FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ID (Ontology) DOID:0060740 (Human Disease)
Definition A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.
Also Known As "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" ; "methylmalonic aciduria mut type" ; "vitamin B12-unresponsive methylmalonic aciduria"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
No relevant records available
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
  organic acidemia
   |__methylmalonic acidemia
       |__methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a methylmalonic acidemia
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT
    "methylmalonic aciduria mut type" EXACT
    "vitamin B12-unresponsive methylmalonic aciduria" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:E71.1
MESH:C565390
MIM:251000
ORDO:27