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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 insensitivity to pain with anhidrosis
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Orphanet_642 |
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Perrault syndrome type 1
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Orphanet_642945 |
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Perrault syndrome type 2
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Orphanet_642976 |
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Familial hyperaldosteronism type IV
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Orphanet_642671 |
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Congenital pulmonary vein stenosis
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Orphanet_642071 |
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Primary pulmonary vein stenosis
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Orphanet_642071 |
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POF associated with fragile X premutation
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Orphanet_642691 |
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POI associated with fragile X premutation
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Orphanet_642691 |
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Spondyloepimetaphyseal dysplasia with joint laxity type 1
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Orphanet_642099 |
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Spondyloepimetaphyseal dysplasia with joint laxity type 3
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Orphanet_642085 |
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