methylmalonic aciduria and homocystinuria type cblF

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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).

Synonyms: Cobalamin F deficiency,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lmbrd1

OMIM:

MIM:277380 - methylmalonic aciduria and homocystinuria, cblf type

MIM:277380 - methylmalonic aciduria and homocystinuria, cblf type

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)