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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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Generalized PSS
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Orphanet_263543 |
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PME type 3
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Orphanet_263516 |
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PSS type A
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Orphanet_263548 |
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PSS type B
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Orphanet_263553 |
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Acute necrotizing encephalopathy of childhood
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Orphanet_263524 |
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Progressive myoclonic epilepsy due to KCTD7 deficiency
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Orphanet_263516 |
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Progressive myoclonic epilepsy type 3
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Orphanet_263516 |
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Progressive myoclonus epilepsy type 3
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Orphanet_263516 |
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Carbohydrate deficient glycoprotein syndrome type IIg
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Orphanet_263508 |
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Carbohydrate deficient glycoprotein syndrome type IIj
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Orphanet_263501 |
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Isolated acute necrotizing encephalopathy
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Orphanet_263524 |
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Congenital disorder of glycosylation type 2g
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Orphanet_263508 |
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Congenital disorder of glycosylation type 2j
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Orphanet_263501 |
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Congenital disorder of glycosylation type IIg
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Orphanet_263508 |
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Congenital disorder of glycosylation type IIj
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Orphanet_263501 |
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