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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