Search Ontology:
Human Disease

3-methylglutaconic aciduria type 7b

Term ID
DOID:0081134
Synonyms
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
  • MGCA7B
Definition
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13.4. (2)
References
Ontology
Human Disease   ( DOID:0081134 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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