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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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HPS10
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Orphanet_664511 |
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HPS2
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Orphanet_664500 |
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NRVT
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Orphanet_664912 |
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OCT deficiency
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Orphanet_664 |
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OTC deficiency
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Orphanet_664 |
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MGP-related SED
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Orphanet_664377 |
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MEF2C-related syndrome
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Orphanet_664410 |
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Liang-Wang syndrome
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Orphanet_664438 |
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Livedo-like dermatitis
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Orphanet_664787 |
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Nicolau syndrome
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Orphanet_664787 |
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Neonatal RVT
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Orphanet_664912 |
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NEDMABA disorder
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Orphanet_664923 |
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Early-onset severe Hermansky-Pudlak syndrome with deafness
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Orphanet_664511 |
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Ornithine carbamoyltransferase deficiency
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Orphanet_664 |
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Ornithine transcarbamylase deficiency
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Orphanet_664 |
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