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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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Stickler syndrome type 1
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Orphanet_90653 |
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Charcot-Marie-Tooth disease type 1E
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Orphanet_90658 |
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Cockayne syndrome type 2
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Orphanet_90322 |
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Otopalatodigital syndrome type 2
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Orphanet_90652 |
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Stickler syndrome type 2
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Orphanet_90654 |
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Cockayne syndrome type 3
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Orphanet_90324 |
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Charcot-Marie-Tooth disease type 6
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Orphanet_90120 |
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Ehlers-Danlos syndrome type 6B
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Orphanet_90354 |
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Cockayne syndrome type I
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Orphanet_90321 |
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Hereditary lymphedema type II
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Orphanet_90186 |
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Cockayne syndrome type II
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Orphanet_90322 |
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Cockayne syndrome type III
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Orphanet_90324 |
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Typical hemolytic uremic syndrome
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Orphanet_90038 |
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Non-infectious posterior uveitis
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Orphanet_90061 |
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Xeroderma pigmentosum variant
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Orphanet_90342 |
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