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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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Glycogenosis type XII
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Orphanet_57 |
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Microcephaly-short stature-limb abnormalities syndrome
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Orphanet_572773 |
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Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
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Orphanet_575553 |
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Balanced complete atrioventricular canal
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Orphanet_576227 |
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Unbalanced partial atrioventricular canal
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Orphanet_576232 |
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Balanced partial atrioventricular canal
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Orphanet_576235 |
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Familial cold autoinflammatory syndrome 4
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Orphanet_576349 |
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Intermediate atrioventricular canal defect
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Orphanet_576242 |
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Transitional atrioventricular canal defect
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Orphanet_576242 |
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NLRC4-related familial cold autoinflammatory syndrome
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Orphanet_576349 |
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NLRC4-related familial cold urticaria
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Orphanet_576349 |
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Immunodeficiency by defective expression of MHC class II
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Orphanet_572 |
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Galactose mutarotase deficiency
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Orphanet_570422 |
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N-acetylglucosamine 1-phosphotransferase deficiency
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Orphanet_576 |
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Riboflavin transporter deficiency 2
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Orphanet_572543 |
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