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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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Localized Castleman disease
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Orphanet_93685 |
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Unicentric Castleman disease
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Orphanet_93685 |
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Lysosomal storage disease with skeletal involvement
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Orphanet_93448 |
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Sulfation-related bone disorder
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Orphanet_93423 |
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Filamin-related bone disorder
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Orphanet_93425 |
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Autosomal dominant distal renal tubular acidosis
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Orphanet_93608 |
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Familial thyroglossal duct cyst
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Orphanet_93953 |
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Immunodeficiency-short limb dwarfism syndrome
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Orphanet_935 |
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Polyostotic fibrous dysplasia
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Orphanet_93276 |
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Monostotic fibrous dysplasia
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Orphanet_93277 |
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Familial pelvis-scapular dysplasia
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Orphanet_93333 |
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X-linked spondyloepimetaphyseal dysplasia
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Orphanet_93349 |
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Short rib dysplasia
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Orphanet_93426 |
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Multiple metaphyseal dysplasia
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Orphanet_93430 |
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Bent bone dysplasia
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Orphanet_93439 |
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