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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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ALX1-related frontonasal dysplasia
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Orphanet_306542 |
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Congenital hereditary facial palsy with variable deafness
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Orphanet_306530 |
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Congenital hereditary facial palsy with variable hearing loss
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Orphanet_306530 |
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Congenital hereditary facial paralysis with variable deafness
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Orphanet_306530 |
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Acquired adult-onset immunodeficiency
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Orphanet_306431 |
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Benign familial infantile convulsions
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Orphanet_306 |
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Benign familial infantile epilepsy
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Orphanet_306 |
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Benign familial infantile seizures
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Orphanet_306 |
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JEB with interstitial lung disease and nephrotic syndrome
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Orphanet_306504 |
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Rare choreic movement disorder
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Orphanet_306715 |
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Rare paroxysmal movement disorder
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Orphanet_306768 |
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Rare tumor of gallbladder and EBT
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Orphanet_306633 |
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Rare tumor of gallbladder and extrahepatic biliary tract
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Orphanet_306633 |
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Rare tumor of liver and IBT
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Orphanet_306636 |
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Rare tumor of liver and intrahepatic biliary tract
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Orphanet_306636 |
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