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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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Kantaputra mesomelic dysplasia
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Orphanet_1836 |
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Rare genetic hypothalamic or pituitary disease
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Orphanet_183628 |
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Severe combined immunodeficiency
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Orphanet_183660 |
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Genetic respiratory malformation
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Orphanet_183622 |
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Congenital functional phagocyte defect
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Orphanet_183681 |
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Constitutional functional phagocyte defect
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Orphanet_183681 |
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Isolated IgG subclass deficiency
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Orphanet_183675 |
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Selective IgG subclass deficiency
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Orphanet_183675 |
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HIGM with susceptibility to opportunistic infections
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Orphanet_183663 |
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HIGM without susceptibility to opportunistic infections
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Orphanet_183666 |
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Rare genetic thyroid disease
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Orphanet_183631 |
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Genetic eye tumor
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Orphanet_183619 |
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Hermansky-Pudlak syndrome with neutropenia
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Orphanet_183678 |
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