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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.
Huntington disease-like 2
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Orphanet_98934 |
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CDA type 3
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Orphanet_98870 |
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Huntington disease-like 4
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Orphanet_98759 |
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Syndrome with 46,XY DSD
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Orphanet_98087 |
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Syndrome with 46,XY difference of sex development
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Orphanet_98087 |
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Syndrome with 46,XY disorder of sex development
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Orphanet_98087 |
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Distal-HMN type 6
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Orphanet_98920 |
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Primary systemic ALCL
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Orphanet_98841 |
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Unilateral Pulmonary Artery Absence
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Orphanet_980 |
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Intravascular large B-cell lymphoma
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Orphanet_98839 |
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Autosomal recessive Charcot-Marie-Tooth disease type 2B1
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Orphanet_98856 |
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Primary dystonia, DYT13 type
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Orphanet_98807 |
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Primary dystonia, DYT4 type
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Orphanet_98805 |
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Primary dystonia, DYT6 type
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Orphanet_98806 |
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Severe dystrophinopathy, Duchenne type
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Orphanet_98896 |
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