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
CID with expansion of gamma delta T cells Orphanet_231154
Autosomal dominant generalized dystrophic epidermolysis bullosa Orphanet_231568
X-linked isolated growth hormone deficiency Orphanet_231692
Congenital isolated growth hormone deficiency type IA Orphanet_231662
Congenital isolated growth hormone deficiency type IB Orphanet_231671
Congenital isolated growth hormone deficiency type II Orphanet_231679
Congenital isolated growth hormone deficiency type III Orphanet_231692
Erythema palmare hereditarium Orphanet_231031
Isolated growth hormone deficiency type IA Orphanet_231662
Isolated growth hormone deficiency type IB Orphanet_231671
Isolated growth hormone deficiency type II Orphanet_231679
Isolated growth hormone deficiency type III Orphanet_231692
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Orphanet_2314
High-grade dysplasia in patients with Barrett esophagus Orphanet_231080
Familial generalized lentiginosis Orphanet_231040