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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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AREI
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Orphanet_512103 |
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CLPD-NK
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Orphanet_512017 |
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CNKL
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Orphanet_512017 |
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Metachromatic leukodystrophy
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Orphanet_512 |
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FTCD deficiency
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Orphanet_51208 |
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Formiminoglutamic aciduria
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Orphanet_51208 |
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Congenital cerebellar ataxia due to RNU12 mutation
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Orphanet_512260 |
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Arylsulfatase A deficiency
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Orphanet_512 |
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Formiminotransferase cyclodeaminase deficiency
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Orphanet_51208 |
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Glutamate formiminotransferase deficiency
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Orphanet_51208 |
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Chronic lymphoproliferative disorder of NK-cells
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Orphanet_512017 |
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Chronic lymphoproliferative disorder of natural killer cells
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Orphanet_512017 |
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Autosomal recessive epidermolytic ichthyosis
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Orphanet_512103 |
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NK-cell lineage granular lymphocyte proliferative disorder
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Orphanet_512017 |
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Large granular lymphocyte leukemia
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Orphanet_512034 |
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