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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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Distal muscular dystrophy
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Orphanet_599 |
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Spondylometaphyseal dysplasia-corneal dystrophy syndrome
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Orphanet_589435 |
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Congenital-onset myotonic dystrophy type 1
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Orphanet_589821 |
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Childhood-onset myotonic dystrophy type 1
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Orphanet_589824 |
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Juvenile-onset myotonic dystrophy type 1
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Orphanet_589827 |
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Adult-onset myotonic dystrophy type 1
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Orphanet_589830 |
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Late-onset myotonic dystrophy type 1
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Orphanet_589833 |
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Limb-girdle muscular dystrophy type 1F
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Orphanet_55595 |
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Limb-girdle muscular dystrophy type 1G
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Orphanet_55596 |
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Limb-girdle muscular dystrophy type D4
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Orphanet_565909 |
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Limb-girdle muscular dystrophy type R24
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Orphanet_565899 |
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Limb-girdle muscular dystrophy with Paget disease of bone
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Orphanet_52430 |
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Hypomyelination of early myelinating structures
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Orphanet_599376 |
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Retinoschisis with early nyctalopia
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Orphanet_53540 |
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RNF13-related severe early-onset epileptic encephalopathy
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Orphanet_544503 |
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