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
MIMIS Orphanet_572768
MISSLA Orphanet_572773
RTD2 Orphanet_572543
RTD3 Orphanet_572550
BPES plus Orphanet_572333
OAS1 deficiency Orphanet_572428
Microcephaly-micromelia syndrome Orphanet_572768
BPES type 1 Orphanet_572354
BPES type 2 Orphanet_572361
Brachydactyly type B1 Orphanet_572385
MHC class II deficiency Orphanet_572
Microcephaly-short stature-limb abnormalities syndrome Orphanet_572773
Immunodeficiency by defective expression of MHC class II Orphanet_572
Riboflavin transporter deficiency 2 Orphanet_572543
Riboflavin transporter deficiency 3 Orphanet_572550