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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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group of disorders
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Orphanet_557492 |
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Spastic ataxia-dysarthria due to glutaminase deficiency
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Orphanet_557056 |
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Rare disorder due to poisoning
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Orphanet_556508 |
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FLNA-related valvular dystrophy
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Orphanet_555877 |
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Limb-girdle muscular dystrophy type 1F
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Orphanet_55595 |
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Limb-girdle muscular dystrophy type 1G
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Orphanet_55596 |
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Neonatal epileptic encephalopathy due to glutaminase deficiency
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Orphanet_557064 |
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Early-onset familial hyperreninemic hypoaldosteronism
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Orphanet_556030 |
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Late-onset familial hyperreninemic hypoaldosteronism
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Orphanet_556037 |
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Early-onset familial hypoaldosteronism
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Orphanet_556030 |
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Late-onset familial hypoaldosteronism
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Orphanet_556037 |
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Early-onset calcifying leukoencephalopathy-skeletal dysplasia
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Orphanet_556985 |
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Autosomal dominant limb-girdle muscular dystrophy type 1F
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Orphanet_55595 |
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Autosomal dominant limb-girdle muscular dystrophy type 1G
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Orphanet_55596 |
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Adamantinoma of long bones
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Orphanet_55881 |
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