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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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Congenital-onset Steinert disease
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Orphanet_589821 |
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Childhood-onset Steinert disease
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Orphanet_589824 |
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Juvenile-onset Steinert disease
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Orphanet_589827 |
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Adult-onset Steinert disease
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Orphanet_589830 |
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Late-onset Steinert disease
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Orphanet_589833 |
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IgG4-related systemic disease
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Orphanet_596448 |
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Portosinusoidal vascular disease
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Orphanet_596937 |
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Central core disease
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Orphanet_597 |
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X-linked lymphoproliferative disease due to SAP deficiency
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Orphanet_538931 |
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X-linked lymphoproliferative disease due to SH2D1A deficiency
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Orphanet_538931 |
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X-linked lymphoproliferative disease due to XIAP deficiency
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Orphanet_538934 |
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Glycogen storage disease due to aldolase A deficiency
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Orphanet_57 |
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Glycogen storage disease type 12
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Orphanet_57 |
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Pseudo-von Willebrand disease type 2B
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Orphanet_52530 |
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Glycogen storage disease type XII
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Orphanet_57 |
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