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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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Sickle cell disease associated with another hemoglobin anomaly
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Orphanet_251355 |
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Sickle cell-beta-thalassemia disease syndrome
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Orphanet_251359 |
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HPFH-sickle cell disease syndrome
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Orphanet_251380 |
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Paternal uniparental disomy of chromosome 1
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Orphanet_251004 |
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Maternal uniparental disomy of chromosome 1
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Orphanet_251009 |
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Familial osteochondritis dissecans
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Orphanet_251262 |
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Toxic or drug-related embryofetopathy
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Orphanet_251529 |
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Multiple epiphyseal dysplasia
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Orphanet_251 |
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SATB2-associated syndrome due to a chromosomal rearrangement
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Orphanet_251028 |
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Maternal disease-related embryofetopathy
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Orphanet_251535 |
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Localized junctional epidermolysis bullosa
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Orphanet_251393 |
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Medulloblastoma with extensive nodularity
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Orphanet_251858 |
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Unexplained long-lasting fever/inflammatory syndrome
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Orphanet_251332 |
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Giant cell glioblastoma
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Orphanet_251579 |
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46,XY partial gonadal dysgenesis
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Orphanet_251510 |
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