Visualize Submit Comment
Metadata
ID DOID:0110002
Name 3-methylglutaconic aciduria type 1
Definition A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.
https://pubmed.ncbi.nlm.nih.gov/12434311/
Xrefs

MESH:C562801

OMIM:250950

ORDO:67046

Subsets

DO_rare_slim

Synonyms

3-methylglutaconic aciduria type I [EXACT]

3-methylglutaconyl-CoA hydratase deficiency [EXACT]

3MG-CoA hydratase deficiency [EXACT]

MGA type I [EXACT]

MGA1 [EXACT]

Parent Relationships

is_a 3-methylglutaconic aciduria

is_a autosomal recessive disease

Add an item to the term tracker