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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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Del(13)(q12.3)
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Orphanet_412035 |
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Dysbetalipoproteinemia
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Orphanet_412 |
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SCAR16
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Orphanet_412057 |
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Broad-beta disease
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Orphanet_412 |
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Remnant hyperlipoproteinemia
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Orphanet_412 |
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FDLAB syndrome
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Orphanet_412022 |
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Traboulsi syndrome
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Orphanet_412022 |
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Monosomy 13q12.3
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Orphanet_412035 |
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Xia-Gibbs syndrome
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Orphanet_412069 |
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Dystonia-aphonia syndrome
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Orphanet_412217 |
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HLP type 3
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Orphanet_412 |
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Hyperlipidemia type 3
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Orphanet_412 |
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Hyperlipoproteinemia type 3
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Orphanet_412 |
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Spinocerebellar ataxia autosomal recessive type 16
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Orphanet_412057 |
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DST-related epidermolysis bullosa simplex
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Orphanet_412181 |
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