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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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Sex chromosome DSD
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Orphanet_325546 |
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Genetic 46,XX DSD
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Orphanet_325697 |
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Genetic 46,XY DSD
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Orphanet_325706 |
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Genetic 46,XY DSD of endocrine origin
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Orphanet_325713 |
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Syndrome with DSD of gynecological interest
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Orphanet_325638 |
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ABeta amyloidosis, Flemish type
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Orphanet_324718 |
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Congenital factor II deficiency
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Orphanet_325 |
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ABeta amyloidosis, Iowa type
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Orphanet_324708 |
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ABeta amyloidosis, Italian type
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Orphanet_324713 |
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Transient neonatal MAD deficiency
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Orphanet_329942 |
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Transient neonatal MADD
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Orphanet_329942 |
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ABeta amyloidosis, Piedmont type
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Orphanet_324703 |
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Isolated succinate-coenzyme Q reductase deficiency
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Orphanet_3208 |
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Congenital factor V deficiency
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Orphanet_326 |
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Congenital factor VII deficiency
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Orphanet_327 |
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