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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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Intermediate AVSD
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Orphanet_576242 |
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SATB2-associated syndrome
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Orphanet_576278 |
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Variant MCJ
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Orphanet_576370 |
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Iatrogenic MCJ
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Orphanet_576379 |
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Genetic HUS
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Orphanet_576742 |
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Pseudo-Hurler polydystrophy
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Orphanet_577 |
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Cirrhotic cardiomyopathy
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Orphanet_57777 |
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Mazabraud syndrome
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Orphanet_57782 |
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Alpha-L-iduronidase deficiency
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Orphanet_579 |
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BPES type 1
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Orphanet_572354 |
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Mucopolysaccharidosis type 1
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Orphanet_579 |
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GSD type 12
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Orphanet_57 |
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Glycogenosis type 12
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Orphanet_57 |
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BPES type 2
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Orphanet_572361 |
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SCM type 2
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Orphanet_573253 |
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