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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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Huntington disease-like 3
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Orphanet_157946 |
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Syndactyly type 9
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Orphanet_157801 |
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Late infantile CACH syndrome
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Orphanet_157716 |
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Fatal infantile COX deficiency
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Orphanet_1561 |
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SLC39A13-related spondylodysplastic EDS
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Orphanet_157965 |
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SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
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Orphanet_157965 |
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Carnitine palmitoyltransferase II deficiency
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Orphanet_157 |
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Autosomal recessive Robinow syndrome
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Orphanet_1507 |
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Dyssegmental dysplasia, Rolland-Desbuquois type
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Orphanet_156731 |
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Oculoauricular syndrome, Schorderet type
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Orphanet_157962 |
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Localized DEB, acral form
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Orphanet_158673 |
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Juvenile or adult CACH syndrome
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Orphanet_157719 |
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Corpus callosum agenesis-polysyndactyly syndrome
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Orphanet_1553 |
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Isolated sagittal and bilambdoid craniosynostosis
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Orphanet_1516 |
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Non-syndromic sagittal and bilateral lambdoid synostosis
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Orphanet_1516 |
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