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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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Summertime actinic lichenoid eruption
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Orphanet_254395 |
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Autosomal recessive limb-girdle muscular dystrophy type 2Q
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Orphanet_254361 |
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Early-onset generalized limb-onset dystonia
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Orphanet_256 |
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Microphthalmia with linear skin defects syndrome
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Orphanet_2556 |
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Serpinopathy with loss of serpin function
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Orphanet_250811 |
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Myoclonus-cerebellar ataxia-hearing loss syndrome
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Orphanet_2589 |
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Microcephaly-cardiac defect-lung malsegmentation syndrome
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Orphanet_2516 |
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Anaplastic/large cell medulloblastoma
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Orphanet_251855 |
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Diffuse leptomeningeal melanocytosis
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Orphanet_252031 |
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Tumor of meninges
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Orphanet_252025 |
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Distal 7q11.23 microdeletion syndrome
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Orphanet_254351 |
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Lethal infantile mitochondrial disease
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Orphanet_254857 |
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Mitochondrial DNA-related mitochondrial myopathy
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Orphanet_254788 |
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Lethal infantile mitochondrial myopathy
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Orphanet_254857 |
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Ackerman fused molar roots syndrome
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Orphanet_2561 |
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