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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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Galactosemia type 4
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Orphanet_570422 |
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Brachydactyly type B1
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Orphanet_572385 |
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Transient antenatal Bartter syndrome
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Orphanet_570371 |
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HHV-8-negative multicentric Castleman disease
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Orphanet_570431 |
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Idiopathic multicentric Castleman disease
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Orphanet_570431 |
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HHV-8-associated multicentric Castleman disease
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Orphanet_570438 |
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Mucopolysaccharidosis type I
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Orphanet_579 |
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SCM type II
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Orphanet_573253 |
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Mucolipidosis type II
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Orphanet_576 |
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Mucolipidosis type II alpha/beta
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Orphanet_576 |
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MHC class II deficiency
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Orphanet_572 |
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Mucolipidosis type III
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Orphanet_577 |
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Mucolipidosis type IV
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Orphanet_578 |
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Autosomal recessive MSMD due to partial JAK1 deficiency
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Orphanet_574957 |
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GSD type XII
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Orphanet_57 |
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