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
Cayler cardiofacial syndrome Orphanet_567
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome Orphanet_568056
Osteochondrosis of the metatarsal bone Orphanet_564003
Osteochondrosis of the tarsal bone Orphanet_563991
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
Syndromic congenital tufting enteropathy Orphanet_563708
Microcystic stromal tumor Orphanet_569248
Microphthalmia, Lenz type Orphanet_568
Autoimmune hepatitis type 1 Orphanet_563576
Autoimmune hepatitis type 2 Orphanet_563581
Systemic disease with glomerulopathy as a major feature Orphanet_567554
Idiopathic SSNS with secondary steroid resistance Orphanet_567546