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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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Autosomal recessive limb-girdle muscular dystrophy type 2Q
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Orphanet_254361 |
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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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Complete hydatidiform mole
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Orphanet_254688 |
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Incomplete hydatidiform mole
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Orphanet_254693 |
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Partial hydatidiform mole
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Orphanet_254693 |
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Plectin-related limb-girdle muscular dystrophy R17
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Orphanet_254361 |
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Maternally-inherited mitochondrial myopathy
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Orphanet_254788 |
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mtDNA-related mitochondrial myopathy
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Orphanet_254788 |
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Pure mitochondrial myopathy
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Orphanet_254854 |
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Lichen planus pemphigoides
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Orphanet_254478 |
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Isolated oxidative phosphorylation complex disorder
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Orphanet_254846 |
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Combined oxidative phosphorylation defect type 2
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Orphanet_254920 |
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