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
Papillary capillary hemangioma Orphanet_673543
Targetoid hemosiderotic hemangioma Orphanet_675362
Large segmental hemangioma Orphanet_675380
Littoral cell hemangioma of the spleen Orphanet_673538
Tumor of hematopoietic and lymphoid tissues Orphanet_68347
Keratitis fugax hereditaria Orphanet_647815
Keratoendotheliitis fugax hereditaria Orphanet_647815
Atrophia bulborum hereditaria Orphanet_649
Adynamia episodica hereditaria Orphanet_682
COQ7-related distal hereditary motor neuropathy Orphanet_658778
Complete growth hormone insensitivity Orphanet_633
Primary growth hormone insensitivity Orphanet_633
Primary growth hormone resistance Orphanet_633
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency Orphanet_641368
Congenital isolated hyperinsulinism Orphanet_657