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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 hypopigmentation of the skin
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Orphanet_183469 |
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Genetic respiratory or mediastinal malformation
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Orphanet_183554 |
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Genetic renal or urinary tract malformation
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Orphanet_183539 |
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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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Genetic skin photosensitivity
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Orphanet_183490 |
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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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Spondyloepiphyseal dysplasia-nephrotic syndrome
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Orphanet_1830 |
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Genetic overgrowth/obesity syndrome
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Orphanet_183573 |
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Genetic malformation syndrome with short stature
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Orphanet_183570 |
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Rare genetic syndromic intellectual disability
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Orphanet_183763 |
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Rare genetic thyroid disease
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Orphanet_183631 |
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