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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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Oromandibular-limb anomalies syndrome
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Orphanet_156215 |
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De Smet-Fabry-Fryns syndrome
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Orphanet_1570 |
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Retinal degeneration-nanophthalmos-glaucoma syndrome
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Orphanet_1574 |
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Hyperplastic polyposis syndrome
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Orphanet_157798 |
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Serrated polyposis syndrome
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Orphanet_157798 |
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Cold-induced sweating syndrome
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Orphanet_157820 |
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Spondylocheirodysplastic Ehlers-Danlos syndrome
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Orphanet_157965 |
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Reactive hemophagocytic syndrome
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Orphanet_158041 |
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Virus-associated hemophagocytic syndrome
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Orphanet_158048 |
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Macrophage activation syndrome
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Orphanet_158061 |
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Huntington disease-like syndrome
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Orphanet_158266 |
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15q26 deletion syndrome
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Orphanet_1596 |
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De Grouchy syndrome type 1
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Orphanet_1598 |
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Cutis marmorata telangiectatica congenita
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Orphanet_1556 |
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CID due to RAG 1/2 deficiency
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Orphanet_157949 |
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