| manager |
|
| language |
- |
| license |
- |
| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
|
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/
|
20,514 entries
|
There is 0 pattern entry.
|
Benign COX deficiency
|
Orphanet_254864 |
|
|
Deoxyguanosine kinase deficiency
|
Orphanet_254871 |
|
|
Isolated COX deficiency
|
Orphanet_254905 |
|
|
2-oxoglutarate complex deficiency
|
Orphanet_255182 |
|
|
Dihydrolipoyl dehydrogenase deficiency
|
Orphanet_255182 |
|
|
Lipoamide dehydrogenase deficiency
|
Orphanet_255182 |
|
|
Dystonia musculorum deformans
|
Orphanet_256 |
|
|
Glutaryl-coenzyme A dehydrogenase deficiency
|
Orphanet_25 |
|
|
Multiple mtDNA deletion syndrome
|
Orphanet_254807 |
|
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form
|
Orphanet_254803 |
|
|
Mitochondrial DNA depletion syndrome, hepatocerebral form
|
Orphanet_254871 |
|
|
Mitochondrial DNA depletion syndrome, myopathic form
|
Orphanet_254875 |
|
|
Myopathy and diabetes mellitus
|
Orphanet_2596 |
|
|
Microcephaly-hearing loss-intellectual disability syndrome
|
Orphanet_2533 |
|
|
Rare neoplastic disease
|
Orphanet_250908 |
|
