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Metadata
ID	DOID:0081133
Name	3-methylglutaconic aciduria type 7a
Definition	A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/34140661/
Xrefs	MIM:619835
Parent Relationships	is_a 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia is_a autosomal dominant disease