Search Ontology:
Human Disease

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

Term ID
DOID:0110003
Synonyms
  • 3-methylglutaconic aciduria type 7
  • 3-methylglutaconic aciduria type VII
  • MEGCANN
  • MGA7
  • MGCA7
Definition
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/25597510
References
Ontology
Human Disease   ( DOID:0110003 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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