Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Lambert-Eaton myasthenic syndrome
Not applicable
Adult
Lamellar ichthyosis
Autosomal dominant, Autosomal recessive
Neonatal
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
Autosomal recessive
Landau-Kleffner syndrome
Autosomal dominant, Unknown
Childhood
Langerhans cell histiocytosis
Unknown
All ages
Langerhans cell sarcoma
All ages
Large/giant congenital melanocytic nevus
Multigenic/multifactorial
Infancy, Neonatal
Laron syndrome
Autosomal recessive
Infancy, Neonatal
Laron syndrome with immunodeficiency
Autosomal dominant, Autosomal recessive
Childhood, Infancy, Neonatal
Laryngeal neuroendocrine tumor
Adult
Laryngo-onycho-cutaneous syndrome
Autosomal recessive
Infancy, Neonatal
Lassa fever
All ages
Late-onset combined immunodeficiency due to ICOS deficiency
Autosomal recessive
Late-onset combined immunodeficiency due to ICOSL deficiency
Late-onset distal myopathy, Markesbery-Griggs type
Autosomal dominant
Adult
Late-onset focal dermal elastosis
Not applicable
Adult
Late-onset isolated ACTH deficiency
Not applicable
Adult
Late-onset junctional epidermolysis bullosa
Autosomal recessive
Adolescent, Adult, Childhood
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Unknown
Childhood
Late-onset retinal degeneration
Autosomal dominant
Adult, Elderly
Lathosterolosis
Autosomal recessive
Neonatal
Lattice corneal dystrophy type I
Autosomal dominant
All ages
Lead poisoning
Not applicable
All ages
Leber congenital amaurosis
Autosomal dominant, Autosomal recessive
Infancy, Neonatal