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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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8q22.1 microdeletion syndrome
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Orphanet_178303 |
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Aromatase excess syndrome
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Orphanet_178345 |
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Osteosclerosis-developmental delay-craniosynostosis syndrome
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Orphanet_178377 |
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Congenital vertical talus
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Orphanet_178382 |
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Infant intestinal toxemia botulism
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Orphanet_178478 |
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Adult intestinal toxemia botulism
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Orphanet_178487 |
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Infant intestinal toxin-mediated botulism
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Orphanet_178478 |
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Adult intestinal toxin-mediated botulism
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Orphanet_178487 |
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Inflammatory myofibroblastic tumor
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Orphanet_178342 |
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Syndromic microphthalmia type 5
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Orphanet_178364 |
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Distal myopathy with anterior tibial onset
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Orphanet_178400 |
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Hereditary myopathy with early respiratory failure
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Orphanet_178464 |
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Myofibrillar myopathy with early respiratory failure
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Orphanet_178464 |
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X-linked myopathy with postural muscle atrophy
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Orphanet_178461 |
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