peroxisomal disease
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
disorder of peroxisomal function
exact
peroxisomal disease
exact
peroxisomal disorder
exact
peroxisomal function disorder
exact
SPAC29A4.14c SPBC13G1.03c SPAPB17E12.03 SPCC553.03 SPCC757.07c SPAC17D4.01 SPBC582.09 SPBC17A3.10 SPAC17C9.14 SPAC3C7.10 SPAC17A5.01 SPBC646.15c SPAC1F12.04c SPAC767.01c SPCC16C4.04 SPBC725.07 SPBC12C2.08