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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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Focal stiff limb syndrome
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Orphanet_443804 |
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Susceptibility to localized juvenile periodontitis
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Orphanet_447740 |
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Autoimmune interstitial lung disease-arthritis syndrome
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Orphanet_444092 |
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Extensive peripapillary myelinated nerve fibers
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Orphanet_440724 |
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Congenital oculomotor nerve palsy
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Orphanet_440221 |
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Congenital abducens nerve palsy
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Orphanet_440233 |
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Isolated focal non-epidermolytic palmoplantar keratoderma
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Orphanet_448264 |
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Partial duplication of chromosome 19p
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Orphanet_447985 |
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Partial trisomy of chromosome 19p
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Orphanet_447985 |
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Symptomatic form of fragile X syndrome in female carriers
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Orphanet_449291 |
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Isolated agenesis of gallbladder
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Orphanet_440987 |
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Congenital disorder of glycosylation type 1z
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Orphanet_448010 |
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Combined hamartoma of the retina and RPE
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Orphanet_440727 |
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Combined hamartoma of the retina and retinal pigment epithelium
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Orphanet_440727 |
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Partial duplication of the short arm of chromosome 19
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Orphanet_447985 |
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