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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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RHOA-related mosaic ectodermal dysplasia
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Orphanet_589608 |
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Syndromic genetic ectopia lentis
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Orphanet_522554 |
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Hereditary angioneurotic edema with C1 inhibitor deficiency
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Orphanet_528623 |
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Acquired angioneurotic edema with C1 inhibitor deficiency
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Orphanet_528663 |
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Hereditary angioneurotic edema with C1Inh deficiency
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Orphanet_528623 |
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Acquired angioneurotic edema with C1Inh deficiency
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Orphanet_528663 |
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Hereditary angioneurotic edema with normal C1 inhibitor
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Orphanet_528647 |
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Hereditary angioneurotic edema with normal C1Inh
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Orphanet_528647 |
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Acute disseminated encephalomyelitis with anti-MOG antibodies
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Orphanet_592894 |
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Acute disseminated encephalomyelitis without anti-MOG antibodies
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Orphanet_592900 |
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Acute bilirubin encephalopathy
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Orphanet_529799 |
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Chronic bilirubin encephalopathy
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Orphanet_529808 |
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FOXG1-related epileptic-dyskinetic encephalopathy
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Orphanet_561854 |
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Transmissible spongiform encephalopathy
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Orphanet_56970 |
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Neonatal epileptic encephalopathy due to glutaminase deficiency
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Orphanet_557064 |
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