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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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Mucopolysaccharidosis type 7
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Orphanet_584 |
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Monocarboxylate transporter 8 deficiency
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Orphanet_59 |
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Acquired hemophilia A
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Orphanet_599480 |
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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
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Orphanet_5 |
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Familial apolipoprotein A-V deficiency
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Orphanet_530849 |
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Familial apolipoprotein A5 deficiency
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Orphanet_530849 |
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PBC/PSC and AIH overlap syndrome
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Orphanet_562639 |
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Factor V Amsterdam bleeding disorder
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Orphanet_599579 |
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Acquired hemophilia B
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Orphanet_599485 |
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Philadelphia chromosome-like B-ALL
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Orphanet_585909 |
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Diffuse large B-cell lymphoma
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Orphanet_544 |
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Brachydactyly type B1
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Orphanet_572385 |
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AML with BCR-ABL1
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Orphanet_585867 |
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Transient antenatal Bartter syndrome
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Orphanet_570371 |
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HAE with C1 inhibitor deficiency
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Orphanet_528623 |
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