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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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Familial sick sinus syndrome
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Orphanet_166282 |
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Lethal tight skin-contracture syndrome
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Orphanet_1662 |
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Guízar Vázquez-Luengas-Muñoz syndrome
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Orphanet_1661 |
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Lethal hyperkeratosis-contracture syndrome
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Orphanet_1662 |
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Dentinogenesis imperfecta type 2
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Orphanet_166260 |
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Stickler syndrome type 3
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Orphanet_166100 |
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Dentinogenesis imperfecta type 3
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Orphanet_166265 |
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Pontocerebellar hypoplasia type 4
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Orphanet_166063 |
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Pontocerebellar hypoplasia type 6
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Orphanet_166073 |
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Neurocutaneous syndrome with epilepsy
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Orphanet_166466 |
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Monogenic disease with epilepsy
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Orphanet_166472 |
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Cerebral malformation with epilepsy
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Orphanet_166478 |
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Metabolic diseases with epilepsy
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Orphanet_166481 |
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Infectious disease with epilepsy
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Orphanet_166490 |
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Chromosomal anomaly with epilepsy as a major feature
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Orphanet_166469 |
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