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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

OMIM:617248

Synonyms

3-methylglutaconic aciduria type VIII, MGCA8 [EXACT]

Parent Relationships

is_a 3-methylglutaconic aciduria

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