Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Lewis-Sumner syndrome
Not applicable
All ages
Leydig cell hypoplasia
Neonatal
Leydig cell hypoplasia due to LHB deficiency
Autosomal recessive
Leydig cell hypoplasia due to complete LH resistance
Autosomal recessive
Neonatal
Leydig cell hypoplasia due to partial LH resistance
Autosomal recessive
Neonatal
Lhermitte-Duclos disease
Autosomal dominant, Not applicable
Adult
Li-Fraumeni syndrome
Autosomal dominant
All ages
Lichen amyloidosis
Adolescent, Adult
Lichen myxedematosus
Adult, Infancy
Lichen planopilaris
Not applicable
Adult
Lichen planus pemphigoides
All ages
Lichen planus pigmentosus
Adult
Lichtenstein syndrome
Autosomal recessive
Infancy, Neonatal
Liddle syndrome
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Limb body wall complex
Not applicable
Antenatal, Infancy, Neonatal
Limb-girdle muscular dystrophy
Autosomal dominant, Autosomal recessive
All ages
Limb-girdle muscular dystrophy due to POMK deficiency
Autosomal recessive
Infancy
Limb-mammary syndrome
Autosomal dominant
Antenatal, Neonatal
Limbal stem cell deficiency
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy
Limited cutaneous systemic sclerosis
Multigenic/multifactorial, Not applicable
Adult
Limited systemic sclerosis
Not applicable
Adult
Linear IgA dermatosis
Not applicable
All ages
Linear and whorled nevoid hypermelanosis
Infancy, Neonatal
Linear atrophoderma of Moulin
Childhood