Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
1q41q42 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
1q44 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
2-aminoadipic 2-oxoadipic aciduria
Autosomal recessive
Childhood, Infancy
2-hydroxyglutaric aciduria
Autosomal dominant, Autosomal recessive
Childhood
2-methylbutyryl-CoA dehydrogenase deficiency
Autosomal recessive
Infancy, Neonatal
20p12.3 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
20p13 microdeletion syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
20q11.2 microdeletion syndrome
Not applicable
Antenatal, Neonatal
20q11.2 microduplication syndrome
Infancy, Neonatal
20q13.33 microdeletion syndrome
Not applicable
Neonatal
21q deletion syndrome
Antenatal, Neonatal
21q22.11q22.12 microdeletion syndrome
Not applicable
Infancy, Neonatal
22q11.2 deletion syndrome
Autosomal dominant
All ages
22q11.2 duplication syndrome
Autosomal dominant
All ages
2p13.2 microdeletion syndrome
Autosomal dominant
Infancy, Neonatal
2p15p16.1 microdeletion syndrome
Not applicable
Antenatal, Infancy, Neonatal
2p21 microdeletion syndrome
Autosomal recessive
Infancy, Neonatal
2p21 microdeletion syndrome without cystinuria
Autosomal recessive
Infancy, Neonatal
2p25.3 microduplication syndrome
Autosomal dominant
2q13 microdeletion syndrome
Autosomal dominant
2q23.1 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
2q23.1 microduplication syndrome
Not applicable, Unknown
Infancy, Neonatal
2q31.1 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
2q32q33 deletion syndrome
Not applicable, Unknown
Infancy, Neonatal