Metadata | |
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ID | DOID:0110000 |
Name | 3-methylglutaconic aciduria type 5 |
Definition | A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. https://www.ncbi.nlm.nih.gov/pubmed/16055927 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
3-methylglutaconic aciduria type V [EXACT] DCMA [EXACT] DCMA syndrome [EXACT] dilated cardiomyopathy with ataxia [EXACT] MGA5 [EXACT] MGCA5 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |