Laboratory name
서울대학교병원 이비인후과 유전성난청 연구소
Director
오승하, MD, PhD
Address
서울특별시 종로구 대학로 101 서울대학교병원 임상의학연구소 (110-744)
Contact
02-2072-1809
Email
shaoh@snu.ac.kr
Disease treatment
MELAS 증후군
MELAS syndrome
알포트 증후군
Alport syndrome
노리 병
Norrie disease
Mohr-Tranebjaerg 증후군
Mohr-Tranebjaerg syndrome
레프숨 병
Refsum disease
Multiple carboxylase deficiency, due to biotinidase deficiency
Multiple carboxylase deficiency, due to biotinidase deficiency
Jervell and Lange-Nielsen 증후군
Jervell and Lange-Nielsen syndrome
펜드레드 증후군
Pendred syndrome
Treacher-Collins 증후군
Treacher-Collins syndrome
제2형 신경섬유종증
Neurofibromatosis type 2
비 인슐린 의존 당뇨병
Rare insulin-independent diabetes mellitus
아가미귀콩팥증후군
Branchio-oto-renal syndrome
스티클러 증후군 (제1형)
Stickler syndrome type 1
Waardenburg 증후군 (제1형)
Waardenburg syndrome type 1
아셔 증후군 (제1형)
Usher syndrome type 1
아셔 증후군 (제2형)
Usher syndrome type 2
아셔 증후군 (제3형)
Usher syndrome type 3
스티클러 증후군 (제2형)
Stickler syndrome type 2
스티클러 증후군 (제3형)
Stickler syndrome type 3
스티클러 증후군
Stickler syndrome
Waardenburg 증후군 (제2형)
Waardenburg syndrome type 2
Waardenburg 증후군 (제3형)
Waardenburg syndrome type 3
Waardenburg-Shah 증후군
Waardenburg-Shah syndrome
Gusher 증후군
Gusher syndrome
Nonsyndromic hearing loss, autosomal dominant (DFNA)
Nonsyndromic hearing loss, autosomal dominant (DFNA)
Nonsyndromic hearing loss, autosomal recessive (DFNB)
Nonsyndromic hearing loss, autosomal recessive (DFNB)
CHARGE 증후군
CHARGE syndrome
MERRF 증후군
MERRF syndrome