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

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

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

: serac1

MIM:

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: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

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

Parent(s): 3-methylglutaconic aciduria (is_a), autosomal recessive disease (is_a)