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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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Velocardiofacial syndrome
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Orphanet_567 |
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BILU syndrome
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Orphanet_567502 |
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Hoffman syndrome
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Orphanet_567502 |
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Secondary SRNS
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Orphanet_567546 |
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Idiopathic SRNS
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Orphanet_567548 |
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Lenz microphthalmia
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Orphanet_568 |
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WILD syndrome
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Orphanet_568056 |
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PIEZO1-related LRHF/GLD
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Orphanet_568062 |
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EPHB4-related LRHF/GLD
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Orphanet_568065 |
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ISCA1 deficiency
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Orphanet_569274 |
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PMPCB deficiency
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Orphanet_569290 |
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AIH type 1
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Orphanet_563576 |
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Atelosteogenesis type 2
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Orphanet_56304 |
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AIH type 2
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Orphanet_563581 |
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Atelosteogenesis type 3
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Orphanet_56305 |
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