peroxisomal disease
disorder of peroxisomal function
exact
peroxisomal disease
exact
peroxisomal disorder
exact
peroxisomal function disorder
exact
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.
MONDO:0100033
metabolic epilepsy
excluded_subClassOf
MONDO:0019052
inborn errors of metabolism
is_a
SPAC17D4.01 SPAPB17E12.03 SPCC757.07c SPAC17A5.01 SPBC646.15c SPAC1F12.04c SPAC3C7.10 SPAC767.01c SPBC582.09 SPCC16C4.04 SPAC29A4.14c SPBC12C2.08 SPAC17C9.14 SPBC725.07 SPCC553.03 SPBC17A3.10 SPBC13G1.03c