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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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Secondary erythromelalgia
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Orphanet_529864 |
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Orbital leiomyoma
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Orphanet_52994 |
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Pilarowski-Bjornsson syndrome
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Orphanet_529965 |
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NFAT5 haploinsufficiency
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Orphanet_529980 |
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HAE with C1 inhibitor deficiency
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Orphanet_528623 |
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HAE with C1Inh deficiency
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Orphanet_528623 |
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Autosomal dominant Charcot-Marie-Tooth disease type 2DD
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Orphanet_521414 |
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Platelet type-von Willebrand disease
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Orphanet_52530 |
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Retinitis punctata albescens
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Orphanet_52427 |
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Familial leiomyomatosis and renal cell cancer
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Orphanet_523 |
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Hereditary leiomyomatosis and renal cell cancer
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Orphanet_523 |
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Multiple cutaneous and uterine leiomyomas
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Orphanet_523 |
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Congenital vertebral-cardiac-renal anomalies syndrome
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Orphanet_521438 |
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Lens size anomaly of genetic origin
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Orphanet_522550 |
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Lens position anomaly of genetic origin
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Orphanet_522552 |
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