Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Linear verrucous nevus syndrome
Neonatal
Lipoblastoma
Not applicable
Childhood
Lipodystrophy due to peptidic growth factors deficiency
Unknown
Neonatal
Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
Autosomal recessive
Lipodystrophy-intellectual disability-deafness syndrome
Autosomal recessive
Childhood
Lipoic acid synthetase deficiency
Autosomal recessive
Neonatal
Lipoprotein glomerulopathy
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Liposarcoma
Unknown
All ages
Lipoyl transferase 1 deficiency
Autosomal recessive
Infancy, Neonatal
Lisch epithelial corneal dystrophy
X-linked dominant
Childhood
Lissencephaly due to LIS1 mutation
Autosomal dominant
Antenatal, Infancy, Neonatal
Lissencephaly type 1 due to doublecortin gene mutation
X-linked recessive
Adolescent, Childhood, Infancy, Neonatal
Listeriosis
Not applicable
All ages
Liver adenomatosis
Adult, Elderly
Localized dystrophic epidermolysis bullosa
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Localized epidermolysis bullosa simplex
Autosomal dominant
Childhood
Localized junctional epidermolysis bullosa
Autosomal recessive
Infancy, Neonatal
Localized pagetoid reticulosis
Not applicable
Adult
Localized scleroderma
Not applicable
All ages
Loeffler endocarditis
Adolescent, Adult, Childhood
Logopenic progressive aphasia
Multigenic/multifactorial, Not applicable
Adult
Loiasis
Not applicable
All ages
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Autosomal recessive
Infancy, Neonatal
Loose anagen syndrome
Autosomal dominant
Childhood