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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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Circumscribed palmoplantar hypokeratosis
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Orphanet_69744 |
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Bilateral acute depigmentation of the iris
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Orphanet_69736 |
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Intrahepatic cholestasis of pregnancy
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Orphanet_69665 |
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Fetomaternal alloimmunization with antenatal glomerulopathies
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Orphanet_69063 |
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Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
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Orphanet_69735 |
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Navajo brainstem syndrome
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Orphanet_69739 |
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Pearson marrow-pancreas syndrome
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Orphanet_699 |
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Tyrosinemia due to HPD deficiency
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Orphanet_69723 |
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Ectodermal dysplasia with natal teeth, Turnpenny type
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Orphanet_69083 |
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Malignant rhabdoid tumor
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Orphanet_69077 |
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