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
Proximal myotonic dystrophy Orphanet_606
Tibial muscular dystrophy Orphanet_609
Pudendal nerve entrapment syndrome Orphanet_60039
Enlarged parietal foramina Orphanet_60015
Symmetric parietal foramina Orphanet_60015
Isolated female hypospadias Orphanet_603515
Pulmonary nodular lymphoid hyperplasia Orphanet_60026
Non-syndromic cloacal malformation Orphanet_600998
Non-syndromic anorectal malformation with H-type fistula Orphanet_601033
Non-syndromic anorectal malformation with anal stenosis Orphanet_601008
Non-syndromic anorectal malformation with bladder neck fistula Orphanet_600984
Non-syndromic anorectal malformation with cutaneous fistula Orphanet_600952
Non-syndromic anorectal malformation with no fistula Orphanet_601002
Non-syndromic anorectal malformation with perineal fistula Orphanet_600952
Non-syndromic anorectal malformation with pouch colon Orphanet_601013