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
Hypertelorism-hypospadias-polysyndactyly syndrome Orphanet_2211
Naguib-Richieri-Costa syndrome Orphanet_2211
Cranial neuralgia Orphanet_221109
Facial neuralgia Orphanet_221109
Gerstmann syndrome Orphanet_221117
Pseudoaminopterin syndrome Orphanet_221120
Fowler vasculopathy Orphanet_221126
Roifman-Chitayat syndrome Orphanet_221139
Urban-Rifkin-Davis syndrome Orphanet_221145
Bixler-Christian-Gorlin syndrome Orphanet_2213
HMC syndrome Orphanet_2213
Froster-Iskenius-Waterson-Hall syndrome Orphanet_2215
Poikiloderma of Rothmund-Thomson type 1 Orphanet_221008
Poikiloderma of Rothmund-Thomson type 2 Orphanet_221016
Proliferative vasculopathy and hydranencephaly/hydrocephaly Orphanet_221126