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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.
Inherited GS deficiency
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Orphanet_71278 |
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Phenylalanine hydroxylase deficiency
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Orphanet_716 |
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Classic GLUT1 deficiency syndrome
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Orphanet_71277 |
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Chylomicron retention disease
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Orphanet_71 |
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De Vivo disease
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Orphanet_71277 |
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Glycogen storage disease type 9D
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Orphanet_715 |
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Glycogen storage disease type 9E
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Orphanet_715 |
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Glycogen storage disease type IXd
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Orphanet_715 |
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Glycogen storage disease type IXe
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Orphanet_715 |
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Inherited retinal disorder
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Orphanet_71862 |
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Rare bleeding disorder due to a constitutional platelet anomaly
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Orphanet_71202 |
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Familial platelet disorder with associated myeloid malignancy
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Orphanet_71290 |
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Psychogenic movement disorders
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Orphanet_71519 |
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Leiomyomatosis peritonealis disseminate
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Orphanet_71274 |
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Rare coagulopathy due to a constitutional platelet anomaly
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Orphanet_71202 |
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