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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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Genetic neurodegenerative disease
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Orphanet_183500 |
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Genetic glomerular disease
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Orphanet_183586 |
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Genetic neuro-ophthalmological disease
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Orphanet_183616 |
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Infantile LAD-like disease due to RAC2 deficiency
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Orphanet_183707 |
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Genetic epidermal disorder
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Orphanet_183426 |
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Genetic dermis disorder
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Orphanet_183472 |
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Hermansky-Pudlak syndrome due to AP-3 deficiency
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Orphanet_183678 |
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Bacterial susceptibility due to TLR signaling pathway deficiency
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Orphanet_183713 |
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Schimke immuno-osseous dysplasia
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Orphanet_1830 |
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Osteosclerotic bone dysplasia
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Orphanet_1832 |
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Kantaputra mesomelic dysplasia
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Orphanet_1836 |
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Hereditary mucoepithelial dysplasia
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Orphanet_1839 |
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Axial mesodermal dysplasia spectrum
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Orphanet_1834 |
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Rare genetic epilepsy
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Orphanet_183512 |
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Genetic sebaceous gland anomaly
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Orphanet_183460 |
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