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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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Agammaglobulinemia
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Orphanet_183669 |
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SCID
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Orphanet_183660 |
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Genetic polyendocrinopathy
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Orphanet_183643 |
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Kappa-chain deficiency
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Orphanet_183675 |
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Mesomelic dysplasia, Kantaputra type
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Orphanet_1836 |
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Mesomelic dysplasia, Thai type
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Orphanet_1836 |
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Rare genetic adrenal disease
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Orphanet_183637 |
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Genetic lens and zonula anomaly
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Orphanet_183607 |
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Rare constitutional anemia
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Orphanet_183651 |
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Rare genetic coagulation disorder
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Orphanet_183654 |
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Congenital functional defect of phagocyte
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Orphanet_183681 |
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IgG subclass deficiency with IgA subclass deficiency
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Orphanet_183675 |
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Rare genetic diabetes mellitus
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Orphanet_183625 |
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Genetic neuro-ophthalmological disease
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Orphanet_183616 |
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Hermansky-Pudlak syndrome due to AP-3 deficiency
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Orphanet_183678 |
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