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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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Pilocytic astrocytoma with histological features of anaplasia
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Orphanet_673585 |
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Spondyloepimetaphyseal dysplasia with joint laxity type 1
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Orphanet_642099 |
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Spondyloepimetaphyseal dysplasia with joint laxity type 3
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Orphanet_642085 |
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Hereditary neuropathy with liability to pressure palsies
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Orphanet_640 |
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Embryonal tumor with multilayered rosettes
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Orphanet_656417 |
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Trigeminal neuropathy with nasal ulceration
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Orphanet_664901 |
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Ectodermal dysplasia with natal teeth, Turnpenny type
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Orphanet_69083 |
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Non-syndromic ARM with perineal fistula
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Orphanet_600952 |
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Vascular EDS with polymicrogyria
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Orphanet_636941 |
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Distal myopathy with posterior leg and anterior hand involvement
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Orphanet_63273 |
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Non-syndromic ARM with pouch colon
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Orphanet_601013 |
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Non-syndromic ARM with rectal atresia
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Orphanet_601018 |
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Non-syndromic ARM with rectal stenosis
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Orphanet_601023 |
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Non-syndromic ARM with rectobulbar fistula
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Orphanet_600966 |
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Non-syndromic ARM with rectoprostatic fistula
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Orphanet_600975 |
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