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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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Pyruvate dehydrogenase E1-beta deficiency
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Orphanet_255138 |
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Pyruvate dehydrogenase E3-binding protein deficiency
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Orphanet_255182 |
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Rare cutaneous LP
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Orphanet_254370 |
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Rare mucosal LP
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Orphanet_254373 |
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Annular atrophic LP
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Orphanet_254411 |
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Mitochondrial DNA-associated Leigh syndrome
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Orphanet_255210 |
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Verloes-Van Maldergem-de Marneffe syndrome
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Orphanet_2551 |
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Intellectual disability, Mietens-Weber type
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Orphanet_2557 |
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Mousa-Al Din-Al Nassar syndrome
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Orphanet_2572 |
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Logopenic variant PPA
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Orphanet_250831 |
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Plectin-related LGMD R17
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Orphanet_254361 |
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SED and SEMD
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Orphanet_253 |
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Microcephaly-microcornea syndrome, Seemanova type
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Orphanet_2528 |
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Metaphyseal chondrodysplasia, Spahr type
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Orphanet_2501 |
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Autosomal recessive Stickler syndrome
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Orphanet_250984 |
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