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
AR-HED Orphanet_248
Melorheostosis Orphanet_2485
Neurocutaneous melanocytosis Orphanet_2481
Neurocutaneous melanosis Orphanet_2481
Melhem-Fahl syndrome Orphanet_2482
Melkersson-Rosenthal syndrome Orphanet_2483
Isolated delta-SPD Orphanet_248340
Isolated dense-SPD Orphanet_248340
Melnick-Needles osteodysplasty Orphanet_2484
Melnick-Needles syndrome Orphanet_2484
Familial hypodysfibrinogenemia Orphanet_248408
Fried-Goldberg-Mundel syndrome Orphanet_2487
Rare deficiency anemia Orphanet_248293
Constitutional deficiency anemia Orphanet_248296
Autosomal recessive anhidrotic ectodermal dysplasia Orphanet_248