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Summary Literature (0)
DOID:0112307 - sarcosinemia

Disease Ontology Definition:An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2.

Synonyms: demethylation defect of N-methylglycine, SARCOS, sarcosine dehydrogenase complex deficiency, SARD deficiency, SARDH deficiency

Xenbase Genes : sardh


MIM:
MIM:268900 - SARCOSINEMIA; SARCOS

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a)