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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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Bartter syndrome
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Orphanet_112 |
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Mardini-Nyhan syndrome
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Orphanet_1120 |
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Lynch-Lee-Murday syndrome
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Orphanet_1123 |
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Kosztolanyi syndrome
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Orphanet_1129 |
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Van den Berghe-Dequecker syndrome
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Orphanet_1122 |
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Oculomotor apraxia, Cogan type
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Orphanet_1125 |
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Salt-wasting tubulopathy, Henle's loop type
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Orphanet_112 |
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Ocular motor apraxia, Cogan type
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Orphanet_1125 |
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Lung agenesis-heart defect-thumb anomalies syndrome
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Orphanet_1120 |
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Ulnar hypoplasia-lobster-claw deformity of feet syndrome
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Orphanet_1122 |
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Salt-losing tubular disorder, Henle's loop type
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Orphanet_112 |
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Aprosencephaly cerebellar dysgenesis
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Orphanet_1126 |
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Ulnar hypoplasia-split foot syndrome
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Orphanet_1122 |
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Radial deficiency-tibial hypoplasia syndrome
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Orphanet_1121 |
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Caudal appendage-hearing loss syndrome
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Orphanet_1123 |
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