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Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
7,547
Заболевания
4 552
Гены
8 700
Фенотипы
140
Регионы
Все (7,547)Bio anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformationMorphological anomalyClinical situation
Distal deletion 17q syndrome
Not applicable, Unknown
Antenatal, Neonatal
Distal deletion 19p syndrome
Antenatal, Neonatal
Distal deletion 1q syndrome
Neonatal
Distal deletion 3p syndrome
Antenatal, Neonatal
Distal deletion 4q syndrome
Infancy, Neonatal
Distal deletion 6p syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal
Distal deletion 7p syndrome
Antenatal, Neonatal
Distal deletion 9p syndrome
Infancy, Neonatal
Distal duplication 10q syndrome
Infancy, Neonatal
Distal duplication 11q syndrome
Antenatal, Neonatal
Distal duplication 13q syndrome
Antenatal, Neonatal
Distal duplication 14q syndrome
Antenatal, Neonatal
Distal duplication 16q syndrome
Antenatal, Neonatal
Distal duplication 17q syndrome
Neonatal
Distal duplication 18q syndrome
Antenatal, Neonatal
Distal duplication 19q syndrome
Infancy, Neonatal
Distal duplication 1p36 syndrome
Infancy, Neonatal
Distal duplication 20q syndrome
Antenatal, Neonatal
Distal duplication 22q syndrome
Antenatal, Neonatal
Distal duplication 2p syndrome
Neonatal
Distal duplication 2q syndrome
Infancy, Neonatal
Distal duplication 3p syndrome
Antenatal, Neonatal
Distal duplication 4q syndrome
Antenatal, Neonatal
Distal duplication 5q syndrome
Neonatal