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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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SPAX2
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Orphanet_397946 |
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SPG58
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Orphanet_397946 |
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SUFE
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Orphanet_399329 |
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Darling disease
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Orphanet_390 |
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Omenn syndrome
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Orphanet_39041 |
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Choroid melanoma
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Orphanet_39044 |
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Uveal melanoma
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Orphanet_39044 |
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STAT1 deficiency
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Orphanet_391311 |
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SURF1-related CMT4
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Orphanet_391351 |
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FOXP1 Syndrome
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Orphanet_391372 |
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2-methyl-3-hydroxybutyric aciduria
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Orphanet_391417 |
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HSD10 deficiency
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Orphanet_391417 |
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HSD10 disease
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Orphanet_391417 |
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MHBD deficiency
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Orphanet_391417 |
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Glomus tumor
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Orphanet_391651 |
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