ORDO Find_IDs Find_Terms Annotation
manager
language -
license -
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
Epidermolysis bullosa simplex with extracutaneous involvement Orphanet_595351
Epidermolysis bullosa simplex without extracutaneous involvement Orphanet_595346
Fibrous dysplasia/McCune-Albright spectrum Orphanet_595216
Atypical Timothy syndrome Orphanet_595109
Fibrous dysplasia/McCune-Albright syndrome Orphanet_595216
Perivascular epithelioid tumour Orphanet_595133
Timothy syndrome type 1 Orphanet_595098
Timothy syndrome type 2 Orphanet_595105