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| Term | 3-methylglutaconic aciduria type 7a | ID (Ontology) | DOID:0081133 (Human Disease) |
| 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. | ||
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autosomal recessive disease |__3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia__ autosomal genetic disease | |__autosomal dominant disease__________________________________________________________| 3-methylglutaconic aciduria | |__3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia__| 3-methylglutaconic aciduria type 7a |
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autosomal dominant disease 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
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| MIM:619835 | |||