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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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SMAS
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Orphanet_622099 |
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Methylcobalamin deficiency
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Orphanet_622 |
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Autoimmune encephalitis
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Orphanet_622014 |
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Wilkie syndrome
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Orphanet_622099 |
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Meester-Loeys syndrome
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Orphanet_622925 |
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Spondylometaphyseal dysplasia, Sedaghatian-like type
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Orphanet_622934 |
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Superior mesenteric artery syndrome
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Orphanet_622099 |
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Homocystinuria without methylmalonic aciduria
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Orphanet_622 |
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SBDS-related severe neonatal SMD
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Orphanet_622934 |
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SBDS-related severe neonatal spondylometaphyseal dysplasia
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Orphanet_622934 |
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Rare genetic nevus
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Orphanet_622914 |
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Genetic autoinflammatory syndrome with skin involvement
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Orphanet_622720 |
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X-linked severe syndromic TAAD
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Orphanet_622925 |
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Functional methionine synthase deficiency
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Orphanet_622 |
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