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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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Congenital smooth muscle hamartoma
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Orphanet_263435 |
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Isolated acute necrotizing encephalopathy
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Orphanet_263524 |
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Well-differentiated thymic neuroendocrine carcinoma
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Orphanet_263331 |
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Moderately-differentiated thymic neuroendocrine carcinoma
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Orphanet_263335 |
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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 duplication of chromosome 22q
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Orphanet_263004 |
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Partial trisomy of chromosome 22q
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Orphanet_263004 |
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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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