ORDO Find_IDs Find_Terms Annotation
manager
language -
license -
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
APCA Orphanet_624244
Alpha-sarcoglycanopathy Orphanet_62
BIID Orphanet_623789
FINCA Orphanet_621758
IMCA Orphanet_623638
LCMN Orphanet_626
LGMD2D Orphanet_62
PACA Orphanet_624268
SMAS Orphanet_622099
Isolated pachycephaly Orphanet_620178
Isolated pansynostosis Orphanet_620212
Non-syndromic pansynostosis Orphanet_620212
Congenital methemoglobinemia Orphanet_621
Hereditary methemoglobinemia Orphanet_621
Methylcobalamin deficiency Orphanet_622