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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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Sporadic porphyria cutanea tarda
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Orphanet_443057 |
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Familial porphyria cutanea tarda
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Orphanet_443062 |
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Ribose-5-P isomerase deficiency
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Orphanet_440706 |
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Isolated SHPK deficiency
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Orphanet_440713 |
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Isolated sedoheptulokinase deficiency
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Orphanet_440713 |
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Ventriculomegaly-cystic kidney disease
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Orphanet_443988 |
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Zika virus disease
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Orphanet_448237 |
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IgG4-related kidney disease
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Orphanet_449395 |
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IgG4-related ophthalmic disease
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Orphanet_449563 |
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Interstitial lung disease due to ABCA3 deficiency
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Orphanet_440402 |
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Interstitial lung disease due to SP-C deficiency
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Orphanet_440392 |
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Interstitial lung disease due to surfactant protein C deficiency
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Orphanet_440392 |
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DNAJB2-related Charcot-Marie-Tooth disease type 2
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Orphanet_443950 |
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PGM3-related congenital disorder of glycosylation
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Orphanet_443811 |
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Progressive scapulohumeroperoneal distal myopathy
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Orphanet_447977 |
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