ORDO Find_IDs Find_Terms Annotation
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created at 2024-09-23 16:23:50 UTC
updated at 2024-09-23 18:22:39 UTC
Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
20,514 entries
Label
Id
Del(14)(q11.2) Orphanet_261120
Del(14)(q12) Orphanet_261144
Del(15)(q11.2) Orphanet_261183
Del(15)(q14) Orphanet_261190
Del(16)(p11.2p12.2) Orphanet_261211
Del(16)(p13.11) Orphanet_261236
Del(16)(q24.3) Orphanet_261250
Del(17)(q12) Orphanet_261265
Del(17)(q23.1q23.2) Orphanet_261279
Del(2)(p15p16.1) Orphanet_261349
Del(20)(p12.3) Orphanet_261295
Del(20)(q13.33) Orphanet_261311
Del(21)(q22.11q22.12) Orphanet_261323
Del(X)(p21) Orphanet_261476
Dup(14)(q11.2) Orphanet_261229