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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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Congenital-onset Steinert myotonic dystrophy
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Orphanet_589821 |
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Childhood-onset Steinert myotonic dystrophy
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Orphanet_589824 |
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Juvenile-onset Steinert myotonic dystrophy
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Orphanet_589827 |
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Adult-onset Steinert myotonic dystrophy
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Orphanet_589830 |
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Late-onset Steinert myotonic dystrophy
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Orphanet_589833 |
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SMD-corneal dystrophy syndrome
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Orphanet_589435 |
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MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1
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Orphanet_589534 |
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MPAL with t(v;11q23.3); KMT2A rearranged
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Orphanet_589595 |
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MPAL with t(v;11q23.3); MLL rearranged
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Orphanet_589595 |
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Spinocerebellar ataxia type 45
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Orphanet_589527 |
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Spinocerebellar ataxia type 46
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Orphanet_589522 |
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Myeloid/lymphoid neoplasms with PCM1-JAK2
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Orphanet_589542 |
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