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| created at |
2024-09-23 16:23:50 UTC |
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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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Hyalinosis cutis et mucosae
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Orphanet_530 |
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Supratentorial C11ORF95-RELA fused ependymoma
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Orphanet_530792 |
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KRT1-related diffuse nonepidermolytic keratoderma
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Orphanet_530838 |
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PIK3CA-related overgrowth syndrome
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Orphanet_530313 |
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SOX5 haploinsufficiency syndrome
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Orphanet_530983 |
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Progressive dementia with neuroserpin inclusion bodies
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Orphanet_530303 |
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