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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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Homozygous familial hypercholesterolemia
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Orphanet_391665 |
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CIP with hyperhidrosis and gastrointestinal dysfunction
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Orphanet_391397 |
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HSAN with hyperhidrosis and gastrointestinal dysfunction
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Orphanet_391397 |
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X-linked calvarial hyperostosis
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Orphanet_391327 |
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2-methyl-3-hydroxybutyric aciduria, infantile type
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Orphanet_391428 |
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HSD10 deficiency, infantile type
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Orphanet_391428 |
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HSD10 disease, infantile type
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Orphanet_391428 |
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MHBD deficiency, infantile type
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Orphanet_391428 |
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Classic Hodgkin lymphoma
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Orphanet_391 |
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Adult-onset acquired myasthenia
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Orphanet_391490 |
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Juvenile acquired myasthenia
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Orphanet_391497 |
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Adult-onset autoimmune myasthenia gravis
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Orphanet_391490 |
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Juvenile autoimmune myasthenia gravis
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Orphanet_391497 |
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Transient neonatal myasthenia gravis
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Orphanet_391504 |
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2-methyl-3-hydroxybutyric aciduria, neonatal type
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Orphanet_391457 |
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