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
Pilocytic astrocytoma with histological features of anaplasia Orphanet_673585
Spondyloepimetaphyseal dysplasia with joint laxity type 1 Orphanet_642099
Spondyloepimetaphyseal dysplasia with joint laxity type 3 Orphanet_642085
Hereditary neuropathy with liability to pressure palsies Orphanet_640
Embryonal tumor with multilayered rosettes Orphanet_656417
Trigeminal neuropathy with nasal ulceration Orphanet_664901
Ectodermal dysplasia with natal teeth, Turnpenny type Orphanet_69083
Non-syndromic ARM with perineal fistula Orphanet_600952
Vascular EDS with polymicrogyria Orphanet_636941
Distal myopathy with posterior leg and anterior hand involvement Orphanet_63273
Non-syndromic ARM with pouch colon Orphanet_601013
Non-syndromic ARM with rectal atresia Orphanet_601018
Non-syndromic ARM with rectal stenosis Orphanet_601023
Non-syndromic ARM with rectobulbar fistula Orphanet_600966
Non-syndromic ARM with rectoprostatic fistula Orphanet_600975