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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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Atelosteogenesis type 2
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Orphanet_56304 |
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AIH type 2
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Orphanet_563581 |
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BPES type 2
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Orphanet_572361 |
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SCM type 2
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Orphanet_573253 |
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Mucopolysaccharidosis type 2
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Orphanet_580 |
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LQT8 type 2
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Orphanet_595105 |
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Atelosteogenesis type 3
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Orphanet_56305 |
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Mucopolysaccharidosis type 3
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Orphanet_581 |
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Alkaline ceramidase 3 deficiency
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Orphanet_502444 |
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Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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Orphanet_5 |
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Galactosemia type 4
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Orphanet_570422 |
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Mucopolysaccharidosis type 4
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Orphanet_582 |
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Proximal monosomy 4q25
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Orphanet_502437 |
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Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
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Orphanet_534 |
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Mucopolysaccharidosis type 6
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Orphanet_583 |
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