Term Name: | 3-methylglutaconic aciduria type 7b |
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Synonyms: | |
Definition: | A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. |
Ontology: | Human Disease [DOID:0081134] ( DOID:0081134 ) |