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
Congenital myasthenic syndrome Orphanet_590
Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome Orphanet_59303
McLeod neuroacanthocytosis syndrome Orphanet_59306
X-linked McLeod syndrome Orphanet_59306
Atypical Timothy syndrome Orphanet_595109
Fibrous dysplasia/McCune-Albright syndrome Orphanet_595216
SETD2-related overgrowth syndrome Orphanet_597738
Snijders Blok-Campeau syndrome Orphanet_599082
Multisystem inflammatory syndrome in children and adults Orphanet_598363
CID due to RELA haploinsufficiency Orphanet_596759
Perivascular epithelioid tumour Orphanet_595133
Distal myopathy type 1 Orphanet_59135
Timothy syndrome type 1 Orphanet_595098
Timothy syndrome type 2 Orphanet_595105
Oculocutaneous albinism type 8 Orphanet_597733