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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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MPNST
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Orphanet_3148 |
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Neurofibrosarcoma
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Orphanet_3148 |
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Malignant neurilemmoma
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Orphanet_3148 |
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Malignant neurofibroma
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Orphanet_3148 |
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Malignant schwannoma
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Orphanet_3148 |
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Neurogenic sarcoma
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Orphanet_3148 |
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AD pRTA
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Orphanet_314889 |
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Ghrelin receptor deficiency
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Orphanet_314811 |
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Short stature due to GHSR deficiency
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Orphanet_314811 |
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Short stature due to partial GHR deficiency
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Orphanet_314802 |
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Short stature due to partial growth hormone receptor deficiency
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Orphanet_314802 |
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Malignant peripheral nerve sheath tumor
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Orphanet_3148 |
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Autosomal dominant proximal renal tubular acidosis
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Orphanet_314889 |
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Primary renal tubular acidosis
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Orphanet_314822 |
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