Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Autosomal recessive
All ages
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Autosomal recessive
Childhood
Leukoencephalopathy-palmoplantar keratoderma syndrome
Autosomal recessive
Childhood
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
X-linked recessive
Childhood, Infancy
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
No data available
Infancy, Neonatal
Leukonychia totalis
Autosomal dominant, Autosomal recessive
Neonatal
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
Autosomal dominant
Infancy, Neonatal
Leydig cell hypoplasia
Neonatal
Li-Fraumeni syndrome
Autosomal dominant
All ages
Lichen amyloidosis
Adolescent, Adult
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-girdle muscular dystrophy due to POMK deficiency
Autosomal recessive
Infancy
Limbal stem cell deficiency
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy
Linear IgA dermatosis
Not applicable
All ages
Linear and whorled nevoid hypermelanosis
Infancy, Neonatal
Linear atrophoderma of Moulin
Childhood
Linear focal elastosis
Not applicable
All ages
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Not applicable
No data available
Linear lichen planus
All ages
Linear nevus sebaceus syndrome
Not applicable
Childhood, Infancy, Neonatal