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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 : lmbrd1
MIM:277380 - methylmalonic aciduria and homocystinuria, cblf type |
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)