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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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Late hereditary endothelial dystrophy
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Orphanet_98974 |
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Progressive myoclonic epilepsy
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Orphanet_98261 |
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Progressive myoclonus epilepsy
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Orphanet_98261 |
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Familial focal epilepsy with variable foci
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Orphanet_98820 |
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Familial partial epilepsy with variable foci
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Orphanet_98820 |
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Cogan microcystic epithelial dystrophy
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Orphanet_98956 |
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Juvenile hereditary epithelial dystrophy of Meesmann
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Orphanet_98954 |
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Malposition of external canthus
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Orphanet_98576 |
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Coloboma of eye lens
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Orphanet_98943 |
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Coloboma of eyelid
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Orphanet_98946 |
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Syndromic ankyloblepharon filiforme adnatum
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Orphanet_98565 |
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Congenital arteriovenous fistula
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Orphanet_98731 |
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Primary congenital glaucoma
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Orphanet_98976 |
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Hypoplastic right heart syndrome
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Orphanet_98723 |
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Rare constitutional hemolytic anemia due to an enzyme disorder
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Orphanet_98369 |
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