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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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ANCA-associated vasculitis
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Orphanet_156152 |
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Isolated dystonia
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Orphanet_156159 |
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Pure dystonia
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Orphanet_156159 |
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Renal ciliopathy
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Orphanet_156162 |
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Retinal ciliopathy
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Orphanet_156165 |
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Fatal infantile COX deficiency
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Orphanet_1561 |
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Anti-neutrophil cytoplasmic antibody-associated vasculitis
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Orphanet_156152 |
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Antineutrophil cytoplasmic antibody-associated vasculitis
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Orphanet_156152 |
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Fatal infantile cytochrome C oxidase deficiency
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Orphanet_1561 |
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Retinal ciliopathy due to mutation in Bardet-Biedl gene
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Orphanet_156183 |
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Retinal ciliopathy due to mutation in RP1 gene
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Orphanet_156168 |
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Retinal ciliopathy due to mutation in Usher gene
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Orphanet_156177 |
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Retinal ciliopathy due to mutation in nephronophthisis gene
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Orphanet_156180 |
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Retinal ciliopathy due to mutation in the RPGR gene
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Orphanet_156171 |
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Retinal ciliopathy due to mutation in the RPGRIP gene
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Orphanet_156174 |
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