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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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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/
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20,514 entries
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There is 0 pattern entry.
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Cayler cardiofacial syndrome
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Orphanet_567 |
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Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
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Orphanet_568056 |
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Osteochondrosis of the metatarsal bone
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Orphanet_564003 |
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Osteochondrosis of the tarsal bone
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Orphanet_563991 |
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Resistance to thyroid hormone alpha
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Orphanet_566231 |
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Resistance to thyroid hormone beta
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Orphanet_566243 |
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Resistance to thyroid hormone due to a mutation in TRa
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Orphanet_566231 |
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Resistance to thyroid hormone due to a mutation in TRb
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Orphanet_566243 |
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Syndromic congenital tufting enteropathy
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Orphanet_563708 |
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Microcystic stromal tumor
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Orphanet_569248 |
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Microphthalmia, Lenz type
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Orphanet_568 |
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Autoimmune hepatitis type 1
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Orphanet_563576 |
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Autoimmune hepatitis type 2
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Orphanet_563581 |
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Systemic disease with glomerulopathy as a major feature
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Orphanet_567554 |
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Idiopathic SSNS with secondary steroid resistance
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Orphanet_567546 |
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