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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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BEEC
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Orphanet_322 |
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Exstrophy-epispadias complex
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Orphanet_322 |
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Heimler syndrome
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Orphanet_3220 |
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PRPS1 superactivity
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Orphanet_3222 |
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Pfeiffer-Kapferer syndrome
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Orphanet_3224 |
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Tungland-Bellman syndrome
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Orphanet_3225 |
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Deafness-enamel hypoplasia-nail defects syndrome
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Orphanet_3220 |
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Bladder exstrophy-epispadias-cloacal extrophy complex
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Orphanet_322 |
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Hearing loss-enamel hypoplasia-nail defects syndrome
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Orphanet_3220 |
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Genetic tumor of hematopoietic and lymphoid tissues
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Orphanet_322126 |
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PRPP synthetase superactivity
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Orphanet_3222 |
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Phosphoribosylpyrophosphate synthetase superactivity
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Orphanet_3222 |
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