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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.
Autosomal anomaly
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Orphanet_98127 |
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Autosomal duplication
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Orphanet_98130 |
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Autosomal trisomy
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Orphanet_98130 |
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Allosome anomaly
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Orphanet_98155 |
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Sex-chromosome anomaly
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Orphanet_98155 |
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Combined dystonia
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Orphanet_98203 |
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Dystonia-plus syndrome
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Orphanet_98203 |
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Ehlers-Danlos syndrome
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Orphanet_98249 |
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Infectious encephalitis
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Orphanet_98252 |
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Chronic encephalitis
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Orphanet_98255 |
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Myeloproliferative disorder
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Orphanet_98274 |
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Myeloproliferative neoplasm
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Orphanet_98274 |
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Myelodysplastic/myeloproliferative disease
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Orphanet_98275 |
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Hodgkin lymphoma
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Orphanet_98293 |
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Genetic lipodystrophy
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Orphanet_98305 |
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