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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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Inherited cancer-predisposing syndrome
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Orphanet_140162 |
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Charlie M syndrome
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Orphanet_1406 |
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Hyperlipidemia due to HL deficiency
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Orphanet_140905 |
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Hyperlipidemia due to HTGL deficiency
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Orphanet_140905 |
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Hyperlipidemia due to hepatic lipase deficiency
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Orphanet_140905 |
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Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
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Orphanet_140905 |
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Hyperlipidemia due to hepatic triglyceride lipase deficiency
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Orphanet_140905 |
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PPK, Nagashima type
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Orphanet_140966 |
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Primary intraosseous venous malformation
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Orphanet_140436 |
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Stapes ankylosis with broad thumbs and toes
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Orphanet_140917 |
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