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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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DS-AMKL in children with trisomy 21
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Orphanet_99887 |
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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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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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Transient neonatal diabetes mellitus
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Orphanet_99886 |
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Nipah virus disease
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Orphanet_99825 |
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Green monkey disease
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Orphanet_99826 |
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Marburg virus disease
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Orphanet_99826 |
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Glycogen storage disease due to muscle beta-enolase deficiency
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Orphanet_99849 |
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Central hypothyroidism due to TRH receptor deficiency
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Orphanet_99832 |
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Cushing syndrome due to ectopic ACTH secretion
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Orphanet_99889 |
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Primary thymic epithelial neoplasm
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Orphanet_99867 |
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