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Summary Literature (62)
DOID:655 - inherited metabolic disorder


Disease Ontology Definition:A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.

Synonyms: Inborn Errors of Metabolism, Metabolic hereditary disorder, inborn metabolism disorder,

Xenbase Genes : slc5a1.2, suclg1, pygl, mapk8ip1, irs1, fga, polg, bmp6, app, ttr, il6, tf, cyp21a2.1, stat3, prdx1, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019052 - inborn errors of metabolism


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): disease of metabolism (is_a), genetic disease (is_a)