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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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Myopathy, lactic acidosis and sideroblastic anemia
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Orphanet_2598 |
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Mitochondrial myopathy-lactic acidosis-deafness syndrome
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Orphanet_2597 |
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Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
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Orphanet_2597 |
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Lichen planus actinus
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Orphanet_254395 |
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Corpus callosum agenesis-abnormal genitalia syndrome
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Orphanet_2508 |
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Frontal fibrosing alopecia
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Orphanet_254492 |
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Laminin subunit alpha 2-related congenital muscular dystrophy
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Orphanet_258 |
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Branched chain alpha-ketoacid dehydrogenase complex deficiency
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Orphanet_255182 |
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Mixed oligodendroglial and astrocytic tumor
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Orphanet_251651 |
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Osteochondritis dissecans and short stature
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Orphanet_251262 |
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Mitochondrial myopathy and sideroblastic anemia
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Orphanet_2598 |
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GLRX5-related sideroblastic anemia
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Orphanet_255132 |
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Cystic fibrosis-gastritis-megaloblastic anemia syndrome
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Orphanet_2575 |
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Benign concentric annular macular dystrophy
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Orphanet_251287 |
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Spastic ataxia-ocular anomalies syndrome
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Orphanet_2572 |
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