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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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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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Rare genetic endocrine disease
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Orphanet_156638 |
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Pinnae and external auditory canal anomaly
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Orphanet_156243 |
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Primary early-onset glaucoma
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Orphanet_156005 |
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Genetic endocrine growth disease
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Orphanet_156643 |
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Rare genetic hepatic disease
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Orphanet_156601 |
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Genetic parenchymatous liver disease
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Orphanet_156604 |
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Paralytic facial malformation
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Orphanet_156224 |
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Facial arteriovenous malformation
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Orphanet_156230 |
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Spondyloepimetaphyseal dysplasia, matrilin-3 type
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Orphanet_156728 |
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Immune complex mediated vasculitis
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Orphanet_156149 |
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Hepatic carnitine palmitoyl transferase 1 deficiency
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Orphanet_156 |
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Hepatic carnitine palmitoyl transferase I deficiency
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Orphanet_156 |
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