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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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Acetazolamide-responsive congenital myotonia
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Orphanet_99736 |
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Painful congenital myotonia
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Orphanet_99736 |
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Isolated permanent neonatal diabetes mellitus
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Orphanet_99885 |
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Severe congenital neutropenia type 3
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Orphanet_99749 |
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DORV with non-committed subpulmonary VSD
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Orphanet_99046 |
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Complete AVSD-tetralogy of Fallot
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Orphanet_99068 |
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Subaortic course of brachiocephalic vein
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Orphanet_99113 |
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Abnormal number of coronary ostia
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Orphanet_99089 |
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Monogenic diabetes of infancy
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Orphanet_99885 |
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Subaortic course of innominate vein
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Orphanet_99113 |
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Abnormal origin of right or left pulmonary artery from the aorta
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Orphanet_99050 |
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Azygos continuation of the IVC
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Orphanet_99121 |
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Congenital stenosis of the IVC
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Orphanet_99122 |
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Azygos continuation of the inferior caval vein
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Orphanet_99121 |
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Congenital stenosis of the inferior caval vein
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Orphanet_99122 |
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