Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Fumaric aciduria
Autosomal recessive
Infancy, Neonatal
Functioning gonadotropic adenoma
Adult
Fundus albipunctatus
Autosomal dominant, Autosomal recessive
Childhood
Fungal myositis
All ages
Furuncular myiasis
Not applicable
All ages
Fusariosis
Not applicable
All ages
GATA2 deficiency spectrum
Autosomal dominant, Not applicable
Adult
GCGR-related hyperglucagonemia
Autosomal recessive
Adult
GJC2-related late-onset primary lymphedema
Autosomal dominant
Adolescent, Adult, Childhood
GM1 gangliosidosis
Autosomal recessive
Childhood
GM2 gangliosidosis, AB variant
Autosomal recessive
Infancy
GM3 synthase deficiency
Autosomal recessive
GMPPB-related limb-girdle muscular dystrophy R19
Autosomal recessive
Childhood, Infancy, Neonatal
GNAO1-related developmental delay-seizures-movement disorder spectrum
Autosomal dominant
Childhood, Infancy, Neonatal
GNB5-related intellectual disability-cardiac arrhythmia syndrome
Autosomal recessive
Childhood, Infancy
GNE myopathy
Autosomal dominant, Autosomal recessive
Adolescent, Adult
GRACILE syndrome
Autosomal recessive
Antenatal, Neonatal
GRFoma
Not applicable
Adult
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Autosomal dominant
Childhood, Infancy, Neonatal
Gaisböck syndrome
Adult
Galactokinase deficiency
Autosomal recessive
Infancy, Neonatal
Galactose epimerase deficiency
Autosomal recessive
Infancy, Neonatal
Galactose mutarotase deficiency
Autosomal recessive
Infancy, Neonatal
Galactosialidosis
Autosomal recessive
All ages