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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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Partial trisomy of chromosome 19p
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Orphanet_447985 |
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Partial duplication of the short arm of chromosome 19
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Orphanet_447985 |
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Partial trisomy of the short arm of chromosome 19
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Orphanet_447985 |
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Hereditary adult-onset painful axonal polyneuropathy
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Orphanet_447964 |
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Combined oxidative phosphorylation defect type 25
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Orphanet_447954 |
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Autosomal dominant spastic paraplegia type 9A
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Orphanet_447753 |
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Autosomal dominant spastic paraplegia type 9B
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Orphanet_447757 |
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Autosomal recessive spastic paraplegia type 9B
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Orphanet_447760 |
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Tremor-ataxia-central hypomyelination syndrome
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Orphanet_447896 |
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19p13.3 microduplication syndrome
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Orphanet_447980 |
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CID due to DOCK2 deficiency
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Orphanet_447737 |
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Keratocystic odontogenic tumor
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Orphanet_447777 |
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Biological anomaly without phenotypic characterization
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Orphanet_447874 |
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