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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.
Isolated pulmonary artery sling
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Orphanet_658574 |
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Eyelid sebaceous carcinoma
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Orphanet_658590 |
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Microcephaly-short stature-intellectual disability syndrome
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Orphanet_658595 |
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DNMT3A-related microcephalic dwarfism
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Orphanet_658595 |
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Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
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Orphanet_658843 |
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Idiopathic small fibers neuropathy
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Orphanet_658549 |
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Greig cephalopolysyndactyly-contiguous gene syndrome
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Orphanet_658805 |
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COQ7-related distal hereditary motor neuropathy
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Orphanet_658778 |
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Isolated anomalous left pulmonary artery
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Orphanet_658574 |
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Transplant-related bronchiolitis obliterans
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Orphanet_658602 |
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Non-transplant-related bronchiolitis obliterans
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Orphanet_658612 |
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Isolated left pulmonary artery sling
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Orphanet_658574 |
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16q22 deletion syndrome
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Orphanet_658540 |
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Bronchiolitis obliterans syndrome
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Orphanet_658602 |
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