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Summary Literature (0)
DOID:0050732 - methylmalonic aciduria and homocystinuria type cblE

Disease Ontology 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.

Synonyms:

Xenbase Genes : mtrr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009354 - methylcobalamin deficiency type cblE


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): methylmalonic acidemia (is_a)