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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.
Del(12)(q14)
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Orphanet_94063 |
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Deletion 12q14
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Orphanet_94063 |
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Monosomy 12q14
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Orphanet_94063 |
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Osteopoikilosis-short stature-intellectual disability syndrome
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Orphanet_94063 |
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12q14 microdeletion syndrome
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Orphanet_94063 |
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