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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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ODED syndrome type 1
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Orphanet_391641 |
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Oculo-digito-esophageal-duodenal syndrome type 1
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Orphanet_391641 |
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Atriodigital dysplasia type 1
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Orphanet_392 |
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Heart-hand syndrome type 1
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Orphanet_392 |
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Brunner-Winter syndrome type 2
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Orphanet_391646 |
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Feingold syndrome type 2
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Orphanet_391646 |
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Glutaric aciduria type 2, mild type
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Orphanet_394532 |
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Glutaric aciduria type 2, severe neonatal type
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Orphanet_394529 |
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Charcot-Marie-Tooth disease type 2R
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Orphanet_397968 |
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Distal myopathy type 3
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Orphanet_399086 |
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Charcot-Marie-Tooth disease type 4K
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Orphanet_391351 |
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Melanoma of uvea
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Orphanet_39044 |
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Chronic diarrhea with HSAN
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Orphanet_397606 |
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Joubert syndrome with JATD
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Orphanet_397715 |
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Joubert syndrome with Jeune asphyxiating thoracic dystrophy
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Orphanet_397715 |
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