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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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Autosomal recessive spastic ataxia type 6
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Orphanet_98 |
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X-linked complex spastic paraplegia
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Orphanet_98888 |
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X-linked complicated spastic paraplegia
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Orphanet_98888 |
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Werner mesomelic spectrum
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Orphanet_988 |
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Neutral lipid storage disease type M
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Orphanet_98908 |
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Neutral lipid storage disease with ichthyosis
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Orphanet_98907 |
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Neutral lipid storage disease with myopathy
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Orphanet_98908 |
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Neutral lipid storage disease with myopathy without ichthyosis
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Orphanet_98908 |
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Craniostenosis with strabismus
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Orphanet_98684 |
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Posterior amorphous stromal dystrophy
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Orphanet_98971 |
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Hereditary crystalline stromal dystrophy of Schnyder
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Orphanet_98967 |
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Chromosome Y structural anomaly
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Orphanet_98158 |
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Chromosome X structural anomaly
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Orphanet_98159 |
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Early-onset anterior subcapsular cataract
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Orphanet_98988 |
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Neonatal epilepsy syndrome
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Orphanet_98257 |
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