3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Summary

DOID:0110001 - 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Disease Ontology Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.

Synonyms: 3-methylglutaconic aciduria type 6, MEGDEL, MEGDEL syndrome, MGCA6,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: serac1

OMIM:

MIM:614739 - 3-@methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome; megdel

MIM:614739 - 3-@methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome; megdel

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): 3-methylglutaconic aciduria (is_a)