peroxisomal disease
MONDO:0019053Mondo
Findings
No curated finding names peroxisomal disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.
Definition from the Mondo Disease Ontology (MONDO:0019053), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
3 names
Resolves to: peroxisomal disease
- Also called
- disorder of peroxisomal functionperoxisomal disorderperoxisomal function disorder