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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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Rare tumoral disease
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Orphanet_250908 |
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Gestational trophoblastic disease
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Orphanet_254685 |
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Maternally-inherited Leigh disease
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Orphanet_255210 |
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Idiopathic Moyamoya disease
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Orphanet_2573 |
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Sickle cell disease associated with another hemoglobin anomaly
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Orphanet_251355 |
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Sickle cell-beta-thalassemia disease syndrome
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Orphanet_251359 |
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HPFH-sickle cell disease syndrome
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Orphanet_251380 |
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Paternal uniparental disomy of chromosome 1
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Orphanet_251004 |
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Maternal uniparental disomy of chromosome 1
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Orphanet_251009 |
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Pyruvate metabolism disorder
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Orphanet_254746 |
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Krebs cycle disorder
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Orphanet_254749 |
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TCA cycle disorder
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Orphanet_254749 |
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Unspecified mitochondrial disorder
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Orphanet_254837 |
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X-linked immunoneurologic disorder
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Orphanet_2571 |
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Mulibrey growth disorder
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Orphanet_2576 |
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