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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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Paraneoplastic cerebellar ataxia
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Orphanet_623626 |
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Immune-mediated cerebellar ataxia
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Orphanet_623638 |
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Acute cerebellar ataxia
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Orphanet_624244 |
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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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Juvenile muscular atrophy of distal upper extremity
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Orphanet_65684 |
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Juvenile muscular atrophy of the distal upper limb
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Orphanet_65684 |
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Costeff optic atrophy syndrome
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Orphanet_67047 |
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Infantile optic atrophy with chorea and spastic paraplegia
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Orphanet_67047 |
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Rare hereditary autoinflammatory disease
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Orphanet_619238 |
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F12-associated cold autoinflammatory syndrome
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Orphanet_617919 |
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Autosomal dominant axonal Charcot-Marie-Tooth disease
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Orphanet_64746 |
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IOBCC intramucosal basal cell carcinoma
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Orphanet_667678 |
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