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DO Term : 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia [DOID:0110003] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.
  • synonyms:
  • 3-methylglutaconic aciduria type 7,
  • OMIM:616271,
  • ORDO:445038,
  • 3-methylglutaconic aciduria type VII,
  • 616271,
  • MGA7,
  • MEGCANN,
  • MGCA7
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Ontology Term --> Direct parents