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
Isolated genetic deafness Orphanet_87884
Non-syndromic genetic deafness Orphanet_87884
Rare intellectual disability Orphanet_87277
Familial Lenègre disease Orphanet_871
Familial Lev disease Orphanet_871
Familial Lev-Lenègre disease Orphanet_871
Desmoid type fibromatosis Orphanet_873
Isolated genetic hearing loss Orphanet_87884
Non-syndromic genetic hearing loss Orphanet_87884
Familial progressive heart block Orphanet_871
Primary adult heart tumor Orphanet_874
Primary pediatric heart tumor Orphanet_875
Transgrediens palmoplantar keratoderma of Siemens Orphanet_87503
Cardiac tumor of child Orphanet_875
Heart tumor of child Orphanet_875