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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.
Isolated genetic deafness
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Orphanet_87884 |
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Non-syndromic genetic deafness
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Orphanet_87884 |
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Rare intellectual disability
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Orphanet_87277 |
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Familial Lenègre disease
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Orphanet_871 |
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Familial Lev disease
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Orphanet_871 |
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Familial Lev-Lenègre disease
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Orphanet_871 |
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Desmoid type fibromatosis
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Orphanet_873 |
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Isolated genetic hearing loss
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Orphanet_87884 |
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Non-syndromic genetic hearing loss
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Orphanet_87884 |
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Familial progressive heart block
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Orphanet_871 |
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Primary adult heart tumor
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Orphanet_874 |
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Primary pediatric heart tumor
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Orphanet_875 |
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Transgrediens palmoplantar keratoderma of Siemens
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Orphanet_87503 |
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Cardiac tumor of child
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Orphanet_875 |
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Heart tumor of child
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Orphanet_875 |
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