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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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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 rectovaginal fistula
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Orphanet_601028 |
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Non-syndromic ARM with rectovesical fistula
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Orphanet_600984 |
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Distal myopathy with rimmed vacuoles
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Orphanet_602 |
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B-lymphoblastic leukemia/lymphoma with t(17;19)
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Orphanet_641375 |
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B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
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Orphanet_641372 |
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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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Non-syndromic ARM without fistula
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Orphanet_601002 |
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Genetic HLH without hypopigmentation
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Orphanet_664482 |
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Primary HLH without hypopigmentation
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Orphanet_664482 |
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Keratoderma with woolly hair type II
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Orphanet_65282 |
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Lymphedema with yellow nails
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Orphanet_662 |
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