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
Nevus sebaceus of Jadassohn Orphanet_2612
Linear nevus sebaceus syndrome Orphanet_2612
Nevus sebaceus syndrome Orphanet_2612
Organoid nevus syndrome Orphanet_2612
16p11.2p12.2 microduplication syndrome Orphanet_261204
16p11.2p12.2 microdeletion syndrome Orphanet_261211
14q11.2 microduplication syndrome Orphanet_261229
16p13.11 microdeletion syndrome Orphanet_261236
16p13.11 microduplication syndrome Orphanet_261243
16q24.3 microdeletion syndrome Orphanet_261250
17q12 microdeletion syndrome Orphanet_261265
17q12 microduplication syndrome Orphanet_261272
17q23.1q23.2 microdeletion syndrome Orphanet_261279
20p12.3 microdeletion syndrome Orphanet_261295