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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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Familial cold autoinflammatory syndrome 4
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Orphanet_576349 |
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Intermediate atrioventricular canal defect
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Orphanet_576242 |
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Transitional atrioventricular canal defect
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Orphanet_576242 |
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NLRC4-related familial cold autoinflammatory syndrome
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Orphanet_576349 |
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NLRC4-related familial cold urticaria
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Orphanet_576349 |
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N-acetylglucosamine 1-phosphotransferase deficiency
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Orphanet_576 |
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Variant Creutzfeldt-Jakob disease
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Orphanet_576370 |
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Iatrogenic Creutzfeldt-Jakob disease
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Orphanet_576379 |
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SATB2-associated syndrome due to a pathogenic variant
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Orphanet_576283 |
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SATB2-associated syndrome due to a point mutation
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Orphanet_576283 |
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Idiopathic human prion disease
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Orphanet_576356 |
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Sporadic human prion disease
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Orphanet_576356 |
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Acquired human prion disease
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Orphanet_576360 |
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Infectious human prion disease
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Orphanet_576360 |
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Middle East respiratory syndrome
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Orphanet_576074 |
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