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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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Dysplastic cortical hyperostosis
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Orphanet_646139 |
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Dysplastic cortical hyperostosis, Al-Gazali type
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Orphanet_646136 |
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Persistent hyperinsulinemic hypoglycemia of infancy
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Orphanet_657 |
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Circumscribed acral hypokeratosis
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Orphanet_69744 |
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Circumscribed palmoplantar hypokeratosis
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Orphanet_69744 |
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EGF-related primary hypomagnesemia with intellectual disability
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Orphanet_620368 |
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Immunotherapy induced hypophysitis
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Orphanet_641350 |
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COASY-related pontocerebellar hypoplasia
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Orphanet_611256 |
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Isolated female hypospadias
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Orphanet_603515 |
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Congenital central hypoventilation syndrome
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Orphanet_661 |
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Body integrity identity disorder
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Orphanet_623789 |
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X-linked combined immunodeficiency due to SASH3 deficiency
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Orphanet_653751 |
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AML M7 in adult
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Orphanet_662934 |
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Primary CPP in boy
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Orphanet_650087 |
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Secondary CPP in boy
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Orphanet_650092 |
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