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
DURS Orphanet_233
Duane syndrome Orphanet_233
Stilling-Turk-Duane syndrome Orphanet_233
Hemangioma-thrombocytopenia syndrome Orphanet_2330
Kasabach-Merritt phenomenon Orphanet_2330
Kawasaki disease Orphanet_2331
KBG syndrome Orphanet_2332
Kenny syndrome Orphanet_2333
Kenny-Caffey syndrome Orphanet_2333
Hereditary keratitis Orphanet_2334
Isolated punctate PPK Orphanet_2338
Keratosis follicularis-dwarfism-cerebral atrophy syndrome Orphanet_2339
Autosomal dominant keratitis Orphanet_2334
Diffuse palmoplantar keratoderma, Bothnia type Orphanet_2337
Diffuse palmoplantar keratoderma, Bothnian type Orphanet_2337