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Combined oxidative phosphorylation defect type 2
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Chuvash erythrocytosis
Fanconi anemia
Joubert syndrome with renal defect
Spinocerebellar ataxia type 10
Von Hippel-Lindau disease
Navajo neurohepatopathy
Synonym(s):
- COXPD2
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MRPS16 Q9Y3D3609204
No signs/symptoms info available.