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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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Congenital Gerbode defect
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Orphanet_99095 |
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Ventricular septal defect with aortic insufficiency
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Orphanet_99094 |
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Atrial septal defect, coronary sinus type
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Orphanet_99104 |
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Atrial septal defect, ostium primum type
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Orphanet_99106 |
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Atrial septal defect, ostium secundum type
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Orphanet_99103 |
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Atrial septal defect, sinus venosus type
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Orphanet_99105 |
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6-phosphogluconate dehydrogenase deficiency
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Orphanet_99135 |
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Muscle enolase deficiency
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Orphanet_99849 |
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Muscular enolase deficiency
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Orphanet_99849 |
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Sulfite oxidase deficiency due to molybdenum cofactor deficiency
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Orphanet_99732 |
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Leukocyte adhesion deficiency type I
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Orphanet_99842 |
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Leukocyte adhesion deficiency type II
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Orphanet_99843 |
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Leukocyte adhesion deficiency type III
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Orphanet_99844 |
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Leukocyte adhesion deficiency-1 variant
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Orphanet_99844 |
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Fetal akinesia deformation sequence
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Orphanet_994 |
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