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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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RCDP
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Orphanet_177 |
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Syndromic hypothyroidism
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Orphanet_177107 |
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45,X/46,XY MGD
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Orphanet_1772 |
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45,X0/46,XY MGD
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Orphanet_1772 |
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Dyskeratosis congenita
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Orphanet_1775 |
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Zinsser-Engman-Cole syndrome
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Orphanet_1775 |
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Temtamy syndrome
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Orphanet_1777 |
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Temtamy-Shalash syndrome
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Orphanet_1777 |
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Seaver-Cassidy syndrome
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Orphanet_1778 |
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Prader-Willi syndrome due to imprinting mutation
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Orphanet_177910 |
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Prader-Willi syndrome due to translocation
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Orphanet_177907 |
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45,X/46,XY mixed gonadal dysgenesis
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Orphanet_1772 |
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45,X0/46,XY mixed gonadal dysgenesis
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Orphanet_1772 |
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XY type gonadal dysgenesis-associated anomalies syndrome
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Orphanet_1770 |
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Rare adult hypothyroidism
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Orphanet_177101 |
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