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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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HPDL-related Leigh-like encephalopathy
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Orphanet_641353 |
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Reactive papillary endothelial hyperplasia
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Orphanet_673525 |
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Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
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Orphanet_653880 |
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Pudendal nerve entrapment syndrome
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Orphanet_60039 |
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Pigmented hairy epidermal naevus
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Orphanet_64755 |
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Pigmentary hairy epidermal nevus
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Orphanet_64755 |
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Pigmented hairy epidermal nevus
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Orphanet_64755 |
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Childhood absence epilepsy
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Orphanet_64280 |
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CANT1-related multiple epiphyseal dysplasia
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Orphanet_647676 |
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Rare gastric epithelial tumor
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Orphanet_63443 |
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Self-healing squamous epithelioma type 1
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Orphanet_65748 |
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Rare inborn errors of metabolism
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Orphanet_68367 |
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mtDNA-related progressive external ophthalmoplegia
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Orphanet_663 |
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Premature ovarian failure associated with fragile X premutation
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Orphanet_642691 |
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Charcot-Marie-Tooth disease-pyramidal features syndrome
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Orphanet_64751 |
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