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Summary Literature (0)
DOID:0050717 - methylmalonic aciduria and homocystinuria type cblF

Disease Ontology Definition:A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.

Synonyms: Cobalamin F deficiency, MAHCF,

Xenbase Genes : lmbrd1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010183 - methylmalonic aciduria and homocystinuria type cblF


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)