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
CIL-F Orphanet_583097
MPS6 Orphanet_583
MPSVI Orphanet_583
ARSB deficiency Orphanet_583
ASB deficiency Orphanet_583
Maroteaux-Lamy disease Orphanet_583
Mucopolysaccharidosis type 6 Orphanet_583
Mucopolysaccharidosis type VI Orphanet_583
Arylsulfatase B deficiency Orphanet_583
N-acetylgalactosamine 4-sulfatase deficiency Orphanet_583
Phosphoserine aminotransferase deficiency, prenatal form Orphanet_583602
3-phosphoglycerate dehydrogenase deficiency, prenatal form Orphanet_583607
3-phosphoserine phosphatase deficiency, prenatal form Orphanet_583612
Facial infused lipomatosis Orphanet_583097
Fibroadipose infiltrating lipomatosis Orphanet_583097