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| created at |
2024-09-23 16:23:50 UTC |
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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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Obesity due to CEP19 deficiency
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Orphanet_397615 |
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SCID due to IKK2 deficiency
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Orphanet_397787 |
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Charcot-Marie-Tooth disease type 2R
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Orphanet_397968 |
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Chronic diarrhea with HSAN
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Orphanet_397606 |
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Joubert syndrome with JATD
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Orphanet_397715 |
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Joubert syndrome with Jeune asphyxiating thoracic dystrophy
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Orphanet_397715 |
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Cerebro-cutaneous syndrome with iron overload
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Orphanet_397922 |
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Periodic paralysis with later-onset distal motor neuropathy
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Orphanet_397750 |
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Periodic paralysis with transient compartment-like syndrome
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Orphanet_397755 |
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