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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.
MC4R deficiency
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Orphanet_71529 |
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PAH deficiency
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Orphanet_716 |
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Retinal dystrophy
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Orphanet_71862 |
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Muscular channelopathy
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Orphanet_71864 |
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Acrocephalosyndactyly type 5
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Orphanet_710 |
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GSD type 9D
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Orphanet_715 |
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Glycogenosis type 9D
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Orphanet_715 |
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GSD type 9E
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Orphanet_715 |
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Glycogenosis type 9E
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Orphanet_715 |
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GSD type IXd
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Orphanet_715 |
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Glycogenosis type IXd
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Orphanet_715 |
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GSD type IXe
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Orphanet_715 |
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Glycogenosis type IXe
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Orphanet_715 |
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Isolated Pierre Robin sequence
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Orphanet_718 |
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Isolated Pierre Robin syndrome
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Orphanet_718 |
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