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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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Myosin storage myopathy
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Orphanet_53698 |
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Toxic epidermal necrolysis
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Orphanet_537 |
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Congenital axonal neuropathy with encephalopathy
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Orphanet_538101 |
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KRT1-related diffuse nonepidermolytic keratoderma
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Orphanet_530838 |
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Oculocerebrorenal syndrome of Lowe
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Orphanet_534 |
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Familial trembling of the chin
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Orphanet_53372 |
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Congenital cornea plana
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Orphanet_53691 |
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Ehlers-Danlos syndrome progeroid type 2
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Orphanet_536467 |
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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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9q21.13 microdeletion syndrome
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Orphanet_531151 |
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Lowe oculo-cerebro-renal syndrome
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Orphanet_534 |
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Enhanced S-cone syndrome
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Orphanet_53540 |
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Spondylodysplastic Ehlers-Danlos syndrome
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Orphanet_536471 |
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EDS/myopathy overlap syndrome
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Orphanet_536516 |
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