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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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Intermediate maple syrup urine disease
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Orphanet_268162 |
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Intermittent maple syrup urine disease
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Orphanet_268173 |
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Thiamine-responsive maple syrup urine disease
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Orphanet_268184 |
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Malformation of the neurenteric canal, spinal cord and column
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Orphanet_268843 |
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LGMD due to dysferlin deficiency
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Orphanet_268 |
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Arnold-Chiari malformation type 1
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Orphanet_268882 |
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Chiari malformation type 1
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Orphanet_268882 |
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Arnold-Chiari malformation type I
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Orphanet_268882 |
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Chiari malformation type I
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Orphanet_268882 |
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Spinal dysraphism with a posterior meningocele
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Orphanet_268744 |
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Hereditary thrombocytopenia with normal platelets
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Orphanet_268322 |
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