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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.
Renal tubulopathy-encephalopathy-liver failure syndrome
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Orphanet_254902 |
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Unexplained long-lasting fever/inflammatory syndrome
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Orphanet_251332 |
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Classic mycosis fungoides
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Orphanet_2584 |
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Microcephaly-cervical spine fusion anomalies syndrome
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Orphanet_2522 |
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Giant cell glioblastoma
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Orphanet_251579 |
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46,XY partial gonadal dysgenesis
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Orphanet_251510 |
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Hyperzincemia and hypercalprotectinemia
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Orphanet_251523 |
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Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
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Orphanet_2504 |
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Mitochondrial protein import disorder
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Orphanet_254834 |
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Chronic EBV infection syndrome
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Orphanet_2566 |
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Primary melanocytic lesion of CNS
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Orphanet_252028 |
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Primary melanocytic lesion of central nervous system
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Orphanet_252028 |
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Rare cutaneous lichen planus
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Orphanet_254370 |
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Rare mucosal lichen planus
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Orphanet_254373 |
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Annular atrophic lichen planus
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Orphanet_254411 |
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