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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.
AD-SPG9A
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Orphanet_447753 |
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AD-SPG9B
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Orphanet_447757 |
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AR-SPG9B
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Orphanet_447760 |
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CMT2V
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Orphanet_447964 |
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COXPD25
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Orphanet_447954 |
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Dup(19)(p13.3)
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Orphanet_447980 |
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KTOC
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Orphanet_447777 |
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PPAP
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Orphanet_447877 |
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Marchiafava-Micheli disease
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Orphanet_447 |
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NIK deficiency
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Orphanet_447731 |
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Sclerosing cholangitis
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Orphanet_447771 |
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Odontogenic keratocystoma
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Orphanet_447777 |
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TACH syndrome
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Orphanet_447896 |
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ASCT1 deficiency
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Orphanet_447997 |
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Lipoyl transferase 2 deficiency
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Orphanet_447795 |
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