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methylmalonic acidemia due to transcobalamin receptor defect (DOID:0060741)
Alliance: disease page
Synonyms: methylmalonic acidemia, TCblR type; methylmalonic aciduria due to transcobalamin receptor defect
Alt IDs: OMIM:613646, ICD10CM:E71.1, ORDO:280183
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory