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
HLRCC Orphanet_523
MCUL Orphanet_523
Hereditary leiomyomatosis Orphanet_523
Reed syndrome Orphanet_523
Pediatric-onset glaucoma Orphanet_523000
DDON syndrome Orphanet_52368
Mohr-Tranebjaerg syndrome Orphanet_52368
Familial leiomyomatosis and renal cell cancer Orphanet_523
Hereditary leiomyomatosis and renal cell cancer Orphanet_523
Multiple cutaneous and uterine leiomyomas Orphanet_523
Familial multiple cutaneous leiomyomas Orphanet_523
Hereditary multiple cutaneous leiomyomas Orphanet_523
Familial leiomyomatosis cutis et uteri Orphanet_523
Hearing loss-dystonia-optic neuronopathy syndrome Orphanet_52368
Deafness-dystonia-optic neuronopathy syndrome Orphanet_52368