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
Early-onset AID due to HA20 Orphanet_674762
Serous maculopathy due to aspecific choroidopathy Orphanet_674958
Congenital hypomelanotic freckle Orphanet_674935
Non-syndromic congenital functional defect of phagocytes Orphanet_674896
Non-syndromic constitutional functional phagocyte defect Orphanet_674896
Paraneoplastic uveal melanocytic hyperplasia Orphanet_674968
Solitary hypopigmented nevus of the retinal pigment epithelium Orphanet_674935
Non-syndromic congenital phagocyte functional defect Orphanet_674896
Isolated retinal racemose hemangioma Orphanet_674924
Paramacular albinotic spot syndrome Orphanet_674935
Isolated angioid streaks Orphanet_674943
Diffuse unilateral subacute neuroretinitis Orphanet_674947
Unilateral wipe-out syndrome Orphanet_674947
Early-onset autoinflammatory syndrome associated with TNFAIP3 Orphanet_674762
Actinomyopathy-associated syndromic thrombocytopenia Orphanet_674653