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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:0013341 - methylmalonic acidemia due to transcobalamin receptor defect |
Other Model Organisms: Alliance, 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)