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| created at |
2024-09-23 16:23:50 UTC |
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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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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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Hermansky-Pudlak syndrome due to BLOC-1 deficiency
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Orphanet_231531 |
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Hermansky-Pudlak syndrome due to BLOC-2 deficiency
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Orphanet_231512 |
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Hermansky-Pudlak syndrome due to BLOC-3 deficiency
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Orphanet_231500 |
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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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Silver-Russell syndrome due to dup(7)(p11.2p13)
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Orphanet_231137 |
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Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
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Orphanet_231117 |
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Combined immunodeficiency due to partial RAG1 deficiency
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Orphanet_231154 |
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Silver-Russell syndrome due to trisomy 7p11.2-p13
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Orphanet_231137 |
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Silver-Russell syndrome due to trisomy 7p11.2p13
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Orphanet_231137 |
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Drug-induced lupus erythematosus
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Orphanet_231111 |
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