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Summary Literature (0)
DOID:0060741 - methylmalonic acidemia due to transcobalamin receptor defect

Disease Ontology Definition:A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.

Synonyms: methylmalonic acidemia, TCb1R type, methylmalonic acidemia, TCbIR type, methylmalonic acidemia, TCblR type, methylmalonic aciduria due to transcobalamin receptor defect,

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013341 - methylmalonic acidemia due to transcobalamin receptor defect


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

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