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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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X-linked Charcot-Marie-Tooth disease type 4
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Orphanet_101078 |
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Hyper-IgM syndrome due to CD40 deficiency
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Orphanet_101090 |
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Hyper-IgM syndrome due to CD40 ligand deficiency
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Orphanet_101088 |
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Hyper-IgM syndrome due to CD40L deficiency
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Orphanet_101088 |
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Hyper-IgM syndrome due to UNG deficiency
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Orphanet_101092 |
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Hyper-IgM syndrome due to uracil N-glycosylase
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Orphanet_101092 |
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Autosomal dominant epilepsy with auditory features
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Orphanet_101046 |
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Female restricted epilepsy with intellectual disability
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Orphanet_101039 |
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Sub-cortical nodular heterotopia
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Orphanet_101029 |
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Subependymal nodular heterotopia
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Orphanet_101030 |
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Familial hypocalciuric hypercalcemia type 2
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Orphanet_101049 |
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Familial hypocalciuric hypercalcemia type 3
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Orphanet_101050 |
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Complete situs inversus
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Orphanet_101063 |
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Complete situs inversus viscerum
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Orphanet_101063 |
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Autosomal dominant lateral temporal lobe epilepsy
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Orphanet_101046 |
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