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
X-linked osteoporosis with fractures Orphanet_391330
Combined immunodeficiency with hypereosinophilia Orphanet_39041
Cerebro-cutaneous syndrome with iron overload Orphanet_397922
Periodic paralysis with later-onset distal motor neuropathy Orphanet_397750
Hereditary cryohydrocytosis with normal stomatin Orphanet_398088
Rare disorder with obstructive azoospermia Orphanet_399824
Male infertility with spermatogenesis disorder Orphanet_399775
Periodic paralysis with transient compartment-like syndrome Orphanet_397755