Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Keipert syndrome
X-linked recessive
Antenatal, Infancy, Neonatal
Kenny-Caffey syndrome
Autosomal dominant, Autosomal recessive
Childhood
Keppen-Lubinsky syndrome
Autosomal dominant, Not applicable
Neonatal
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
X-linked recessive
Infancy, Neonatal
Keutel syndrome
Autosomal recessive
Childhood
King-Denborough syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Kleefstra syndrome
Autosomal dominant
Neonatal
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Autosomal recessive
Infancy
Knobloch syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Koolen-De Vries syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Kosaki overgrowth syndrome
No data available
Infancy
Kousseff syndrome
Antenatal, Infancy, Neonatal
Kuskokwim syndrome
Autosomal recessive
Childhood, Neonatal
Kyphomelic dysplasia
Antenatal, Neonatal
L1 syndrome
X-linked recessive
Antenatal, Infancy, Neonatal
LRP5-related primary osteoporosis
Autosomal dominant
Adolescent, Childhood
LUMBAR syndrome
Unknown
Infancy, Neonatal
Lacrimoauriculodentodigital syndrome
Autosomal dominant
Antenatal, Neonatal
Lambert syndrome
Unknown
Neonatal
Laminin subunit alpha 2-related congenital muscular dystrophy
Autosomal recessive
Antenatal, Infancy, Neonatal
Langer mesomelic dysplasia
Autosomal recessive
Antenatal
Larsen syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Larsen-like osseous dysplasia-short stature syndrome
Neonatal
Larsen-like syndrome, B3GAT3 type
Autosomal recessive
Infancy, Neonatal