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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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X-linked combined immunodeficiency due to SASH3 deficiency
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Orphanet_653751 |
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Autosomal recessive limb-girdle muscular dystrophy, type 28
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Orphanet_653725 |
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Sclerosing lymphocytic lobulitis
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Orphanet_653698 |
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Multiple endocrine neoplasia type 2
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Orphanet_653 |
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CHD4-related neurodevelopmental syndrome
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Orphanet_653712 |
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Digenic Alport syndrome
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Orphanet_653722 |
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Jansen-de Vries syndrome
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Orphanet_653767 |
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Congenital insensitivity to pain syndrome, Marsili type
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Orphanet_653728 |
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