ORDO Find_IDs Find_Terms Annotation
manager
language -
license -
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
Aprosencephaly/atelencephaly spectrum Orphanet_566847
Atelencephalic microcephaly Orphanet_566852
Brailsford disease Orphanet_566943
Mueller-Weiss syndrome Orphanet_566943
Left sided atrial isomerism Orphanet_566862
Acute mast cell leukemia Orphanet_566393
Chronic mast cell leukemia Orphanet_566396
Isomerism of left atrial appendage Orphanet_566862
Mueller-Weiss osteonecrosis of the tarsal bone Orphanet_566943
Congenital autosomal recessive small-platelet thrombocytopenia Orphanet_566192
Resistance to thyroid hormone alpha Orphanet_566231
Resistance to thyroid hormone beta Orphanet_566243
Resistance to thyroid hormone due to a mutation in TRa Orphanet_566231
Resistance to thyroid hormone due to a mutation in TRb Orphanet_566243