Search Ontology:

Human Disease

methylmalonic acidemia

Term ID

DOID:14749

Synonyms

methylmalonic aciduria
methylmalonic aciduria cblB type
methylmalonic aciduria mut type

Definition

An organic acidemia that involves an accumulation of methylmalonic acid in the blood. http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia

References

GARD:7033
MESH:C537358

Ontology

Human Disease ( DOID:14749 )

Relationships

is a type of: organic acidemia

organic acidemia Show first 5 Terms
has subtype: methylmalonic acidemia and homocysteinemia cblX type methylmalonic acidemia cblA type methylmalonic acidemia cblB type methylmalonic acidemia due to transcobalamin receptor defect methylmalonic aciduria and homocystinuria type cblC ... Show All 10 Terms

methylmalonic acidemia and homocysteinemia cblX type methylmalonic acidemia cblA type methylmalonic acidemia cblB type methylmalonic acidemia due to transcobalamin receptor defect methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and homocystinuria type cblE methylmalonic aciduria and homocystinuria type cblF methylmalonic aciduria and homocystinuria type cblG methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Show first 5 Terms

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Genes Involved

Zebrafish Models

Citations