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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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Mosaic trisomy chromosome 10
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Orphanet_96063 |
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Mosaic trisomy chromosome 22
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Orphanet_96068 |
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Mosaic trisomy chromosome 4
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Orphanet_96059 |
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Mosaic trisomy chromosome 5
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Orphanet_96060 |
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Mosaic trisomy chromosome 8
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Orphanet_96061 |
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Rare genetic deafness
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Orphanet_96210 |
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6p subtelomeric deletion syndrome
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Orphanet_96125 |
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9q subtelomeric deletion syndrome
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Orphanet_96147 |
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Maternal uniparental disomy of chromosome 16
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Orphanet_96185 |
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Maternal uniparental disomy of chromosome 2
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Orphanet_96179 |
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Maternal uniparental disomy of chromosome 20
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Orphanet_96186 |
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Paternal uniparental disomy of chromosome 20
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Orphanet_96194 |
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Maternal uniparental disomy of chromosome 21
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Orphanet_96187 |
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Paternal uniparental disomy of chromosome 21
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Orphanet_96195 |
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Maternal uniparental disomy of chromosome 22
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Orphanet_96188 |
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