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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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Xanthine dehydrogenase deficiency
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Orphanet_93601 |
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Xanthine oxidase deficiency
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Orphanet_93601 |
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Xanthine oxidoreductase deficiency
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Orphanet_93601 |
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Isolated ulnar deficiency of forearm
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Orphanet_93320 |
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Heavy chain deposition disease
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Orphanet_93556 |
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Light chain deposition disease
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Orphanet_93558 |
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Renal dysfunction-early-onset diabetes syndrome
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Orphanet_93111 |
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X-linked intellectual disability, Golabi-Ito-Hall type
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Orphanet_93947 |
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X-linked intellectual disability, Hedera type
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Orphanet_93952 |
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X-linked intellectual disability, Porteous type
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Orphanet_93945 |
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X-linked intellectual disability, Sutherland-Haan type
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Orphanet_93950 |
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Rare bone disease
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Orphanet_93419 |
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Dense deposit disease
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Orphanet_93571 |
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Hemoglobin H disease
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Orphanet_93616 |
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Rare renal disease
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Orphanet_93626 |
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