Search Ontology:
Human Disease

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

Term ID
DOID:0110001
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
  • MIM:614739
  • ORDO:352328
Ontology
Human Disease   ( DOID:0110001 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations