mevalonic aciduria
Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
MONDO:0019053
peroxisomal disease
excluded_subClassOf
MONDO:0005328
eye disorder
is_a
MONDO:0017708
mevalonate kinase deficiency
is_a
HIDS
exact
MEVA
related
MKD
exact
MVA
exact
Mevalonicaciduria
related
complete mevalonate kinase deficiency
exact
hyperimmunoglobulin D with periodic fever syndrome
exact
mevalonic aciduria
exact
SPAC13G6.11c SPAC343.01c