Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Low oxygen affinity hemoglobin disease
Autosomal dominant
Low phospholipid-associated cholelithiasis
Autosomal dominant, Autosomal recessive
Adult
Lower motor neuron syndrome with late-adult onset
Autosomal dominant
Adult
Lowry-Wood syndrome
Autosomal recessive
Neonatal
Lujo hemorrhagic fever
All ages
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Infancy
Lupus erythematosus panniculitis
Adolescent, Adult, Childhood, Elderly, Infancy
Lupus erythematosus tumidus
Adolescent, Adult, Childhood, Elderly
Lyme disease
Not applicable
All ages
Lymphangioleiomyomatosis
Not applicable
Adult
Lymphatic filariasis
Not applicable
All ages
Lymphedema with yellow nails
Adult, Childhood, Neonatal
Lymphoid interstitial pneumonia
Not applicable
All ages
Lymphomatoid granulomatosis
Not applicable
Adult
Lymphomatoid papulosis
All ages
Lymphoplasmacytic lymphoma without IgM production
Not applicable
Lynch syndrome
Autosomal dominant
Adult
Lysinuric protein intolerance
Autosomal recessive
Infancy, Neonatal
Lysosomal acid lipase deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Lysosomal acid phosphatase deficiency
Autosomal recessive
Infancy, Neonatal
MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome
Autosomal recessive
Infancy
MAGIC syndrome
Adolescent, Adult, Childhood
MALT lymphoma
Multigenic/multifactorial, Not applicable
Adult
MAN1B1-CDG
Autosomal recessive
Childhood, Infancy