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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.
Inherited gynecological cancer-predisposing syndrome
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Orphanet_589746 |
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PUM1-associated developmental disability-ataxia-seizure syndrome
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Orphanet_589515 |
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Congenital-onset Steinert disease
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Orphanet_589821 |
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Childhood-onset Steinert disease
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Orphanet_589824 |
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Juvenile-onset Steinert disease
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Orphanet_589827 |
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Adult-onset Steinert disease
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Orphanet_589830 |
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Late-onset Steinert disease
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Orphanet_589833 |
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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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RHOA-related mosaic ectodermal dysplasia
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Orphanet_589608 |
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Autoimmune myasthenia gravis
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Orphanet_589 |
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