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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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Autosomal anomaly
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Orphanet_98127 |
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Autosomal duplication
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Orphanet_98130 |
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Autosomal trisomy
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Orphanet_98130 |
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Allosome anomaly
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Orphanet_98155 |
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Sex-chromosome anomaly
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Orphanet_98155 |
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Internal carotid absence
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Orphanet_981 |
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Allosome number anomaly
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Orphanet_98156 |
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Sex-chromosome number anomaly
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Orphanet_98156 |
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Allosome structural anomaly
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Orphanet_98157 |
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Sex-chromosome structural anomaly
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Orphanet_98157 |
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Partial autosomal deletion
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Orphanet_98142 |
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Autosomal uniparental disomy
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Orphanet_98152 |
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Maternal uniparental disomy
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Orphanet_98153 |
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Paternal uniparental disomy
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Orphanet_98154 |
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Partial autosomal duplication/triplication
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Orphanet_98132 |
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