Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Furuncular myiasis due to Dermatobia hominis
All ages
GM1 gangliosidosis type 1
Autosomal recessive
Infancy, Neonatal
GM1 gangliosidosis type 2
Autosomal recessive
Childhood
GM1 gangliosidosis type 3
Autosomal recessive
All ages
GTP cyclohydrolase I deficiency
Autosomal recessive
Infancy, Neonatal
Gamma-heavy chain disease
Adult
Gaucher disease type 1
Autosomal recessive
All ages
Gaucher disease type 2
Autosomal recessive
Infancy
Gaucher disease type 3
Autosomal recessive
All ages
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Autosomal recessive
Childhood
Generalized galactose epimerase deficiency
Autosomal recessive
Generalized juvenile polyposis/juvenile polyposis coli
Autosomal dominant
All ages
Generalized pseudohypoaldosteronism type 1
Autosomal recessive
Infancy, Neonatal
Genetic central precocious puberty in male
Germinoma of the central nervous system
Not applicable
Adolescent, Adult, Childhood
Glutathione synthetase deficiency with 5-oxoprolinuria
Autosomal recessive
Glutathione synthetase deficiency without 5-oxoprolinuria
Autosomal recessive
Glycerol kinase deficiency, adult form
X-linked recessive
Adult
Glycerol kinase deficiency, juvenile form
X-linked recessive
Adolescent, Childhood
Glycogen storage disease due to acid maltase deficiency, infantile onset
Autosomal recessive
Antenatal, Infancy, Neonatal
Glycogen storage disease due to acid maltase deficiency, late-onset
Autosomal recessive
Adolescent, Adult
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Autosomal recessive
Infancy, Neonatal
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Autosomal recessive
Infancy, Neonatal
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Autosomal recessive