Term Name: | 3-methylglutaconic aciduria type 8 |
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Synonyms: | 3-methylglutaconic aciduria type VIII, MGCA8 |
Definition: | A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. |
Ontology: | Human Disease [DOID:0070000] ( DOID:0070000 ) |