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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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Gastrointestinal stromal sarcoma
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Orphanet_44890 |
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Benign congenital sixth cranial nerve palsy
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Orphanet_440233 |
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Autosomal dominant spastic paraplegia type 73
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Orphanet_444099 |
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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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Caudal regression-sirenomelia spectrum
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Orphanet_444941 |
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Early-onset posterior subcapsular cataract
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Orphanet_441447 |
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Focal stiff-person syndrome
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Orphanet_443804 |
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Stiff leg syndrome
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Orphanet_443804 |
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11q22.2q22.3 microdeletion syndrome
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Orphanet_444002 |
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20q11.2 microdeletion syndrome
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Orphanet_444051 |
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Familial chylomicronemia syndrome
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Orphanet_444490 |
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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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