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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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HAE with C1Inh deficiency
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Orphanet_528623 |
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Primary cutaneous CD30+ T-cell lymphoproliferative disease
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Orphanet_541 |
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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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De la Chapelle dysplasia
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Orphanet_56304 |
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Autosomal dominant Charcot-Marie-Tooth disease type 2DD
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Orphanet_521414 |
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HNRNPDL-related LGMD D3
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Orphanet_55596 |
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LGMD type D4
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Orphanet_565909 |
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GRIN2B-Related Neurodevelopmental Disorder
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Orphanet_589547 |
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B3GALT6-related spondylodysplastic EDS
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Orphanet_536467 |
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RNF13-related severe EOEE
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Orphanet_544503 |
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B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
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Orphanet_536467 |
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Idiopathic non-lupus FHN
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Orphanet_567544 |
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S. pneumoniae-associated HUS
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Orphanet_544493 |
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