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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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Johnson neuroectodermal syndrome
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Orphanet_2316 |
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Cleft lip/palate-abnormal thumbs-microcephaly syndrome
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Orphanet_2319 |
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AD-HIES due to STAT3 deficiency
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Orphanet_2314 |
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CID due to partial RAG1 deficiency
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Orphanet_231154 |
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Ectopic aldosterone-producing tumor
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Orphanet_231632 |
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Extra-adrenal aldosterone-producing tumor
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Orphanet_231632 |
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Usher syndrome type 1
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Orphanet_231169 |
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Usher syndrome type 2
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Orphanet_231178 |
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Usher syndrome type 3
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Orphanet_231183 |
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Congenital IGHD type IA
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Orphanet_231662 |
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Congenital IGHD type IB
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Orphanet_231671 |
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Congenital IGHD type II
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Orphanet_231679 |
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Congenital IGHD type III
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Orphanet_231692 |
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Joubert syndrome with Senior-Loken syndrome
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Orphanet_2318 |
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Beta-thalassemia associated with another Hb anomaly
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Orphanet_231230 |
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