ORPHA:225703
Mitochondrial disease with peripheral neuropathy
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial disease with peripheral neuropathy | |
| fr | Maladie mitochondriale avec neuropathie périphérique | |
| de | Mitochondriale Krankheit mit peripherer Neuropathie | |
| es | Enfermedad mitocondrial con neuropatía periférica | |
| it | Malattia mitocondriale associata a neuropatia periferica | |
| nl | Mitochondriale ziekte met perifere neuropathie | |
| pt | Doença mitocondrial com neuropatia periférica | |
| pl | Choroba mitochondrialna z neuropatią obwodową | |
| cs | Mitochondriální onemocnění s periferní neuropatií | |
| uk | Мітохондріальна хвороба з периферичною нейропатією | |
| zh | 线粒体疾病伴周围神经病变 | |
| tr | Periferik nöropati ile seyreden mitokondriyal hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16403 | E | validated | |
| UMLS | C5680900 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
Children (14):
- ORPHA:726Alpers-Huttenlocher syndrome
- ORPHA:35656Coenzyme Q10 deficiency
- ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- ORPHA:24Fumaric aciduria
- ORPHA:480Kearns-Sayre syndrome
- ORPHA:506Leigh syndrome
- ORPHA:85282MEHMO syndrome
- ORPHA:550MELAS
- ORPHA:551MERRF
- ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy
- ORPHA:644NARP syndrome
- ORPHA:31Oxoglutaric aciduria
- ORPHA:765Pyruvate dehydrogenase deficiency
- ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/225703
- This record as JSON: /data/d/225703.json