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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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CAMS2
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Orphanet_53719 |
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dHMN
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Orphanet_53739 |
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dSMA
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Orphanet_53739 |
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Lyell syndrome
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Orphanet_537 |
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Bonnet-Dechaume-Blanc syndrome
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Orphanet_53719 |
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Wyburn-Mason syndrome
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Orphanet_53719 |
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Cobb syndrome
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Orphanet_53721 |
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Cutaneomeningospinal angiomatosis
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Orphanet_53721 |
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SAMS 1-31
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Orphanet_53721 |
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PLG-related hereditary angioedema with normal C1Inh
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Orphanet_537072 |
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Familial tumoral calcinosis
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Orphanet_53715 |
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Spinal arteriovenous metameric syndrome
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Orphanet_53721 |
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Cerebrofacial arteriovenous metameric syndrome type 2
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Orphanet_53719 |
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Distal hereditary motor neuropathy
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Orphanet_53739 |
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Distal spinal muscular atrophy
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Orphanet_53739 |
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