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
HCL-C Orphanet_58017
ITPN Orphanet_580572
MPS2 Orphanet_580
MPSII Orphanet_580
Osteoblastoma Orphanet_58040
Hunter syndrome Orphanet_580
Leukemic reticuloendotheliosis Orphanet_58017
Mucopolysaccharidosis type 2 Orphanet_580
Mucopolysaccharidosis type II Orphanet_580
Lethal brain and heart developmental defects Orphanet_580933
Classic hairy cell leukemia Orphanet_58017
Punctate inner choroidopathy Orphanet_580951
Iduronate 2-sulfatase deficiency Orphanet_580
QRICH1-related intellectual disability-chondrodysplasia syndrome Orphanet_580940
Intraductal tubulopapillary neoplasm of pancreas Orphanet_580572