Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
2q37 microdeletion syndrome
Autosomal dominant, Not applicable
Neonatal
3-hydroxy-3-methylglutaric aciduria
Autosomal recessive
All ages
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Autosomal recessive
Childhood
3-hydroxyisobutyric aciduria
Antenatal, Neonatal
3-methylcrotonyl-CoA carboxylase deficiency
Autosomal recessive
All ages
3-methylglutaconic aciduria type 1
Autosomal recessive
Infancy, Neonatal
3-methylglutaconic aciduria type 3
Autosomal recessive
Childhood
3-methylglutaconic aciduria type 4
Autosomal recessive
Infancy, Neonatal
3-methylglutaconic aciduria type 8
Autosomal recessive
Neonatal
3-methylglutaconic aciduria type 9
Autosomal recessive
Infancy
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
Autosomal recessive
Antenatal, Neonatal
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Autosomal recessive
Adolescent, Childhood, Infancy
3-phosphoserine phosphatase deficiency, infantile/juvenile form
Autosomal recessive
Infancy
3C syndrome
Autosomal recessive, X-linked recessive
Antenatal, Infancy, Neonatal
3M syndrome
Autosomal recessive
Antenatal
3MC syndrome
Autosomal recessive
Antenatal, Neonatal
3p25.3 microdeletion syndrome
Not applicable
Infancy, Neonatal
3q13 microdeletion syndrome
Not applicable
Antenatal, Neonatal
3q26 microduplication syndrome
Antenatal, Neonatal
3q26q28 deletion syndrome
Autosomal dominant
3q29 microdeletion syndrome
Autosomal dominant
Infancy, Neonatal
3q29 microduplication syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
45,X/46,XY mixed gonadal dysgenesis
Not applicable, Unknown
All ages
46,XX difference of sex development-anorectal anomalies syndrome
Neonatal