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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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Mseleni joint disease
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Orphanet_2619 |
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Atypical Norrie disease due to Xp11.3 microdeletion
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Orphanet_261501 |
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Atypical Norrie disease due to del(X)(p11.3)
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Orphanet_261501 |
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Atypical Norrie disease due to nullisomy Xp11.3
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Orphanet_261501 |
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Maternal uniparental disomy of chromosome X
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Orphanet_261519 |
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Paternal uniparental disomy of chromosome X
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Orphanet_261524 |
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Syndromic bile duct paucity due to a JAG1 point mutation
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Orphanet_261619 |
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Syndromic bile duct paucity due to a NOTCH2 point mutation
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Orphanet_261629 |
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Syndromic bile duct paucity due to monosomy 20p12
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Orphanet_261600 |
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FOXG1 syndrome due to 14q12 microdeletion
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Orphanet_261144 |
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Alagille syndrome due to 20p12 microdeletion
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Orphanet_261600 |
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Okihiro syndrome due to 20q13 microdeletion
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Orphanet_261638 |
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Mowat-Wilson syndrome due to 2q22 microdeletion
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Orphanet_261537 |
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Alagille syndrome due to a JAG1 point mutation
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Orphanet_261619 |
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Alagille-Watson syndrome due to a JAG1 point mutation
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Orphanet_261619 |
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