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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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Osteonecrosis of genetic origin
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Orphanet_399380 |
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46,XX testicular disorder of sex development
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Orphanet_393 |
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Asparagine synthetase deficiency
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Orphanet_391376 |
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2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
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Orphanet_391417 |
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Cystathionine beta-synthase deficiency
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Orphanet_394 |
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TCR-alpha-beta+ T-cell deficiency
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Orphanet_397959 |
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TCR-alpha-beta-positive T-cell deficiency
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Orphanet_397959 |
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Transient neonatal acquired myasthenia
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Orphanet_391504 |
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Appendiceal mucinous adenocarcinoma
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Orphanet_391723 |
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Ovarian mucinous adenocarcinoma
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Orphanet_398961 |
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Clear cell adenocarcinoma of the ovary
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Orphanet_398971 |
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KLHL9-related early-onset distal myopathy
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Orphanet_399081 |
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Nebulin-related early-onset distal myopathy
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Orphanet_399103 |
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Osteochondrosis of genetic origin
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Orphanet_399391 |
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Adult-onset myasthenia gravis
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Orphanet_391490 |
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