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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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Del(X)(p21)
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Orphanet_261476 |
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Dup(X)(q27.3q28)
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Orphanet_261483 |
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Onychoosteodysplasia
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Orphanet_2614 |
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Nail-patella syndrome
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Orphanet_2614 |
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Turner-Kieser syndrome
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Orphanet_2614 |
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Complex GKD
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Orphanet_261476 |
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Trisomy Xq27.3-q28
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Orphanet_261483 |
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Trisomy Xq27.3q28
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Orphanet_261483 |
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Kleefstra syndrome
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Orphanet_261494 |
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Xp21 contiguous gene deletion syndrome
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Orphanet_261476 |
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Complex glycerol kinase deficiency
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Orphanet_261476 |
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Xp21 deletion syndrome
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Orphanet_261476 |
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Xp21 microdeletion syndrome
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Orphanet_261476 |
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Xq27.3-q28 microduplication syndrome
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Orphanet_261483 |
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Xq27.3q28 duplication syndrome
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Orphanet_261483 |
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