Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Autosomal dominant
Childhood, Infancy
Global developmental delay-osteopenia-ectodermal defect syndrome
Unknown
Childhood
Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome
Autosomal dominant
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Glomus tumor
All ages
Glomuvenous malformation
Autosomal dominant
Adolescent, Adult, Childhood, Infancy, Neonatal
Glossopalatine ankylosis
Not applicable
Infancy, Neonatal
Glossopharyngeal neuralgia
Adolescent, Adult, Elderly
Glucagonoma
Not applicable
Adult
Glucose-galactose malabsorption
Autosomal recessive
Infancy, Neonatal
Glutamate-cysteine ligase deficiency
Autosomal recessive
Infancy
Glutaric acidemia type 3
Autosomal recessive
All ages
Glutaryl-CoA dehydrogenase deficiency
Autosomal recessive
Infancy, Neonatal
Glutathione synthetase deficiency
Autosomal recessive
Neonatal
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
Glycine encephalopathy
Autosomal recessive
Infancy, Neonatal
Glycogen storage disease
Glycogen storage disease due to acid maltase deficiency
Autosomal recessive
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
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 aldolase A deficiency
Autosomal recessive
Neonatal