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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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Total color blindness
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Orphanet_49382 |
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Dysostosis with brachydactyly with extraskeletal manifestations
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Orphanet_498454 |
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Calcified epithelial carcinoma of Malherbe
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Orphanet_499182 |
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Squamous cell carcinoma of the hypopharynx
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Orphanet_494547 |
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Squamous cell carcinoma of the larynx
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Orphanet_494550 |
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Squamous cell carcinoma of the vulva
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Orphanet_494448 |
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Basal cell carcinoma of vulva
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Orphanet_494451 |
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Vulvar squamous cell carcinoma
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Orphanet_494448 |
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Vulvar basal cell carcinoma
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Orphanet_494451 |
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Childhood-onset benign chorea with striatal involvement
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Orphanet_494541 |
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Proliferating trichilemmal cyst
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Orphanet_492 |
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DIAPH1-related sensorineural deafness-thrombocytopenia syndrome
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Orphanet_494444 |
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MME-related autosomal dominant CMT2
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Orphanet_497757 |
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Hypomyelinating leukodystrophy due to hikeshi deficiency
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Orphanet_495844 |
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Infantile-onset orofacial-trunk-limbs dyskinesia
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Orphanet_494526 |
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