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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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Autosomal dominant Kenny-Caffey syndrome
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Orphanet_93325 |
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Spondyloepiphyseal dysplasia, Kimberley type
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Orphanet_93283 |
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Spondylometaphyseal dysplasia, Kozlowski type
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Orphanet_93314 |
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Spondyloepimetaphyseal dysplasia, Menger type
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Orphanet_93347 |
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Spondyloepimetaphyseal dysplasia, Missouri type
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Orphanet_93356 |
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Spondyloepimetaphyseal dysplasia, PAPSS2 type
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Orphanet_93282 |
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Spondyloepimetaphyseal dysplasia, Pakistani type
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Orphanet_93282 |
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Spondylometaphyseal dysplasia, Schmidt type
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Orphanet_93316 |
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Spondylometaphyseal dysplasia, Sedaghatian type
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Orphanet_93317 |
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Spondyloepimetaphyseal dysplasia, Shohat type
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Orphanet_93352 |
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Spondyloepimetaphyseal dysplasia, Sponastrime type
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Orphanet_93357 |
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Spondylometaphyseal dysplasia, Sutcliffe type
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Orphanet_93315 |
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Polydactyly of a biphalangeal thumb and/or hallux
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Orphanet_93339 |
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Polydactyly of a triphalangeal thumb
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Orphanet_93336 |
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Isolated congenital absence of tibia
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Orphanet_93322 |
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