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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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Microcephalic primordial dwarfism-insulin resistance syndrome
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Orphanet_436182 |
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NLRC4-related infantile enterocolitis-autoinflammatory syndrome
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Orphanet_436166 |
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Periodic fever-infantile enterocolitis-autoinflammatory syndrome
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Orphanet_436166 |
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Combined immunodeficiency-enteropathy spectrum
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Orphanet_436252 |
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5q23 microdeletion syndrome
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Orphanet_436003 |
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NLRC4-related autoinflammatory syndrome with MAS
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Orphanet_436166 |
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ALPS due to CTLA4 haploinsuffiency
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Orphanet_436159 |
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CTLA-4 haploinsufficiency with autoimmune infiltration disease
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Orphanet_436159 |
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PXE-like syndrome with retinitis pigmentosa
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Orphanet_436274 |
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