- Search Result -

754 record(s) found

[A] [B] [C] [D] [E] [F] [G] [H] [I] [J] [K] [L] [M] [N] [O] [P] [Q] [R] [S] [T] [U] [V] [W] [X] [Y] [Z]

46,XY complete gonadal dysgenesis  46,XY complete gonadal dysgenesis

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency  46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

47,XYY 증후군  47,XYY syndrome

아르스코그 증후군  Aarskog syndrome

연골무발생증  Achondrogenesis

연골무형성증  Achondroplasia

Acquired aplastic anemia  Acquired aplastic anemia

뾰족머리손발가락붙음증  Acrocephalosyndactyly

Acrodysostosis  Acrodysostosis

Acrofacial dysostosis, Nager type  Acrofacial dysostosis, Nager type

선단노화증  Acrogeria

말단거대증  Acromegaly

Acromesomelic dysplasia  Acromesomelic dysplasia

Acroosteolysis dominant type  Acroosteolysis dominant type

급성 간헐 포르피린증  Acute intermittent porphyria

급성 횡단 척수염  Acute transverse myelitis

Adams-Oliver 증후군  Adams-Oliver syndrome

아디슨 병  Addison`s disease

Adult polyglucosan body disease  Adult polyglucosan body disease

연령관련황반변성  Age-related macular degeneration

무설증  Aglossia

에카르디 증후군  Aicardi syndrome

Alagille 증후군  Alagille syndrome

알베르스-쇤베르그 증후군  Albers-Schonberg syndrome

Albright hereditary osteodystrophy  Albright hereditary osteodystrophy

알브라이트(-맥쿤)(-스턴버그) 증후군  Albright(-McCune)(-Sternberg) syndrome

알렉산더 병  Alexander disease

알캅톤뇨증  Alkaptonuria

Alpers 증후군  Alpers syndrome

Alpha thalassemia  Alpha thalassemia

알포트 증후군  Alport syndrome

알스트룀 증후군  Alström syndrome

Alternating hemiplegia of childhood  Alternating hemiplegia of childhood

Amniotic bands  Amniotic bands

아밀로이드증  Amyloidosis

근육위축가쪽경화증  Amyotrophic lateral sclerosis

무뇌증  Anencephaly

엔젤만 증후군  Angelman syndrome

무홍채증  Aniridia

강직성 척추염  Ankylosing spondylitis

무치아(증)  Anodontia

항문직장 기형  Anorectal malformation

항인지질 증후군  Antiphospholipid syndrome

앤틀리-빅슬러 증후군  Antley-Bixler syndrome

Aortic aneurysm syndrome, Loeys-Dietz type  Aortic aneurysm syndrome, Loeys-Dietz type

대동맥 활 증후군(다까야수)  Aortic arch syndrome(Takayasu)

아페르 증후군  Apert syndrome

Aplasia cutis congenita - intestinal lymphangiectasia  Aplasia cutis congenita - intestinal lymphangiectasia

지주막염  Arachnoiditis

아놀드-키아리 증후군  Arnold-Chiari syndrome

동정맥 기형  Arteriovenous malformation

Arthrogryposis - renal dysfunction - cholestasis  Arthrogryposis - renal dysfunction - cholestasis

선천 다발관절 굽음증  Arthrogryposis multiplex congenita

아스퍼거 증후군  Asperger syndrome

질식성 가슴 형성이상[쥐느]  Asphyxiating thoracic dysplasia [Jeune]

별아교세포종  Astrocytoma

모세혈관 확장 성 운동실조  ataxia-telangiectasia

Atresia of small intestine  Atresia of small intestine

Atypical Rett syndrome  Atypical Rett syndrome

Autoimmune hemolytic anemia, cold type  Autoimmune hemolytic anemia, cold type

Autosomal dominant Charcot-Marie-Tooth disease type 2C  Autosomal dominant Charcot-Marie-Tooth disease type 2C

Autosomal dominant congenital benign spinal muscular atrophy  Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant medullary cystic kidney disease with or without hyperuricemia  Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Autosomal dominant optic atrophy, classic type  Autosomal dominant optic atrophy, classic type

상염색체 우성 다낭성 신 증후군  Autosomal dominant polycystic kidney disease

Autosomal recessive hyper IgE 증후군  Autosomal recessive hyper IgE syndrome

상염색체 열성 다낭성 신 증후군  Autosomal recessive polycystic kidney disease

Autosomal recessive spondylocostal dysostosis  Autosomal recessive spondylocostal dysostosis

Balò concentric sclerosis  Balò concentric sclerosis

Bardet-Biedl 증후군  Bardet-Biedl syndrome

바레트 식도  Barrett esophagus

바터 증후군  Bartter syndrome

Beals 증후군  Beals syndrome

베크위드-위드만 증후군  Beckwith-Wiedemann syndrome

베제트병  Behcet’s disease

베스트 병  Best disease

중증성 지중해 빈혈  Beta-thalassemia major

Biermer disease  Biermer disease

Bilateral striopallidodentate calcinosis  Bilateral striopallidodentate calcinosis

담도 폐쇄증  Biliary atresia

빈스방거 병  Binswanger disease

Birt-Hogg-Dube 증후군  Birt-Hogg-Dube syndrome

블랙판 다이아몬드 빈혈  Blackfan-Diamond anemia

방광 외반증  Bladder exstrophy

Blepharophimosis - epicanthus inversus - ptosis  Blepharophimosis - epicanthus inversus - ptosis

안검연축  Blepharospasm

Blepharospasm - oromandibular dystonia  Blepharospasm - oromandibular dystonia

청색 고무 수포 모반  Blue rubber bleb nevus

Brachyolmia type 3  Brachyolmia type 3

아가미귀콩팥증후군  Branchio-oto-renal syndrome

기관지폐형성 이상  Bronchopulmonary dysplasia

Brugada 증후군  Brugada syndrome

버드-키아리 증후군  Budd-Chiari syndrome

버거 병  Buerger's disease

수포성 유사 천포창  Bullous pemphigoid

CADASIL 증후군  CADASIL syndrome

Caffey disease  Caffey disease

Campomelic dysplasia  Campomelic dysplasia

카무라티-엥겔만 병  Camurati-Engelmann disease

카나반 병  Canavan disease

Cantrell pentalogy  Cantrell pentalogy

Carbamoylphosphate synthetase deficiency  Carbamoylphosphate synthetase deficiency

근육형 팔미틸트란스퍼레이스 결핍증  Carnitine palmitoyl transferase II deficiency

Carnitine uptake deficiency  Carnitine uptake deficiency

카롤리 병  Caroli disease

연골-털 형성 저하증  Cartilage-hair hypoplasia

Castleman disease  Castleman disease

고양이 눈 증후군  Cat-eye syndrome

Catel-Manzke 증후군  Catel-Manzke syndrome

Caudal regression sequence  Caudal regression sequence

만성 소화 장애증  Celiac disease

중심핵 병  Central core disease

Central diabetes insipidus  Central diabetes insipidus

중심핵 근병증  centronuclear myopathy

Cerebral cavernous malformations  Cerebral cavernous malformations

Cervical dystonia  Cervical dystonia

챤들러 증후군  Chandler syndrome

샤르코-마리-투스 병  Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease type 4E  Charcot-Marie-Tooth disease type 4E

CHARGE 증후군  CHARGE syndrome

체디악-히가시 증후군  Chediak-Higashi’s syndrome

점상 연골 형성이상  Chondrodysplasia punctata

범맥락막위축  Choroideremia

만성 자가면역성 간염  Chronic autoimmune hepatitis

만성 피로 증후군  Chronic fatigue syndrome

만성 육아종 병  Chronic granulomatous disease, CGD

Chronic hiccup  Chronic hiccup

Chronic inflammatory demyelinating polyneuropathy  Chronic inflammatory demyelinating polyneuropathy

만성 골수증식성 질환  Chronic myeloproliferative disease

처그-스트라우스 증후군  Churg-Strauss Syndrome

흉터 유사 천포창  Cicatricial pemphigoid

시트룰린혈증  Citrullinemia

전형적 페닐케톤뇨증  Classical phenylketonuria

구순/구개열  Cleft lip/palate

Cleidocranial dysplasia  Cleidocranial dysplasia

군발 두통  Cluster headache

코우츠병  Coats disease

코케인 증후군  Cockayne syndrome

코핀-로리 증후군  Coffin-Lowry syndrome

COFS 증후군  COFS syndrome

코간-리스 증후군  Cogan-Reese syndrome

코헨 증후군  Cohen syndrome

Collagenous colitis  Collagenous colitis

공통가변성 면역결핍증  Common variable immunodeficiency

복합부위통증증후군(1형)  Complex regional pain syndrome type 1

추체간체 이영양(증)  Cone rod dystrophy

선천 부신 증식  Congenital adrenal hyperplasia

21-수산기 효소결핍증  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form

선천 수포성 비늘증성 홍색피부증  Congenital bullous ichthyosiform erythroderma

선천성 무호흡 증후군  Congenital central alveolar hypoventilation

선천 횡격막 탈장  Congenital diaphragmatic hernia

선천성 적혈구 조혈성 포르피린 증  Congenital erythropoietic porphyria

Congenital factor XII deficiency  Congenital factor XII deficiency

Congenital factor XIII deficiency  Congenital factor XIII deficiency

선천성 섬유형 불균형 근병증  Congenital fiber-type disproportion myopathy

Congenital fibrosis of extraocular muscles  Congenital fibrosis of extraocular muscles

선천성 심장 차단  Congenital heart block

선천 갑상샘 기능저하증  Congenital hypothyroidism

Congenital isolated ACTH deficiency  Congenital isolated ACTH deficiency

선천 레베르 흑암시  Congenital Leber amaurosis

Congenital lobar emphysema  Congenital lobar emphysema

선천 근육영양장애  Congenital muscular dystrophy

Congenital muscular dystrophy, Fukuyama type  Congenital muscular dystrophy, Fukuyama type

선천성 근긴장증  Congenital myotonia

선천성 신증후군  Congenital nephrotic syndrome, Finnish type

Congenital pulmonary lymphangiectasia  Congenital pulmonary lymphangiectasia

선천성 폐정맥 환류 이상  Congenital pulmonary venous return anomaly

Congenital vitamin K-dependent coagulation factors deficiency  Congenital vitamin K-dependent coagulation factors deficiency

Conn adenoma  Conn adenoma

Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder  Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder

각막 이영양증  Corneal dystrophy

Corticobasal degeneration  Corticobasal degeneration

Costello 증후군  Costello syndrome

코우텐 증후군  Cowden syndrome

Craniofrontonasal dysplasia  Craniofrontonasal dysplasia

두개골 유합증  Craniosynostosis

크로이츠펠트-야콥 병  Creutzfeldt-Jakob disease

크리-두-샤 증후군  Cri du chat syndrome

크리글러-나자르 증후군  Crigler-Najjar syndrome

크론 병  Crohn disease

크론크하이트-캐나다 증후군  Cronkhite-Canada syndrome

크루종 병  Crouzon`s disease

Cryptogenic organizing pneumonia  Cryptogenic organizing pneumonia

쿠싱 증후군  Cushing syndrome

피부 이완증  Cutis laxa

선천 모세혈관확장 대리석 피부증  Cutis marmorata telangiectatica congenita

주기 호중구 감소증  Cyclic neutropenia

낭성 섬유증  Cystic fibrosis

낭 림프관종  Cystic hygroma

시스틴 축적증  Cystinosis

시스틴요증  Cystinuria

Cytomegalic congenital adrenal hypoplasia  Cytomegalic congenital adrenal hypoplasia

댄디-워커 증후군  Dandy-Walker syndrome

다리에 병  Darier disease

드 랑즈 증후군  De Lange syndrome

데제린-소타스 증후군  Dejerine-Sottas syndrome

Dent 증후군  Dent's disease (syndrome)

Dentatorubral-pallidoluysian atrophy  Dentatorubral-pallidoluysian atrophy

Dentin dysplasia type I  Dentin dysplasia type I

Dentinogenesis imperfecta type 3  Dentinogenesis imperfecta type 3

데니스-드라쉬 증후군  Denys-Drash Syndrome

헤르페스 모양 피부염  Dermatitis herpetiformis

피부 근육 염  Dermatomyositis

Desmoid disease  Desmoid disease

디 죠지 증후군  Di George`s syndrome

이영양성 형성이상  Diastrophic dysplasia

간뇌 증후군  Diencephalic syndrome

원위성 근병증  Distal myopathy

Distal myopathy, Nonaka type  Distal myopathy, Nonaka type

원위부 신세뇨관 산증  Distal renal tubular acidosis

Distal trisomy 10q  Distal trisomy 10q

Dopa-responsive dystonia  Dopa-responsive dystonia

다운 증후군  Down syndrome

Dravet syndrome  Dravet syndrome

듀안 증후군  Duane syndrome

듀빈-존슨 증후군  Dubin-Johnson syndrome

두보위쯔 증후군  Dubowitz syndrome

Duchenne형 근육퇴행위축, Becker형 근육퇴행위축  Duchenne and Becker muscular dystrophy

십이지장 폐쇄증  Duodenal atresia

Dyggve-Melchior-Clausen disease  Dyggve-Melchior-Clausen disease

선천성 각화부전증  Dyskeratosis congenita

Dysplasia epiphysealis hemimelica  Dysplasia epiphysealis hemimelica

일스 병  Eales disease

Early onset torsion dystonia  Early onset torsion dystonia

Early-onset autosomal dominant Alzheimer disease  Early-onset autosomal dominant Alzheimer disease

18번 삼염색체증, 전위  Edwards’s syndrome

엘러스-단로스 증후군  Ehlers Danlos Syndrome

Ehlers-Danlos syndrome, vascular type  Ehlers-Danlos syndrome, vascular type

아이젠맹거 증후군  Eisenmenger syndrome

엘리스-반 크레벨트 증후군  Ellis-van Creveld syndrome

에머리-드레이푸스 근 이영양증  Emery-Dreifuss muscular dystrophy

뇌류  Encephalocele

포도당 수송자-1 결핍 증후군  Encephalopathy due to GLUT1 deficiency

Endosteal hyperosteosis,worth type  Endosteal hyperosteosis,worth type

Eosinophilic esophagitis  Eosinophilic esophagitis

호산성 근막염  Eosinophilic fasciitis

표피 모반 증후군  Epidermal nevus syndrome

이영양성 표피 수포증  Epidermolysis bullosa dystrophica

엡스타인 증후군  Epstein syndrome

Erdheim-Chester disease  Erdheim-Chester disease

Erythroderma desquamativa  Erythroderma desquamativa

홍백사지통증  Erythromelalgia

적혈구 형성 프로토포르피린증  Erythropoietic protoporphyria

Escobar 증후군  Escobar syndrome

식도 폐쇄증  Esophageal atresia

본태성 홍채 위축  Essential iris atrophy

Essential thrombocythemia  Essential thrombocythemia

에반스 증후군  Evans syndrome

방광외번요도상역복합  Exstrophy-epispadias complex

파프리(-안더슨)병  Fabry`s(-Anderson) disease

얼굴어깨위팔형 근육퇴행위축  Facioscapulohumeral dystrophy

가족성 대장 폴립증  Familial adenomatous polyposis

Familial dilated cardiomyopathy  Familial dilated cardiomyopathy

Familial dysalbuminemic hyperthyroxinemia  Familial dysalbuminemic hyperthyroxinemia

가족성 자율신경 실조증  Familial dysautonomia

Familial ectopic ossification  Familial ectopic ossification

가족성 혈구탐식성 림프조직구증  Familial hemophagocytic lymphohistiocytosis

가족성 과콜레스테롤혈증  Familial hypercholesterolemia

가족성 특발성 스테로이드-내성 콩팥증후군  Familial idiopathic steroid-resistant nephrotic syndrome

Familial juvenile hyperuricemic nephropathy  Familial juvenile hyperuricemic nephropathy

Familial mitral valve prolapse  Familial mitral valve prolapse

Familial or sporadic hemiplegic migraine  Familial or sporadic hemiplegic migraine

Familial paroxysmal ataxia  Familial paroxysmal ataxia

판코니(-드토니)(-드브레)증후군  Fanconi (-de Toni)(-Debre) syndrome

판코니 빈혈  Fanconi anemia

파버지방육아종증  Farber lipogranulomatosis

펙트너 증후군  Fechtner syndrome

펠티 증후군  Felty syndrome

Female restricted epilepsy with intellectual deficit  Female restricted epilepsy with intellectual deficit

태아 알코올 증후군  Fetal alcohol syndrome

태아 하이단토인 증후군  Fetal hydantoin syndrome

Fetal valproate 증후군  Fetal valproate syndrome

진행성 골화성 섬유성 골이형성증  Fibrodysplasia ossificans progressiva

섬유 근육통  Fibromyalgia

국소 진피 형성 저하증  Focal dermal hypoplasia

여린엑스 증후군  Fragile X syndrome

프란체스쉐티 증후군  Franceschetti syndrome

프레이저 증후군  Frasier syndrome

프리드라이히 운동실조(증)  Friedreich ataxia

Friedreich-like ataxia with selective vitamin E deficiency  Friedreich-like ataxia with selective vitamin E deficiency

전두측두엽 치매  Frontotemporal dementia

프락토스불내성  Fructose intolerance

Fryns 증후군  Fryns syndrome

갈락토오스혈증  Galactosemia

Galloway-Mowat 증후군  Galloway-Mowat syndrome

가드너 증후군  Gardner syndrome

위벽파열  Gastroschisis

고세 병  Gaucher`s disease

Gerstmann 증후군  Gerstmann syndrome

거대 세포 동맥염  Giant cell arteritis

질베르 증후군  Gilbert syndrome

기텔만 증후군  Gitelman syndrome

글란츠만 혈소판 기능 저하증  Glanzmann thrombasthenia

글루코스-6-인산디하이 드로저네이스 결핍(증)  Glucose-6-phosphate-dehydrogenase deficiency

글루코오스-갈락토스 흡수장애  Glucose-galactose malabsorption

Glutaric acidemia type 2  Glutaric acidemia type 2

글루타린산뇨증  Glutaryl-CoA dehydrogenase deficiency

Glycogen storage disease due to LAMP-2 deficiency  Glycogen storage disease due to LAMP-2 deficiency

제 1형 당원 축적 병  Glycogen storage disease type 1

제 II형 당원 축적 병  Glycogen storage disease type 2

제 III형 당원 축적 병  Glycogen storage disease type 3

제 IV형 당원 축적 병  Glycogen storage disease type 4

제 V형 당원 축적 병  Glycogen storage disease type 5

제 VI형 당원 축적 병  Glycogen storage disease type 6

제 VII형 당원 축적병  Glycogen storage disease type 7

GM1-강글리오사이드증  GM1-gangliosidosis

골덴하 증후군  Goldenhar syndrome

굿파스튜어 증후군  Goodpasture`s syndrome

Gordon 증후군  Gordon syndrome

Gorham-Stout disease  Gorham-Stout disease

Greig cephalopolysyndactyly 증후군  Greig cephalopolysyndactyly syndrome

길랑-바레 증후군  Guillain-Barre syndrome

Gusher 증후군  Gusher syndrome

Hallermann-Streiff-François 증후군  Hallermann-Streiff-François syndrome

하르트누프 병  Hartnup`s disease

Hashimoto struma  Hashimoto struma

Hemimegalencephaly  Hemimegalencephaly

Hemochromatosis type 1  Hemochromatosis type 1

Hemolytic anemia due to red cell pyruvate kinase deficiency  Hemolytic anemia due to red cell pyruvate kinase deficiency

용혈 요독 증후군  Hemolytic uremic syndrome (typical)

혈우병  Hemophilia

혈우병 A  Hemophilia A

혈우병 B  Hemophilia B

유전성 혈관부종  Hereditary angioedema

Hereditary cerebral cavernous malformation  Hereditary cerebral cavernous malformation

유전 코르로포르피린증  Hereditary coproporphyria

유전성 표피 수포증  Hereditary epidermolysis bullosa

Hereditary episodic ataxia  Hereditary episodic ataxia

유전성 출혈성 모세혈관 확장(오슬러-웨버-렌두씨 병)  Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease)

Hereditary hypercarotenemia and vitamin A deficiency  Hereditary hypercarotenemia and vitamin A deficiency

유전성 저 감마글로불린혈증  Hereditary hypogammaglobulinemia

Hereditary inclusion body myositis  Hereditary inclusion body myositis

Hereditary neuropathy with liability to pressure palsies  Hereditary neuropathy with liability to pressure palsies

Hereditary Parkinson disease  Hereditary Parkinson disease

Hereditary pheochromocytoma-paraganglioma  Hereditary pheochromocytoma-paraganglioma

Hereditary sensory and autonomic neuropathy type 1  Hereditary sensory and autonomic neuropathy type 1

Hereditary sensory and autonomic neuropathy type 2  Hereditary sensory and autonomic neuropathy type 2

Hereditary sensory and autonomic neuropathy, type 4  Hereditary sensory and autonomic neuropathy, type 4

유전성 강직성 대 마비  Hereditary spastic paraplegia

Hereditary thrombophilia due to congenital antithrombin deficiency  Hereditary thrombophilia due to congenital antithrombin deficiency

Hereditary thrombophilia due to congenital protein C deficiency  Hereditary thrombophilia due to congenital protein C deficiency

Hereditary thrombophilia due to congenital protein S deficiency  Hereditary thrombophilia due to congenital protein S deficiency

Hermansky-Pudlak syndrome with pulmonary fibrosis  Hermansky-Pudlak syndrome with pulmonary fibrosis

히르슈슈프룽 병  Hirschsprung disease

완전전뇌증  Holoprosencephaly

Holt-Oram 증후군  Holt-Oram syndrome

호모시스틴뇨증  Homocystinuria

헌팅톤병  Huntington disease

Huntington disease-like 2  Huntington disease-like 2

무뇌 수두증  Hydranencephaly

고 면역 글로불린 E 증후군  Hyper IgE Syndrome

Hyper-IgM syndrome type 1  Hyper-IgM syndrome type 1

Hyperkalemic periodic paralysis  Hyperkalemic periodic paralysis

고단백혈증 3형  Hyperlipidemia type 3

고단백혈증 IV 형  Hyperlipoproteinemia type 4

고옥살산뇨증  Hyperoxaluria

고페닐알라닌혈증  Hyperphenylalaninemia

연골형성저하증  Hypochondrogenesis

연골 발육부전  Hypochondroplasia

발한저하성 외배엽 형성 이상  Hypohidrotic ectodermal dysplasia

Hypokalemic periodic paralysis  Hypokalemic periodic paralysis

저인산증  Hypophosphatasia

좌심 형성 부전 증후군  Hypoplastic left heart syndrome

IBIDS 증후군  IBIDS syndrome

Ichthyosis congenita, harlequin type  Ichthyosis congenita, harlequin type

Idiopathic eosinophilic pneumonia  Idiopathic eosinophilic pneumonia

Idiopathic facial palsy  Idiopathic facial palsy

Idiopathic intracranial hypertension  Idiopathic intracranial hypertension

특발성 폐 섬유증  Idiopathic pulmonary fibrosis

IgA 신 병증  IgA nephropathy

특발저혈소판자색반병  Immune thrombocytopenic purpura

Immunodeficiency due to absence of thymus  Immunodeficiency due to absence of thymus

항이뇨 호르몬 분비 이상 증후군  Inappropriate antidiuretic hormone secretion syndrome

색소실조증  Incontinentia pigmenti

Infant acute respiratory distress 증후군  Infant acute respiratory distress syndrome

영아 근섬유종증  Infantile myofibromatosis

영아 신경축삭성 이영양증  Infantile neuroaxonal dystrophy

Infantile neuronal ceroid lipofuscinosis  Infantile neuronal ceroid lipofuscinosis

사이질성 방광염  Interstitial cystitis

Isaac's 증후군  Isaac's syndrome

Isolated corpus callosum agenesis  Isolated corpus callosum agenesis

Isolated NADH-CoQ reductase deficiency  Isolated NADH-CoQ reductase deficiency

아이소발레르산혈증  Isovaleric acidemia

Ito hypomelanosis  Ito hypomelanosis

Ivemark 증후군  Ivemark syndrome

Jervell and Lange-Nielsen 증후군  Jervell and Lange-Nielsen syndrome

Jessner's lymphocytic infiltration of the skin  Jessner's lymphocytic infiltration of the skin

Joubert 증후군  Joubert syndrome

Joubert syndrome with hepatic defect  Joubert syndrome with hepatic defect

Juvenile gastrointestinal polyposis  Juvenile gastrointestinal polyposis

청소년성 류마티스 관절염  Juvenile idiopathic arthritis, JIA

Juvenile neuronal ceroid lipofuscinosis  Juvenile neuronal ceroid lipofuscinosis

Kabuki 증후군  Kabuki syndrome

칼만증후군  Kallmann`s syndrome

카사바하-메리트 증후군  Kasabach-Merritt syndrome

가와사키 병  Kawasaki disease

Kearns-Sayre 증후군  Kearns-Sayre syndrome

Kennedy disease  Kennedy disease

Kenny-Caffey 증후군  Kenny-Caffey syndrome

원추 각막  Keratoconus

KID(Keratitis, ichthyosis and deafness) 증후군  KID(Keratitis, ichthyosis and deafness) syndrome

기쿠치 병  Kikuchi-Fujimoto disease

키무라 병  Kimura disease

클라인-레빈 증후군  Kleine-Levin syndrome

클라인펠터 증후군  Klinefelter`s syndrome

클리펠-파일 증후군  Klippel-Trenaunay syndrome

Kniest dysplasia  Kniest dysplasia

크라베병  Krabbe disease

람버트-이튼 근무력증후군  Lambert-Eaton myasthenic syndrome

층판성 비늘증  Lamellar ichthyosis

란다우-클레프너 증후군  Landau-Kleffner syndrome

Langer-Giedion 증후군  Langer-Giedion syndrome

랑게르한스세포 조직구증식증  Langerhans cell histiocytosis

Larsen 증후군  Larsen syndrome

Laryngeal dyskinesia  Laryngeal dyskinesia

로렌스-문 증후군  Laurence-Moon syndrome

레버씨 선천성 시신경병증  Leber hereditary optic neuropathy

Legg-Calve-Perthes disease  Legg-Calve-Perthes disease

리병  Leigh disease

레녹스-가스토 증후군  Lennox-Gastaut syndrome

LEOPARD 증후군  LEOPARD syndrome

요정증  Leprechaunism

Léri-Weill dyschondrosteosis  Léri-Weill dyschondrosteosis

레쉬-니한 증후군  Lesch-Nyhan syndrome

리-프라우메니 증후군  Li-Fraumeni syndrome

지대근디스트로피  Limb-girdle muscular dystrophy

지방이상증  Lipodystrophy

뇌이랑없음증  Lissencephaly

감금 증후군  Locked-in syndrome

로베 증후군  Lowe syndrome

Lymphangioleiomyomatosis  Lymphangioleiomyomatosis

림프관 기형  Lymphatic malformation

Lysinuric protein intolerance  Lysinuric protein intolerance

대설증  Macroglossia

Madelung disease  Madelung disease

마푸치 증후군  Maffucci syndrome

Mal de debarquement  Mal de debarquement

악성 위축성 구진증  Malignant atrophic papulosis

악성 고열  Malignant hyperthermia

단풍당밀뇨병  Maple syrup urine disease

마르쿠스-건 증후군  Marcus-Gunn syndrome

Marden-Walker 증후군  Marden-Walker syndrome

마르팡 증후군  Marfan’s syndrome

Marinesco-Sjögren 증후군  Marinesco-Sjögren syndrome

Marshall-Smith 증후군  Marshall-Smith syndrome

May-Hegglin thrombocytopenia  May-Hegglin thrombocytopenia

멕켈 증후군  Meckel syndrome

종격 섬유증  Mediastinal fibrosis

Medium chain acyl-CoA dehydrogenase deficiency  Medium chain acyl-CoA dehydrogenase deficiency

수질 해면 신장  Medullary sponge kidney

MELAS 증후군  MELAS syndrome

멜커슨 로젠탈 증후군  Melkersson-Rosenthal syndrome

유선상 과골증  Melorheostosis

Membranoproliferative glomerulonephritis type 2  Membranoproliferative glomerulonephritis type 2

메네트리에 병  Menetrier's disease

메니에르 병  Meniere disease

멘케스병  Menkes disease

MERRF 증후군  MERRF syndrome

이염색백색질장애  Metachromatic leukodystrophy

Metaphyseal chondrodysplasia, Jansen type  Metaphyseal chondrodysplasia, Jansen type

Metaphyseal chondrodysplasia, Schmid type  Metaphyseal chondrodysplasia, Schmid type

Metatropic dysplasia  Metatropic dysplasia

메탄말소닌산혈증  Methylmalonic acidemia

Methylmalonic acidemia - homocystinuria  Methylmalonic acidemia - homocystinuria

Midface retraction syndrome, Schinzel-Giedion type  Midface retraction syndrome, Schinzel-Giedion type

Miller-Dieker 증후군  Miller-Dieker syndrome

혼합 결합 조직병  Mixed connective tissue disease

Miyoshi myopathy  Miyoshi myopathy

MODY 증후군  MODY syndrome

뫼비우스 증후군  Moebius syndrome

Mohr-Tranebjaerg 증후군  Mohr-Tranebjaerg syndrome

염주털(증)  Monilethrix

Monomelic amyotrophy  Monomelic amyotrophy

Monosomy 18p  Monosomy 18p

모야모야 병  Moyamoya disease

뮤코리피드증 II  Mucolipidosis II (I-cell disease)

뮤코리피드증(제3형)  Mucolipidosis type 3

I형 점액다당질증  Mucopolysaccharidosis, type I

II형 점액다당질증  Mucopolysaccharidosis, type II

III형 점액다당질증  Mucopolysaccharidosis, type III

IV형 점액다당질증  Mucopolysaccharidosis, type IV

VI형 점액다당질증  Mucopolysaccharidosis, type VI

VII형 점액다당질증  Mucopolysaccharidosis, type VII

Muenke 증후군  Muenke syndrome

Mullerian aplasia  Mullerian aplasia

다핵/미세핵 병  multiminicore myopathy

Multiple carboxylase deficiency, due to biotinidase deficiency  Multiple carboxylase deficiency, due to biotinidase deficiency

다발 선천 뼈돌출증  Multiple congenital exostoses

Multiple endocrine neoplasia type 1  Multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 2  Multiple endocrine neoplasia type 2

다발성 골단이형성증  Multiple epiphyseal dysplasia

다발성 골단이형성증 (제4형)  Multiple epiphyseal dysplasia type 4

다발 골수종  Multiple myeloma

다발성 경화증  Multiple sclerosis

Multiple system atrophy  Multiple system atrophy

Myalgia-eosinophilia syndrome associated with tryptophan  Myalgia-eosinophilia syndrome associated with tryptophan

중증 근 무력 증  Myasthenia gravis

골수 형성이상 증후군  Myelodysplastic syndromes

골수양화생골수섬유증  Myelofibrosis with myeloid metaplasia

Myoclonic dystonia  Myoclonic dystonia

근육긴장퇴행위축  Myotonic dystrophy

손발톱-슬개골 증후군  Nail-patella syndrome

발작성 수면 및 탈력 발작  Narcolepsy-cataplexy

넬슨 증후군  Nelson`s syndrome

네말린 근병증  Nemaline myopathy

신장모세포종  Nephroblastoma

콩팥(신장 성) 요붕증  Nephrogenic diabetes insipidus

Netherton 병  Netherton disease

Neuroacanthocytosis  Neuroacanthocytosis

Neurodegeneration with brain iron accumulation  Neurodegeneration with brain iron accumulation

제1형 신경섬유종증  Neurofibromatosis type 1

제2형 신경섬유종증  Neurofibromatosis type 2

신경이완제 악성 증후군  Neuroleptic malignant syndrome

시신경척수염  Neuromyelitis optica

신경 세로이드 리포푸신증  Neuronal ceroid lipofuscinosis

니만-피크 병  Niemann-Pick`s disease

비케톤성 고글라이신혈증  Non ketotic hyperglycinemia

Non rare thrombophilia  Non rare thrombophilia

Nonsyndromic hearing loss, autosomal dominant (DFNA)  Nonsyndromic hearing loss, autosomal dominant (DFNA)

Nonsyndromic hearing loss, autosomal recessive (DFNB)  Nonsyndromic hearing loss, autosomal recessive (DFNB)

Nonsyndromic hearing loss, mitochondrial  Nonsyndromic hearing loss, mitochondrial

누난 증후군  Noonan syndrome

노리 병  Norrie disease

Ocular motor apraxia, Cogan type  Ocular motor apraxia, Cogan type

Oculo-auriculo-vertebral spectrum  Oculo-auriculo-vertebral spectrum

눈피부 백색증  Oculocutaneous albinism

Oculocutaneous or ocular albinism  Oculocutaneous or ocular albinism

Oculomotor apraxia or related oculomotor disease  Oculomotor apraxia or related oculomotor disease

눈인두근(육)디스트로피  Oculopharyngeal muscular dystrophy

올리에르 병  Ollier`s disease

배꼽탈출(증)  Omphalocele

Opitz BBB/G 증후군  Opitz BBB/G syndrome

Opsoclonus-myoclonus 증후군  Opsoclonus-myoclonus syndrome

입-얼굴-손발가락 증후군  Oral-facial-digital syndrome

오르티닌혈증(I, II형)  Ornithinaemia(type I,II)

Ornithine carbamoyltransferase deficiency  Ornithine carbamoyltransferase deficiency

Melnick-Needles type 뼈 발생 이상  Osteodysplasty, Melnick-Needles type

불완전 골형성증  Osteogenesis imperfecta

골화석증  Osteopetrosis

Otopalatodigital syndrome type 1  Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2  Otopalatodigital syndrome type 2

Ovotesticular disorder of sex development  Ovotesticular disorder of sex development

경피골막증  Pachydermoperiostosis

선천손발톱경고증  Pachyonychia congenita

Pantothenate-kinase-associated neurodegeneration  Pantothenate-kinase-associated neurodegeneration

Paramyotonia congenita of Von Eulenburg  Paramyotonia congenita of Von Eulenburg

발작성 한랭 혈색소뇨증  Paroxysmal cold hemoglobinuria

발작성 야간 혈색뇨  Paroxysmal nocturnal hemoglobinuria

Parsonage-Turner 증후군  Parsonage-Turner syndrome

Partial androgen insensitivity 증후군  Partial androgen insensitivity syndrome

상세불명의 파타우 증후군  Patau`s syndrome

펠리체우스-메르츠바허병  Pelizaeus-Merzbacher disease

보통 천포창  Pemphigus vulgaris

펜드레드 증후군  Pendred syndrome

Peuz-Jegher 증후군  Peutz-Jeghers syndrome

Pfeiffer 증후군  Pfeiffer syndrome

Pick disease of brain  Pick disease of brain

피어슨 증후군  Pierson syndrome

Pituitary deficiency due to empty sella turcica 증후군  Pituitary deficiency due to empty sella turcica syndrome

모공성 홍색비강진  Pityriasis rubra pilaris

POEMS 증후군  POEMS syndrome

폴란드 증후군  Poland syndrome

결절성 다발동맥염  Polyarteritis nodosa

Polycystic liver disease  Polycystic liver disease

진성적혈구 증가증  Polycythemia vera

다발성 근염  Polymyositis

다골성 섬유성 형성이상  Polyostotic fibrous dysplasia

포르피린증  Porphyria

지연 피부 포르피린증  Porphyria cutanea tarda

프라더 윌리 증후군  Prader-Willi syndrome

Preaxial polydactyly  Preaxial polydactyly

성 조숙증  Precocious puberty

Primary achalasia  Primary achalasia

원발성 담즙성 간경변  Primary biliary cirrhosis

원발 섬모 운동이상증  Primary ciliary dyskinesia

Primary hyperoxaluria type 1  Primary hyperoxaluria type 1

원발측삭경화증  Primary lateral sclerosis

Primary orthostatic hypotension  Primary orthostatic hypotension

원발성 경화성 담관염  Primary sclerosing cholangitis

조로증  Progeria

Progressive cone dystrophy  Progressive cone dystrophy

Progressive familial intrahepatic cholestasis  Progressive familial intrahepatic cholestasis

Progressive hemifacial atrophy  Progressive hemifacial atrophy

진행 다초점 백(색)질뇌병(증)  Progressive multifocal leukoencephalopathy

Progressive myoclonus epilepsy  Progressive myoclonus epilepsy

진행성 핵상 마비  Progressive supranuclear palsy

프로락틴분비종양  Prolactinoma

프로피온산혈증  Propionic acidemia

프로테우스 증후군  Proteus syndrome

Proximal spinal muscular atrophy type 3  Proximal spinal muscular atrophy type 3

말린 자두 증후군  Prune belly syndrome

Pseudoachondroplasia  Pseudoachondroplasia

가성 부갑상선 기능저하증  Pseudohypoparathyroidism

가(성)부갑상선기능저하증(1A형)  Pseudohypoparathyroidism type 1A

가(성)부갑상선기능저하증(1C형)  Pseudohypoparathyroidism type 1C

복강가성 점액종  Pseudomyxoma peritonei

탄력섬유거짓황색종  Pseudoxanthoma elasticum

폐포 단백증  Pulmonary alveolar proteinosis

Pulmonary arterial hypertension  Pulmonary arterial hypertension

필레 증후군  Pyle`s syndrome

괴저 농피증  Pyoderma gangrenosum

Pyruvate dehydrogenase deficiency  Pyruvate dehydrogenase deficiency

Rabson-Mendenhall 증후군  Rabson-Mendenhall syndrome

방사선 직장염  Radiation proctitis

람세헌트 증후군  Ramsay-Hunt syndrome

Rare hereditary hemochromatosis  Rare hereditary hemochromatosis

Rare hypoparathyroidism  Rare hypoparathyroidism

Rare insulin-dependent diabetes mellitus  Rare insulin-dependent diabetes mellitus

비 인슐린 의존 당뇨병  Rare insulin-independent diabetes mellitus

Rasmussen subacute encephalitis  Rasmussen subacute encephalitis

레프숨 병  Refsum disease

재발성 다발 연골염  Relapsing polychondritis

신 글루코스뇨  Renal glucosuria

망막색소변성  Retinitis pigmentosa

미숙 망막 병증  Retinopathy of prematurity

후복막강 섬유증  Retroperitoneal fibrosis

레트 증후군  Rett syndrome

라이 증후군  Reye's syndrome

류마티스 열  Rheumatic fever

Rieger 증후군  Rieger syndrome

Ring chromosome 18  Ring chromosome 18

Ring chromosome 21  Ring chromosome 21

Ring chromosome 4  Ring chromosome 4

Roberts syndrome/SC phocomelia  Roberts syndrome/SC phocomelia

로빈 증후군  Robin syndrome

로비노-실버만-스미스 증후군  Robinow-Sliverman-Smith syndrome

Romano-Ward 증후군  Romano-Ward syndrome

로트문드-톰슨 증후군  Rothmund-Thomson syndrome

Roussy-Levy 증후군  Roussy-Levy syndrome

루빈스타인-테이비 증후군  Rubinstein-Taybi syndrome

러셀-실버 증후군  Russel-Silver syndrome

Saethre-Chotzen 증후군  Saethre-Chotzen syndrome

샌드호프 병  Sandhoff`s disease

유육종증  Sarcoidosis

Scapuloperoneal amyotrophy  Scapuloperoneal amyotrophy

열뇌증(분열뇌증)  Schizencephaly

Schwartz-Jampel 증후군  Schwartz-Jampel syndrome

공피증  Scleroderma

Sebastian 증후군  Sebastian syndrome

시클 증후군  Seckel syndrome

Senior-Loken 증후군  Senior-Loken syndrome

Septooptic dysplasia - digital anomalies  Septooptic dysplasia - digital anomalies

포행성 맥락막염  Serpiginous choroiditis

중증복합면역결핍증  Severe combined immunodeficiency

짧은 갈비뼈 증후군  Short rib syndrome

Shwachman-Diamond 증후군  Shwachman-Diamond syndrome

철적혈모구 빈혈  Sideroblastic anemia

Sinus histiocytosis with massive lymphadenopathy  Sinus histiocytosis with massive lymphadenopathy

인어체증  Sirenomelia

Sjögren-Larsson 증후군  Sjögren-Larsson syndrome

쉐그렌 증후군  Sjögren`s syndrome

스미스-렘리-오피쯔 증후군  Smith-Lemli-Opitz syndrome

Smith-Magenis 증후군  Smith-Magenis syndrome

Sneddon 증후군  Sneddon syndrome

소토스 증후군  Sotos syndrome

척추 갈림 증  Spina bifida

유아성 척수성 근육 위축, I 형  Spinal muscular atrophy, type I

Spinocerebellar ataxia - dysmorphism  Spinocerebellar ataxia - dysmorphism

척수소뇌성 실조증(제1형)  Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1 with axonal neuropathy  Spinocerebellar ataxia type 1 with axonal neuropathy

척수소뇌성 실조증(제17형)  Spinocerebellar ataxia type 17

척수소뇌성 실조증(제2형)  Spinocerebellar ataxia type 2

척수소뇌성실조증(제3형)  Spinocerebellar ataxia type 3

척수소뇌성 실조증(제6형)  Spinocerebellar ataxia type 6

척수소뇌성 실조증(제7형)  Spinocerebellar ataxia type 7

척수소뇌성 실조증(제8형)  Spinocerebellar ataxia type 8

Split hand - split foot  Split hand - split foot

척추뼈 끝 형성이상  Spondyloepiphyseal dysplasia

선천성 척수 골단 이형성  Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia tarda  Spondyloepiphyseal dysplasia tarda

Spondylometaphyseal dysplasia, Kozlowski type  Spondylometaphyseal dysplasia, Kozlowski type

Sprengel deformity  Sprengel deformity

스타가르트병  Stargardt disease

선천 근육긴장증  Steinert myotonic dystrophy

스티븐스-존슨 증후군  Stevens-Johnson syndrome

스티클러 증후군  Stickler syndrome

스티클러 증후군 (제1형)  Stickler syndrome type 1

스티클러 증후군 (제2형)  Stickler syndrome type 2

스티클러 증후군 (제3형)  Stickler syndrome type 3

강직 증후군  Stiff-man syndrome

스터지-웨버 증후군  Sturge-Weber syndrome

Subacute sclerosing leukoencephalitis  Subacute sclerosing leukoencephalitis

Subcortical band heterotopia  Subcortical band heterotopia

Sweet 증후군  Sweet syndrome

척수 공동증  Syringomyelia

전신 홍반성 루푸스  Systemic lupus erythematosus

전신 경화증  Systemic Sclerosis

지연성 이상운동증  Tardive dyskinesia

테이-삭스 병  Tay-Sachs` disease

팔로우 사징후  Tetralogy of Fallot

Tetrasomy 12p  Tetrasomy 12p

치사 성 난장이증  Thanatophoric short stature

혈전성 혈소판감소성 자색반증  Thrombotic thrombocytopenic purpura

Tolosa-Hunt 증후군  Tolosa-Hunt syndrome

뚜렛 증후군  Tourette syndrome

독성 표피 괴사용해  Toxic epidermal necrolysis

Transthyretin-related amyloidosis  Transthyretin-related amyloidosis

Treacher-Collins 증후군  Treacher-Collins syndrome

Triatrial heart  Triatrial heart

모-이-골 증후군  Tricho-dento-osseous syndrome

Trichorhinophalangeal syndromes type 1 and 3  Trichorhinophalangeal syndromes type 1 and 3

삼차 신경통  Trigeminal neuralgia

삼배체  Triploidy

Trisomy 4p  Trisomy 4p

Trisomy 9p  Trisomy 9p

Tropical endomyocardial fibrosis  Tropical endomyocardial fibrosis

동맥간 존속(증)  Truncus arteriosus

결절성 경화증  Tuberous sclerosis

Turcot syndrome with polyposis  Turcot syndrome with polyposis

터너 증후군  Turner’s syndrome

Twin to twin transfusion 증후군  Twin to twin transfusion syndrome

티로신혈증  Tyrosinemia

궤양성 대장염  Ulcerative colitis

척골관 증후군  Ulnar-mammary syndrome

아셔 증후군 (제1형)  Usher syndrome type 1

아셔 증후군 (제2형)  Usher syndrome type 2

아셔 증후군 (제3형)  Usher syndrome type 3

포도막염  Uveitis

VACTERL with hydrocephalus  VACTERL with hydrocephalus

VATER association  VATER association

Vernal keratoconjunctivitis  Vernal keratoconjunctivitis

전정 신경초종  Vestibular schwannoma

비타민 D 저항성 구루병  Vitamine-D-resistant rickets

Vogt-Koyanagi-Harada disease  Vogt-Koyanagi-Harada disease

폰힙펠-란도우병  Von Hippel-Lindau disease

폰 빌레브란트 병  Von Willebrand disease

Waardenburg 증후군 (제1형)  Waardenburg syndrome type 1

Waardenburg 증후군 (제2형)  Waardenburg syndrome type 2

Waardenburg 증후군 (제3형)  Waardenburg syndrome type 3

Waardenburg-Shah 증후군  Waardenburg-Shah syndrome

발덴스트룀 마크로글로불린혈증  Waldenström macroglobulinemia

Walker-Warburg 증후군  Walker-Warburg syndrome

Weaver 증후군  Weaver syndrome

베게너 육아종 증  Wegener granulomatosis

Weill-Marchesani 증후군  Weill-Marchesani syndrome

베르너 증후군  Werner syndrome

웨스트 증후군  West syndrome

프리만 쉘돈 증후군  Whistling face Freeman Sheldon syndrome

윌리암스 증후군  Williams syndrome

윌슨병  Wilson disease

비스코트-올드리치 증후군  Wiskott-Aldrich syndrome

Wolf-Hirschhorn 증후군  Wolf-Hirschhorn syndrome

월프-파킨슨-화이트 증후군  Wolff-Parkinson-White syndrome

위번-매슨 증후군  Wyburn-Mason syndrome

X 연관 부신백질형성장애  X-linked Adrenoleukodystrophy

X연관 중심핵근육병증  X-linked centronuclear myopathy

X-linked Charcot-Marie-Tooth disease  X-linked Charcot-Marie-Tooth disease

X 연관 우성형 점상연골 이형성  X-linked dominant chondrodysplasia punctata

X 연관 저 인산염혈증  X-linked hypophosphatemia

반성 어린선  X-linked ichthyosis

X-linked immune dysregulation - polyendocrinopathy - enteropathy  X-linked immune dysregulation - polyendocrinopathy - enteropathy

X염색체관련 (연소기) 망막층간분리  X-linked retinoschisis

색소성 건피증  Xeroderma pigmentosum

졸링거-엘리슨 증후군  Zollinger-Ellison syndrome