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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