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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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MHBD deficiency, classic type
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Orphanet_391428 |
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Isolated median cleft face syndrome
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Orphanet_391474 |
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Asparagine synthetase deficiency
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Orphanet_391376 |
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2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
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Orphanet_391417 |
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SURF1-related severe demyelinating Charcot-Marie-Tooth disease
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Orphanet_391351 |
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Classic Hodgkin disease
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Orphanet_391 |
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SURF1-related Charcot-Marie-Tooth disease type 4
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Orphanet_391351 |
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ALX3-related frontonasal dysplasia
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Orphanet_391474 |
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Persistent combined dystonia
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Orphanet_391711 |
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Rare genetic dystonia
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Orphanet_391799 |
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Rare genetic dystonic disorder
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Orphanet_391799 |
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Adult-onset myasthenia gravis
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Orphanet_391490 |
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Childhood myasthenia gravis
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Orphanet_391497 |
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Juvenile myasthenia gravis
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Orphanet_391497 |
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Neonatal myasthenia gravis
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Orphanet_391504 |
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