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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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Citrullinemia
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Orphanet_187 |
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LGMD2H
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Orphanet_1878 |
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Cone dystrophy
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Orphanet_1871 |
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Jalili syndrome
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Orphanet_1873 |
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Bassoe syndrome
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Orphanet_1875 |
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Sarcotubular myopathy
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Orphanet_1878 |
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MSBD syndrome
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Orphanet_1879 |
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LGMD type 2H
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Orphanet_1878 |
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TRIM32-related LGMD R8
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Orphanet_1878 |
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Mixed sclerosing bone dystrophy
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Orphanet_1879 |
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Progressive cone dystrophy
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Orphanet_1871 |
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Cone rod dystrophy
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Orphanet_1872 |
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Oculogastrointestinal muscular dystrophy
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Orphanet_1876 |
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Limb-girdle muscular dystrophy due to TRIM32 deficiency
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Orphanet_1878 |
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Limb-girdle muscular dystrophy type 2H
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Orphanet_1878 |
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