childhood cirrhosis (nama medis internasional)North American Indian childhood cirrhosis Panduan 152722q11.2 duplication (nama medis internasional)22q11.2 duplication Panduan 1528AneurismaAneurysms Panduan 1529Arteriovenous Malformations (nama medis internasional)Arteriovenous Malformations Panduan 1530Carotid Artery Disease (nama medis internasional)Carotid Artery Disease Panduan 1531EndokarditisEndocarditis Panduan 1532Pericardial Disorders (nama medis internasional)Pericardial Disorders Panduan 1533ShockShock Panduan 1534Penyakit pembuluh darahVascular Diseases Panduan 1535TrombosisBlood Clots Panduan 1536Penyakit AddisonAddison Disease Panduan 1537Adrenal Gland Disorders (nama medis internasional)Adrenal Gland Disorders Panduan 1538Diabetes insipidusDiabetes Insipidus Panduan 1539HiperglisemiaHyperglycemia Panduan 1540Pheochromocytoma (nama medis internasional)Pheochromocytoma Panduan 1541Pituitary Disorders (nama medis internasional)Pituitary Disorders Panduan 1542Pituitary Tumors (nama medis internasional)Pituitary Tumors Panduan 1543Breathing Problems (nama medis internasional)Breathing Problems Panduan 1544Inhalation Injuries (nama medis internasional)Inhalation Injuries Panduan 1545Respiratory Failure (nama medis internasional)Respiratory Failure Panduan 1546Tracheal Disorders (nama medis internasional)Tracheal Disorders Panduan 1547Adhesions (nama medis internasional)Adhesions Panduan 1548Anal Disorders (nama medis internasional)Anal Disorders Panduan 1549Bowel Incontinence (nama medis internasional)Bowel Incontinence Panduan 1550Colonic Polyps (nama medis internasional)Colonic Polyps Panduan 1551Eosinophilic Esophagitis (nama medis internasional)Eosinophilic Esophagitis Panduan 1552Esophagus Disorders (nama medis internasional)Esophagus Disorders Panduan 1553FistulaFistulas Panduan 1554Gastrointestinal Bleeding (nama medis internasional)Gastrointestinal Bleeding Panduan 1555Gluten Sensitivity (nama medis internasional)Gluten Sensitivity Panduan 1556Hernia hiatusHiatal Hernia Panduan 1557Sumbatan ususIntestinal Obstruction Panduan 1558Malabsorption Syndromes (nama medis internasional)Malabsorption Syndromes Panduan 1559Bile Duct Diseases (nama medis internasional)Bile Duct Diseases Panduan 1560Gallbladder Diseases (nama medis internasional)Gallbladder Diseases Panduan 1561Pancreatic Diseases (nama medis internasional)Pancreatic Diseases Panduan 1562Bladder Diseases (nama medis internasional)Bladder Diseases Panduan 1563Gagal ginjalKidney Failure Panduan 1564Ureteral Disorders (nama medis internasional)Ureteral Disorders Panduan 1565Urethral Disorders (nama medis internasional)Urethral Disorders Panduan 1566Acoustic Neuroma (nama medis internasional)Acoustic Neuroma Panduan 1567Acute Flaccid Myelitis (nama medis internasional)Acute Flaccid Myelitis Panduan 1568AfasiaAphasia Panduan 1569Brachial Plexus Injuries (nama medis internasional)Brachial Plexus Injuries Panduan 1570Malformasi ChiariChiari Malformation Panduan 1571KomaComa Panduan 1572DemensiaDementia Panduan 1573PusingDizziness and Vertigo Panduan 1574Dystonia (nama medis internasional)Dystonia Panduan 1575Radang otakEncephalitis Panduan 1576Mild Cognitive Impairment (nama medis internasional)Mild Cognitive Impairment Panduan 1577Movement Disorders (nama medis internasional)Movement Disorders Panduan 1578KelumpuhanParalysis Panduan 1579SawanSeizures Panduan 1580Spinal Cord Injuries (nama medis internasional)Spinal Cord Injuries Panduan 1581Cedera otak traumatisTraumatic Brain Injury Panduan 1582Compulsive Gambling (nama medis internasional)Compulsive Gambling Panduan 1583Kesulitan belajarLearning Disabilities Panduan 1584Gangguan moodMood Disorders Panduan 1585FobiaPhobias Panduan 1586Psychotic Disorders (nama medis internasional)Psychotic Disorders Panduan 1587Pencederaan diriSelf-Harm Panduan 1588ArtritisArthritis Panduan 1589Bone Diseases (nama medis internasional)Bone Diseases Panduan 1590Bone Infections (nama medis internasional)Bone Infections Panduan 1591Cartilage Disorders (nama medis internasional)Cartilage Disorders Panduan 1592Saraf kejepitHerniated Disk Panduan 1593Infectious Arthritis (nama medis internasional)Infectious Arthritis Panduan 1594Joint Disorders (nama medis internasional)Joint Disorders Panduan 1595Miositis (Myositis)Myositis Panduan 1596Osteonecrosis (nama medis internasional)Osteonecrosis Panduan 1597Rakitis (Rickets)Rickets Panduan 1598Ankle Injuries and Disorders (nama medis internasional)Ankle Injuries and Disorders Panduan 1599Back Injuries (nama medis internasional)Back Injuries Panduan 1600Foot Injuries and Disorders (nama medis internasional)Foot Injuries and Disorders Panduan 1601Knee Injuries and Disorders (nama medis internasional)Knee Injuries and Disorders Panduan 1602Sprains and Strains (nama medis internasional)Sprains and Strains Panduan 1603Tendinitis (nama medis internasional)Tendinitis Panduan 1604Wrist Injuries and Disorders (nama medis internasional)Wrist Injuries and Disorders Panduan 1605Kutu air (tinea pedis)Athlete's Foot Panduan 1606Birthmarks (nama medis internasional)Birthmarks Panduan 1607LepuhBlisters Panduan 1608Corns and Calluses (nama medis internasional)Corns and Calluses Panduan 1609Hair Loss (nama medis internasional)Hair Loss Panduan 1610GatalItching Panduan 1611Pressure Sores (nama medis internasional)Pressure Sores Panduan 1612Skin Infections (nama medis internasional)Skin Infections Panduan 1613Tinea Infections (nama medis internasional)Tinea Infections Panduan 1614KutilWarts Panduan 1615Flu burungBird Flu Panduan 1616C. diff Infections (nama medis internasional)C. diff Infections Panduan 1617KampilobakteriosisCampylobacter Infections Panduan 1618ChikungunyaChikungunya Panduan 1619Cytomegalovirus Infections (nama medis internasional)Cytomegalovirus Infections Panduan 1620E. coli Infections (nama medis internasional)E. coli Infections Panduan 1621EbolaEbola Panduan 1622Giardia Infections (nama medis internasional)Giardia Infections Panduan 1623Kencing nanahGonorrhea Panduan 1624Virus influenza A subtipe H1N1H1N1 Flu (Swine Flu) Panduan 1625Listeria Infections (nama medis internasional)Listeria Infections Panduan 1626MalariaMalaria Panduan 1627MeningitisMeningitis Panduan 1628Staphylococcus aureus resisten-metisilinMRSA Panduan 1629Norovirus Infections (nama medis internasional)Norovirus Infections Panduan 1630Pneumonia pneumocystisPneumocystis Infections Panduan 1631Rotavirus Infections (nama medis internasional)Rotavirus Infections Panduan 1632SalmonelosisSalmonella Infections Panduan 1633Valley Fever (nama medis internasional)Valley Fever Panduan 1634Virus West NileWest Nile Virus Panduan 1635Yeast Infections (nama medis internasional)Yeast Infections Panduan 1636Virus ZikaZika Virus Panduan 1637Cervix Disorders (nama medis internasional)Cervix Disorders Panduan 1638Ovarian Disorders (nama medis internasional)Ovarian Disorders Panduan 1639Disfungsi dasar panggulPelvic Floor Disorders Panduan 1640Uterine Diseases (nama medis internasional)Uterine Diseases Panduan 1641Vaginal Diseases (nama medis internasional)Vaginal Diseases Panduan 1642Penis Disorders (nama medis internasional)Penis Disorders Panduan 1643Prostate Diseases (nama medis internasional)Prostate Diseases Panduan 1644Testicular Disorders (nama medis internasional)Testicular Disorders Panduan 1645Acute Lymphocytic Leukemia (nama medis internasional)Acute Lymphocytic Leukemia Panduan 1646Leukemia mieloid akutAcute Myeloid Leukemia Panduan 1647Adrenal Gland Cancer (nama medis internasional)Adrenal Gland Cancer Panduan 1648Kanker anusAnal Cancer Panduan 1649Tumor otakBrain Tumors Panduan 1650Carcinoid Tumors (nama medis internasional)Carcinoid Tumors Panduan 1651Chronic Lymphocytic Leukemia (nama medis internasional)Chronic Lymphocytic Leukemia Panduan 1652Kanker kandung empeduGallbladder Cancer Panduan 1653Intestinal Cancer (nama medis internasional)Intestinal Cancer Panduan 1654Sarkoma KaposiKaposi Sarcoma Panduan 1655MesoteliomaMesothelioma Panduan 1656Kanker mulutOral Cancer Panduan 1657Kanker kulitSkin Cancer Panduan 1658Soft Tissue Sarcoma (nama medis internasional)Soft Tissue Sarcoma Panduan 1659Kanker testisTesticular Cancer Panduan 1660Thymus Cancer (nama medis internasional)Thymus Cancer Panduan 1661Kanker vaginaVaginal Cancer Panduan 1662Kanker vulvaVulvar Cancer Panduan 1663AmblyopioAmblyopia Panduan 1664Corneal Disorders (nama medis internasional)Corneal Disorders Panduan 1665Eye Infections (nama medis internasional)Eye Infections Panduan 1666Eye Injuries (nama medis internasional)Eye Injuries Panduan 1667Eye Movement Disorders (nama medis internasional)Eye Movement Disorders Panduan 1668Optic Nerve Disorders (nama medis internasional)Optic Nerve Disorders Panduan 1669Retinal Disorders (nama medis internasional)Retinal Disorders Panduan 1670HalitosisBad Breath Panduan 1671Balance Problems (nama medis internasional)Balance Problems Panduan 1672BarotraumaBarotrauma Panduan 1673Ear Disorders (nama medis internasional)Ear Disorders Panduan 1674Mouth Disorders (nama medis internasional)Mouth Disorders Panduan 1675Nasal Cancer (nama medis internasional)Nasal Cancer Panduan 1676Salivary Gland Disorders (nama medis internasional)Salivary Gland Disorders Panduan 1677Taste and Smell Disorders (nama medis internasional)Taste and Smell Disorders Panduan 1678Throat Disorders (nama medis internasional)Throat Disorders Panduan 1679Tooth Disorders (nama medis internasional)Tooth Disorders Panduan 1680Voice Disorders (nama medis internasional)Voice Disorders Panduan 1681Penyakit autoimunAutoimmune Diseases Panduan 1682Bleeding Disorders (nama medis internasional)Bleeding Disorders Panduan 1683Bone Marrow Diseases (nama medis internasional)Bone Marrow Diseases Panduan 1684Eosinophilic Disorders (nama medis internasional)Eosinophilic Disorders Panduan 1685Latex Allergy (nama medis internasional)Latex Allergy Panduan 1686Lymphatic Diseases (nama medis internasional)Lymphatic Diseases Panduan 1687LimfedemaLymphedema Panduan 1688Platelet Disorders (nama medis internasional)Platelet Disorders Panduan 1689Spleen Diseases (nama medis internasional)Spleen Diseases Panduan