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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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CPFD
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Orphanet_633228 |
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PFFD
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Orphanet_633228 |
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Laron syndrome
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Orphanet_633 |
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Laron-type dwarfism
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Orphanet_633 |
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Diets-Jongmans Syndrome
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Orphanet_633004 |
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Kilquist syndrome
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Orphanet_633021 |
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Delpire-McNeill syndrome
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Orphanet_633024 |
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BDV syndrome
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Orphanet_633028 |
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Blakemore-Durmaz-Vasileiou syndrome
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Orphanet_633028 |
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Baralle-Macken syndrome
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Orphanet_633035 |
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PAICS deficiency
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Orphanet_633099 |
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Preaxial brachydactyly, PAX3 type
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Orphanet_633211 |
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Preaxial digit brachydactyly-webbed fingers
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Orphanet_633211 |
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GH receptor deficiency
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Orphanet_633 |
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Phosphoribosylaminoimidazole carboxylase deficiency
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Orphanet_633099 |
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