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
Erythropoietic porphyria Orphanet_659681
Hepatic porphyria Orphanet_659694
ARCN1-related syndrome Orphanet_659702
Rare yersiniosis Orphanet_659712
Oroya fever Orphanet_659756
Peruvian warts Orphanet_659759
Verruga peruana Orphanet_659759
Methylenetetrahydrofolate dehydrogenase 1 deficiency Orphanet_658813
Acrocephalopolysyndactyly type 2 Orphanet_65759
LGMD, type 28 Orphanet_653725
Limb-girdle, type 28R Orphanet_653725
PBX1-related syndromic CAKUT Orphanet_656130
Multiple keratoacanthoma, Ferguson-Smith type Orphanet_65748
KWWH type II Orphanet_65282
Follicular T-cell Lymphoma Orphanet_652650