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
Coarctation of the abdominal aorta Orphanet_1456
Teratoma of the nasopharynx Orphanet_141107
Hyperlipidemia due to HL deficiency Orphanet_140905
Hyperlipidemia due to HTGL deficiency Orphanet_140905
Hyperlipidemia due to hepatic lipase deficiency Orphanet_140905
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency Orphanet_140905
Hyperlipidemia due to hepatic triglyceride lipase deficiency Orphanet_140905
PPK, Nagashima type Orphanet_140966
Oral-facial-digital syndrome type 11 Orphanet_141000
Orofaciodigital syndrome type 11 Orphanet_141000
Biemond syndrome type 2 Orphanet_141333
Pena-Shokeir syndrome type 2 Orphanet_1466
Oral-facial-digital syndrome type 9 Orphanet_141007
Orofaciodigital syndrome type 9 Orphanet_141007
Primary intraosseous venous malformation Orphanet_140436