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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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CADASIL
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Orphanet_136 |
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Carnosinase deficiency
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Orphanet_1361 |
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Cataract-alopecia-sclerodactyly syndrome
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Orphanet_1366 |
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Cataract-ataxia-deafness syndrome
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Orphanet_1368 |
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Sengers syndrome
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Orphanet_1369 |
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Palmoplantar keratoderma and congenital alopecia, Wallis type
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Orphanet_1366 |
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Hereditary multi-infarct dementia
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Orphanet_136 |
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Cataract-ataxia-hearing loss syndrome
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Orphanet_1368 |
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PPK-CA, Wallis type
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Orphanet_1366 |
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