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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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UPD(X)
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Orphanet_263793 |
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MOPD type II
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Orphanet_2637 |
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Polysomy of X chromosome
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Orphanet_263723 |
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X and Y chromosomal anomaly
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Orphanet_263749 |
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X chromosome number anomaly
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Orphanet_263714 |
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Y chromosome number anomaly
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Orphanet_263746 |
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X chromosome number anomaly with female phenotype
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Orphanet_263717 |
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X chromosome number anomaly with male phenotype
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Orphanet_263720 |
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Partial trisomy of chromosome Xp
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Orphanet_263775 |
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Partial trisomy of chromosome Xq
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Orphanet_263783 |
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Partial deletion of chromosome X
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Orphanet_263726 |
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Partial monosomy of chromosome X
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Orphanet_263726 |
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Partial duplication of chromosome X
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Orphanet_263768 |
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Partial trisomy of chromosome X
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Orphanet_263768 |
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Uniparental disomy of chromosome X
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Orphanet_263793 |
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