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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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Silver-Russell syndrome due to dup(7)(p11.2p13)
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Orphanet_231137 |
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Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
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Orphanet_231117 |
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Combined immunodeficiency due to partial RAG1 deficiency
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Orphanet_231154 |
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Silver-Russell syndrome due to trisomy 7p11.2-p13
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Orphanet_231137 |
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Silver-Russell syndrome due to trisomy 7p11.2p13
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Orphanet_231137 |
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Drug-induced lupus erythematosus
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Orphanet_231111 |
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CID with expansion of gamma delta T cells
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Orphanet_231154 |
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Rhabdoid tumor predisposition syndrome
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Orphanet_231108 |
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Familial cerebral saccular aneurysm
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Orphanet_231160 |
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Familial intracranial saccular aneurysm
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Orphanet_231160 |
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Autosomal recessive spondylocostal dysostosis
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Orphanet_2311 |
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CID due to partial RAG1 deficiency
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Orphanet_231154 |
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Usher syndrome type 1
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Orphanet_231169 |
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Usher syndrome type 2
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Orphanet_231178 |
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Usher syndrome type 3
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Orphanet_231183 |
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