1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0110000 | 3-methylglutaconic aciduria type 5 | A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:655 | inherited metabolic disorder | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |