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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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DILE
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Orphanet_231111 |
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RTPS
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Orphanet_231108 |
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UPD(11)mat
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Orphanet_231147 |
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USH1
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Orphanet_231169 |
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USH2
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Orphanet_231178 |
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USH3
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Orphanet_231183 |
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Jarcho-Levin syndrome
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Orphanet_2311 |
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Familial berry aneurysm
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Orphanet_231160 |
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Beckwith-Wiedemann syndrome due to 11p15 microdeletion
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Orphanet_231127 |
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Silver-Russell syndrome due to 11p15 microduplication
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Orphanet_231144 |
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Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
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Orphanet_231130 |
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Silver-Russell syndrome due to 7p11.2-p13 microduplication
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Orphanet_231137 |
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Silver-Russell syndrome due to 7p11.2p13 microduplication
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Orphanet_231137 |
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Beckwith-Wiedemann syndrome due to CDKN1C mutation
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Orphanet_231120 |
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Silver-Russell syndrome due to an imprinting defect of 11p15
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Orphanet_231140 |
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