Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Laryngeal abductor paralysis
Neonatal
Laryngeal abductor paralysis-intellectual disability syndrome
X-linked recessive
Childhood
Laryngocele
All ages
Larynx atresia
Autosomal dominant
All ages
Lateral meningocele syndrome
Autosomal dominant
Infancy, Neonatal
Laurence-Moon syndrome
Autosomal recessive
Neonatal
Laurin-Sandrow syndrome
Autosomal dominant
Antenatal, Neonatal
Legius syndrome
Autosomal dominant
Childhood, Infancy, Neonatal
Lelis syndrome
Autosomal recessive
Adolescent, Adult, Childhood
Lenz-Majewski hyperostotic dysplasia
Autosomal dominant
Antenatal, Infancy, Neonatal
Leri pleonosteosis
Autosomal dominant
Infancy, Neonatal
Lethal Kniest-like dysplasia
Autosomal recessive
Neonatal
Lethal Larsen-like syndrome
Autosomal recessive
Neonatal
Lethal brain and heart developmental defects
Autosomal recessive
Antenatal
Lethal congenital contracture syndrome type 1
Autosomal recessive
Antenatal, Neonatal
Lethal congenital contracture syndrome type 2
Autosomal recessive
Antenatal, Neonatal
Lethal congenital contracture syndrome type 3
Autosomal recessive
Antenatal, Neonatal
Lethal faciocardiomelic dysplasia
Autosomal recessive
Neonatal
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Autosomal recessive
Antenatal
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Autosomal recessive
Antenatal
Lethal hemolytic anemia-genital anomalies syndrome
Unknown
Neonatal
Lethal hydranencephaly-diaphragmatic hernia syndrome
Autosomal recessive
Neonatal
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
X-linked recessive
Antenatal
Lethal multiple pterygium syndrome
Autosomal recessive, X-linked recessive
Antenatal