ORDO Find_IDs Find_Terms Annotation
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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
Langer-Giedion syndrome Orphanet_502
Cochleovestibular malformation Orphanet_502305
Weiss-Kruszka Syndrome Orphanet_502430
Proximal del(4)(q25) Orphanet_502437
Pleural mesothelioma Orphanet_50251
Alkaline ceramidase 3 deficiency Orphanet_502444
Proximal monosomy 4q25 Orphanet_502437
Squamous cell carcinoma of oral cavity and lip Orphanet_502369
Squamous cell carcinoma of the lip Orphanet_502366
Squamous cell carcinoma of the oral cavity Orphanet_502363
ACER3-related early childhood-onset progressive leukodystrophy Orphanet_502444
Cochlear nerve deficiency Orphanet_502318
4q25 proximal deletion syndrome Orphanet_502437
Metopic ridging-ptosis-facial dysmorphism syndrome Orphanet_502430
Erythema multiforme major Orphanet_502499