Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Genetic non-syndromic obesity
Not applicable
Childhood, Infancy
Genetic recurrent myoglobinuria
Autosomal dominant, Autosomal recessive, Not applicable
Childhood
Genetic transient congenital hypothyroidism
Autosomal recessive
Infancy, Neonatal
Genochondromatosis type 1
Autosomal dominant
Childhood
Genochondromatosis type 2
Childhood
Gerstmann-Straussler-Scheinker syndrome
Autosomal dominant, Not applicable
Adult
Gestational choriocarcinoma
Not applicable
Adult
Giant axonal neuropathy
Autosomal recessive
Childhood, Infancy
Giant cell arteritis
Multigenic/multifactorial
Adult
Giant cell tumor of bone
Not applicable
Adult
Gitelman syndrome
Autosomal recessive
Childhood
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
All ages
Glanzmann thrombasthenia
Autosomal recessive
Infancy, Neonatal
Glaucoma-sleep apnea syndrome
Unknown
No data available
Glaucomatocyclitic crisis disease
Adolescent, Adult
Glioblastoma
Multigenic/multifactorial, Not applicable
All ages
Gliomatosis cerebri
Not applicable
Adult
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Autosomal dominant
Antenatal, Neonatal
Global developmental delay-high pain tolerance-intellectual disability syndrome
Autosomal dominant
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Glomus tumor
All ages
Glossopharyngeal neuralgia
Adolescent, Adult, Elderly
Glucagonoma
Not applicable
Adult
Glucose-galactose malabsorption
Autosomal recessive
Infancy, Neonatal