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Human Disease

methylmalonic aciduria and homocystinuria type cblE

Term ID
DOID:0050732
Synonyms
Definition
A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. (2)
References
Ontology
Human Disease   ( DOID:0050732 )
Relationships
is a type of
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Genes Involved
Zebrafish Models