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methylmalonic acidemia due to transcobalamin receptor defect

Go to external page http://purl.obolibrary.org/obo/DOID_0060741

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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/20524213 http://purl.obolibrary.org/obo/ECO_0007645 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • ORDO:280183
  • MIM:613646
  • ICD10CM:E71.1
Subsets

DO_rare_slim

has obo namespace

disease_ontology

id

DOID:0060741