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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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Agenesis of the superior caval vein
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Orphanet_99114 |
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Absence of the superior vena cava
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Orphanet_99114 |
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Agenesis of the superior vena cava
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Orphanet_99114 |
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Bifidity of the uvula
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Orphanet_99771 |
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Virilizing ovarian tumor
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Orphanet_99916 |
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Familial medullary thyroid carcinoma
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Orphanet_99361 |
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Resistance to thyrotropin-releasing hormone syndrome
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Orphanet_99832 |
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MSMD due to complete IFNgammaR1 deficiency
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Orphanet_99898 |
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MSMD due to complete interferon gamma receptor 1 deficiency
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Orphanet_99898 |
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GSD due to muscle beta-enolase deficiency
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Orphanet_99849 |
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Glycogenosis due to muscle beta-enolase deficiency
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Orphanet_99849 |
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Atypical lipomatous tumor
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Orphanet_99971 |
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Placental site trophoblastic tumor
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Orphanet_99928 |
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Aorto-right ventricular tunnel
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Orphanet_99070 |
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Aorto-left ventricular tunnel
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Orphanet_99071 |
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