Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Johanson-Blizzard syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Johnson neuroectodermal syndrome
Autosomal dominant
Childhood
Joubert syndrome and related disorders
Autosomal recessive, X-linked recessive
Infancy, Neonatal
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Autosomal recessive
Neonatal
Joubert syndrome with hepatic defect
Autosomal recessive
Neonatal
Joubert syndrome with ocular defect
Autosomal recessive
Infancy, Neonatal
Joubert syndrome with oculorenal defect
Autosomal recessive
Infancy, Neonatal
Joubert syndrome with renal defect
Autosomal recessive
Infancy, Neonatal
Juberg-Hayward syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Junctional epidermolysis bullosa
Autosomal recessive
Adolescent, Antenatal, Infancy, Neonatal
Junctional epidermolysis bullosa inversa
Autosomal recessive
Infancy, Neonatal
Junctional epidermolysis bullosa with pyloric atresia
Autosomal recessive
Antenatal, Neonatal
Jung syndrome
Infancy, Neonatal
Juvenile CLN1 disease
Autosomal recessive
Juvenile CLN10 disease
Autosomal recessive
Juvenile CLN2 disease
Autosomal recessive
Juvenile CLN3 disease
Autosomal recessive
Juvenile CLN5 disease
Autosomal recessive
Juvenile CLN6 disease
Autosomal recessive
Juvenile Huntington disease
Autosomal dominant
Adolescent, Childhood
Juvenile Paget disease
Autosomal recessive
Childhood
Juvenile absence epilepsy
Multigenic/multifactorial, Unknown
Adolescent
Juvenile amyotrophic lateral sclerosis
Autosomal recessive
Childhood
Juvenile cataract-microcornea-renal glucosuria syndrome
Autosomal dominant
Childhood