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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.
PEComa
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Orphanet_595133 |
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Centronuclear myopathy
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Orphanet_595 |
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Atypical LQT8
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Orphanet_595109 |
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FD/MAS spectrum
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Orphanet_595216 |
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FD/MAS syndrome
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Orphanet_595216 |
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Localized DEB
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Orphanet_595356 |
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LQT8 type 1
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Orphanet_595098 |
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LQT8 type 2
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Orphanet_595105 |
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Perivascular epithelioid cell neoplasm
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Orphanet_595133 |
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Adrenal hypoplasia congenita
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Orphanet_595337 |
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Localized dystrophic epidermolysis bullosa
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Orphanet_595356 |
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EBS without extracutaneous involvement
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Orphanet_595346 |
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EBS with extracutaneous involvement
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Orphanet_595351 |
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Congenital adrenal hypoplasia
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Orphanet_595337 |
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Primary adrenal hypoplasia
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Orphanet_595337 |
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