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
SPEN-related neurodevelopmental disorder Orphanet_662234
Phelan-McDermid syndrome due to 22q13.3 deletion Orphanet_662169
Phelan-McDermid syndrome due to SHANK3 mutation Orphanet_662172
Small bowel duplication Orphanet_662456
Small intestine duplication Orphanet_662456
AML M7 in adult Orphanet_662934
Acute myeloid leukemia M7 in adult Orphanet_662934
Acute megakaryoblastic leukemia in adult Orphanet_662934
Acute megakaryocytic leukemia in adult Orphanet_662934
Duplication cyst of the pyloric canal Orphanet_662405
Duplication cyst of the pylorus Orphanet_662405
Abnormally invasive placenta Orphanet_662721
Congenital double pylorus Orphanet_662405
Placenta accreta spectrum Orphanet_662721
Placenta accreta spectrum disorder Orphanet_662721