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
DYT5b Orphanet_101150
Autosomal recessive Segawa syndrome Orphanet_101150
Tyrosine hydroxylase deficiency Orphanet_101150
Autosomal recessive dopa-responsive dystonia Orphanet_101150
Tyrosine hydroxylase-deficient dopa-responsive dystonia Orphanet_101150