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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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SAMS syndrome
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Orphanet_397623 |
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Familial hyperprolactinemia
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Orphanet_397685 |
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Ferro-cerebro-cutaneous syndrome
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Orphanet_397922 |
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MOMES syndrome
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Orphanet_397973 |
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Autosomal dominant Charcot-Marie-Tooth disease type 2U
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Orphanet_397735 |
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JBTS with JATD
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Orphanet_397715 |
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PrP systemic amyloidosis
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Orphanet_397606 |
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Hereditary isolated aplastic anemia
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Orphanet_397692 |
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Giant cell arteritis
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Orphanet_397 |
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Autosomal spastic ataxia type 2
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Orphanet_397946 |
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TCR-alpha-beta+ T-cell deficiency
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Orphanet_397959 |
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TCR-alpha-beta-positive T-cell deficiency
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Orphanet_397959 |
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Disseminated granulomatous dermatophytosis
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Orphanet_397587 |
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Combined immunodeficiency due to MALT1 deficiency
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Orphanet_397964 |
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Silver-Russell syndrome due to a point mutation
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Orphanet_397590 |
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