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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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Familial hypoalphalipoproteinemia
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Orphanet_425 |
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PFAPA syndrome
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Orphanet_42642 |
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Hypopigmentation-deafness syndrome
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Orphanet_42665 |
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Tietz syndrome
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Orphanet_42665 |
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Familial hypoaldosteronism
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Orphanet_427 |
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PHACE syndrome
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Orphanet_42775 |
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PHACES syndrome
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Orphanet_42775 |
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AD hypocalcemia
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Orphanet_428 |
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Sotos syndrome 2
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Orphanet_420179 |
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GSD type 2, late-onset
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Orphanet_420429 |
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Glycogenosis type 2, late-onset
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Orphanet_420429 |
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LGMD type 2Y
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Orphanet_424261 |
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Mucolipidosis type 3 alpha/beta
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Orphanet_423461 |
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Mucolipidosis type 3 gamma
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Orphanet_423470 |
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PME type 8
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Orphanet_424027 |
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