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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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Arthrogryposis-severe scoliosis syndrome
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Orphanet_65720 |
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16q22 deletion syndrome
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Orphanet_658540 |
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Bronchiolitis obliterans syndrome
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Orphanet_658602 |
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EED-related overgrowth syndrome
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Orphanet_659396 |
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SUZ12-related overgrowth syndrome
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Orphanet_659463 |
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Marbach-Rustad progeroid syndrome
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Orphanet_659873 |
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PRR12-related neuroocular syndrome
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Orphanet_659904 |
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Long QT syndrome type 8
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Orphanet_65283 |
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Long QT syndrome-syndactyly syndrome
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Orphanet_65283 |
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AD-CID due to ERBIN deficiency
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Orphanet_656912 |
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Epilepsy due to FCD
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Orphanet_65683 |
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Congenital insensitivity to pain syndrome, Marsili type
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Orphanet_653728 |
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Renal embryonic tumor
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Orphanet_654 |
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Charcot-Marie-Tooth disease type 1
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Orphanet_65753 |
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Charcot-Marie-Tooth neuropathy type 1
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Orphanet_65753 |
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