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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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Delta-sarcoglycanopathy
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Orphanet_219 |
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EPPK
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Orphanet_2199 |
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LGMD2F
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Orphanet_219 |
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Dicarboxylic aminoaciduria
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Orphanet_2195 |
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Meier-Blumberg-Imahorn syndrome
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Orphanet_2196 |
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Idiopathic hypercalciuria
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Orphanet_2197 |
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Bennion-Patterson syndrome
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Orphanet_2198 |
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Howell-Evans syndrome
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Orphanet_2198 |
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LGMD type 2F
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Orphanet_219 |
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Delta-sarcoglycan-related LGMD R6
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Orphanet_219 |
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Keratosis palmoplantaris-esophageal carcinoma syndrome
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Orphanet_2198 |
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Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
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Orphanet_2198 |
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Palmoplantar keratoderma-esophageal carcinoma syndrome
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Orphanet_2198 |
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Hypercalciuria-bilateral macular coloboma syndrome
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Orphanet_2196 |
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Glutamate-aspartate transport defect
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Orphanet_2195 |
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