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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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CDPX2
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Orphanet_35173 |
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CDPXD
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Orphanet_35173 |
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CPXD
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Orphanet_35173 |
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CSID
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Orphanet_35122 |
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Desmosterolosis
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Orphanet_35107 |
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Galactosialidosis
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Orphanet_351 |
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Goldberg syndrome
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Orphanet_351 |
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P5N deficiency
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Orphanet_35120 |
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UMPH1 deficiency
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Orphanet_35120 |
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Disaccharide intolerance
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Orphanet_35122 |
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Conradi-Hünermann-Happle syndrome
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Orphanet_35173 |
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X-linked dominant chondrodysplasia punctata
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Orphanet_35173 |
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Chondrodystrophia calcificans congenita
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Orphanet_35173 |
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Congenital sucrase-isomaltase deficiency
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Orphanet_35122 |
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Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
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Orphanet_35120 |
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