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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.
CID with expansion of gamma delta T cells
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Orphanet_231154 |
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Autosomal dominant generalized dystrophic epidermolysis bullosa
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Orphanet_231568 |
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X-linked isolated growth hormone deficiency
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Orphanet_231692 |
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Congenital isolated growth hormone deficiency type IA
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Orphanet_231662 |
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Congenital isolated growth hormone deficiency type IB
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Orphanet_231671 |
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Congenital isolated growth hormone deficiency type II
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Orphanet_231679 |
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Congenital isolated growth hormone deficiency type III
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Orphanet_231692 |
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Erythema palmare hereditarium
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Orphanet_231031 |
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Isolated growth hormone deficiency type IA
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Orphanet_231662 |
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Isolated growth hormone deficiency type IB
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Orphanet_231671 |
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Isolated growth hormone deficiency type II
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Orphanet_231679 |
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Isolated growth hormone deficiency type III
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Orphanet_231692 |
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Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
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Orphanet_2314 |
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High-grade dysplasia in patients with Barrett esophagus
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Orphanet_231080 |
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Familial generalized lentiginosis
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Orphanet_231040 |
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