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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.
Malignant carcinoid syndrome
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Orphanet_100093 |
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2q37 microdeletion syndrome
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Orphanet_1001 |
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Brachydactyly-intellectual disability syndrome
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Orphanet_1001 |
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ACD-intellectual disability syndrome
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Orphanet_1005 |
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Alopecia-contractures-dwarfism-intellectual disability syndrome
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Orphanet_1005 |
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Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
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Orphanet_1008 |
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NET of the colon
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Orphanet_100080 |
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NET of the rectum
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Orphanet_100081 |
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Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
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Orphanet_100978 |
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Extramedullary soft tissue plasmacytoma
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Orphanet_100022 |
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Porphyria due to ALA dehydratase deficiency
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Orphanet_100924 |
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Porphyria due to ALAD deficiency
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Orphanet_100924 |
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Porphyria due to delta-aminolevulinate dehydratase deficiency
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Orphanet_100924 |
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Gastric neuroendocrine tumor
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Orphanet_100075 |
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Duodenal neuroendocrine tumor
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Orphanet_100076 |
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