Term Name: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
Synonyms: 3-methylglutaconic aciduria type 7, 3-methylglutaconic aciduria type VII, MEGCANN, MGA7, MGCA7
Definition: A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.
Ontology: Human Disease [DOID:0110003]   ( DOID:0110003 )

Relationships
is a type of: 3-methylglutaconic aciduria autosomal recessive disease
has subtype: 3-methylglutaconic aciduria type 7a 3-methylglutaconic aciduria type 7b