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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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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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Partial deletion of chromosome Xp
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Orphanet_263731 |
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Partial monosomy of chromosome Xp
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Orphanet_263731 |
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Partial duplication of chromosome Xp
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Orphanet_263775 |
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Partial deletion of chromosome Xq
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Orphanet_263756 |
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Partial monosomy of chromosome Xq
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Orphanet_263756 |
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Partial duplication of chromosome Xq
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Orphanet_263783 |
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Congenital disorder of glycosylation type 1o
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Orphanet_263494 |
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Congenital disorder of glycosylation type 2g
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Orphanet_263508 |
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Congenital disorder of glycosylation type 2i
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Orphanet_263487 |
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Congenital disorder of glycosylation type 2j
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Orphanet_263501 |
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Congenital disorder of glycosylation type IIg
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Orphanet_263508 |
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Congenital disorder of glycosylation type IIi
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Orphanet_263487 |
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Congenital disorder of glycosylation type IIj
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Orphanet_263501 |
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