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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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Monosomy 16p13.2
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Orphanet_500055 |
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OTULIN deficiency
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Orphanet_500062 |
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Thauvin-Robinet-Faivre syndrome
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Orphanet_500095 |
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MARCH syndrome
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Orphanet_500135 |
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ZTTK syndrome
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Orphanet_500150 |
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Zhu-Tokita-Takenouchi-Kim syndrome
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Orphanet_500150 |
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Witteveen-Kolk syndrome
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Orphanet_500163 |
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PMSE syndrome
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Orphanet_500533 |
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Lafora disease
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Orphanet_501 |
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Langer-Giedion syndrome
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Orphanet_502 |
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Cochleovestibular malformation
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Orphanet_502305 |
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Weiss-Kruszka Syndrome
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Orphanet_502430 |
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Proximal del(4)(q25)
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Orphanet_502437 |
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Pleural mesothelioma
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Orphanet_50251 |
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Larsen syndrome
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Orphanet_503 |
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