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
Orocraniodigital syndrome Orphanet_2319
JS type B Orphanet_2318
Variant of GBS Orphanet_231413
Acute panautonomic GBS Orphanet_231457
Congenital isolated GH deficiency type IA Orphanet_231662
Congenital isolated GH deficiency type IB Orphanet_231671
Congenital isolated GH deficiency type II Orphanet_231679
Congenital isolated GH deficiency type III Orphanet_231692
Variant of Guillain-Barré syndrome Orphanet_231413
Acute panautonomic Guillain-Barré syndrome Orphanet_231457
Acquired hemoglobin H disease Orphanet_231401
Autosomal dominant HIES due to STAT3 deficiency Orphanet_2314
Late-onset localized JEB-intellectual disability syndrome Orphanet_231556
Primary unilateral adrenal hyperplasia Orphanet_231580
Pure aldosterone-producing adrenocortical carcinoma Orphanet_231625