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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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Postural orthostatic tachycardia syndrome due to NET deficiency
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Orphanet_443236 |
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Porphyria cutanea tarda type I
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Orphanet_443057 |
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Porphyria cutanea tarda type II
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Orphanet_443062 |
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Necrotizing soft tissue infection
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Orphanet_440368 |
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CID due to DOCK2 deficiency
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Orphanet_447737 |
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CID due to LRBA deficiency
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Orphanet_445018 |
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POTS due to NET deficiency
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Orphanet_443236 |
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CID due to PGM3 deficiency
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Orphanet_443811 |
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LGMD due to POMK deficiency
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Orphanet_445110 |
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Keratocystic odontogenic tumor
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Orphanet_447777 |
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Gastrointestinal stromal tumor
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Orphanet_44890 |
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Brachyolmia, Hobaek/Toledo type
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Orphanet_448242 |
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Charcot-Marie-Tooth disease type 2S
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Orphanet_443073 |
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3-methylglutaconic aciduria type 7
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Orphanet_445038 |
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CDG syndrome type Iz
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Orphanet_448010 |
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