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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.
Aprosencephaly/atelencephaly spectrum
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Orphanet_566847 |
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Atelencephalic microcephaly
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Orphanet_566852 |
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Brailsford disease
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Orphanet_566943 |
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Mueller-Weiss syndrome
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Orphanet_566943 |
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Left sided atrial isomerism
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Orphanet_566862 |
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Acute mast cell leukemia
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Orphanet_566393 |
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Chronic mast cell leukemia
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Orphanet_566396 |
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Isomerism of left atrial appendage
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Orphanet_566862 |
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Mueller-Weiss osteonecrosis of the tarsal bone
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Orphanet_566943 |
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Congenital autosomal recessive small-platelet thrombocytopenia
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Orphanet_566192 |
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Resistance to thyroid hormone alpha
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Orphanet_566231 |
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Resistance to thyroid hormone beta
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Orphanet_566243 |
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Resistance to thyroid hormone due to a mutation in TRa
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Orphanet_566231 |
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Resistance to thyroid hormone due to a mutation in TRb
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Orphanet_566243 |
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