Orphanet Datenbank · Orphadata CC-BY-4.0
Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
7,547
Erkrankungen
4 552
Gene
8 700
Phänotypen
140
Regionen
Alle (7,547)Bio-AnomalieKategorieKlinische GruppeKlinischer SubtypClinical syndromeErkrankungÄtiologischer SubtypHistopathologischer SubtypMalformationssyndromMorphologische AnomalieBesondere klinische 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