isolated glycolic aciduria Disease Ontology Browser

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Disease Ontology Browser

isolated glycolic aciduria (DOID:0081464)
Alliance: disease page
Alt IDs: OMIM:621642
Definition: A carbohydrate metabolic disorder that is characterized by markedly elevated urinary and plasma glycolate without further metabolic disease consequences and that has_material_basis_in homozygous mutation in the HAO1 gene on chromosome 20p12.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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