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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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Megalencephaly-capillary malformation-polymicrogyria syndrome
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Orphanet_60040 |
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Aortic aneurysm syndrome due to TGF-beta receptors anomalies
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Orphanet_60030 |
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Macrocephaly-cutis marmorata telangiectatica congenita syndrome
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Orphanet_60040 |
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Non-syndromic ARM with bladder neck fistula
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Orphanet_600984 |
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Non-syndromic ARM with cutaneous fistula
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Orphanet_600952 |
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Non-syndromic ARM with perineal fistula
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Orphanet_600952 |
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Non-syndromic ARM with rectobulbar fistula
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Orphanet_600966 |
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Non-syndromic ARM with rectoprostatic fistula
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Orphanet_600975 |
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Non-syndromic ARM with rectourethral fistula
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Orphanet_600961 |
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Non-syndromic ARM with rectourethral fistula, bulbar type
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Orphanet_600966 |
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Non-syndromic ARM with rectourethral fistula, prostatic type
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Orphanet_600975 |
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Non-syndromic ARM with rectovesical fistula
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Orphanet_600984 |
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Non-syndromic ARM with vestibular fistula
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Orphanet_600993 |
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Distal myopathy with vocal cord weakness
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Orphanet_600 |
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