| Metadata | |
|---|---|
| ID | DOID:0070000 |
| Name | 3-methylglutaconic aciduria type 8 |
| Definition | A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. https://www.ncbi.nlm.nih.gov/pubmed/27208207, https://www.ncbi.nlm.nih.gov/pubmed/27696117 |
| Xrefs | |
| Synonyms |
3-methylglutaconic aciduria type VIII, MGCA8 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |