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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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Vuopala disease
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Orphanet_53696 |
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Gnathodiaphyseal dysplasia
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Orphanet_53697 |
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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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ITK deficiency
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Orphanet_538963 |
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Telomeric deletion 17p
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Orphanet_531 |
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clEDS type 2
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Orphanet_536532 |
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Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
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Orphanet_534 |
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Familial apolipoprotein A-V deficiency
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Orphanet_530849 |
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Familial apolipoprotein A5 deficiency
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Orphanet_530849 |
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B3GALT6-related spondylodysplastic EDS
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Orphanet_536467 |
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