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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.
Evans syndrome associated with primary immunodeficiency
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Orphanet_444463 |
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Autosomal recessive brachyolmia
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Orphanet_448242 |
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Familial colorectal cancer Type X
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Orphanet_440437 |
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NUT midline carcinoma
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Orphanet_443167 |
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Mitochondrial pyruvate carrier deficiency
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Orphanet_447784 |
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Early-onset lamellar cataract
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Orphanet_441452 |
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IgG4-related sclerosing cholangitis
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Orphanet_447764 |
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Secondary sclerosing cholangitis
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Orphanet_447774 |
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Central serous chorioretinopathy
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Orphanet_443079 |
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Familial nonpolyposis colon cancer
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Orphanet_443909 |
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Hereditary nonpolyposis colon cancer
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Orphanet_443909 |
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Familial nonpolyposis colorectal cancer
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Orphanet_443909 |
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Hereditary nonpolyposis colorectal cancer
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Orphanet_443909 |
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Marie Unna congenital hypotrichosis
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Orphanet_444 |
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Congenital third cranial nerve palsy
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Orphanet_440221 |
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