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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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Maternal uniparental disomy of chromosome 4
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Orphanet_96180 |
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Paternal uniparental disomy of chromosome 5
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Orphanet_96190 |
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Maternal uniparental disomy of chromosome 6
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Orphanet_96181 |
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Paternal uniparental disomy of chromosome 6
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Orphanet_96191 |
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Paternal uniparental disomy of chromosome 7
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Orphanet_96192 |
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Maternal uniparental disomy of chromosome 9
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Orphanet_96183 |
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Beckwith-Wiedemann syndrome due to 11p15 microduplication
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Orphanet_96076 |
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Kleefstra syndrome due to 9q subtelomeric deletion
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Orphanet_96147 |
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Kleefstra syndrome due to 9q34 microdeletion
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Orphanet_96147 |
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46,XY DSD due to complete LH receptor inactivation
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Orphanet_96265 |
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46,XY DSD due to complete LH resistance
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Orphanet_96265 |
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46,XY DSD due to complete luteinizing hormone resistance
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Orphanet_96265 |
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Kleefstra syndrome due to del(9)(q34)
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Orphanet_96147 |
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Kleefstra syndrome due to monosomy 9q34
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Orphanet_96147 |
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46,XY DSD due to partial LH receptor inactivation
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Orphanet_96266 |
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