Disease association ontology term - MONDO:0009959 - peroxisome biogenesis disorder type 3B
Term summary
- ID
- MONDO:0009959
- Name
- peroxisome biogenesis disorder type 3B
- Ontology or CV name
- Disease association
- Definition
- A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.
