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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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Heme oxygenase-1 deficiency
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Orphanet_562509 |
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Methanethiol oxidase deficiency
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Orphanet_562538 |
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Galactose mutarotase deficiency
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Orphanet_570422 |
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N-acetylglucosamine 1-phosphotransferase deficiency
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Orphanet_576 |
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Iduronate 2-sulfatase deficiency
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Orphanet_580 |
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Arylsulfatase B deficiency
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Orphanet_583 |
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N-acetylgalactosamine 4-sulfatase deficiency
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Orphanet_583 |
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Multiple sulfatase deficiency
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Orphanet_585 |
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Acquired F8 deficiency
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Orphanet_599480 |
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Acquired F9 deficiency
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Orphanet_599485 |
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Riboflavin transporter deficiency 2
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Orphanet_572543 |
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Riboflavin transporter deficiency 3
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Orphanet_572550 |
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Congenital NAD deficiency disorder
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Orphanet_521438 |
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Phosphoserine aminotransferase deficiency, prenatal form
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Orphanet_583602 |
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3-phosphoglycerate dehydrogenase deficiency, prenatal form
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Orphanet_583607 |
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