OBO ID: DOID:0110001
Term Name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Search Ontology:
Synonyms:
  • 3-methylglutaconic aciduria type 6
  • MEGDEL
  • MEGDEL syndrome
  • MGCA6
Definition: A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. https://www.ncbi.nlm.nih.gov/pubmed/22683713
References:
Ontology: Human Disease   (DOID:0110001)
OTHER 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 614739
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None