ORPHA:254837
Unspecified mitochondrial disorder
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive, X-linked recessive
- 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 | Unspecified mitochondrial disorder | |
| fr | Anomalie mitochondriale non spécifiée | |
| de | Mitochondriale Krankheit, unspezifische | |
| es | Trastorno mitocondrial no especificado | |
| it | Anomalia mitocondriale non specificata | |
| nl | Niet-gespecificeerde mitochondriale stoornis | |
| pt | Doença mitocondrial não específica | |
| pl | Niespecyficzne zaburzenie mitochondrialne | |
| cs | Nespecifická porucha mitochondrií | |
| uk | Невизначений мітохондріальний розлад | |
| zh | 未指明的线粒体疾病 | |
| tr | Tanısız mitokondriyal bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16803 | E | validated | |
| UMLS | C5680715 | 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:68380Mitochondrial disease
rare inborn errors of metabolism; rare genetic diseases
Children (8):
- ORPHA:6562791p36.33 duplication syndrome
- ORPHA:98672Autosomal dominant optic atrophy
- ORPHA:51188Ethylmalonic encephalopathy
- ORPHA:137675Histiocytoid cardiomyopathy
- ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:2597Mitochondrial myopathy-lactic acidosis-deafness syndrome
- ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:2802X-linked sideroblastic anemia and spinocerebellar ataxia
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254837
- This record as JSON: /data/d/254837.json