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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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Familial osteochondritis dissecans
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Orphanet_251262 |
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HPD with diurnal fluctuation
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Orphanet_255 |
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Toxic or drug-related embryofetopathy
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Orphanet_251529 |
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Multiple epiphyseal dysplasia
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Orphanet_251 |
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SATB2-associated syndrome due to a chromosomal rearrangement
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Orphanet_251028 |
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OXPHOS disease due to a large-scale single deletion of mtDNA
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Orphanet_254767 |
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OXPHOS disease due to a point mutation of mitochondrial DNA
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Orphanet_254776 |
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OXPHOS disease due to a point mutation of mtDNA
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Orphanet_254776 |
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Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
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Orphanet_254534 |
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Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
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Orphanet_254528 |
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OXPHOS disease due to mitochondrial DNA anomalies
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Orphanet_254758 |
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OXPHOS disease due to mtDNA anomalies
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Orphanet_254758 |
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Temple syndrome due to paternal 14q32.2 hypomethylation
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Orphanet_254531 |
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Temple syndrome due to paternal 14q32.2 microdeletion
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Orphanet_254525 |
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Maternally-inherited mitochondrial dystonia
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Orphanet_254851 |
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