Metadata | |
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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 | |
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 | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |