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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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VLCAD deficiency
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Orphanet_26793 |
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LGMD type 2A
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Orphanet_267 |
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Familial isolated CALSs
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Orphanet_2678 |
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Calpain-3-related LGMD R1
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Orphanet_267 |
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Short chain acyl-CoA dehydrogenase deficiency
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Orphanet_26792 |
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Familial isolated café-au-lait macules
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Orphanet_2678 |
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Familial isolated café-au-lait spots
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Orphanet_2678 |
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Multiple isolated café-au-lait spots
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Orphanet_2678 |
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Multiple isolated café-au-lait syndrome
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Orphanet_2678 |
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Very long chain acyl-CoA dehydrogenase deficiency
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Orphanet_26793 |
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Multiple acyl-CoA dehydrogenase deficiency
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Orphanet_26791 |
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Limb-girdle muscular dystrophy due to calpain deficiency
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Orphanet_267 |
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Limb-girdle muscular dystrophy type 2A
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Orphanet_267 |
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CALs syndrome isolated
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Orphanet_2678 |
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Familial CALMs isolated
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Orphanet_2678 |
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