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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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Saethre-Chotzen syndrome
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Orphanet_794 |
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Localized EBS
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Orphanet_79400 |
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Carmi syndrome
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Orphanet_79403 |
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JEB inversa
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Orphanet_79405 |
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Late-onset JEB
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Orphanet_79406 |
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RDEB inversa
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Orphanet_79409 |
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Self-improving DEB
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Orphanet_79411 |
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Hermansky-Pudlak syndrome
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Orphanet_79430 |
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AHO-PPHP syndrome
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Orphanet_79445 |
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Milroy disease
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Orphanet_79452 |
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Nonne-Milroy lymphedema
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Orphanet_79452 |
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Cutaneous mastocytoma
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Orphanet_79455 |
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Multiple mastocytoma
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Orphanet_79455 |
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Solitary mastocytoma
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Orphanet_79455 |
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Urticaria pigmentosa
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Orphanet_79457 |
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