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Summary Literature (0)
DOID:0050733 - methylmalonic aciduria and homocystinuria type cblG

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 MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism.

Synonyms:

Xenbase Genes : mtr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009609 - methylcobalamin deficiency type cblG


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

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