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Combined oxidative phosphorylation defect type 8
1 OMIM reference -
1 associated gene
1 connected disease
No signs/symptoms info
Disease Type of connection
Spinal muscular atrophy with respiratory distress
Synonym(s):
- COXPD8
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
AARS2 Q5JTZ9612035
No signs/symptoms info available.