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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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Hereditary motor and sensory neuropathy type V
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Orphanet_64751 |
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Fibrolipomatous filum anomaly
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Orphanet_645279 |
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Central retinal artery occlusion
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Orphanet_648684 |
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Mandibuloacral dysplasia associated to MTX2
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Orphanet_647667 |
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PUM1-related cerebellar ataxia
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Orphanet_642747 |
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Autosomal recessive ataxia due to PEX16 deficiency
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Orphanet_642954 |
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Autosomal recessive ataxia due to PEX2 deficiency
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Orphanet_642965 |
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Adult-onset spinocerebellar ataxia type 47
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Orphanet_642747 |
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Autosomal dominant axonal Charcot-Marie-Tooth disease
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Orphanet_64746 |
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Closed spina bifida
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Orphanet_645202 |
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Occult spina bifida
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Orphanet_645202 |
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CPP in boy
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Orphanet_649929 |
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Non-syndromic congenital bronchial atresia
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Orphanet_649010 |
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Isolated left bronchial isomerism
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Orphanet_649029 |
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Non-syndromic bridging bronchus
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Orphanet_648992 |
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