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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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CAR T cell therapy-associated cytokine release syndrome
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Orphanet_542323 |
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Autosomal recessive childhood-onset dystonia, DYT29 type
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Orphanet_508093 |
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ACER3-related early childhood-onset progressive leukodystrophy
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Orphanet_502444 |
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Neonatal ichthyosis-sclerosing cholangitis syndrome
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Orphanet_59303 |
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Parenteral nutrition-associated cholestasis
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Orphanet_567983 |
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Blomstrand lethal chondrodysplasia
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Orphanet_50945 |
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Rare genetic choroidal disorder
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Orphanet_522584 |
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Punctate inner choroidopathy
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Orphanet_580951 |
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Incomplete septal cirrhosis
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Orphanet_596941 |
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NLRC4-related familial cold autoinflammatory syndrome
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Orphanet_576349 |
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NLRC4-related familial cold urticaria
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Orphanet_576349 |
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Aplastic desmosis coli
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Orphanet_565641 |
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Primary desmosis coli
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Orphanet_565641 |
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Familial cutaneous collagenoma
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Orphanet_53296 |
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aHUS with complement gene abnormality
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Orphanet_544472 |
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