| Metadata | |
|---|---|
| ID | DOID:0110003 |
| Name | 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
| Definition | A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/25597510 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
3-methylglutaconic aciduria type 7 [EXACT] 3-methylglutaconic aciduria type VII [EXACT] MEGCANN [EXACT] MGA7 [EXACT] MGCA7 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |