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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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Anonychia-onychodystrophy syndrome
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Orphanet_90390 |
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Deletion 7q11.23
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Orphanet_904 |
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Monosomy 7q11.23
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Orphanet_904 |
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Williams syndrome
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Orphanet_904 |
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Williams-Beuren syndrome
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Orphanet_904 |
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Hepatolenticular degeneration
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Orphanet_905 |
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Wilson disease
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Orphanet_905 |
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Eczema-thrombocytopenia-immunodeficiency syndrome
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Orphanet_906 |
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Wiskott-Aldrich syndrome
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Orphanet_906 |
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Deafness-hypogonadism syndrome
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Orphanet_90646 |
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Taybi syndrome
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Orphanet_90650 |
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Genetic panhypopituitarism
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Orphanet_90695 |
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Non-acquired panhypopituitarism
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Orphanet_90695 |
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CYP11B1 deficiency
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Orphanet_90795 |
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FRAXA syndrome
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Orphanet_908 |
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