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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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Primary autoimmune enteropathy
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Orphanet_522037 |
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Syndromic autoimmune enteropathy
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Orphanet_522043 |
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Isolated congenital entropion
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Orphanet_519386 |
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RELA fusion-positive ependymoma
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Orphanet_530792 |
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Dermoid or epidermoid cyst of the CNS
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Orphanet_530033 |
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Dermoid or epidermoid cyst of the central nervous system
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Orphanet_530033 |
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Localized dystrophic epidermolysis bullosa
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Orphanet_595356 |
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Autosomal recessive epidermolytic ichthyosis
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Orphanet_512103 |
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Progressive myoclonic epilepsy type 2
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Orphanet_501 |
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Progressive myoclonus epilepsy type 2
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Orphanet_501 |
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Progressive myoclonic epilepsy with neuroserpin inclusion bodies
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Orphanet_530298 |
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Keratolytic winter erythema
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Orphanet_50943 |
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Disseminated lupus erythematosus
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Orphanet_536 |
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Systemic lupus erythematosus
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Orphanet_536 |
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NEN of esophagus
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Orphanet_506136 |
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