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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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Isolated focal cortical dysplasia type Ib
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Orphanet_268980 |
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Isolated focal cortical dysplasia type Ic
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Orphanet_268987 |
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Spina bifida cystica
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Orphanet_268744 |
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Classic BCKD deficiency
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Orphanet_268145 |
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Intermediate BCKD deficiency
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Orphanet_268162 |
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Intermittent BCKD deficiency
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Orphanet_268173 |
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Thiamine-responsive BCKD deficiency
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Orphanet_268184 |
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Brain cortical dysplasia
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Orphanet_268950 |
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Cerebral cortical dysplasia
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Orphanet_268950 |
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Open spinal dysraphism
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Orphanet_268369 |
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Limb-girdle muscular dystrophy due to dysferlin deficiency
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Orphanet_268 |
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Limb-girdle muscular dystrophy type 2B
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Orphanet_268 |
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Mycophenolate mofetil embryopathy
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Orphanet_268249 |
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Complication in hemodialysis
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Orphanet_268316 |
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Adult chronic idiopathic neutropenia
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Orphanet_2688 |
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