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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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Acquired cystic disease-associated renal cell carcinoma
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Orphanet_404514 |
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Female infertility due to zona pellucida defect
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Orphanet_404466 |
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Dysostosis of genetic origin
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Orphanet_404568 |
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X-linked distal hereditary motor neuropathy
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Orphanet_404538 |
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Polyarticular juvenile idiopathic arthritis
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Orphanet_404580 |
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Rare female infertility due to oocyte maturation defect
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Orphanet_404469 |
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Familial atypical mole syndrome
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Orphanet_404560 |
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Familial atypical multiple mole melanoma syndrome
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Orphanet_404560 |
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Multisystemic smooth muscle dysfunction syndrome
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Orphanet_404463 |
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Diaphragmatic spinal muscular atrophy type 2
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Orphanet_404521 |
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X-linked spinal muscular atrophy with respiratory distress
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Orphanet_404521 |
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Familial dysplastic nevus syndrome
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Orphanet_404560 |
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Clear cell papillary renal cell carcinoma
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Orphanet_404511 |
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Rare genetic skeletal development disorder
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Orphanet_404584 |
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X-linked distal spinal muscular atrophy
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Orphanet_404538 |
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