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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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Nemaline rod myopathy
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Orphanet_607 |
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Inclusion body myopathy type 2
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Orphanet_602 |
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Autosomal dominant myosin storage myopathy
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Orphanet_636965 |
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Autosomal recessive myosin storage myopathy
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Orphanet_636970 |
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Inclusion body myositis
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Orphanet_611 |
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Dermatomyositis sine myositis
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Orphanet_645617 |
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Familial atrial myxoma
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Orphanet_615 |
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SBDS-related severe neonatal SMD
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Orphanet_622934 |
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Benign idiopathic neonatal seizures
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Orphanet_64545 |
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Benign nonfamilial neonatal seizures
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Orphanet_64545 |
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SBDS-related severe neonatal spondylometaphyseal dysplasia
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Orphanet_622934 |
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Multiple endocrine neoplasia type 1
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Orphanet_652 |
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Multiple endocrine neoplasia type 2
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Orphanet_653 |
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Metastatic vascular neoplasm
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Orphanet_673466 |
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Genetic steroid-resistant nephrotic syndrome
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Orphanet_656 |
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