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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
:
serac1
| OMIM: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)