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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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Arteriohepatic dysplasia due to a JAG1 point mutation
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Orphanet_261619 |
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Alagille syndrome due to a NOTCH2 point mutation
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Orphanet_261629 |
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Alagille-Watson syndrome due to a NOTCH2 point mutation
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Orphanet_261629 |
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Arteriohepatic dysplasia due to a NOTCH2 point mutation
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Orphanet_261629 |
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Mowat-Wilson syndrome due to a ZEB2 point mutation
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Orphanet_261552 |
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Okihiro syndrome due to a point mutation
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Orphanet_261647 |
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Kleefstra syndrome due to a point mutation
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Orphanet_261652 |
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Mowat-Wilson syndrome due to del(2)q(22)
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Orphanet_261537 |
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Alagille syndrome due to del(20)(p12)
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Orphanet_261600 |
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Okihiro syndrome due to del(20)(q13)
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Orphanet_261638 |
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Alagille syndrome due to monosomy 20p12
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Orphanet_261600 |
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Alagille-Watson syndrome due to monosomy 20p12
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Orphanet_261600 |
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Arteriohepatic dysplasia due to monosomy 20p12
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Orphanet_261600 |
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Okihiro syndrome due to monosomy 20q13
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Orphanet_261638 |
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Mowat-Wilson syndrome due to monosomy 2q22
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Orphanet_261537 |
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