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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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Congenital hereditary stromal dystrophy
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Orphanet_101068 |
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X-linked hyper-IgM syndrome
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Orphanet_101088 |
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Situs inversus totalis
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Orphanet_101063 |
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PPK-CA, Stevanovic type
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Orphanet_1010 |
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Hyper-IgM syndrome type 1
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Orphanet_101088 |
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Charcot-Marie-Tooth disease type 1A
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Orphanet_101081 |
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Charcot-Marie-Tooth disease type 1B
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Orphanet_101082 |
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Charcot-Marie-Tooth disease type 1C
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Orphanet_101083 |
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Charcot-Marie-Tooth disease type 1D
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Orphanet_101084 |
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Charcot-Marie-Tooth disease type 1F
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Orphanet_101085 |
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Hyper-IgM syndrome type 2
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Orphanet_101089 |
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Hyper-IgM syndrome type 3
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Orphanet_101090 |
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Hyper-IgM syndrome type 4
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Orphanet_101091 |
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Hyper-IgM syndrome type 5
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Orphanet_101092 |
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Congenital aortic valve dysplasia
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Orphanet_101043 |
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