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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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Genetic HLH
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Orphanet_158038 |
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Primary HLH
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Orphanet_158038 |
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Genetic dementia
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Orphanet_158124 |
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McGrath syndrome
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Orphanet_158668 |
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Deletion 13q14
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Orphanet_1587 |
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Monosomy 13q14
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Orphanet_1587 |
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CACT deficiency
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Orphanet_159 |
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13q32 deletion
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Orphanet_1590 |
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Deletion 13q32
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Orphanet_1590 |
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Monosomy 13q32
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Orphanet_1590 |
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Monosomy 15q26
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Orphanet_1596 |
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Monosomy 17qter
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Orphanet_1597 |
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18p- syndrome
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Orphanet_1598 |
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Monosomy 18p
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Orphanet_1598 |
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Huntington disease-like 1
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Orphanet_157941 |
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