| Metadata | |
|---|---|
| ID | DOID:0081134 |
| Name | 3-methylglutaconic aciduria type 7b |
| 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. https://pubmed.ncbi.nlm.nih.gov/25597510/, https://pubmed.ncbi.nlm.nih.gov/25597511/ |
| Xrefs | |
| Parent Relationships |
is_a 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |