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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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Diffuse intrinsic pontine glioma
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Orphanet_497188 |
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Transgrediens et progrediens PPK
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Orphanet_495 |
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Transgrediens et progrediens palmoplantar keratoderma
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Orphanet_495 |
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MYBPC1-related autosomal recessive non-lethal AMC syndrome
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Orphanet_498693 |
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RERE-related neurodevelopmental syndrome
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Orphanet_494344 |
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9q33.3q34.11 microdeletion syndrome
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Orphanet_495818 |
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Hyaline fibromatosis syndrome
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Orphanet_498474 |
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Short rib-polydactyly syndrome type 5
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Orphanet_498497 |
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MTCT of syphilis
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Orphanet_499009 |
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Overgrowth or tall stature syndrome with skeletal involvement
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Orphanet_498448 |
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Adenocarcinoma of the vulva
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Orphanet_494454 |
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Keratosis palmoplantaris transgrediens et progrediens
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Orphanet_495 |
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Non-syndromic terminal transverse limb defect
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Orphanet_498461 |
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Cystic epithelial-stromal tumors of the prostate
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Orphanet_498228 |
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Charcot-Marie-Tooth disease type 2T
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Orphanet_495274 |
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