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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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Autosomal recessive spinocerebellar ataxia type 15
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Orphanet_404499 |
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DNMT3A-related overgrowth syndrome
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Orphanet_404443 |
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Tatton-Brown-Rahman overgrowth syndrome
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Orphanet_404443 |
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Alacrimia-choreoathetosis-liver dysfunction syndrome
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Orphanet_404454 |
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B-K mole syndrome
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Orphanet_404560 |
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Melanoma-pancreatic cancer syndrome
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Orphanet_404560 |
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Vasculitis due to ADA2 deficiency
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Orphanet_404553 |
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Vasculitis due to DADA2
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Orphanet_404553 |
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Familial hyperaldosteronism type 2
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Orphanet_404 |
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Familial hyperaldosteronism type II
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Orphanet_404 |
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Genetic syndrome with limb malformations as a major feature
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Orphanet_404577 |
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Genetic syndrome with limb reduction defects
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Orphanet_404574 |
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