FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term 3-methylglutaconic aciduria ID (Ontology) DOID:0060336 (Human Disease)
Definition An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.
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Human Disease Models (FBhh)  DOID       1
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 3-methylglutaconic aciduria       1
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  amino acid metabolic disorder
   |__organic acidemia
       |__3-methylglutaconic aciduria  29 rec.
           |__3-methylglutaconic aciduria type 1 3 rec.
           |__3-methylglutaconic aciduria type 3 3 rec.
           |__3-methylglutaconic aciduria type 4
           |__3-methylglutaconic aciduria type 5 2 rec.
           |__3-methylglutaconic aciduria type 8 1 rec.
           |__3-methylglutaconic aciduria type 9 3 rec.
           |__3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
           |   |__3-methylglutaconic aciduria type 7a
           |   |__3-methylglutaconic aciduria type 7b
           |__3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2 rec.
           |__Barth syndrome 14 rec.
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ICD10CM:E71.111
MESH:C579867
MIM:PS250950
ORDO:289902