| Metadata | |
|---|---|
| ID | DOID:0081133 |
| PURL | http://purl.obolibrary.org/obo/DOID_0081133 Copy |
| 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 | |
| Parent Relationships |
is_a autosomal dominant disease is_a 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some gene |