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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.
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Lipoyl transferase 1 deficiency
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Orphanet_401862 |
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AXIN2-related attenuated FAP
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Orphanet_401911 |
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Bosch-Boonstra-Schaaf optic atrophy syndrome
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Orphanet_401777 |
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Lipoic acid biosynthesis defect
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Orphanet_401854 |
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Fibrolamellar hepatocellular carcinoma
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Orphanet_401920 |
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Familial median cleft of the upper and lower lips
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Orphanet_401942 |
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Lipoate biosynthesis defect
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Orphanet_401854 |
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Optic atrophy-intellectual disability syndrome
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Orphanet_401777 |
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C9ORF72-related Huntington disease phenocopy
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Orphanet_401901 |
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C9ORF72-related Huntington disease-like syndrome
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Orphanet_401901 |
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Male EBP disorder with neurological defects
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Orphanet_401973 |
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Multiple mitochondrial dysfunctions syndrome type 1
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Orphanet_401869 |
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Multiple mitochondrial dysfunctions syndrome type 2
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Orphanet_401874 |
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AXIN2-related attenuated familial adenomatous polyposis
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Orphanet_401911 |
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AXIN2-related attenuated familial polyposis coli
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Orphanet_401911 |
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