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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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X-linked lymphoproliferative disease due to XIAP deficiency
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Orphanet_538934 |
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Osteopetrosis autosomal dominant type 2
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Orphanet_53 |
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Combined immunodeficiency due to CD70 deficiency
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Orphanet_538958 |
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Combined immunodeficiency due to ITK deficiency
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Orphanet_538963 |
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Lowe oculo-cerebro-renal dystrophy
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Orphanet_534 |
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Lowe oculocerebrorenal dystrophy
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Orphanet_534 |
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Retinoschisis with early nyctalopia
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Orphanet_53540 |
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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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Progressive myoclonic epilepsy with neuroserpin inclusion bodies
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Orphanet_530298 |
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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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Hyalinosis cutis et mucosae
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Orphanet_530 |
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Supratentorial C11ORF95-RELA fused ependymoma
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Orphanet_530792 |
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