. "GARD:6476"^^ . "OMIM:606812"^^ . _:vb50944499 . . _:vb50944499 . "disease_ontology"^^ . "DOID:0111261"^^ . _:vb50944499 . . "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43."^^ . _:vb50944499 . "FMRD"@en . . "fumaric aciduria"@en . "ORDO:24"^^ . "UMLS_CUI:C0342770"^^ . "UMLS_CUI:C2936826"^^ . "fumarase deficiency"^^ . "SNOMEDCT_US_2021_09_01:237983002"^^ . _:vb50944499 . "MESH:C538191"^^ .