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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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Homocystinuria without methylmalonic aciduria
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Orphanet_622 |
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Pulmonary alveolar microlithiasis
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Orphanet_60025 |
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MKL1-related neutrophil motility defect
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Orphanet_619941 |
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X-linked hereditary motor and sensory neuropathy
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Orphanet_64747 |
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Rare hypokinetic movement disorder
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Orphanet_68402 |
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Autosomal dominant multiple pterygium syndrome
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Orphanet_65743 |
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Non-syndromic non-specific multiple suture synostosis
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Orphanet_620158 |
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Isolated non-specific multisutural craniosynostosis
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Orphanet_620158 |
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Non-syndromic non-specific multisutural craniosynostosis
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Orphanet_620158 |
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Finnish tibial muscular dystrophy
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Orphanet_609 |
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Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
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Orphanet_62 |
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Acute flaccid myelitis
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Orphanet_623801 |
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Limited dorsal myeloschisis
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Orphanet_645196 |
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MATR3-related distal myopathy
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Orphanet_600 |
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Proximal myotonic myopathy
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Orphanet_606 |
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